• Gene id: 91

Gene Summary

• Gene Symbol: ACVR1B   Gene   UCSC   Ensembl
• Aliases: ACTRIB, ACVRLK4, ALK4, SKR2
• Gene name: activin A receptor type 1B
• Alternate names: activin receptor type-1B, activin A receptor, type IB, activin A receptor, type II-like kinase 4, activin receptor-like kinase 4, serine/threonine-protein kinase receptor R2,
• Gene location: 12q13.13 (51951695: 51997078)     Exons: 12     NC_000012.12
• Gene summary(Entrez): This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heter
• OMIM: 601300

SNPs

rs397514561

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.780097T>C
NC_000007.13   g.819734T>C
NG_033137.1   g.58397T>C
NM_017802.4   c.2384T>C
NM_017802.3   c.2384T>C
NR_075098.1   n.2342T>C
XM_024446814.1   c.1778T>C
NP_060272.3   p.Leu795Pro
XP_024302582.1   p.Leu593Pro|SEQ=[T/C]|GENE=DNAAF5

rs113994148

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000011.10   g.66849026_66849027del
NC_000011.9   g.66616497_66616498del
NG_008319.1   g.114350_114351del
NM_000920.4   c.3409_3410del
NM_000920.3   c.3409_3410del
NM_022172.3   c.3409_3410del
NM_022172.2   c.3409_3410del
NM_001040716.2   c.3409_3410del
NM_0010407  

rs113994147

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66850398G>A
NC_000011.9   g.66617869G>A
NG_008319.1   g.112979C>T
NM_000920.4   c.2540C>T
NM_000920.3   c.2540C>T
NM_022172.3   c.2540C>T
NM_022172.2   c.2540C>T
NM_001040716.2   c.2540C>T
NM_001040716.1   c.2540C>T
XM_005274031.4   c.2540C>T
XM_0052740  

rs113994146

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66851149G>T
NC_000011.9   g.66618620G>T
NG_008319.1   g.112228C>A
NM_000920.4   c.2114C>A
NM_000920.3   c.2114C>A
NM_022172.3   c.2114C>A
NM_022172.2   c.2114C>A
NM_001040716.2   c.2114C>A
NM_001040716.1   c.2114C>A
XM_005274031.4   c.2114C>A
XM_0052740  

rs113994145

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66851880C>T
NC_000011.9   g.66619351C>T
NG_008319.1   g.111497G>A
NM_000920.4   c.1892G>A
NM_000920.3   c.1892G>A
NM_022172.3   c.1892G>A
NM_022172.2   c.1892G>A
NM_001040716.2   c.1892G>A
NM_001040716.1   c.1892G>A
XM_005274031.4   c.1892G>A
XM_0052740  

rs113994144

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66852559T>C
NC_000011.9   g.66620030T>C
NG_008319.1   g.110818A>G
NM_000920.4   c.1705A>G
NM_000920.3   c.1705A>G
NM_022172.3   c.1705A>G
NM_022172.2   c.1705A>G
NM_001040716.2   c.1705A>G
NM_001040716.1   c.1705A>G
XM_005274031.4   c.1705A>G
XM_0052740  

rs113994143

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66863791G>A
NC_000011.9   g.66631262G>A
NG_008319.1   g.99586C>T
NM_000920.4   c.1351C>T
NM_000920.3   c.1351C>T
NM_022172.3   c.1351C>T
NM_022172.2   c.1351C>T
NM_001040716.2   c.1351C>T
NM_001040716.1   c.1351C>T
XM_005274031.4   c.1351C>T
XM_00527403  

rs113994141

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66871824G>A
NC_000011.9   g.66639295G>A
NG_008319.1   g.91553C>T
NM_000920.4   c.184C>T
NM_000920.3   c.184C>T
NM_022172.3   c.184C>T
NM_022172.2   c.184C>T
NM_001040716.2   c.184C>T
NM_001040716.1   c.184C>T
XM_005274031.4   c.184C>T
XM_005274031.1   c.1

rs28940591

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66871368A>C
NC_000011.10   g.66871368A>G
NC_000011.9   g.66638839A>C
NC_000011.9   g.66638839A>G
NG_008319.1   g.92009T>G
NG_008319.1   g.92009T>C
NM_000920.4   c.434T>G
NM_000920.4   c.434T>C
NM_000920.3   c.434T>G
NM_000920.3   c.434T>C
NM_022172.3   c.

