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Gene: TMEM67 (transmembrane protein 67) Homo sapiens
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Symbol: TMEM67
Name: transmembrane protein 67
CRRD ID: 1606753
Description: Exhibits filamin binding activity and unfolded protein binding activity. Involved in cilium assembly; negative regulation of centrosome duplication; and ubiquitin-dependent ERAD pathway. Localizes to several cellular components, including centrosome; ciliary membrane; and ciliary transition zone. Implicated in Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis 11.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: JBTS6; meckel syndrome type 3 protein; Meckel syndrome, type 3; meckelin; MGC26979; MKS3; NPHP11; TNEM67
Orthologs:
Mus musculus (house mouse) : Tmem67 (transmembrane protein 67)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tmem67 (transmembrane protein 67)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tmem67 (transmembrane protein 67)
Pan paniscus (bonobo/pygmy chimpanzee) : TMEM67 (transmembrane protein 67)
Canis lupus familiaris (dog) : TMEM67 (transmembrane protein 67)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tmem67 (transmembrane protein 67)
Sus scrofa (pig) : TMEM67 (transmembrane protein 67)
Chlorocebus sabaeus (African green monkey) : TMEM67 (transmembrane protein 67)
Heterocephalus glaber (naked mole-rat) : Tmem67 (transmembrane protein 67)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl893,754,844 - 93,819,234 (+)EnsemblGRCh38hg38GRCh38
GRCh38893,754,844 - 93,832,653 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37894,767,072 - 94,831,462 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,836,321 - 94,898,323 (+)NCBINCBI36hg18NCBI36
Celera890,953,124 - 91,017,521 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef889,974,594 - 90,039,048 (+)NCBIHuRef
CHM1_1894,807,348 - 94,871,742 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on TMEM67
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1606753
Created: 2007-04-29
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.