SPATA31A7 (SPATA31 subfamily A member 7)

2014-11-01  

Identity

HGNC
SPATA31A7
LOCATION
9q12
LOCUSID
26165
ALIAS
AEP1,C9orf36,C9orf36A,FAM75A4,FAM75A7,SPATA31A4

Other Information

Locus ID:

NCBI: 26165
MIM: 616584
HGNC: 32007
Ensembl: ENSG00000276040

Variants:

dbSNP: 26165
ClinVar: 26165
TCGA: ENSG00000276040
COSMIC: SPATA31A7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000276040ENST00000619167Q8IWB4

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
169246572006Acrosome-specific gene AEP1: identification, characterization and roles in spermatogenesis.5
208504142010The testis-specific VAD1.3/AEP1 interacts with β-actin and syntaxin 1 and directs peri-nuclear/Golgi expression with bipartite nucleus localization (BNL) sequence.2

Citation

Dessen P

SPATA31A7 (SPATA31 subfamily A member 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74128/spata31a7