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Tmem231 transmembrane protein 231 [ Mus musculus (house mouse) ]

Gene ID: 234740, updated on 2-Nov-2024

Summary

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Official Symbol
Tmem231provided by MGI
Official Full Name
transmembrane protein 231provided by MGI
Primary source
MGI:MGI:2685024
See related
Ensembl:ENSMUSG00000031951 AllianceGenome:MGI:2685024
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gm178; 4932417I16Rik
Summary
Involved in cilium assembly and smoothened signaling pathway. Acts upstream of or within several processes, including embryonic digit morphogenesis; in utero embryonic development; and neuroepithelial cell differentiation. Located in ciliary membrane and ciliary transition zone. Part of MKS complex. Is expressed in embryo. Human ortholog(s) of this gene implicated in Joubert syndrome 20 and Meckel syndrome. Orthologous to human TMEM231 (transmembrane protein 231). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis adult (RPKM 7.4), ovary adult (RPKM 5.8) and 27 other tissues See more
Orthologs
human all
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Genomic context

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See Tmem231 in Genome Data Viewer
Location:
8 E1; 8 58.15 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (112638639..112660445, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (111912007..111933813, complement)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 170 Neighboring gene STARR-positive B cell enhancer ABC_E5043 Neighboring gene STARR-seq mESC enhancer starr_22724 Neighboring gene STARR-seq mESC enhancer starr_22725 Neighboring gene carbohydrate sulfotransferase 5 Neighboring gene predicted gene, 36531 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:114464460-114464569 Neighboring gene STARR-seq mESC enhancer starr_22729 Neighboring gene GABA type A receptor associated protein like 2 Neighboring gene adenosine deaminase, tRNA-specific 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:114500469-114500652 Neighboring gene STARR-positive B cell enhancer ABC_E6687

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. Roberson EC, et al. J Cell Biol, 2015 Apr 13. PMID 25869670, Free PMC Article
  2. Ciliary Hedgehog signaling regulates cell survival to build the facial midline. Abrams SR, et al. Elife, 2021 Oct 21. PMID 34672258, Free PMC Article
  3. A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Chih B, et al. Nat Cell Biol, 2011 Dec 18. PMID 22179047
  4. Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors. Kim H, et al. Cell, 2018 Dec 13. PMID 30550785, Free PMC Article
  5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within camera-type eye development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic digit morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neuroepithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of protein localization IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within vasculature development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of MKS complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in ciliary membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary transition zone IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
transmembrane protein 231

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001033321.2 → NP_001028493.1  transmembrane protein 231 isoform 1

    See identical proteins and their annotated locations for NP_001028493.1

    Status: VALIDATED

    Source sequence(s)
    AU254458, BC100402, BY031259
    Consensus CDS
    CCDS52676.1
    UniProtKB/Swiss-Prot
    Q3U284, Q497S7
    Related
    ENSMUSP00000034429.8, ENSMUST00000034429.9
    Conserved Domains (1) summary
    pfam10149
    Location:1 → 301
    TM231; Transmembrane protein 231

  2. NM_001357348.1 → NP_001344277.1  transmembrane protein 231 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK030046, AU254458, BY031259
    Conserved Domains (1) summary
    pfam10149
    Location:19 → 217
    TM231; Transmembrane protein 231

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    112638639..112660445 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011248362.3 → XP_011246664.1  transmembrane protein 231 isoform X1

    See identical proteins and their annotated locations for XP_011246664.1

    Conserved Domains (1) summary
    pfam10149
    Location:19 → 217
    TM231; Transmembrane protein 231

  2. XM_011248363.4 → XP_011246665.1  transmembrane protein 231 isoform X2

    Conserved Domains (1) summary
    pfam10149
    Location:2 → 199
    TM231; Transmembrane protein 231
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3U284.1 GenPept UniProtKB/Swiss-Prot:Q3U284

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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