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    TM4SF19 transmembrane 4 L six family member 19 [ Homo sapiens (human) ]

    Gene ID: 116211, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TM4SF19provided by HGNC
    Official Full Name
    transmembrane 4 L six family member 19provided by HGNC
    Primary source
    HGNC:HGNC:25167
    See related
    Ensembl:ENSG00000145107 MIM:620845; AllianceGenome:HGNC:25167
    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
    OCTM4
    Summary
    The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]
    Expression
    Biased expression in testis (RPKM 3.1), esophagus (RPKM 0.9) and 10 other tissues See more
    Orthologs
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    Genomic context

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    See TM4SF19 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (196323547..196338388, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (199043086..199057713, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196050418..196065259, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:195973646-195974845 Neighboring gene phosphate cytidylyltransferase 1A, choline Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195990064-195990615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:195990616-195991166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:195999955-196000454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196005871-196006483 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196013420-196014080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196014081-196014740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21086 Neighboring gene dynein light chain Tctex-type 2B Neighboring gene TM4SF19-DYNLT2B readthrough (NMD candidate) Neighboring gene uncharacterized LOC107986031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21087 Neighboring gene TM4SF19 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:196064783-196065982 Neighboring gene RNA, U6 small nuclear 910, pseudogene Neighboring gene UBX domain protein 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:196107701-196108278 Neighboring gene RNA, U6 small nuclear 1279, pseudogene

    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
    • 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. TM4SF19 controls GABP-dependent YAP transcription in head and neck cancer under oxidative stress conditions. Shin E, et al. Proc Natl Acad Sci U S A, 2024 Feb 13. PMID 38315837, Free PMC Article
    2. TM4SF19 aggravates LPS-induced attenuation of vascular endothelial cell adherens junctions by suppressing VE-cadherin expression. Ding L, et al. Biochem Biophys Res Commun, 2020 Dec 17. PMID 33059922
    3. TM4SF19-AS1 facilitates the proliferation of lung squamous cell carcinoma by recruiting WDR5 to mediate TM4SF19. Luo M, et al. Mol Cell Probes, 2022 Oct. PMID 35987447
    4. Tm4sf19 deficiency inhibits osteoclast multinucleation and prevents bone loss. Park S, et al. Metabolism, 2024 Feb. PMID 38016540
    5. Phospho-tyrosine dependent protein-protein interaction network. Grossmann A, et al. Mol Syst Biol, 2015 Mar 26. PMID 25814554, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TM4SF19 controls GABP-dependent YAP transcription in head and neck cancer under oxidative stress conditions.
      Title: TM4SF19 controls GABP-dependent YAP transcription in head and neck cancer under oxidative stress conditions.
    2. TM4SF19-AS1 facilitates the proliferation of lung squamous cell carcinoma by recruiting WDR5 to mediate TM4SF19.
      Title: TM4SF19-AS1 facilitates the proliferation of lung squamous cell carcinoma by recruiting WDR5 to mediate TM4SF19.
    3. TM4SF19 aggravates LPS-induced attenuation of vascular endothelial cell adherens junctions by suppressing VE-cadherin expression.
      Title: TM4SF19 aggravates LPS-induced attenuation of vascular endothelial cell adherens junctions by suppressing VE-cadherin expression.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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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    Readthrough TM4SF19-DYNLT2B

    Readthrough gene: TM4SF19-DYNLT2B, Included gene: DYNLT2B

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of osteoclast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in actin cytoskeleton ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane 4 L6 family member 19
    Names
    osteoclast maturation-associated gene 4 protein
    tetraspan membrane protein OCTM4

    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_054731.1 RefSeqGene

      Range
      5033..19874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001204897.2 → NP_001191826.1  transmembrane 4 L6 family member 19 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      BC171824, BP396791, CA430273, CA489370
      Conserved Domains (1) summary
      pfam05805
      Location:11 → 149
      L6_membrane; L6 membrane protein

    2. NM_001204898.2 → NP_001191827.1  transmembrane 4 L6 family member 19 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AC069257, AF192910, BC171870, CA430273, CA489370
      Consensus CDS
      CCDS56299.1
      Related
      ENSP00000387728.1, ENST00000454715.5
      Conserved Domains (1) summary
      pfam05805
      Location:11 → 182
      L6_membrane; L6 membrane protein

    3. NM_138461.4 → NP_612470.2  transmembrane 4 L6 family member 19 isoform 1

      See identical proteins and their annotated locations for NP_612470.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
      Source sequence(s)
      AF192910, BC146985, CA430273, CA489370
      Consensus CDS
      CCDS3316.1
      UniProtKB/Swiss-Prot
      B2RV20, E9PH22, Q336K7, Q96DZ7
      Related
      ENSP00000273695.4, ENST00000273695.4
      Conserved Domains (1) summary
      pfam05805
      Location:11 → 208
      L6_membrane; L6 membrane protein

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      196323547..196338388 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      199043086..199057713 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DZ7.2 GenPept UniProtKB/Swiss-Prot:Q96DZ7

    Gene LinkOut

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

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