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Tmem231 Gene Detail
Summary
  • Symbol
    Tmem231
  • Name
    transmembrane protein 231
  • Synonyms
    4932417I16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685024
    NCBI Gene: 234740
Location & Maps
more
  • Sequence Map
    Chr8:111912018-111933791 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      21774 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    TMEM231, transmembrane protein 231
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TMEM231, transmembrane protein 231
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ALYE870, JBTS20, MKS11, PRO1886
  • Links
    NCBI Gene ID: 79583
    neXtProt AC: NX_Q9H6L2

  • Chr Location
    16q23.1; chr16:75538117-75556286 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human TMEM231 associations

Human Disease Mouse Models
       Joubert Syndrome 1; JBTS1   OMIM: 213300
Joubert Syndrome 20; JBTS20   OMIM: 614970
Meckel Syndrome, Type 11; MKS11   OMIM: 615397
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    5 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
    228
  • Gene trapped
    227
  • Targeted
    1
  • Incidental Mutations
    APF , CvDC
Mice homozygous for a gene trapped allele exhibit complete lethality throughout fetal growth and development, defective patterning of the ventral spinal cord, a striking loss in cilia, severe vascular defects, polydactyly, and microphthalmia.
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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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000031951 Ensembl Gene Model | MGI Sequence Detail 21774 C57BL/6J ±  kb
transcript ENSMUST00000034429 Ensembl | MGI Sequence Detail 2887 Not Applicable  
polypeptide ENSMUSP00000034429 Ensembl | MGI Sequence Detail 315 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    171 from dbSNP Build 137
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000031334 transmembrane protein 231
  • InterPro Domains
    IPR019306 Transmembrane protein 231
Molecular
Reagents
less
  • All nucleic 7
    cDNA 7

    Microarray probesets 3
References
more
  • Summaries
    All 22
    Developmental Gene Expression 1
    Gene Ontology 2
    Phenotypes 5
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:178978 Chih B, et al., A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat Cell Biol. 2011;14(1):61-72

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