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

Gene ID: 116211, updated on 14-Nov-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 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.

Chemical Information
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