TMEM231 (transmembrane protein 231)

2014-11-01  

Identity

HGNC
TMEM231
LOCATION
16q23.1
LOCUSID
79583
ALIAS
ALYE870,JBTS20,MKS11,PRO1886
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79583
MIM: 614949
HGNC: 37234
Ensembl: ENSG00000205084

Variants:

dbSNP: 79583
ClinVar: 79583
TCGA: ENSG00000205084
COSMIC: TMEM231

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205084ENST00000258173Q9H6L2
ENSG00000205084ENST00000562410H3BMW7
ENSG00000205084ENST00000565067H3BTN6
ENSG00000205084ENST00000568377Q9H6L2
ENSG00000205084ENST00000570006H3BPY4
ENSG00000205084ENST00000615437A0A087WW60

Expression (GTEx)

0
5
10
15
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
258696702015TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.43
230124392012Mutations in TMEM231 cause Joubert syndrome in French Canadians.25
233492262013Mutations in TMEM231 cause Meckel-Gruber syndrome.9
274493162016TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.4

Citation

Dessen P

TMEM231 (transmembrane protein 231)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74895/tmem231-(transmembrane-protein-231)