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 part of MKS complex. Predicted to be active in ciliary transition zone. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 16 figures from 7 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

Human Disease	Fish	Conditions	Citations
meningocele	WT + MO1-tmem67	standard conditions	Adams et al., 2012
ciliopathy	WT + MO2-tmem67	standard conditions	Leightner et al., 2013
ciliopathy	WT + MO1-tmem67	standard conditions	Adams et al., 2012
ciliopathy	WT + MO3-tmem67	standard conditions	Leightner et al., 2013

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR019170	Meckelin
Homologous_superfamily	IPR009030	Growth factor receptor cysteine-rich domain superfamily

Domain Details Per Protein

Protein	Length	Growth factor receptor cysteine-rich domain superfamily	Meckelin
UniProtKB:A0A8M3AJ63 InterPro	1009
UniProtKB:E9QB24 InterPro	982
UniProtKB:A0A8M3ATH3 InterPro	624

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	tmem67-201 (1) Ensembl	Ensembl		3,193 nt	Select Tool ZFIN BLAST
ncRNA	tmem67-002 (1) Ensembl	Ensembl		614 nt	Select Tool ZFIN BLAST

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