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    TMEM219 transmembrane protein 219 [ Homo sapiens (human) ]

    Gene ID: 124446, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM219provided by HGNC
    Official Full Name
    transmembrane protein 219provided by HGNC
    Primary source
    HGNC:HGNC:25201
    See related
    Ensembl:ENSG00000149932 MIM:620290; AllianceGenome:HGNC:25201
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IGFBP3R; IGFBP-3R
    Summary
    Predicted to be involved in apoptotic process. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 42.5), small intestine (RPKM 28.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Try the new Transcript table

    Genomic context

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    See TMEM219 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29962079..29973048)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30244712..30255683)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29973400..29984369)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29912830-29913534 Neighboring gene aspartate beta-hydroxylase domain containing 1 Neighboring gene potassium channel tetramerization domain containing 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7344 Neighboring gene KCTD13 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7345 Neighboring gene uncharacterized LOC124903762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29985672-29986443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29987081-29987582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29987583-29988082 Neighboring gene TAO kinase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30002153-30002740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30004428-30004928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30004929-30005429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10686 Neighboring gene HIRA interacting protein 3

    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. TMEM219 regulates the transcription factor expression and proliferation of beta cells. D'Addio F, et al. Front Endocrinol (Lausanne), 2024. PMID 38318298, Free PMC Article
    2. Insulin-like growth factor binding protein-3 (IGFBP-3): Novel ligands mediate unexpected functions. Baxter RC. J Cell Commun Signal, 2013 Aug. PMID 23700234, Free PMC Article
    3. Identification of a novel cell death receptor mediating IGFBP-3-induced anti-tumor effects in breast and prostate cancer. Ingermann AR, et al. J Biol Chem, 2010 Sep 24. PMID 20353938, Free PMC Article
    4. The IGFBP3/TMEM219 pathway regulates beta cell homeostasis. D'Addio F, et al. Nat Commun, 2022 Feb 3. PMID 35115561, Free PMC Article
    5. IL-13Rα2 uses TMEM219 in chitinase 3-like-1-induced signalling and effector responses. Lee CM, et al. Nat Commun, 2016 Sep 15. PMID 27629921, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMEM219 regulates the transcription factor expression and proliferation of beta cells.
      Title: TMEM219 regulates the transcription factor expression and proliferation of beta cells.
    2. The IGFBP3/TMEM219 pathway regulates beta cell homeostasis.
      Title: The IGFBP3/TMEM219 pathway regulates beta cell homeostasis.
    3. critical role in Chi3l1-induced IL-13Ralpha2 mediated signalling and tissue responses
      Title: IL-13Rα2 uses TMEM219 in chitinase 3-like-1-induced signalling and effector responses.
    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    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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    Homology

    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 apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    insulin-like growth factor-binding protein 3 receptor
    Names
    testicular tissue protein Li 203

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001083613.2 → NP_001077082.1  insulin-like growth factor-binding protein 3 receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_001077082.1

      Status: VALIDATED

      Source sequence(s)
      BC050051, DB506492
      Consensus CDS
      CCDS42145.1
      UniProtKB/Swiss-Prot
      D5FK14, Q86XT9, Q8WVV8
      UniProtKB/TrEMBL
      A0A024R618, I3L2J7
      Related
      ENSP00000279396.6, ENST00000279396.11
      Conserved Domains (1) summary
      pfam14940
      Location:48 → 169
      TMEM219; Transmembrane 219

    2. NM_001369688.1 → NP_001356617.1  insulin-like growth factor-binding protein 3 receptor isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC093512, AC120114
      Consensus CDS
      CCDS42145.1
      UniProtKB/Swiss-Prot
      D5FK14, Q86XT9, Q8WVV8
      UniProtKB/TrEMBL
      A0A024R618, I3L2J7
      Related
      ENSP00000457492.1, ENST00000566848.5
      Conserved Domains (1) summary
      pfam14940
      Location:48 → 169
      TMEM219; Transmembrane 219

    3. NM_001369689.1 → NP_001356618.1  insulin-like growth factor-binding protein 3 receptor isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC093512, AC120114
      UniProtKB/TrEMBL
      I3L2J7
      Related
      ENSP00000459732.2, ENST00000575829.6
      Conserved Domains (1) summary
      pfam14940
      Location:48 → 169
      TMEM219; Transmembrane 219

    4. NM_001369690.1 → NP_001356619.1  insulin-like growth factor-binding protein 3 receptor isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC093512, AC120114
      UniProtKB/TrEMBL
      I3L2J7
      Conserved Domains (1) summary
      pfam14940
      Location:48 → 169
      TMEM219; Transmembrane 219

    5. NM_194280.4 → NP_919256.1  insulin-like growth factor-binding protein 3 receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_919256.1

      Status: VALIDATED

      Source sequence(s)
      AC093512, AC120114
      Consensus CDS
      CCDS42145.1
      UniProtKB/Swiss-Prot
      D5FK14, Q86XT9, Q8WVV8
      UniProtKB/TrEMBL
      A0A024R618, I3L2J7
      Related
      ENSP00000388485.2, ENST00000414689.6
      Conserved Domains (1) summary
      pfam14940
      Location:48 → 169
      TMEM219; Transmembrane 219

    RNA

    1. NR_161465.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC093512, AC120114

    2. NR_161466.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC093512, AC120114

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      29962079..29973048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433622.1 → XP_047289578.1  insulin-like growth factor-binding protein 3 receptor isoform X1

      UniProtKB/Swiss-Prot
      D5FK14, Q86XT9, Q8WVV8
      UniProtKB/TrEMBL
      A0A024R618, I3L2J7

    2. XM_005255123.2 → XP_005255180.1  insulin-like growth factor-binding protein 3 receptor isoform X1

      See identical proteins and their annotated locations for XP_005255180.1

      UniProtKB/Swiss-Prot
      D5FK14, Q86XT9, Q8WVV8
      UniProtKB/TrEMBL
      A0A024R618, I3L2J7
      Conserved Domains (1) summary
      pfam14940
      Location:48 → 169
      TMEM219; Transmembrane 219

    RNA

    1. XR_007064854.1 RNA Sequence

    2. XR_007064853.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      30244712..30255683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379610.1 → XP_054235585.1  insulin-like growth factor-binding protein 3 receptor isoform X1

      UniProtKB/Swiss-Prot
      D5FK14, Q86XT9, Q8WVV8
      UniProtKB/TrEMBL
      A0A024R618, I3L2J7

    2. XM_054379611.1 → XP_054235586.1  insulin-like growth factor-binding protein 3 receptor isoform X1

      UniProtKB/Swiss-Prot
      D5FK14, Q86XT9, Q8WVV8
      UniProtKB/TrEMBL
      A0A024R618, I3L2J7

    RNA

    1. XR_008489054.1 RNA Sequence

    2. XR_008489055.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XT9.1 GenPept UniProtKB/Swiss-Prot:Q86XT9

    Gene LinkOut

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