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TMEM219 transmembrane protein 219 [ Homo sapiens (human) ]

Gene ID: 124446, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 42.5), small intestine (RPKM 28.6) and 25 other tissues See more
Orthologs
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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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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

  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

  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

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

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