SPATA7 (spermatogenesis associated 7)

2003-05-01  

Identity

HGNC
SPATA7
LOCATION
14q31.3
LOCUSID
55812
ALIAS
HEL-S-296,HSD-3.1,HSD3,LCA3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55812
MIM: 609868
HGNC: 20423
Ensembl: ENSG00000042317

Variants:

dbSNP: 55812
ClinVar: 55812
TCGA: ENSG00000042317
COSMIC: SPATA7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000042317ENST00000393545Q9P0W8
ENSG00000042317ENST00000393545V9HVY9
ENSG00000042317ENST00000553885G3V2E1
ENSG00000042317ENST00000553908G3V5V8
ENSG00000042317ENST00000554168G3V491
ENSG00000042317ENST00000554802H0YJ93
ENSG00000042317ENST00000555356G3V491
ENSG00000042317ENST00000555401G3V5N2
ENSG00000042317ENST00000555515G3V2V4
ENSG00000042317ENST00000555534G3V287
ENSG00000042317ENST00000555715G3V3D2
ENSG00000042317ENST00000556406H0YJ48
ENSG00000042317ENST00000556870G3V5H6
ENSG00000042317ENST00000557248G3V4A9
ENSG00000042317ENST00000557724G3V491

Expression (GTEx)

0
10
20
30
40
50
60
70
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
retina
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
192682772009Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.57
253989452015Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.25
213109152011Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.20
201045882010Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.14
127367792003A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis.11
258148282015Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.5
268549802016SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.5
221366772011Late onset retinitis pigmentosa.3
284811292018Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.1
294112052018Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.1

Citation

Dessen P

SPATA7 (spermatogenesis associated 7)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42371/spata7