• Gene id: 29

Gene Summary

• Gene Symbol: ABR   Gene   UCSC   Ensembl
• Aliases: MDB
• Gene name: ABR activator of RhoGEF and GTPase
• Alternate names: active breakpoint cluster region-related protein, ABR, RhoGEF and GTPase activating protein, active BCR-related,
• Gene location: 17p13.3 (31199974: 31332275)     Exons: 20     NC_000013.11
• Gene summary(Entrez): This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of
• OMIM: 600365

SNPs

rs397515395

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000019.10   g.55161685dup
NC_000019.9   g.55673053dup
NG_007866.2   g.1048dup
NG_032759.1   g.10038dup
NM_178837.4   c.762dup
NM_001256715.2   c.621dup
NM_001256715.1   c.621dup
NM_001256716.1   c.459dup
NM_001256714.1   c.825dup
NP_849159.2   p.Val255fs
NP_001243644  

rs397515392

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

NC_000003.12   g.180661860C>G
NC_000003.11   g.180379648C>G
NG_029581.1   g.22636G>C|SEQ=[C/G]|GENE=CCDC39

rs387907152

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

NC_000019.10   g.55165427G>A
NC_000019.9   g.55676795G>A
NG_032759.1   g.6296C>T
NM_178837.4   c.406C>T
NM_001256715.2   c.265C>T
NM_001256715.1   c.265C>T
NM_001256716.1   c.103C>T
NM_001256714.1   c.469C>T
NP_849159.2   p.Arg136Ter
NP_001243644.1   p.Arg89Ter
NP_00124  

rs387907151

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

NC_000019.10   g.55165904A>G
NC_000019.9   g.55677272A>G
NG_032759.1   g.5819T>C
NM_178837.4   c.323T>C
NM_001256715.2   c.182T>C
NM_001256715.1   c.182T>C
NM_001256716.1   c.-57T>C
NM_001256714.1   c.386T>C
NP_849159.2   p.Leu108Pro
NP_001243644.1   p.Leu61Pro
NP_00124  

rs10841496

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

NC_000012.12   g.20368720C>A
NC_000012.11   g.20521654C>A
NG_030033.1   g.4476C>A
NM_000921.5   c.-565C>A
NM_001378408.1   c.-1593C>A
NM_001378407.1   c.-565C>A|SEQ=[C/A]|GENE=PDE3A

rs9852810

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

NC_000003.12   g.37027478G>A
NC_000003.11   g.37068969G>A
NG_007109.2   g.39129G>A|SEQ=[G/A]|GENE=MLH1

rs4647269

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

NC_000003.12   g.37016100C>T
NC_000003.11   g.37057591C>T
NG_007109.2   g.27751C>T|SEQ=[C/T]|GENE=MLH1

rs852977

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

NC_000005.10   g.143307929A>G
NC_000005.9   g.142687494A>G
NG_009062.1   g.132584T>C|SEQ=[A/G]|GENE=NR3C1

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  

rs173665

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

NC_000019.10   g.8302030G>A
NC_000019.9   g.8366914G>A
NG_028124.1   g.11327C>T|SEQ=[G/A]|GENE=CD320

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.

rs25640

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

NC_000005.10   g.119475838G>A
NC_000005.10   g.119475838G>C
NC_000005.9   g.118811533G>A
NC_000005.9   g.118811533G>C
NG_008182.1   g.28386G>A
NG_008182.1   g.28386G>C
NM_000414.4   c.317G>A
NM_000414.4   c.317G>C
NM_000414.3   c.317G>A
NM_000414.3   c.317G>C
NM_0011992  

rs11205

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

NC_000005.10   g.119526018A>G
NC_000005.9   g.118861713A>G
NG_008182.1   g.78566A>G
NM_000414.4   c.1675A>G
NM_000414.3   c.1675A>G
NM_001199291.3   c.1750A>G
NM_001199291.2   c.1750A>G
NM_001199291.1   c.1750A>G
NM_001292028.2   c.1255A>G
NM_001292028.1   c.1255A>G
NM_  

rs28943594

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

NC_000005.10   g.119541965A>G
NC_000005.9   g.118877660A>G
NG_008182.1   g.94513A>G
NM_000414.4   c.2182A>G
NM_000414.3   c.2182A>G
NM_001199291.3   c.2257A>G
NM_001199291.2   c.2257A>G
NM_001199291.1   c.2257A>G
NM_001292028.2   c.1762A>G
NM_001292028.1   c.1762A>G
NM_  

rs2070565

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

NC_000021.9   g.44261270T>C
NC_000021.8   g.45681153T>C|SEQ=[T/C]|GENE=DNMT3L

rs2276248

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

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C|SEQ=[T/C]|GENE=DNMT3L

rs7354779

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

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

rs10762738

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

NC_000010.11   g.76935709A>G
NC_000010.10   g.78695467A>G
NG_012270.1   g.707111T>C|SEQ=[A/G]|GENE=KCNMA1
KCNMA1-AS1   101929328

rs143136847

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

NC_000012.12   g.82354560T>C
NC_000012.12   g.82354560T>G
NC_000012.11   g.82748339T>C
NC_000012.11   g.82748339T>G
NG_053173.1   g.1155T>C
NG_053173.1   g.1155T>G
NG_053173.2   g.1155T>C
NG_053173.2   g.1155T>G
NM_014167.5   c.499A>G
NM_014167.5   c.499A>C
NM_014167.4  

rs1727130

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

NC_000007.14   g.100213841C>A
NC_000007.14   g.100213841C>G
NC_000007.14   g.100213841C>T
NC_000007.13   g.99811464C>A
NC_000007.13   g.99811464C>G
NC_000007.13   g.99811464C>T
NG_034114.1   g.41118C>A
NG_034114.1   g.41118C>G
NG_034114.1   g.41118C>T|SEQ=[C/A/G/T]|GE

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

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

rs1800734

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

NC_000003.12   g.36993455G>A
NC_000003.12   g.36993455G>C
NC_000003.11   g.37034946G>A
NC_000003.11   g.37034946G>C
NG_007109.2   g.5106G>A
NG_007109.2   g.5106G>C
NM_000249.3   c.-93G>A
NM_000249.3   c.-93G>C
NM_001258274.2   c.-1188G>A
NM_001258274.2   c.-1188G>C
NM_0  

rs605059

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

NC_000017.11   g.42554888G>A
NC_000017.11   g.42554888G>C
NC_000017.11   g.42554888G>T
NC_000017.10   g.40706906G>A
NC_000017.10   g.40706906G>C
NC_000017.10   g.40706906G>T
NM_000413.3   c.937G>A
NM_000413.3   c.937G>C
NM_000413.3   c.937G>T
NM_000413.4   c.937G>A
NM_0  

rs3814309

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

NC_000001.11   g.109734781T>C
NC_000001.10   g.110277403T>C
NM_000849.4   c.*2290A>G
NM_000849.5   c.*2290A>G
NR_024537.1   n.3202A>G|SEQ=[T/C]|GENE=GSTM3

rs1571858

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

NC_000001.11   g.109737292C>A
NC_000001.11   g.109737292C>G
NC_000001.11   g.109737292C>T
NC_000001.10   g.110279914C>A
NC_000001.10   g.110279914C>G
NC_000001.10   g.110279914C>T|SEQ=[C/A/G/T]|GENE=GSTM3

rs1799964

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

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

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

rs180113

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

NC_000017.11   g.69928988T>C
NC_000017.10   g.67925129T>C|SEQ=[T/C]

Protein Summary

• Protein general information: Q12979  
  • Name: Active breakpoint cluster region related protein
  • Length: 859  
  • Mass: 97598
  • Tissue specificity: Highly enriched in the brain. Much weaker expression in heart, lung and muscle.
• Sequence:

  MEPLSHRGLPRLSWIDTLYSNFSYGTDEYDGEGNEEQKGPPEGSETMPYIDESPTMSPQLSARSQGGGDGVSPTP
  PEGLAPGVEAGKGLEMRKLVLSGFLASEEIYINQLEALLLPMKPLKATATTSQPVLTIQQIETIFYKIQDIYEIH
  KEFYDNLCPKVQQWDSQVTMGHLFQKLASQLGVYKAFVDNYKVALETAEKCSQSNNQFQKISEELKVKGPKDSKD
  SHTSVTMEALLYKPIDRVTRSTLVLHDLLKHTPVDHPDYPLLQDALRISQNFLSSINEDIDPRRTAVTTPKGETR
  QLVKDGFLVEVSESSRKLRHVFLFTDVLLCAKLKKTSAGKHQQYDCKWYIPLADLVFPSPEESEASPQVHPFPDH
  ELEDMKMKISALKSEIQKEKANKGQSRAIERLKKKMFENEFLLLLNSPTIPFRIHNRNGKSYLFLLSSDYERSEW
  REAIQKLQKKDLQAFVLSSVELQVLTGSCFKLRTVHNIPVTSNKDDDESPGLYGFLHVIVHSAKGFKQSANLYCT
  LEVDSFGYFVSKAKTRVFRDTAEPKWDEEFEIELEGSQSLRILCYEKCYDKTKVNKDNNEIVDKIMGKGQIQLDP
  QTVETKNWHTDVIEMNGIKVEFSMKFTSRDMSLKRTPSKKQTGVFGVKISVVTKRERSKVPYIVRQCVEEVEKRG
  IEEVGIYRISGVATDIQALKAVFDANNKDILLMLSDMDINAIAGTLKLYFRELPEPLLTDRLYPAFMEGIALSDP
  AAKENCMMHLLRSLPDPNLITFLFLLEHLKRVAEKEPINKMSLHNLATVFGPTLLRPSEVESKAHLTSAADIWSH
  DVMAQVQVLLYYLQHPPISFAELKRNTLYFSTDV

• Structural information:
  • Protein Domains: (91..28-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (301..45-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (484..61-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (647..8-)
  • Interpro: IPR037769  IPR037865  IPR000008  IPR035892  IPR035899   IPR000219  IPR001331  IPR001849  IPR008936  IPR000198  
  • Prosite: PS50004 PS00741 PS50010 PS50003 PS50238
  • CDD: cd13366 cd00160
  • STRING: ENSP00000303909
• Other Databases: GeneCards:  ABR  Malacards:  ABR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IBA	cellular component
GO:0090630	activation of GTPase activity	IDA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0099092	postsynaptic density, intracellular component	ISS	cellular component
GO:0098978	glutamatergic synapse	ISS	cellular component
GO:0098978	glutamatergic synapse	ISS	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	ISS	cellular component
GO:0050804	modulation of chemical synaptic transmission	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0007264	small GTPase mediated signal transduction	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0043114	regulation of vascular permeability	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0060313	negative regulation of blood vessel remodeling	IEA	biological process
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0050766	positive regulation of phagocytosis	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0043314	negative regulation of neutrophil degranulation	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0002692	negative regulation of cellular extravasation	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray