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ACTN4 (actinin alpha 4)
Gene
Gene SNPs Transcription factors Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81
Gene nameGene Name - the full gene name approved by the HGNC.
Actinin alpha 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ACTN4
SynonymsGene synonyms aliases
ACTININ-4, FSGS, FSGS1
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
SummarySummary of gene provided in NCBI Entrez Gene.
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]
SNPsSNP information provided by dbSNP.
Gene SNPs Transcription factors Other IDs
SNP ID Visualize variation Clinical significance Consequence
rs759055242 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT023681 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT036683 hsa-miR-935 CLASH 23622248
MIRT037676 hsa-miR-744-5p CLASH 23622248
MIRT038369 hsa-miR-296-3p CLASH 23622248
MIRT039177 hsa-miR-769-5p CLASH 23622248
Transcription factors
Gene SNPs Transcription factors Other IDs
Transcription factor Regulation Reference
HDAC7 Repression 16980305
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 25411248
GO:0001666 Process Response to hypoxia IEA
GO:0001725 Component Stress fiber IEA
GO:0001882 Function Nucleoside binding IDA 12411747
GO:0002576 Process Platelet degranulation TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Transcription factors Other IDs
UniProt ID O43707
Protein name Alpha-actinin-4 (Non-muscle alpha-actinin 4)
Protein function F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (Probable). Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (PubMed:15772161). Involved in tight junction assembly in epithelial cells probably through interaction with MICALL2. Links MICALL2 to the actin cytoskeleton and recruits it to the tight junctions (By similarity). May also function as a transcriptional coactivator, stimulating transcription mediated by the nuclear hormone receptors PPARG and RARA (PubMed:22351778).
PDB 1WLX , 1YDI , 2R0O , 6O31 , 6OA6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH
50 → 155
Calponin homology (CH) domain
 Domain
PF00307 CH
163 → 270
Calponin homology (CH) domain
 Domain
PF00435 Spectrin
293 → 403
Spectrin repeat
 Domain
PF00435 Spectrin
413 → 518
Spectrin repeat
 Domain
PF00435 Spectrin
528 → 639
Spectrin repeat
 Domain
PF00435 Spectrin
649 → 752
Spectrin repeat
 Domain
PF08726 EFhand_Ca_insen
841 → 907
Ca2+ insensitive EF hand
 Domain
Sequence 
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWC
NSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIA
SKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKM
LDAEDIVNTARPDEKAIMTYVSSFYHAFSGAQKAETAANRICKVLAVNQENEHLMEDYEK
LASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL
QTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLNEIRRLERLDHLAEKFRQ
KASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQEL
NELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEKTEKQLEAIDQLHLEYAKRAAPF
NNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAES
NHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLEEQSKQQSNEHLRRQFASQANV
VGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIF
DNKHTNYTMEHIRVGWEQLLTTIARTINEVENQILTRDAKGISQEQMQEFRASFNHFDKD
HGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETT
DTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKS
FSTALYGESDL
Sequence length 911
Interactions View interactions

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