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Tmem67
Gene Detail
Symbol

Name
ID
Tmem67
transmembrane protein 67
MGI:1923928
Synonyms
5330408M12Rik, b2b1163.1Clo, b2b1291.1Clo
Feature Type
protein coding gene
Genetic Map
Chromosome 4
5.56 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr4:12039363-12090020 bp, - strand
From VEGA annotation of GRCm38

  50658 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:71886  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: TMEM67
Gene Tree: Tmem67

Human
homologs
TMEM67, transmembrane protein 67
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 91147
neXtProt AC: NX_Q5HYA8

Human Synonyms: JBTS6, MECKELIN, MKS3, NPHP11, TNEM67

Human Chr (Location): 8q22.1; chr8:93754844-93832649 (+)  GRCh38.p2

Disease Associations: (5) Diseases Associated with Human TMEM67

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Chemically induced (ENU)(2) Gene trapped(3) Spontaneous(1) Targeted(1) Transgenic(2)
Genomic Mutations involving Tmem67 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a targeted allele exhibit neonatal/postanal lethality, kidney cysts, and Meckel-Gruber or Joubert syndrome-like phenotypes depending on the filial generation of the backcross to C57BL/6J. Mice homozygous for an ENU-induced allele exhibit cardiovascular defects and cystic kidney.
 
Human Diseases Modeled in Mice Using Tmem67 (3)    Mutations Annotated to Human Diseases (4)    Phenotype Images(11)
Interactions
Tmem67 interacts with 337 markers (Mir1b, Mir7-1, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (28 annotations)
Process branching morphogenesis of an epithelial tube, cell projection organization, ...
Component cell projection, centrosome, ...
Function filamin binding, unfolded protein binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (6)    Tissues (3)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 4
RT-PCR 2
cDNA source data(23)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase tmem67    NEW 
Molecular
reagents
All nucleic(24) cDNA(23) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000004570 (Evidence)
Ensembl Gene Model ENSMUSG00000049488 (Evidence)
Entrez Gene 329795 (Evidence)
UniGene 475125
DFCI TC1590372, TC1596212, TC1585220, TC1627524, TC1599255
Consensus CDS Project CCDS17974.1
International Mouse Phenotyping Consortium Status Tmem67
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000004570 VEGA Gene Model | MGI Sequence Detail 50658 C57BL/6J ±  kb
transcript OTTMUST00000010338 VEGA | MGI Sequence Detail 3945 Not Applicable 
polypeptide OTTMUSP00000004903 VEGA | MGI Sequence Detail 1061 Not Applicable 

For the selected sequences
All sequences(47) RefSeq(9) UniProt(5)
Polymorphisms
SNPs within 2kb(242 from dbSNP Build 137)    SNPs within 2kb including multiple locations(286)
Protein-related
information
ResourceIDDescription
InterPro IPR009030 Insulin-like growth factor binding protein, N-terminal
InterPro IPR019170 Meckelin
Protein Ontology PR:000016436 meckelin
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:193837 Abdelhamed ZA, et al., Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects. Hum Mol Genet. 2013 Apr 1;22(7):1358-72
All references(31)
Disease annotation references (2)
Other
accession IDs
MGI:5433395, MGI:5437075

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory