TMEM67

Meckelin is a protein that in humans is encoded by the TMEM67 gene.^[5][6][7]

TMEM67
Identifiers
Aliases	TMEM67, JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, transmembrane protein 67
External IDs	OMIM: 609884; MGI: 1923928; HomoloGene: 71886; GeneCards: TMEM67; OMA:TMEM67 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q22.1 Start 93,754,844 bp[1] End 93,819,234 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 A1 Start 12,039,355 bp[2] End 12,090,020 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell right uterine tube Achilles tendon bronchial epithelial cell olfactory zone of nasal mucosa ventricular zone left ventricle anterior pituitary gonad left testis Top expressed in spermatocyte spermatid tail of embryo genital tubercle neural layer of retina ventricular zone zygote right kidney primary visual cortex lumbar subsegment of spinal cord 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 [3] [4]
Wikidata
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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.^[7]

Clinical significance

Defects in this gene are a cause of Meckel syndrome type 3 (MKS3),^[6] nephronophthisis^[8][9] and Joubert syndrome type 6 (JBTS6).^[10]

See also

• Meckel syndrome