The TMEM67 gene homepage

General information
Gene symbol TMEM67
Gene name transmembrane protein 67
Chromosome 8
Chromosomal band q22.1
Imprinted Unknown
Genomic reference NG_009190.1
Transcript reference NM_153704.5
Exon/intron information NM_153704.5 exon/intron table
Associated with diseases BBS-1, COACH, ID, JBTS-1, JBTS-6, MKS-3, NPHP-11, RHYNS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 186
Unique public DNA variants reported 123
Individuals with public variants 258
Hidden variants 15
Download all this gene's data Download all data
Notes alias MKS3, JBTS6, Meckelin, MGC26979, NPHP11
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created April 05, 2011
Date last updated November 10, 2020
Version TMEM67:201110

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_153704.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
Finnish Disease Database (FinDis)
HGNC 28396
Entrez Gene 91147
PubMed articles TMEM67
OMIM - Gene 609884
OMIM - Diseases BBS-1 (Bardet-Biedl syndrome, type 1 (BBS-1))
COACH (COACH syndrome)
JBTS-1 (Joubert syndrome, type 1 (JBTS-1))
JBTS-6 (Joubert syndrome, type 6 (JBTS-6))
MKS-3 (Meckel syndrome, type 3 (MKS-3))
NPHP-11 (nephronophthisis, type 11 (NPHP-11))
RHYNS (syndrome, retinitis pigmentosa, hypopituitarism, nephronophthisis and skeletal dysplasia (RHYNS))
GeneCards TMEM67
GeneTests TMEM67
Orphanet TMEM67

Active transcripts




NCBI ID     

NCBI Protein ID     

00000140 8 transmembrane protein 67, transcript variant 1 NM_153704.5 NP_714915.3 186

Copyright & disclaimer
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