TMEM67 (transmembrane protein 67)

2014-08-01  

Identity

HGNC
TMEM67
LOCATION
8q22.1
LOCUSID
91147
ALIAS
JBTS6,MECKELIN,MKS3,NPHP11,TNEM67
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91147
MIM: 609884
HGNC: 28396
Ensembl: ENSG00000164953

Variants:

dbSNP: 91147
ClinVar: 91147
TCGA: ENSG00000164953
COSMIC: TMEM67

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164953ENST00000323130A0A0C4DFP8
ENSG00000164953ENST00000409623Q5HYA8
ENSG00000164953ENST00000452276C9JRQ8
ENSG00000164953ENST00000453321Q5HYA8
ENSG00000164953ENST00000453906C9JHI2
ENSG00000164953ENST00000455946F8WCQ6
ENSG00000164953ENST00000518319E5RG10
ENSG00000164953ENST00000520680H0YB69
ENSG00000164953ENST00000521065H0YAR5
ENSG00000164953ENST00000521222E5RH38
ENSG00000164953ENST00000521517H0YC18

Expression (GTEx)

0
5
10
15
20
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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

References

Pubmed IDYearTitleCitations
356210372022Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.1
363344402022TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia.2
356210372022Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.1
363344402022TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia.2
320007172020Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.5
321565982020TACC3 promotes prostate cancer cell proliferation and restrains primary cilium formation.18
320007172020Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.5
321565982020TACC3 promotes prostate cancer cell proliferation and restrains primary cilium formation.18
298918822018Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.7
298918822018Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.7
281613242017Low expression of TMEM67 is a critical predictor of poor prognosis in human urothelial carcinoma of the bladder.0
287199062017A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.6
288605412017Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.8
291467042017Prospective Evaluation of Kidney Disease in Joubert Syndrome.38
281613242017Low expression of TMEM67 is a critical predictor of poor prognosis in human urothelial carcinoma of the bladder.0

Citation

Dessen P

TMEM67 (transmembrane protein 67)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54715/tmem67-(transmembrane-protein-67)