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    TMEM237 transmembrane protein 237 [ Homo sapiens (human) ]

    Gene ID: 65062, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMEM237provided by HGNC
    Official Full Name
    transmembrane protein 237provided by HGNC
    Primary source
    HGNC:HGNC:14432
    See related
    Ensembl:ENSG00000155755 MIM:614423; AllianceGenome:HGNC:14432
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JBTS14; ALS2CR4
    Summary
    The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
    Expression
    Ubiquitous expression in skin (RPKM 10.1), adrenal (RPKM 5.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM237 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201620186..201643503, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (202100839..202124155, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202484909..202508226, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene C2 calcium dependent domain containing 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12233 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:202427174-202427863 Neighboring gene MT-ND4L pseudogene 16 Neighboring gene MT-ND4 pseudogene 29 Neighboring gene MT-ND5 pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12235 Neighboring gene enolase 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 651, pseudogene Neighboring gene MAGUK p55 scaffold protein 4 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202563997-202564498 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202564499-202564998 Neighboring gene alsin Rho guanine nucleotide exchange factor ALS2 Neighboring gene ribosomal protein S2 pseudogene 16

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of transmembrane protein 237 as a novel interactor with the intestinal riboflavin transporter-3 (RFVT-3): role in functionality and cell biology. Sabui S, et al. Am J Physiol Cell Physiol, 2019 Jun 1. PMID 30892938, Free PMC Article
    2. TMEM67, TMEM237, and Embigin in Complex With Monocarboxylate Transporter MCT1 Are Unique Components of the Photoreceptor Outer Segment Plasma Membrane. Skiba NP, et al. Mol Cell Proteomics, 2021. PMID 33933680, Free PMC Article
    3. Deciphering the structure and function of Als2cr4 in the mouse retina. Zuniga FI, et al. Invest Ophthalmol Vis Sci, 2010 Sep. PMID 20375344, Free PMC Article
    4. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Hadano S, et al. Nat Genet, 2001 Oct. PMID 11586298
    5. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Huang L, et al. Am J Hum Genet, 2011 Dec 9. PMID 22152675, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM237 in HuTu-80 cells led to a significant induction in riboflavin uptake. Transfecting TMEM237 into HuTu-80 cells led to a marked enhancement in hRFVT-3 protein stability (reflected by an increase in protein half-life).
      Title: Identification of transmembrane protein 237 as a novel interactor with the intestinal riboflavin transporter-3 (RFVT-3): role in functionality and cell biology.
    2. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
      Title: TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Familial aplasia of the vermis
    MedGen: C0431399 GeneReviews: Joubert Syndrome
    		Compare labs
    Joubert syndrome 14
    MedGen: C3280766 OMIM: 614424 GeneReviews: Joubert Syndrome
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of TMEM237 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33282, DKFZp313L091

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 cone photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in rod photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 237
    Names
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein

    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.

    Genomic

    1. NG_032049.1 RefSeqGene

      Range
      5027..28344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001044385.3 → NP_001037850.1  transmembrane protein 237 isoform a

      See identical proteins and their annotated locations for NP_001037850.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AB053301, AC007282, BP226834
      Consensus CDS
      CCDS46489.1
      UniProtKB/Swiss-Prot
      B4E1R8, B4E2R8, E9PAR8, E9PBF8, E9PG24, E9PGX0, Q53TS9, Q53TT2, Q7Z3B6, Q8IZ18, Q8NBF8, Q96CY1, Q96Q45
      UniProtKB/TrEMBL
      A0A087WWU1
      Related
      ENSP00000386264.2, ENST00000409883.7
      Conserved Domains (1) summary
      pfam15383
      Location:140 → 384
      TMEM237; Transmembrane protein 237

    2. NM_152388.4 → NP_689601.2  transmembrane protein 237 isoform b

      See identical proteins and their annotated locations for NP_689601.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AB053301, AC007279, AC007282
      Consensus CDS
      CCDS46490.1
      UniProtKB/TrEMBL
      A0A087WWU1
      Related
      ENSP00000387203.2, ENST00000409444.6
      Conserved Domains (1) summary
      pfam15383
      Location:132 → 376
      TMEM237; Transmembrane protein 237

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      201620186..201643503 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      202100839..202124155 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96Q45.2 GenPept UniProtKB/Swiss-Prot:Q96Q45

    Gene LinkOut

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

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