SPATA5 (spermatogenesis associated 5)

2014-11-01  

Identity

HGNC
SPATA5
LOCATION
4q28.1
LOCUSID
166378
ALIAS
AFG2,EHLMRS,SPAF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 166378
MIM: 613940
HGNC: 18119
Ensembl: ENSG00000145375

Variants:

dbSNP: 166378
ClinVar: 166378
TCGA: ENSG00000145375
COSMIC: SPATA5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145375ENST00000274008Q8NB90

Expression (GTEx)

0
1
2
3
4
5
6
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

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450761paclitaxelChemicalMultilinkAnnotationassociated24444404

References

Pubmed IDYearTitleCitations
262993662015Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.66
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
220278102012Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata.12
272469072016Characterization of SPATA5-related encephalopathy in early childhood.7
282938312017Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.2

Citation

Dessen P

SPATA5 (spermatogenesis associated 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74142/spata5