TMEM67
Sign in to saveAlso known as JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, transmembrane protein 67
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
In the Vinony graph
Within Vinony's link graph, TMEM67 is referenced by 66 other articles, and connects out to PubMed, human chromosome 8 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 8.
Its subject is documented across 6 Wikipedia language editions.
Gene data
TMEM67- Name
- transmembrane protein 67
- Type
- protein-coding
- Position
- 93,754,840–93,819,234 (+)
- Aliases
- JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
- Ensembl
- ENSG00000164953
- RefSeq RNA
- NM_001142301.1, NM_153704.6, NR_024522.2, XM_006716686.5, XM_011517363.4
- RefSeq protein
- NP_001135773.1, NP_714915.3, XP_006716749.1, XP_011515665.1, XP_047278365.1
The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
transmembrane protein 67
- Symbol
- TMEM67
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 8:93,754,840-93,819,234
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 71886
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/91147
- genetic association
- COACH Syndrome
- genomic end
- 94831462
- genomic start
- 94767072
- chromosome
- human chromosome 8
- cytogenetic location
- 8q22.1
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- See also
- References
- Further reading
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
== Function ==
Excerpted from Wikipedia’s “TMEM67” article, available under the CC BY-SA 4.0 licence.