Identity
HGNC
LOCATION
8q22.1
LOCUSID
ALIAS
JBTS6,MECKELIN,MKS3,NPHP11,TNEM67
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 91147
MIM: 609884
HGNC: 28396
Ensembl: ENSG00000164953
Variants:
dbSNP: 91147
ClinVar: 91147
TCGA: ENSG00000164953
COSMIC: TMEM67
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Anchoring of the basal body to the plasma membrane | REACTOME | R-HSA-5620912 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35621037 | 2022 | Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis. | 1 |
| 36334440 | 2022 | TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia. | 2 |
| 35621037 | 2022 | Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis. | 1 |
| 36334440 | 2022 | TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia. | 2 |
| 32000717 | 2020 | Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report. | 5 |
| 32156598 | 2020 | TACC3 promotes prostate cancer cell proliferation and restrains primary cilium formation. | 18 |
| 32000717 | 2020 | Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report. | 5 |
| 32156598 | 2020 | TACC3 promotes prostate cancer cell proliferation and restrains primary cilium formation. | 18 |
| 29891882 | 2018 | Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. | 7 |
| 29891882 | 2018 | Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. | 7 |
| 28161324 | 2017 | Low expression of TMEM67 is a critical predictor of poor prognosis in human urothelial carcinoma of the bladder. | 0 |
| 28719906 | 2017 | A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. | 6 |
| 28860541 | 2017 | Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. | 8 |
| 29146704 | 2017 | Prospective Evaluation of Kidney Disease in Joubert Syndrome. | 38 |
| 28161324 | 2017 | Low 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/gene-fusions/meetings/
