Gene

tmem67

ID
ZDB-GENE-080716-1
Name
transmembrane protein 67
Symbol
tmem67 Nomenclature History
Previous Names
  • mks3 (1)
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Acts upstream of or within cilium assembly; cilium movement; and convergent extension. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be part of MKS complex. Used to study ciliopathy and meningocele. 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).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tmem67 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bardet-Biedl syndrome 14 Alliance {Bardet-Biedl syndrome 14, modifier of} 615991
COACH syndrome Alliance COACH syndrome 1 216360
Joubert syndrome 6 Alliance Joubert syndrome 6 610688
Meckel syndrome 3 Alliance Meckel syndrome 3 607361
nephronophthisis 11 Alliance Nephronophthisis 11 613550
?RHYNS syndrome 602152
Associated With tmem67 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR019170 Meckelin
Domain Details Per Protein
Protein Length Meckelin
UniProtKB:E9QB24 982
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations