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Gene id

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 (38647615: 38730531) 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 types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes. Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]

OMIM

604638

SNPs

rs6277

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp


NC_000011.9   g.113283459G>A
NC_000011.10   g.113412737G>A
NG_008841.1   g.67543C>T
NM_000795.3   c.957C>T
NM_016574.3   c.870C>T
NP_057658.2   p.Pro290=
NP_000786.1   p.Pro319=
XM_005271425.1   c.957C>T
XM_005271426.1   c.954C>T
XM_017017296.1   c.957C>T
XP_005271483.1   p.P
Clinical Significance: Benign

rs12483377

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

CM000683.2   g.45511195G>A
NC_000021.8   g.46931109G>A
NC_000021.9   g.45511195G>A
NG_011903.1   g.111004G>A
NG_028278.2   g.56949C>T
NM_030582.3   c.4309G>A
NM_130444.2   c.5014G>A
NM_130445.2   c.3769G>A
NM_130445.3   c.3769G>A
NP_085059.2   p.Asp1437Asn
NP_569711.2   p.Asp1672Asn
NP_569712.2   p.Asp1257Asn
XP_005261235.1   p.Asp1441Asn
XP_005261236.1   p.Asp1429Asn
XP_005261237.1   p.Asp1408Asn
XP_005261238.1   p.Asp1261Asn
XP_005261239.1   p.Asp1253Asn
Clinical Significance: Pathogenic

rs2283265

Strand: -   Allele origin: unknown  Allele change: G/T   Mutation type: snp

NC_000011.9   g.113285536C>A
NC_000011.10   g.113414814C>A
NG_008841.1   g.65466G>T
NM_000795.3   c.724-353G>T
NM_016574.3   c.723+607G>T
XM_005271425.1   c.724-353G>T
XM_005271426.1   c.721-353G>T
XM_017017296.1   c.724-353G>T
rs4245146

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp


NC_000011.9   g.113317973T>C
NC_000011.10   g.113447251T>C
NG_008841.1   g.33029A>G
NM_000795.3   c.-31-22569A>G
NM_016574.3   c.-31-22569A>G
XM_005271425.1   c.-31-22569A>G
XM_017017296.1   c.-31-22569A>G
rs4648317

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000011.10   g.113460810G>A
NC_000011.9   g.113331532G>A
NG_008841.1   g.19470C>T
NM_000795.3   c.-32+14266C>T
NM_016574.3   c.-32+14266C>T
XM_005271425.1   c.-32+14848C>T
XM_017017296.1   c.-32+13420C>T
rs680

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000673.2   g.2132404T>C
NC_000011.10   g.2132404T>C
NC_000011.9   g.2153634T>C
NC_000011.9   g.2153634T>G
NG_008849.1   g.22200A>C
NG_008849.1   g.22200A>G
NG_050578.1   g.33806A>C
NG_050578.1   g.33806A>G
NM_000612.5   c.*583A>C
NM_000612.5   c.*583A>G
NM_001007139.5   c.*583A>C
NM_001007139.5   c.*583A>G
NM_001127598.2   c.*583A>C
NM_001127598.2   c.*583A>G
NM_001291861.2   c.*583A>C
NM_001291861.2   c.*583A>G
NM_001291862.2   c.*583A>C
NM_001291862.2   c.*583A>G
NR_003512.3   n.1840A>C
NR_003512.3   n.1840A>G

Protein Summary

Protein general information

O43707

Name: Alpha actinin 4 (Non muscle alpha actinin 4)

Length: 911 Mass: 104,854

Tissue specificity: Widely expressed. {ECO

Sequence

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

Structural information

Protein Domains	Actin-binding (1-269) CH (50-154) CH (163-269) EF-hand (765-800) EF-hand (806-841)
Motifs	LXXLL motif.(84-88)
Interpro:	IPR001589 IPR001715 IPR011992 IPR014837 IPR018247 IPR002048 IPR018159 IPR002017
Prosite:	PS00019 PS00020 PS50021 PS00018 PS50222
Pfam:	PF00307 PF08726 PF00435
CDD:	cd00014 cd00051
PDB:	1WLX 1YDI 2R0O
PDBsum:	1WLX 1YDI 2R0O
DIP:	33179
MINT:	4998602
STRING:	ENSP00000252699;

Other Databases

GeneCards: ACTN4; Malacards: ACTN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IDA	molecular_function
GO:0001666	response to hypoxia	IEA	biological_process
GO:0001725	stress fiber	IEA	cellular_component
GO:0001882	nucleoside binding	IDA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0003779	actin binding	TAS	molecular_function
GO:0005178	integrin binding	TAS	molecular_function
GO:0005509	calcium ion binding	IEA	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:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005622	intracellular	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005903	brush border	IEA	cellular_component
GO:0005911	cell-cell junction	IEA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0015031	protein transport	IEA	biological_process
GO:0030018	Z disc	IEA	cellular_component
GO:0030050	vesicle transport along a ctin filament	IMP	biological_process
GO:0030335	positive regulation of ce ll migration	IMP	biological_process
GO:0030374	ligand-dependent nuclear receptor transcription co activator activity	IMP	molecular_function
GO:0030529	intracellular ribonucleop rotein complex	IDA	cellular_component
GO:0030863	cortical cytoskeleton	IEA	cellular_component
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0031143	pseudopodium	TAS	cellular_component
GO:0031490	chromatin DNA binding	IDA	molecular_function
GO:0032417	positive regulation of so dium:proton antiporter ac tivity	NAS	biological_process
GO:0035257	nuclear hormone receptor binding	IPI	molecular_function
GO:0035357	peroxisome proliferator a ctivated receptor signali ng pathway	IDA	biological_process
GO:0042803	protein homodimerization activity	TAS	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0042974	retinoic acid receptor bi nding	IPI	molecular_function
GO:0042981	regulation of apoptotic p rocess	NAS	biological_process
GO:0043005	neuron projection	IEA	cellular_component
GO:0043234	protein complex	IDA	cellular_component
GO:0044325	ion channel binding	IPI	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0047485	protein N-terminus bindin g	IEA	molecular_function
GO:0048384	retinoic acid receptor si gnaling pathway	IDA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0048549	positive regulation of pi nocytosis	IEA	biological_process
GO:0051015	actin filament binding	IDA	molecular_function
GO:0051015	actin filament binding	IMP	molecular_function
GO:0051017	actin filament bundle ass embly	IEA	biological_process
GO:0051271	negative regulation of ce llular component movement	IEA	biological_process
GO:0051272	positive regulation of ce llular component movement	IMP	biological_process
GO:0051272	positive regulation of ce llular component movement	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070830	bicellular tight junction assembly	IEA	biological_process
GO:1900025	negative regulation of su bstrate adhesion-dependen t cell spreading	IMP	biological_process
GO:1901224	positive regulation of NI K/NF-kappaB signaling	IMP	biological_process
GO:1902396	protein localization to b icellular tight junction	IEA	biological_process
GO:1903506	regulation of nucleic aci d-templated transcription	IMP	biological_process
GO:0015629	actin cytoskeleton	IDA	cellular_component
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IDA	molecular_function
GO:0001666	response to hypoxia	IEA	biological_process
GO:0001725	stress fiber	IEA	cellular_component
GO:0001882	nucleoside binding	IDA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0003779	actin binding	IEA	molecular_function
GO:0003779	actin binding	TAS	molecular_function
GO:0005178	integrin binding	TAS	molecular_function
GO:0005509	calcium ion binding	IEA	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:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005622	intracellular	IEA	cellular_component
GO:0005622	intracellular	IDA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005903	brush border	IEA	cellular_component
GO:0005911	cell-cell junction	IEA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006810	transport	IEA	biological_process
GO:0015031	protein transport	IEA	biological_process
GO:0030018	Z disc	IEA	cellular_component
GO:0030050	vesicle transport along a ctin filament	IMP	biological_process
GO:0030054	cell junction	IEA	cellular_component
GO:0030054	cell junction	IEA	cellular_component
GO:0030335	positive regulation of ce ll migration	IMP	biological_process
GO:0030374	ligand-dependent nuclear receptor transcription co activator activity	IMP	molecular_function
GO:0030529	intracellular ribonucleop rotein complex	IDA	cellular_component
GO:0030863	cortical cytoskeleton	IEA	cellular_component
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0031143	pseudopodium	IEA	cellular_component
GO:0031143	pseudopodium	TAS	cellular_component
GO:0031490	chromatin DNA binding	IDA	molecular_function
GO:0032403	protein complex binding	IEA	molecular_function
GO:0032417	positive regulation of so dium:proton antiporter ac tivity	NAS	biological_process
GO:0035257	nuclear hormone receptor binding	IPI	molecular_function
GO:0035357	peroxisome proliferator a ctivated receptor signali ng pathway	IDA	biological_process
GO:0042803	protein homodimerization activity	TAS	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0042974	retinoic acid receptor bi nding	IPI	molecular_function
GO:0042981	regulation of apoptotic p rocess	IEA	biological_process
GO:0042981	regulation of apoptotic p rocess	NAS	biological_process
GO:0043005	neuron projection	IEA	cellular_component
GO:0043234	protein complex	IEA	cellular_component
GO:0043234	protein complex	IDA	cellular_component
GO:0044325	ion channel binding	IPI	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0047485	protein N-terminus bindin g	IEA	molecular_function
GO:0048384	retinoic acid receptor si gnaling pathway	IDA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0048549	positive regulation of pi nocytosis	IEA	biological_process
GO:0051015	actin filament binding	IEA	molecular_function
GO:0051015	actin filament binding	IEA	molecular_function
GO:0051015	actin filament binding	IDA	molecular_function
GO:0051015	actin filament binding	IMP	molecular_function
GO:0051017	actin filament bundle ass embly	IEA	biological_process
GO:0051271	negative regulation of ce llular component movement	IEA	biological_process
GO:0051272	positive regulation of ce llular component movement	IEA	biological_process
GO:0051272	positive regulation of ce llular component movement	IMP	biological_process
GO:0051272	positive regulation of ce llular component movement	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070830	bicellular tight junction assembly	IEA	biological_process
GO:0070830	bicellular tight junction assembly	IEA	biological_process
GO:1900025	negative regulation of su bstrate adhesion-dependen t cell spreading	IMP	biological_process
GO:1901224	positive regulation of NI K/NF-kappaB signaling	IMP	biological_process
GO:1902396	protein localization to b icellular tight junction	IEA	biological_process
GO:1902396	protein localization to b icellular tight junction	IEA	biological_process
GO:1903506	regulation of nucleic aci d-templated transcription	IMP	biological_process
GO:0015629	actin cytoskeleton	IDA	cellular_component
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	IDA	molecular_function
GO:0001882	nucleoside binding	IDA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0003779	actin binding	TAS	molecular_function
GO:0005178	integrin binding	TAS	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:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005622	intracellular	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0030050	vesicle transport along a ctin filament	IMP	biological_process
GO:0030335	positive regulation of ce ll migration	IMP	biological_process
GO:0030374	ligand-dependent nuclear receptor transcription co activator activity	IMP	molecular_function
GO:0030529	intracellular ribonucleop rotein complex	IDA	cellular_component
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0031143	pseudopodium	TAS	cellular_component
GO:0031490	chromatin DNA binding	IDA	molecular_function
GO:0032417	positive regulation of so dium:proton antiporter ac tivity	NAS	biological_process
GO:0035257	nuclear hormone receptor binding	IPI	molecular_function
GO:0035357	peroxisome proliferator a ctivated receptor signali ng pathway	IDA	biological_process
GO:0042803	protein homodimerization activity	TAS	molecular_function
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0042974	retinoic acid receptor bi nding	IPI	molecular_function
GO:0042981	regulation of apoptotic p rocess	NAS	biological_process
GO:0043234	protein complex	IDA	cellular_component
GO:0044325	ion channel binding	IPI	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0048384	retinoic acid receptor si gnaling pathway	IDA	biological_process
GO:0048471	perinuclear region of cyt oplasm	IDA	cellular_component
GO:0051015	actin filament binding	IDA	molecular_function
GO:0051015	actin filament binding	IMP	molecular_function
GO:0051272	positive regulation of ce llular component movement	IMP	biological_process
GO:0051272	positive regulation of ce llular component movement	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1900025	negative regulation of su bstrate adhesion-dependen t cell spreading	IMP	biological_process
GO:1901224	positive regulation of NI K/NF-kappaB signaling	IMP	biological_process
GO:1903506	regulation of nucleic aci d-templated transcription	IMP	biological_process
GO:0015629	actin cytoskeleton	IDA	cellular_component

KEGG pathways

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

Diseases

Associated diseases	References
Endometriosis	PMID: 19055724
Focal segmental glomerulosclerosis	KEGG: H00626
Premature�ovarian failure (POF)	PMID: 21890413
Endometriosis	INFBASE19055724

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19055724	Endometrio sis			4 (3 endometrio tic tissues, 1 normal tissue)		MMP1 MMP2 MMP3 MMP10 MMP11 MMP14 IGF2 ACTN4 AXL and SHC1	Show abstract