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    TMIGD2 transmembrane and immunoglobulin domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 126259, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMIGD2provided by HGNC
    Official Full Name
    transmembrane and immunoglobulin domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:28324
    See related
    Ensembl:ENSG00000167664 MIM:614715; AllianceGenome:HGNC:28324
    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
    CD28H; IGPR1; IGPR-1
    Summary
    Enables coreceptor activity. Involved in positive regulation of T cell activation; positive regulation of angiogenesis; and positive regulation of cytokine production. Predicted to be located in plasma membrane. Predicted to be part of B cell receptor complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lymph node (RPKM 1.8), spleen (RPKM 1.5) and 14 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TMIGD2 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (4292227..4302389, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (4275498..4285669, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4292224..4302386, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13766 Neighboring gene YJU2 splicing factor homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9883 Neighboring gene Src homology 2 domain containing transforming protein D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4301847-4302392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9884 Neighboring gene fibronectin type III and SPRY domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:4326526-4327507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9885 Neighboring gene signal transducing adaptor family member 2

    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. TMIGD2 as a potential therapeutic target in glioma patients. Boulhen C, et al. Front Immunol, 2023. PMID 37261362, Free PMC Article
    2. Identification of IGPR-1 as a novel adhesion molecule involved in angiogenesis. Rahimi N, et al. Mol Biol Cell, 2012 May. PMID 22419821, Free PMC Article
    3. Cell adhesion molecule IGPR-1 activates AMPK connecting cell adhesion to autophagy. Amraei R, et al. J Biol Chem, 2020 Dec 4. PMID 32978258, Free PMC Article
    4. The cell adhesion molecule IGPR-1 is activated by and regulates responses of endothelial cells to shear stress. Ho RX, et al. J Biol Chem, 2019 Sep 13. PMID 31341021, Free PMC Article
    5. IGPR-1 Is Required for Endothelial Cell-Cell Adhesion and Barrier Function. Wang YHW, et al. J Mol Biol, 2016 Dec 4. PMID 27838321, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TMIGD2 as a potential therapeutic target in glioma patients.
      Title: TMIGD2 as a potential therapeutic target in glioma patients.
    2. KIR3DL3-HHLA2 and TMIGD2-HHLA2 pathways: The dual role of HHLA2 in immune responses and its potential therapeutic approach for cancer immunotherapy.
      Title: KIR3DL3-HHLA2 and TMIGD2-HHLA2 pathways: The dual role of HHLA2 in immune responses and its potential therapeutic approach for cancer immunotherapy.
    3. HHLA2 Activates the JAK/STAT Signaling Pathway by Binding to TMIGD2 in Hepatocellular Carcinoma Cells.
      Title: HHLA2 Activates the JAK/STAT Signaling Pathway by Binding to TMIGD2 in Hepatocellular Carcinoma Cells.
    4. NEDD4 regulates ubiquitination and stability of the cell adhesion molecule IGPR-1 via lysosomal pathway.
      Title: NEDD4 regulates ubiquitination and stability of the cell adhesion molecule IGPR-1 via lysosomal pathway.
    5. Overexpression of B7H5/CD28H is associated with worse survival in human gastric cancer.
      Title: Overexpression of B7H5/CD28H is associated with worse survival in human gastric cancer.
    6. Cell adhesion molecule IGPR-1 activates AMPK connecting cell adhesion to autophagy.
      Title: Cell adhesion molecule IGPR-1 activates AMPK connecting cell adhesion to autophagy.
    7. VISTA protein (B7-H5) is a ligand for transmembrane and immunoglobulin domain containing 2 protein (CD28H) and is widely expressed in tumor cells. B7-H5 expression is closely related to the prognosis of the tumor [Review].
      Title: Phenotypical and potential functional characteristics of different immune cells expressing CD28H/B7-H5 and their relationship with cancer prognosis.
    8. Findings indicate that IGPR-1 is an important player in endothelial cell mechanosensing, insights that have important implications for the pathogenesis of common maladies, including ischemic heart diseases and inflammation.
      Title: The cell adhesion molecule IGPR-1 is activated by and regulates responses of endothelial cells to shear stress.
    9. High TMIGD2 expression levels in oral squamous cell carcinoma cells indicate poor prognosis. TMIGD2 expression inversely correlated with the TIM3, LAG3, and B7H3 levels.
      Title: The Expression Patterns and Associated Clinical Parameters of Human Endogenous Retrovirus-H Long Terminal Repeat-Associating Protein 2 and Transmembrane and Immunoglobulin Domain Containing 2 in Oral Squamous Cell Carcinoma.
    10. B7-H5/CD28H is a co-stimulatory signal pathway, and expression of B7-H5 is associated with improved disease prognosis in patients with pancreatic cancer.
      Title: B7-H5/CD28H is a co-stimulatory pathway and correlates with improved prognosis in pancreatic ductal adenocarcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC23244

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables coreceptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T cell costimulation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of activated T cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane and immunoglobulin domain-containing protein 2
    Names
    CD28 homolog
    CD28 homologue
    immunoglobulin and proline-rich receptor 1
    immunoglobulin-containing and proline-rich receptor 1

    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_001169126.2 → NP_001162597.1  transmembrane and immunoglobulin domain-containing protein 2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001162597.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AY358964, BU629751
      Consensus CDS
      CCDS59334.1
      UniProtKB/Swiss-Prot
      Q96BF3
      Related
      ENSP00000470561.1, ENST00000595645.6
      Conserved Domains (2) summary
      smart00410
      Location:29 → 114
      IG_like; Immunoglobulin like
      cl11960
      Location:27 → 133
      Ig; Immunoglobulin domain

    2. NM_001308232.2 → NP_001295161.1  transmembrane and immunoglobulin domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001295161.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
      Source sequence(s)
      AY358964, BC015655, HQ452865, HY260382
      Consensus CDS
      CCDS77217.1
      UniProtKB/TrEMBL
      A0A0B4J2A9
      Related
      ENSP00000470494.1, ENST00000600114.5

    3. NM_001395549.1 → NP_001382478.1  transmembrane and immunoglobulin domain-containing protein 2 isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AC008616
      Conserved Domains (1) summary
      cl11960
      Location:36 → 112
      Ig; Immunoglobulin domain

    4. NM_144615.3 → NP_653216.2  transmembrane and immunoglobulin domain-containing protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_653216.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC008616, BC015655, BU629751
      Consensus CDS
      CCDS12126.1
      UniProtKB/Swiss-Prot
      Q6UW59, Q96BF3
      Related
      ENSP00000301272.1, ENST00000301272.6
      Conserved Domains (2) summary
      smart00410
      Location:29 → 114
      IG_like; Immunoglobulin like
      cl11960
      Location:27 → 133
      Ig; Immunoglobulin domain

    RNA

    1. NR_172630.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008616

    2. NR_172631.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008616

    3. NR_172632.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008616

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      4292227..4302389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438167.1 → XP_047294123.1  transmembrane and immunoglobulin domain-containing protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      4275498..4285669 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319793.1 → XP_054175768.1  transmembrane and immunoglobulin domain-containing protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BF3.2 GenPept UniProtKB/Swiss-Prot:Q96BF3

    Gene LinkOut

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

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