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 zebrafish

Gene Tree: Tmem67

Human homologs

Human Homolog		TMEM67, transmembrane protein 67
NCBI Gene ID		91147
neXtProt AC		NX_Q5HYA8
Human Synonyms		JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
Human Chr (Location)		8q22.1; chr8:94767072-94831462 (+)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human TMEM67

Alleles and phenotypes

All alleles(6) : Targeted(1) Gene trapped(3) Chemically induced(2)
 

Mice homozygous for a targeted allele exhibit neonatal and postanal lethality, kidney cysts, and postnatal growth retardation in surviving mice. Mice homozygous for an ENU-induced allele exhibit cardiovascular defects and cystic kidney due to heterotaxy syndrome.

 
Human Diseases Modeled Using Mouse Tmem67 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(11)

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)   
Theiler Stages: 21, 26

Assay Type	Results
Immunohistochemistry	4
RT-PCR	2

cDNA source data(23)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1585220, TC1590372, TC1596212, TC1599255, TC1627524
Consensus CDS Project	CCDS17974.1
International Mouse Knockout Project Status	Tmem67

Sequences

Length	Strain/Species
genomic	OTTMUSG00000004570	VEGA Gene Model | MGI Sequence Detail	50658	C57BL/6J
transcript	OTTMUST00000010338	VEGA | MGI Sequence Detail	3945	Not Applicable
polypeptide	OTTMUSP00000004903	VEGA | MGI Sequence Detail	1061	Not Applicable

All sequences(40) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(161 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR009030	Growth factor, receptor
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(32)

Other accession IDs

MGI:5433395, MGI:5437075