STAC3 (SH3 and cysteine rich domain 3)

2021-06-01  

Identity

HGNC
LOCATION
12q13.3
LOCUSID
ALIAS
MYPBB,NAM

Other Information

Locus ID:

NCBI: 246329
MIM: 615521
HGNC: 28423
Ensembl: ENSG00000185482

Variants:

dbSNP: 246329
ClinVar: 246329
TCGA: ENSG00000185482
COSMIC: STAC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185482ENST00000332782Q96MF2
ENSG00000185482ENST00000332782A0A024RB38
ENSG00000185482ENST00000546246Q96MF2
ENSG00000185482ENST00000553489G3V5D4
ENSG00000185482ENST00000554578Q96MF2
ENSG00000185482ENST00000557176G3V2L9

Expression (GTEx)

0
500
1000
1500

References

Pubmed IDYearTitleCitations
360300032022STAC3 related congenital myopathy: A case series of seven Comorian patients.2
360300032022STAC3 related congenital myopathy: A case series of seven Comorian patients.2
334096562021Testicular STAC3 regulates Leydig cell steroidogenesis through potentiating mitochondrial membrane potential and StAR processing.2
334096562021Testicular STAC3 regulates Leydig cell steroidogenesis through potentiating mitochondrial membrane potential and StAR processing.2
324923702020Multiple Sequence Variants in STAC3 Affect Interactions with Ca(V)1.1 and Excitation-Contraction Coupling.9
324923702020Multiple Sequence Variants in STAC3 Affect Interactions with Ca(V)1.1 and Excitation-Contraction Coupling.9
305438362019STAC proteins: The missing link in skeletal muscle EC coupling and new regulators of calcium channel function.22
315599182019Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.0
318596252019[When all roads lead to Africa…].1
305438362019STAC proteins: The missing link in skeletal muscle EC coupling and new regulators of calcium channel function.22
315599182019Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.0
318596252019[When all roads lead to Africa…].1
301686602018STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.22
301686602018STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.22
287774912017Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.13

Citation

Dessen P

STAC3 (SH3 and cysteine rich domain 3)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58386/stac3-(sh3-and-cysteine-rich-domain-3)