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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
  • Gene Overview
    MyGene.info: TMEM67
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:12039355-12090020 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 5.56 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    233 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923928
protein coding gene Chr4:12039355-12090020 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028060
protein coding gene Chr4:8738874-8792302 (-)
A/J MGP_AJ_G0028017
protein coding gene Chr4:8594278-8645696 (-)
AKR/J MGP_AKRJ_G0027983
protein coding gene Chr4:8689416-8753586 (-)
BALB/cJ MGP_BALBcJ_G0028029
protein coding gene Chr4:8515832-8566168 (-)
C3H/HeJ MGP_C3HHeJ_G0027759
protein coding gene Chr4:8858110-8928473 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028473
protein coding gene Chr4:9147515-9200523 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025815
protein coding gene Chr4:8105584-8153314 (-)
CAST/EiJ MGP_CASTEiJ_G0027213
protein coding gene Chr4:8694909-8749343 (-)
CBA/J MGP_CBAJ_G0027734
protein coding gene Chr4:9411992-9465677 (-)
DBA/2J MGP_DBA2J_G0027875
protein coding gene Chr4:8453263-8501544 (-)
FVB/NJ MGP_FVBNJ_G0027841
protein coding gene Chr4:8275492-8325472 (-)
LP/J MGP_LPJ_G0027985
protein coding gene Chr4:8827837-8885163 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027874
protein coding gene Chr4:9588945-9644701 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028531
protein coding gene Chr4:8691745-8749016 (-)
PWK/PhJ MGP_PWKPhJ_G0026934
protein coding gene Chr4:8477215-8536088 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026764
protein coding gene Chr4:8606803-8677816 (-)
WSB/EiJ MGP_WSBEiJ_G0027292
protein coding gene Chr4:8755632-8875388 (-)



Homology
more
  • Human Ortholog
    TMEM67, transmembrane protein 67
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TMEM67, transmembrane protein 67
    Orthology source: HomoloGene, HGNC
  • Synonyms
    JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
  • Links
    NCBI Gene ID: 91147
    neXtProt AC: NX_Q5HYA8
    UniProt: Q5HYA8

  • Chr Location
    8q22.1; chr8:93754844-93832653 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 71886
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: TMEM67
  • Gene Tree
Human Diseases
more
  • Diseases
    4 with Tmem67 mouse models; 4 with human TMEM67 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 2 models
IDs
View 1 model
IDs
View 2 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

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

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

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 329795 NCBI Gene Model | MGI Sequence Detail 50666 C57BL/6J ±  kb
    transcript NR_110955 RefSeq | MGI Sequence Detail 3610 C57BL/6  
    polypeptide Q8BR76 UniProt | EBI | MGI Sequence Detail 992 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR019170 Meckelin
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 24
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:5433395, MGI:5437075
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 3
      Diseases 3
      Gene Ontology 8
      Phenotypes 11
    • 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:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory