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Tmem67 Gene Detail
Summary
  • Symbol
    Tmem67
  • Name
    transmembrane protein 67
  • Synonyms
    5330408M12Rik, b2b1163.1Clo, b2b1291.1Clo
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923928
    NCBI Gene: 329795
Location & Maps
more
  • Sequence Map
    Chr4:12039363-12090020 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      50658 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    TMEM67, transmembrane protein 67
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TMEM67, transmembrane protein 67
    Orthology source: HGNC, HomoloGene
  • Synonyms
    JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
  • Links
    NCBI Gene ID: 91147
    neXtProt AC: NX_Q5HYA8

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

Human Diseases
more
  • Diseases
    3 with Tmem67 mouse models; 6 with human TMEM67 associations

Human Disease Mouse Models
       Joubert Syndrome 6; JBTS6   OMIM: 610688 View 1 model
Meckel Syndrome, Type 3; MKS3   OMIM: 607361 View 1 model
       Polycystic Kidney Disease 1; PKD1   OMIM: 173900 View 2 models
       Bardet-Biedl Syndrome 14; BBS14   OMIM: 615991
Bardet-Biedl Syndrome 1; BBS1   OMIM: 209900
COACH Syndrome   OMIM: 216360
Nephronophthisis 11; NPHP11   OMIM: 613550
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    48 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    11 images
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Chemically induced (ENU)
    2
  • Gene trapped
    3
  • Spontaneous
    1
  • Targeted
    1
  • Transgenic
    5
  • Genomic Mutations
    1 involving Tmem67
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    256 from dbSNP Build 137
Protein
Information
less
  • UniProt
    5 Sequences
  • InterPro Domains
    IPR009030 Growth factor receptor cysteine-rich domain
    IPR019170 Meckelin
Molecular
Reagents
less
  • All nucleic 24
    cDNA 23
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
less
MGI:5433395, MGI:5437075
References
more
  • Summaries
    All 31
    Developmental Gene Expression 3
    Diseases 5
    Gene Ontology 8
    Phenotypes 10
  • 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:223384 Abdelhamed ZA, et al., The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Dis Model Mech. 2015 Jun;8(6):527-41

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
01/26/2016
MGI 6.02
The Jackson Laboratory