TMEM67

TMEM67
Identifiers
Aliases	TMEM67, JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, transmembrane protein 67
External IDs	OMIM: 609884 MGI: 1923928 HomoloGene: 71886 GeneCards: TMEM67
Gene location (Human) Chr. Chromosome 8 (human) Band 8q22.1 Start 93,754,844 bp End 93,819,234 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 A1 Start 12,039,355 bp End 12,090,020 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube Achilles tendon bronchial epithelial cell left ventricle anterior pituitary sperm left lobe of thyroid gland right lobe of thyroid gland tibial nerve stromal cell of endometrium Top expressed in spermatocyte spermatid superior frontal gyrus seminiferous tubule neural tube proximal tubule esophagus yolk sac lens cerebellar cortex More reference expression data BioGPS n/a
Gene ontology Molecular function unfolded protein binding filamin binding protein binding Cellular component cytoplasm integral component of membrane centrosome cell projection MKS complex endoplasmic reticulum membrane membrane plasma membrane cilium endoplasmic reticulum ciliary membrane cytoskeleton cytoplasmic vesicle membrane ciliary transition zone Biological process negative regulation of centrosome duplication cell projection organization ubiquitin-dependent ERAD pathway cilium assembly ciliary basal body-plasma membrane docking Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 91147 329795 Ensembl ENSG00000164953 ENSMUSG00000049488 UniProt Q5HYA8 Q8BR76 RefSeq (mRNA) NM_001142301 NM_153704 NM_177861 RefSeq (protein) NP_001135773 NP_714915 NP_808529 Location (UCSC) Chr 8: 93.75 – 93.82 Mb Chr 4: 12.04 – 12.09 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Meckelin is a protein that in humans is encoded by the TMEM67 gene.

Function

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.

Clinical significance

Defects in this gene are a cause of Meckel syndrome type 3 (MKS3), nephronophthisis and Joubert syndrome type 6 (JBTS6).

See also

• Meckel syndrome