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Symbol report for ACTN3

HGNC data for ACTN3

Approved symbol
ACTN3
Approved name

actinin alpha 3

Locus type
gene with protein product
HGNC ID
HGNC:165
Symbol status
Approved
Previous names
actinin, alpha 3
actinin alpha 3 (gene/pseudogene)
Chromosomal location
11q13.2
Gene groups
Curator notes

This gene has been found to be protein coding in some individuals and pseudogenized in others.
Gene resources for ACTN3
Ensembl
ENSG00000248746 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
89 Curated
UCSC
uc021qlz.4
Alliance of Genome Resources
HGNC:165
Nucleotide resources for ACTN3
MANE Select
NM_001104.4
ENST00000513398.2
INSDC
M86407 Curated
ENAGenBankDDBJ
RefSeq
NM_001104 Curated
NCBI sequence viewer
Protein resources for ACTN3
UniProt/Swiss-Prot
Q08043
InterProPDBeReactome
AlphaFold
AF-Q08043-F1
Orthologs from selected species for ACTN3
Bos taurus
ACTN3 VGNC:53654 VGNC
Canis familiaris
ACTN3 VGNC:54902 VGNC
Equus caballus
ACTN3 VGNC:57328 VGNC
Felis catus
ACTN3 VGNC:99807 VGNC
Macaca mulatta
ACTN3 VGNC:99537 VGNC
Mus musculus
Actn3 MGI:99678 Curated
Rattus norvegicus
Actn3 RGD:621792
Sus scrofa
ACTN3 VGNC:96785 VGNC
Clinical resources for ACTN3
OMIM
102574
MedlinePlus
Search via ACTN3
DECIPHER
Search via ACTN3
ClinGen
Search via HGNC:165
Genetic Testing Registry
Search via NCBI Gene ID 89
ClinVar
Search via NCBI Gene ID 89
dbVar
Search via NCBI Gene ID 89
Other resources for ACTN3
AmiGO
Search via Q08043
QuickGO
Search via Q08043
BioGPS
Search via NCBI Gene ID 89
GeneCards
Search via HGNC:165
Monarch
Search via HGNC:165
WikiGenes
Search via NCBI Gene ID 89
References for ACTN3