SPATA17 (spermatogenesis associated 17)

2014-11-01  

Identity

HGNC
SPATA17
LOCATION
1q41
LOCUSID
128153
ALIAS
CFAP305,FAP305,IQCH,MOT17,MSRG-11,MSRG11
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 128153
MIM: 611032
HGNC: 25184
Ensembl: ENSG00000162814

Variants:

dbSNP: 128153
ClinVar: 128153
TCGA: ENSG00000162814
COSMIC: SPATA17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162814ENST00000366933Q96L03
ENSG00000162814ENST00000470448R4GN71

Expression (GTEx)

0
5
10
15
20
25
30
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

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

References

Pubmed IDYearTitleCitations
196802702009Identification of novel candidate loci for anorexia nervosa at 1q41 and 11q22 in Japanese by a genome-wide association analysis with microsatellite markers.13
194837142009A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest.5
194837142009A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest.5
230797162013Overexpression of human SPATA17 protein induces germ cell apoptosis in transgenic male mice.5

Citation

Dessen P

SPATA17 (spermatogenesis associated 17)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74118/spata17