SPATA18 (spermatogenesis associated 18)

2012-06-01  

Identity

HGNC
SPATA18
LOCATION
4q12
LOCUSID
132671
ALIAS
Mieap,SPETEX1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 132671
MIM: 612814
HGNC: 29579
Ensembl: ENSG00000163071

Variants:

dbSNP: 132671
ClinVar: 132671
TCGA: ENSG00000163071
COSMIC: SPATA18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163071ENST00000295213Q8TC71
ENSG00000163071ENST00000295213A0A140VKF4
ENSG00000163071ENST00000419395Q8TC71
ENSG00000163071ENST00000503055D6RAW7
ENSG00000163071ENST00000505038D6RAX6
ENSG00000163071ENST00000505320E7EVV3
ENSG00000163071ENST00000508915D6RGI2

Expression (GTEx)

0
50
100
150
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
212642282011Mieap, a p53-inducible protein, controls mitochondrial quality by repairing or eliminating unhealthy mitochondria.35
212642212011Possible existence of lysosome-like organella within mitochondria and its role in mitochondrial quality control.30
222920332012BNIP3 and NIX mediate Mieap-induced accumulation of lysosomal proteins within mitochondria.16
213007792011SPATA18, a spermatogenesis-associated gene, is a novel transcriptional target of p53 and p63.13
160889062005Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.4
302900542018Possible role of p53/Mieap-regulated mitochondrial quality control as a tumor suppressor in human breast cancer.3

Citation

Dessen P

SPATA18 (spermatogenesis associated 18)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52741/spata18