Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81
Gene name Gene Name - the full gene name approved by the HGNC.
Actinin alpha 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ACTN4
Synonyms (NCBI Gene) Gene synonyms aliases
ACTININ-4, FSGS, FSGS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FSGS1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.2
Summary Summary 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 type
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs759055242 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023681 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT051940 hsa-let-7b-5p CLASH 23622248
MIRT051747 hsa-let-7c-5p CLASH 23622248
MIRT051105 hsa-miR-16-5p CLASH 23622248
MIRT050392 hsa-miR-23a-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
HDAC7 Repression 16980305
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604638 166 ENSG00000130402
Protein
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 comple
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
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9508771}.
Sequence
MVDYHAANQSYQYGPSSAGNGAGGGGSMGDYMAQEDDWDRDLLLDPAWEKQQRKTFTAWC
NSHLRKAGTQIENIDEDFRDGLKLMLLLEVISGERLPKPERGKMRVHKINNVNKALDFIA
SKGVKLVSIGAEEIVDGNAKMTLGMIWTIILRFAI
QDISVEETSAKEGLLLWCQRKTAPY
KNVNVQNFHISWKDGLAFNALIHRHRPELIEYDKLRKDDPVTNLNNAFEVAEKYLDIPKM
LDAEDIVNTARPDEKAIMTYVSSFYHAFSG
AQKAETAANRICKVLAVNQENEHLMEDYEK
LASDLLEWIRRTIPWLEDRVPQKTIQEMQQKLEDFRDYRRVHKPPKVQEKCQLEINFNTL
QTKLRLSNRPAFMPSEGKMVSDINNGWQHLEQAEKGYEEWLLN
EIRRLERLDHLAEKFRQ
KASIHEAWTDGKEAMLKHRDYETATLSDIKALIRKHEAFESDLAAHQDRVEQIAAIAQEL
NELDYYDSHNVNTRCQKICDQWDALGSLTHSRREALEK
TEKQLEAIDQLHLEYAKRAAPF
NNWMESAMEDLQDMFIVHTIEEIEGLISAHDQFKSTLPDADREREAILAIHKEAQRIAES
NHIKLSGSNPYTTVTPQIINSKWEKVQQLVPKRDHALLE
EQSKQQSNEHLRRQFASQANV
VGPWIQTKMEEIGRISIEMNGTLEDQLSHLKQYERSIVDYKPNLDLLEQQHQLIQEALIF
DNKHTNYTMEHIRVGWEQLLTTIARTINEVEN
QILTRDAKGISQEQMQEFRASFNHFDKD
HGGALGPEEFKACLISLGYDVENDRQGEAEFNRIMSLVDPNHSGLVTFQAFIDFMSRETT
DTDTADQVIASFKVLAGDKNFITAEELRRELPPDQAEYCIARMAPYQGPDAVPGALDYKS
FSTALYG
ESDL
Sequence length 911
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Nephrotic Syndrome familial idiopathic steroid-resistant nephrotic syndrome GenCC
Migraine with Aura Migraine with Aura GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Clear Cell Associate 19151661
Adenocarcinoma of Lung Associate 23899839, 34845792, 38517776
Albuminuria Associate 24103534
Arrhythmogenic Right Ventricular Dysplasia Associate 27613243
Brain Neoplasms Stimulate 25885339
Breast Neoplasms Associate 17052974, 17873890, 21078666, 30258071, 32265507, 9508771
Breast Neoplasms Stimulate 31054253
Burkitt Lymphoma Associate 27155012
Carcinogenesis Associate 17151021
Carcinoma Non Small Cell Lung Associate 25299231, 29251177, 36476259