rs28940590

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66850918C>A
NC_000011.9   g.66618389C>A
NG_008319.1   g.112459G>T
NM_000920.4   c.2229G>T
NM_000920.3   c.2229G>T
NM_022172.3   c.2229G>T
NM_022172.2   c.2229G>T
NM_001040716.2   c.2229G>T
NM_001040716.1   c.2229G>T
XM_005274031.4   c.2229G>T
XM_0052740  

rs28940589

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66851944C>T
NC_000011.9   g.66619415C>T
NG_008319.1   g.111433G>A
NM_000920.4   c.1828G>A
NM_000920.3   c.1828G>A
NM_022172.3   c.1828G>A
NM_022172.2   c.1828G>A
NM_001040716.2   c.1828G>A
NM_001040716.1   c.1828G>A
XM_005274031.4   c.1828G>A
XM_0052740  

rs724078

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.29521271G>A
NC_000006.11   g.29489048G>A
NT_113891.3   g.1007734G>A
NT_113891.2   g.1007840G>A
NT_167248.2   g.786742A>G
NT_167248.1   g.792338A>G
NT_167245.2   g.786798G>A
NT_167245.1   g.792383G>A
NT_167249.2   g.830287G>A
NT_167249.1   g.829585G>A
NT  

rs7174015

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.50424871G>A
NC_000015.10   g.50424871G>T
NC_000015.9   g.50717068G>A
NC_000015.9   g.50717068G>T
NG_047101.1   g.5495G>A
NG_047101.1   g.5495G>T|SEQ=[G/A/T]|GENE=USP8

rs7104156

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66871781T>A
NC_000011.9   g.66639252T>A
NG_008319.1   g.91596A>T
NM_000920.4   c.227A>T
NM_000920.3   c.227A>T
NM_022172.3   c.227A>T
NM_022172.2   c.227A>T
NM_001040716.2   c.227A>T
NM_001040716.1   c.227A>T
XM_005274031.4   c.227A>T
XM_005274031.1   c.2

rs4471514

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.95273561C>A
NC_000012.12   g.95273561C>T
NC_000012.11   g.95667337C>A
NC_000012.11   g.95667337C>T
NG_028987.2   g.60816C>A
NG_028987.2   g.60816C>T
NG_028987.1   g.60816C>A
NG_028987.1   g.60816C>T|SEQ=[C/A/T]|GENE=VEZT

rs2774276

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.161041926G>A
NC_000001.11   g.161041926G>C
NC_000001.10   g.161011716G>A
NC_000001.10   g.161011716G>C
NG_011612.1   g.9042C>T
NG_011612.1   g.9042C>G|SEQ=[G/A/C]|GENE=USF1

rs2516838

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.161044580C>G
NC_000001.10   g.161014370C>G
NG_011612.1   g.6388G>C|SEQ=[C/G]|GENE=USF1

rs1556259

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.161044859A>G
NC_000001.11   g.161044859A>T
NC_000001.10   g.161014649A>G
NC_000001.10   g.161014649A>T
NG_011612.1   g.6109T>C
NG_011612.1   g.6109T>A|SEQ=[A/G/T]|GENE=USF1

rs769423

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.3092923C>T
NC_000017.10   g.2996217C>T
NM_002548.2   c.74G>A
NP_002539.2   p.Arg25Gln|SEQ=[C/T]|GENE=OR1D2

rs642321

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31400896T>A
NC_000005.10   g.31400896T>C
NC_000005.9   g.31401003T>A
NC_000005.9   g.31401003T>C
NG_051574.1   g.136280A>T
NG_051574.1   g.136280A>G
NM_013235.5   c.*536A>T
NM_013235.5   c.*536A>G
NM_013235.4   c.*536A>T
NM_013235.4   c.*536A>G
NM_00110  

rs10719

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31401340A>G
NC_000005.10   g.31401340A>T
NC_000005.9   g.31401447A>G
NC_000005.9   g.31401447A>T
NG_051574.1   g.135836T>C
NG_051574.1   g.135836T>A
NM_013235.5   c.*92T>C
NM_013235.5   c.*92T>A
NM_013235.4   c.*92T>C
NM_013235.4   c.*92T>A
NM_001100412  

rs700519

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

rs2656927

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

rs5000770

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.80424141G>A
NC_000015.9   g.80716483G>A|SEQ=[G/A]|GENE=ARNT2

rs11091748

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50414986A>C
NC_000023.11   g.50414986A>G
NC_000023.11   g.50414986A>T
NW_004070877.1   g.128101A>C
NW_004070877.1   g.128101A>G
NW_004070877.1   g.128101A>T
NG_033143.2   g.60737T>G
NG_033143.2   g.60737T>C
NG_033143.2   g.60737T>A
NC_000023.10   g.5015

rs12171755

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50436751C>G
NC_000023.11   g.50436751C>T
NW_004070877.1   g.149866C>G
NW_004070877.1   g.149866C>T
NG_033143.2   g.38972G>C
NG_033143.2   g.38972G>A
NC_000023.10   g.50179749C>G
NC_000023.10   g.50179749C>T|SEQ=[C/G/T]|GENE=DGKK

rs4143304

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50403572C>T
NW_004070877.1   g.116687C>T
NG_033143.2   g.72151G>A
NM_001013742.4   c.1104G>A
NM_001013742.3   c.1104G>A
NM_001013742.2   c.1104G>A
NC_000023.10   g.50146570C>T
XM_017029268.2   c.1104G>A|SEQ=[C/T]|GENE=DGKK

rs17328236

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50425211A>C
NC_000023.11   g.50425211A>G
NW_004070877.1   g.138326A>C
NW_004070877.1   g.138326A>G
NG_033143.2   g.50512T>G
NG_033143.2   g.50512T>C
NC_000023.10   g.50168209A>C
NC_000023.10   g.50168209A>G|SEQ=[A/C/G]|GENE=DGKK

rs1934179

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50439186G>A
NW_004070877.1   g.152301G>A
NG_033143.2   g.36537C>T
NC_000023.10   g.50182184G>A|SEQ=[G/A]|GENE=DGKK

rs4554617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50460404A>C
NW_004070877.1   g.173519A>C
NG_033143.2   g.15319T>G
NC_000023.10   g.50203402A>C|SEQ=[A/C]|GENE=DGKK

rs1934183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50438016A>C
NW_004070877.1   g.151131A>C
NG_033143.2   g.37707T>G
NC_000023.10   g.50181014A>C|SEQ=[A/C]|GENE=DGKK

rs2211122

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50459752T>C
NW_004070877.1   g.172867T>C
NG_033143.2   g.15971A>G
NC_000023.10   g.50202750T>C|SEQ=[T/C]|GENE=DGKK

rs498422

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

rs9969978

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50425307G>C
NW_004070877.1   g.138422G>C
NG_033143.2   g.50416C>G
NC_000023.10   g.50168305G>C|SEQ=[G/C]|GENE=DGKK

rs1934188

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50406247G>A
NC_000023.11   g.50406247G>C
NW_004070877.1   g.119362G>A
NW_004070877.1   g.119362G>C
NG_033143.2   g.69476C>T
NG_033143.2   g.69476C>G
NC_000023.10   g.50149245G>A
NC_000023.10   g.50149245G>C|SEQ=[G/A/C]|GENE=DGKK

rs4826632

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50454263G>T
NW_004070877.1   g.167378G>T
NG_033143.2   g.21460C>A
NC_000023.10   g.50197261G>T|SEQ=[G/T]|GENE=DGKK

rs4599945

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50380968G>A
NC_000023.11   g.50380968G>T
NW_004070877.1   g.94083G>A
NW_004070877.1   g.94083G>T
NG_033143.2   g.94755C>T
NG_033143.2   g.94755C>A
NC_000023.10   g.50123966G>A
NC_000023.10   g.50123966G>T|SEQ=[G/A/T]|GENE=DGKK

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

rs1020397

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.80426396G>A
NC_000015.10   g.80426396G>C
NC_000015.10   g.80426396G>T
NC_000015.9   g.80718738G>A
NC_000015.9   g.80718738G>C
NC_000015.9   g.80718738G>T|SEQ=[G/A/C/T]|GENE=ARNT2

rs2291109

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31532322A>G
NC_000005.10   g.31532322A>T
NC_000005.9   g.31532429A>G
NC_000005.9   g.31532429A>T
NG_051574.1   g.4854T>C
NG_051574.1   g.4854T>A
NM_018356.3   c.-71A>G
NM_018356.3   c.-71A>T
NM_018356.2   c.-71A>G
NM_018356.2   c.-71A>T
XM_011514062.3   c

rs17409893

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.31532682A>G
NC_000005.9   g.31532789A>G
NG_051574.1   g.4494T>C|SEQ=[A/G]|GENE=DROSHA
C5orf22   55322

rs2241769

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.50424436G>A
NC_000015.10   g.50424436G>C
NC_000015.9   g.50716633G>A
NC_000015.9   g.50716633G>C
NG_047101.1   g.5060G>A
NG_047101.1   g.5060G>C
NM_001128610.2   c.-284G>A
NM_001128610.2   c.-284G>C
NM_001128610.3   c.-284G>A
NM_001128610.3   c.-284G>C
  

rs3743044

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.50481590A>G
NC_000015.9   g.50773787A>G
NG_047101.1   g.62214A>G
NM_001128610.2   c.1328A>G
NM_001128610.3   c.1328A>G
NM_001128610.1   c.1328A>G
NM_005154.5   c.1328A>G
NM_005154.4   c.1328A>G
NM_005154.3   c.1328A>G
XM_006720761.3   c.1328A>G
XM_00672  

rs10506398

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.59717545A>C
NC_000012.12   g.59717545A>G
NC_000012.11   g.60111326A>C
NC_000012.11   g.60111326A>G|SEQ=[A/C/G]|GENE=SLC16A7

rs10506399

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.59780712G>A
NC_000012.12   g.59780712G>C
NC_000012.11   g.60174493G>A
NC_000012.11   g.60174493G>C
NM_004731.4   c.*1033G>A
NM_004731.4   c.*1033G>C
NM_004731.5   c.*1033G>A
NM_004731.5   c.*1033G>C
XM_005269231.4   c.*1033G>A
XM_005269231.4   c.*1033G>

rs4074319

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50376189G>A
NW_004070877.1   g.89304G>A
NG_033143.2   g.99534C>T
NC_000023.10   g.50119188G>A|SEQ=[G/A]|GENE=DGKK

rs7879090

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50376928A>G
NW_004070877.1   g.90043A>G
NG_033143.2   g.98795T>C
NC_000023.10   g.50119927A>G|SEQ=[A/G]|GENE=DGKK

rs5961179

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50386371A>G
NW_004070877.1   g.99486A>G
NG_033143.2   g.89352T>C
NM_001013742.4   c.2334T>C
NM_001013742.3   c.2334T>C
NM_001013742.2   c.2334T>C
NC_000023.10   g.50129369A>G
XM_017029268.2   c.2334T>C|SEQ=[A/G]|GENE=DGKK

rs7882950

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50386957C>T
NW_004070877.1   g.100072C>T
NG_033143.2   g.88766G>A
NC_000023.10   g.50129955C>T|SEQ=[C/T]|GENE=DGKK

rs12556919

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50388166A>G
NC_000023.11   g.50388166A>T
NW_004070877.1   g.101281A>G
NW_004070877.1   g.101281A>T
NG_033143.2   g.87557T>C
NG_033143.2   g.87557T>A
NC_000023.10   g.50131164A>G
NC_000023.10   g.50131164A>T|SEQ=[A/G/T]|GENE=DGKK

rs12012084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50390683A>C
NC_000023.11   g.50390683A>G
NW_004070877.1   g.103798A>C
NW_004070877.1   g.103798A>G
NG_033143.2   g.85040T>G
NG_033143.2   g.85040T>C
NC_000023.10   g.50133681A>C
NC_000023.10   g.50133681A>G|SEQ=[A/C/G]|GENE=DGKK

rs17003341

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50391813C>T
NW_004070877.1   g.104928C>T
NG_033143.2   g.83910G>A
NC_000023.10   g.50134811C>T|SEQ=[C/T]|GENE=DGKK

rs1320573

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50397981C>T
NW_004070877.1   g.111096C>T
NG_033143.2   g.77742G>A
NC_000023.10   g.50140979C>T|SEQ=[C/T]|GENE=DGKK

rs17003346

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50400511A>G
NW_004070877.1   g.113626A>G
NG_033143.2   g.75212T>C
NC_000023.10   g.50143509A>G|SEQ=[A/G]|GENE=DGKK

rs1934190

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50400967G>A
NC_000023.11   g.50400967G>C
NC_000023.11   g.50400967G>T
NW_004070877.1   g.114082G>A
NW_004070877.1   g.114082G>C
NW_004070877.1   g.114082G>T
NG_033143.2   g.74756C>T
NG_033143.2   g.74756C>G
NG_033143.2   g.74756C>A
NC_000023.10   g.5014

rs17003348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50415123T>C
NW_004070877.1   g.128238T>C
NG_033143.2   g.60600A>G
NC_000023.10   g.50158121T>C|SEQ=[T/C]|GENE=DGKK

rs7888440

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50415792G>C
NW_004070877.1   g.128907G>C
NG_033143.2   g.59931C>G
NC_000023.10   g.50158790G>C|SEQ=[G/C]|GENE=DGKK

rs7877459

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50417673C>G
NW_004070877.1   g.130788C>G
NG_033143.2   g.58050G>C
NC_000023.10   g.50160671C>G|SEQ=[C/G]|GENE=DGKK

rs5961182

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50432873C>A
NC_000023.11   g.50432873C>G
NC_000023.11   g.50432873C>T
NW_004070877.1   g.145988C>A
NW_004070877.1   g.145988C>G
NW_004070877.1   g.145988C>T
NG_033143.2   g.42850G>T
NG_033143.2   g.42850G>C
NG_033143.2   g.42850G>A
NC_000023.10   g.5017

rs1934170

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50439853G>A
NC_000023.11   g.50439853G>C
NW_004070877.1   g.152968G>A
NW_004070877.1   g.152968G>C
NG_033143.2   g.35870C>T
NG_033143.2   g.35870C>G
NC_000023.10   g.50182851G>A
NC_000023.10   g.50182851G>C|SEQ=[G/A/C]|GENE=DGKK

rs6614511

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50456494A>T
NW_004070877.1   g.169609A>T
NG_033143.2   g.19229T>A
NC_000023.10   g.50199492A>T|SEQ=[A/T]|GENE=DGKK

rs1934184

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50462117C>A
NC_000023.11   g.50462117C>T
NW_004070877.1   g.175232C>A
NW_004070877.1   g.175232C>T
NG_033143.2   g.13606G>T
NG_033143.2   g.13606G>A
NC_000023.10   g.50205115C>A
NC_000023.10   g.50205115C>T|SEQ=[C/A/T]|GENE=DGKK

rs5961183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50462757T>C
NW_004070877.1   g.175872T>C
NG_033143.2   g.12966A>G
NC_000023.10   g.50205755T>C|SEQ=[T/C]|GENE=DGKK

rs7876567

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.50468742C>T
NW_004070877.1   g.181857C>T
NG_033143.2   g.6981G>A
NC_000023.10   g.50211741C>T|SEQ=[C/T]|GENE=DGKK

Protein Summary

• Protein general information: P36896  
  • Name: Activin receptor type 1B (EC 2.7.11.30) (Activin receptor type IB) (ACTR IB) (Activin receptor like kinase 4) (ALK 4) (Serine/threonine protein kinase receptor R2) (SKR2)
  • Length: 505  
  • Mass: 56807
  • Tissue specificity: Expressed in many tissues, most strongly in kidney, pancreas, brain, lung, and liver.
• Sequence:

  MAESAGASSFFPLVVLLLAGSGGSGPRGVQALLCACTSCLQANYTCETDGACMVSIFNLDGMEHHVRTCIPKVEL
  VPAGKPFYCLSSEDLRNTHCCYTDYCNRIDLRVPSGHLKEPEHPSMWGPVELVGIIAGPVFLLFLIIIIVFLVIN
  YHQRVYHNRQRLDMEDPSCEMCLSKDKTLQDLVYDLSTSGSGSGLPLFVQRTVARTIVLQEIIGKGRFGEVWRGR
  WRGGDVAVKIFSSREERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVT
  IEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDIAPNQRV
  GTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCDQ
  KLRPNIPNWWQSYEALRVMGKMMRECWYANGAARLTALRIKKTLSQLSVQEDVKI

• Structural information:
  • Protein Domains: (177..20-)
    (/note="GS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00585-)
    (207..49-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR000472  IPR003605  IPR011009  IPR000719  IPR017441   IPR008271  IPR000333  
  • Prosite: PS51256 PS00107 PS50011 PS00108
  • DIP: 427
  • STRING: ENSP00000442656
• Other Databases: GeneCards:  ACVR1B  Malacards:  ACVR1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IDA	biological process
GO:0007165	signal transduction	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	NAS	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0017002	activin-activated receptor activity	IDA	contributes to
GO:0048185	activin binding	IDA	contributes to
GO:0046332	SMAD binding	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0045648	positive regulation of erythrocyte differentiation	IDA	biological process
GO:0000082	G1/S transition of mitotic cell cycle	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0016361	activin receptor activity, type I	TAS	molecular function
GO:0019838	growth factor binding	IPI	contributes to
GO:0009986	cell surface	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0006468	protein phosphorylation	IBA	biological process
GO:0007399	nervous system development	IBA	biological process
GO:0016361	activin receptor activity, type I	IBA	molecular function
GO:0032924	activin receptor signaling pathway	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0048179	activin receptor complex	IBA	cellular component
GO:0071363	cellular response to growth factor stimulus	IBA	biological process
GO:0032924	activin receptor signaling pathway	IDA	biological process
GO:0016361	activin receptor activity, type I	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	TAS	biological process
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	EXP	molecular function
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:0046545	development of primary female sexual characteristics	IEA	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0048185	activin binding	IEA	molecular function
GO:0032924	activin receptor signaling pathway	IEA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0009966	regulation of signal transduction	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0001701	in utero embryonic development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	NAS	molecular function
GO:0034711	inhibin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032927	positive regulation of activin receptor signaling pathway	IDA	biological process
GO:1901165	positive regulation of trophoblast cell migration	IDA	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0048179	activin receptor complex	IDA	cellular component
GO:0032924	activin receptor signaling pathway	IMP	biological process
GO:0097191	extrinsic apoptotic signaling pathway	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0038092	nodal signaling pathway	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
pancreatic cancer	PMID:9714055
pancreatic cancer	PMID:11248065
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray