• Gene id: 81

Gene Summary

• Gene Symbol: ACTN4   Gene   UCSC   Ensembl
• Aliases: ACTININ-4, FSGS, FSGS1
• Gene name: actinin alpha 4
• Alternate names: alpha-actinin-4, focal segmental glomerulosclerosis 1, non-muscle alpha-actinin 4,
• Gene location: 19q13.2 (38647648: 38731588)     Exons: 23     NC_000019.10
• Gene summary(Entrez): Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell typ
• OMIM: 602705

SNPs

rs1131692251

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

NC_000003.12   g.52357615T>G
NC_000003.11   g.52391631T>G
NG_052911.1   g.46297T>G
NM_015512.5   c.3860T>G
NM_015512.4   c.3860T>G
XR_001740098.1   n.7009T>G
XM_017006129.1   c.3860T>G
XM_017006130.1   c.3860T>G
XM_017006131.1   c.3860T>G
XR_001740099.1   n.7009T>G
XM_0  

rs1131692250

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

NC_000003.12   g.52386159G>A
NC_000003.12   g.52386159G>C
NC_000003.11   g.52420175G>A
NC_000003.11   g.52420175G>C
NG_052911.1   g.74841G>A
NG_052911.1   g.74841G>C|SEQ=[G/A/C]|GENE=DNAH1

rs1131692234

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

NC_000003.12   g.52397706G>A
NC_000003.11   g.52431722G>A
NG_052911.1   g.86388G>A|SEQ=[G/A]|GENE=DNAH1

rs779490893

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

NC_000003.12   g.52396983_52396984del
NC_000003.11   g.52430999_52431000del
NG_052911.1   g.85665_85666del
NM_015512.5   c.11726_11727del
NM_015512.4   c.11726_11727del
XR_001740098.1   n.14944_14945del
XM_017006129.1   c.11795_11796del
XM_017006130.1   c.11726_1172

rs777105668

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

NC_000003.12   g.184354548C>T
NC_000003.11   g.184072336C>T
NG_016422.1   g.12056G>A
NM_004366.6   c.1507G>A
NM_004366.5   c.1507G>A
NM_001171087.3   c.1456G>A
NM_001171087.2   c.1456G>A
NM_001171089.3   c.1507G>A
NM_001171089.2   c.1507G>A
NM_001171088.3   c.1375G>A
NM  

rs140883175

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

NC_000003.12   g.52357632G>A
NC_000003.12   g.52357632G>C
NC_000003.11   g.52391648G>A
NC_000003.11   g.52391648G>C
NG_052911.1   g.46314G>A
NG_052911.1   g.46314G>C
NM_015512.5   c.3877G>A
NM_015512.5   c.3877G>C
NM_015512.4   c.3877G>A
NM_015512.4   c.3877G>C
XR_00174  

rs11467497

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

NC_000020.11   g.145515_145518CAAA[1]
NC_000020.10   g.126156_126159CAAA[1]
NM_030931.4   c.159_162CAAA[1]
NM_030931.3   c.159_162CAAA[1]
NP_112193.1   p.Gln55fs|SEQ=[CAAA/-]|GENE=DEFB126

rs10129954

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

NC_000014.9   g.72683993C>T
NC_000014.8   g.73150701C>T|SEQ=[C/T]|GENE=DPF3

rs7969759

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

NC_000012.12   g.67435923G>A
NC_000012.11   g.67829703G>A|SEQ=[G/A]|GENE=LOC105369812

rs6897876

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

NC_000005.10   g.142308074T>C
NC_000005.10   g.142308074T>G
NC_000005.9   g.141687639T>C
NC_000005.9   g.141687639T>G|SEQ=[T/C/G]

rs3819392

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

NC_000004.12   g.54660528G>A
NC_000004.11   g.55526694G>A
NG_007456.1   g.7534G>A|SEQ=[G/A]|GENE=KIT

rs2664155

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

NC_000019.10   g.50873774G>A
NC_000019.9   g.51377030G>A
NG_031984.1   g.5342G>A|SEQ=[G/A]|GENE=KLK2

rs1805388

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

NC_000013.11   g.108211243G>A
NC_000013.10   g.108863591G>A
NG_007396.1   g.9292C>T
NM_002312.3   c.26C>T
NM_001352599.2   c.26C>T
NM_001352599.1   c.26C>T
NM_001352598.2   c.26C>T
NM_001352598.1   c.26C>T
NM_001352600.2   c.26C>T
NM_001352600.1   c.26C>T
NM_001352601.2  

rs6631

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

NC_000006.12   g.87085541A>C
NC_000006.12   g.87085541A>T
NC_000006.11   g.87795259A>C
NC_000006.11   g.87795259A>T
NM_000735.3   c.*215T>G
NM_000735.3   c.*215T>A
NM_000735.4   c.*215T>G
NM_000735.4   c.*215T>A
NM_001252383.1   c.*215T>G
NM_001252383.1   c.*215T>A
NM_0  

rs1042157

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

NC_000016.10   g.28605736G>A
NC_000016.10   g.28605736G>C
NC_000016.9   g.28617057G>A
NC_000016.9   g.28617057G>C
NG_028128.1   g.22810C>T
NG_028128.1   g.22810C>G
NM_177536.3   c.*85C>T
NM_177536.3   c.*85C>G
NM_001055.3   c.*85C>T
NM_001055.3   c.*85C>G
NM_177534.2   c.

rs2369679

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

NC_000014.9   g.96456415C>G
NC_000014.9   g.96456415C>T
NC_000014.8   g.96922752C>G
NC_000014.8   g.96922752C>T
NG_054631.1   g.69305C>G
NG_054631.1   g.69305C>T
NM_152327.5   c.1167C>G
NM_152327.5   c.1167C>T
NM_152327.4   c.1167C>G
NM_152327.4   c.1167C>T
NM_152327.3  

rs4938723

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

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

rs3134885

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

NC_000004.12   g.54701722A>C
NC_000004.11   g.55567888A>C
NG_007456.1   g.48728A>C|SEQ=[A/C]|GENE=KIT

rs2237012

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

NC_000004.12   g.54733832A>G
NC_000004.11   g.55599998A>G
NG_007456.1   g.80838A>G|SEQ=[A/G]|GENE=KIT

rs140685149

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

NC_000020.11   g.145673_145674del
NC_000020.11   g.145674del
NC_000020.11   g.145674dup
NC_000020.10   g.126314_126315del
NC_000020.10   g.126315del
NC_000020.10   g.126315dup
NM_030931.4   c.317_318del
NM_030931.4   c.318del
NM_030931.4   c.318dup
NM_030931.3   c.317_3

rs140132974

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

NC_000009.12   g.135697628C>T
NC_000009.11   g.138589474C>T
NG_033070.1   g.444C>T
NG_033784.1   g.6901G>A|SEQ=[C/T]|GENE=SOHLH1

rs779944215

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

NC_000001.11   g.167880125_167880126GT[1]
NC_000001.10   g.167849363_167849364GT[1]
NG_016139.1   g.39088_39089AC[1]
NM_018417.6   c.1203_1204AC[1]
NM_018417.5   c.1203_1204AC[1]
NM_018417.4   c.1203_1204AC[1]
NM_001167749.3   c.744_745AC[1]
NM_001167749.2   c.744_7

rs34605051

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

NC_000002.12   g.86466703T>C
NC_000002.11   g.86693826T>C
NG_047167.1   g.31057T>C
NM_018433.6   c.1339T>C
NM_018433.5   c.1339T>C
NM_001146688.1   c.1339T>C
XM_006712051.4   c.-637T>C
XM_024452995.1   c.1339T>C
XM_024452994.1   c.1339T>C
XM_017004494.1   c.484T>C
XM_02  

Protein Summary

• Protein general information: O43707  
  • Name: Alpha actinin 4 (Non muscle alpha actinin 4)
  • Length: 911  
  • Mass: 104854
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENID
  EDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIASKGVKLVSIGAEEIVDGNAKMTLGMIWTII
  LRFAIQDISVEETSAKEGLLLWCQRKTAPYKNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLN
  NAFEVAEKYLDIPKMLDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYEK
  LASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTLQTKLRLSNRPAFMPS
  EGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQKASIHEAWTDGKEAMLKHRDYETATLSDIK
  ALIRKHEAFESDLAAHQDRVEQIAAIAQELNELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEA
  IDQLHLEYAKRAAPFNNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAES
  NHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANVVGPWIQTKMEEIGRI
  SIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIFDNKHTNYTMEHIRVGWEQLLTTIARTINEV
  ENQILTRDAKGISQEQMQEFRASFNHFDKDHGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGL
  VTFQAFIDFMSRETTDTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKS
  FSTALYGESDL

• Structural information:
  • Protein Domains: (50..15-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (163..26-)
    2 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (765..80-)
    (/note="EF-hand-1)
    (/evidence="E-)
  • Interpro: IPR001589  IPR001715  IPR036872  IPR011992  IPR014837   IPR018247  IPR002048  IPR018159  IPR002017  
  • Prosite: PS00019 PS00020 PS50021 PS00018 PS50222
  • CDD: cd00014 cd00051
  • PDB: 1WLX 1YDI 2R0O
  • PDBsum: 1WLX 1YDI 2R0O
  • DIP: 33179
  • STRING: ENSP00000252699
• Other Databases: GeneCards:  ACTN4  Malacards:  ACTN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035357	peroxisome proliferator activated receptor signaling pathway	IDA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903506	regulation of nucleic acid-templated transcription	IMP	biological process
GO:0030374	nuclear receptor transcription coactivator activity	IMP	molecular function
GO:0042974	retinoic acid receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	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: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
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
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
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
GO:0005515	protein binding	IPI	molecular function
GO:0051272	positive regulation of cellular component movement	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0005911	cell-cell junction	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:1902396	protein localization to bicellular tight junction	IEA	biological process
GO:0070830	bicellular tight junction assembly	IEA	biological process
GO:0051271	negative regulation of cellular component movement	IEA	biological process
GO:0051017	actin filament bundle assembly	IEA	biological process
GO:0048549	positive regulation of pinocytosis	IEA	biological process
GO:0031143	pseudopodium	IEA	cellular component
GO:0030863	cortical cytoskeleton	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001725	stress fiber	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042981	regulation of apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001725	stress fiber	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0051272	positive regulation of cellular component movement	IDA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:0001882	nucleoside binding	IDA	molecular function
GO:0033209	tumor necrosis factor-mediated signaling pathway	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0015629	actin cytoskeleton	IDA	colocalizes with
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032417	positive regulation of sodium:proton antiporter activity	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function
GO:0005737	cytoplasm	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0044325	ion channel binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051272	positive regulation of cellular component movement	IMP	biological process
GO:0003779	actin binding	TAS	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0042981	regulation of apoptotic process	NAS	biological process
GO:0031143	pseudopodium	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005178	integrin binding	TAS	molecular function
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0030050	vesicle transport along actin filament	IMP	biological process
GO:0051015	actin filament binding	IMP	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:1900025	negative regulation of substrate adhesion-dependent cell spreading	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa05203	Viral carcinogenesis
hsa04530	Tight junction
hsa05322	Systemic lupus erythematosus
hsa04670	Leukocyte transendothelial migration
hsa05146	Amoebiasis
hsa04520	Adherens junction

Diseases

Associated diseases	References
Male factor infertility	MIK: 20231113
Asthenozoospermia	MIK: 20369545
Focal segmental glomerulosclerosis	KEGG:H00626
Focal segmental glomerulosclerosis	KEGG:H00626
focal segmental glomerulosclerosis	PMID:10700177
Asthenozoospermia	MIK: 20231113
Asthenozoospermia	MIK: 20369545
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq