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ACTN4 (actinin alpha 4)

Gene
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 type
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs759055242 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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

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