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MIRAGE
transmembrane protein 67

Summary
Gene Symbol
  • TMEM67
Organism
Homo sapiens (human)
NCBI Gene
91147
KEGG Gene ID
PubChem
91147
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Bardet-Biedl syndrome
  • Cell membrane
  • Cilium
  • Cilium biogenesis/degradation
  • Coiled coil
  • Cytoskeleton
  • Deafness
  • Disease variant
  • Disulfide bond
  • Endoplasmic reticulum
  • Glycoprotein
  • Intellectual disability
  • Joubert syndrome
  • Meckel syndrome
  • Nephronophthisis
  • Obesity
  • Proteomics identification
  • Reference proteome
  • Retinitis pigmentosa
  • Signal
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
C9JHI2
Q5HYA8
  • Meckel syndrome type 3 protein
  • Transmembrane protein 67
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 1 - 5 of 8 in total
GO Term Evidence Code PMID
negative regulation of centrosome duplication
non-canonical Wnt signaling pathway
ERAD pathway
cilium assembly
cilium assembly
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
Disease
Disease Ontology
Displaying all 9 entries
DO ID Disease Name Source
DOID:0110136 Bardet-Biedl syndrome 14
DOID:10762 portal hypertension
DOID:0111001 Joubert syndrome 6
DOID:12270 coloboma
DOID:0111118 nephronophthisis 11
DOID:1935 Bardet-Biedl syndrome
DOID:0070117 Meckel syndrome 3
DOID:0111589 COACH syndrome
DOID:12712 nephronophthisis
Ortholog
Displaying 1 entry
Species Gene ID Alliance of Genome Resources
329795 MGI:1923928
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026