Tmem67 - transmembrane protein 67 Gene

Also Known as B230117O07; b2b1163.1Clo; b2b1291.1Clo; 5330408M12Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 329795

Summary

Predicted to enable filamin binding activity; misfolded protein binding activity; and unfolded protein binding activity. Involved in branching morphogenesis of an epithelial tube; cilium assembly; and negative regulation of centrosome duplication. Acts upstream of or within determination of left/right symmetry; heart development; and kidney development. Located in cytoplasmic vesicle membrane and endoplasmic reticulum membrane. Part of MKS complex. Is expressed in diencephalon; hindbrain lateral wall; metanephros; and organ of Corti. Used to study Joubert syndrome 6; Meckel syndrome; cystic kidney disease; and visceral heterotaxy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis 11. Orthologous to human TMEM67 (transmembrane protein 67). [provided by Alliance of Genome Resources, Apr 2022]

Tmem67 Products (1)

mRNA Protein Name
NM_177861.5 NP_808529.3 meckelin precursor

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in branching morphogenesis of an epithelial tube IMP
IMP: Inferred from mutant phenotype
17185389 MGI
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
17185389 MGI
acts upstream of or within determination of left/right symmetry IMP
IMP: Inferred from mutant phenotype
25807483 MGI
involved in epithelial tube branching involved in lung morphogenesis IMP
IMP: Inferred from mutant phenotype
26035863 MGI
acts upstream of or within heart development IMP
IMP: Inferred from mutant phenotype
25807483 MGI
acts upstream of or within kidney development IMP
IMP: Inferred from mutant phenotype
27002738 MGI
involved in negative regulation of centrosome duplication IMP
IMP: Inferred from mutant phenotype
19515853 MGI
involved in non-canonical Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
26035863 MGI
Cellular Component GO Annotation Evidence References Source
part of MKS complex IDA
IDA: Inferred from direct assay
21725307 MGI
located in cytoplasmic vesicle membrane IDA
IDA: Inferred from direct assay
19815549 MGI
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
19815549 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

meckelin

  • meckel syndrome type 3 protein homolog

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14737 TMEM67 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Tmem67 NCBI NCBI:91147