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    TMIGD3 transmembrane and immunoglobulin domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 57413, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMIGD3provided by HGNC
    Official Full Name
    transmembrane and immunoglobulin domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:51375
    See related
    Ensembl:ENSG00000121933 AllianceGenome:HGNC:51375
    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
    AD026
    Summary
    This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]
    Expression
    Biased expression in testis (RPKM 14.5), adrenal (RPKM 4.5) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMIGD3 in Genome Data Viewer
    Location:
    1p13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (111483348..111563962, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (111498030..111578832, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (112025970..112106584, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1497 Neighboring gene ATP synthase peripheral stalk-membrane subunit b Neighboring gene chromosome 1 open reading frame 162 Neighboring gene RNA, U6 small nuclear 792, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1500 Neighboring gene adenosine A3 receptor Neighboring gene RAP1A, member of RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1506 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:112150779-112151472 Neighboring gene long intergenic non-protein coding RNA 1160 Neighboring gene uncharacterized LOC107985184 Neighboring gene Sharpr-MPRA regulatory region 155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1186

    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. Cardiac myocytes rendered ischemia resistant by expressing the human adenosine A1 or A3 receptor. Dougherty C, et al. FASEB J, 1998 Dec. PMID 9837869, Free PMC Article
    2. Induction of multiple effects on adenylyl cyclase regulation by chronic activation of the human A3 adenosine receptor. Palmer TM, et al. Mol Pharmacol, 1997 Oct. PMID 9380026
    3. Adenosine inhibits neutrophil degranulation in activated human whole blood: involvement of adenosine A2 and A3 receptors. Bouma MG, et al. J Immunol, 1997 Jun 1. PMID 9164961
    4. cDNA cloning and sequence analysis of the human A3 adenosine receptor. Sajjadi FG, et al. Biochim Biophys Acta, 1993 Oct 7. PMID 8399349
    5. Genome-wide RNAi screening identifies TMIGD3 isoform1 as a suppressor of NF-κB and osteosarcoma progression. Iyer SV, et al. Nat Commun, 2016 Nov 25. PMID 27886186, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    General gene information

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    Homology

    Clone Names

    • RP11-552M11.7

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables transmembrane signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of adenylate cyclase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in inflammatory response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of NF-kappaB transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of heart contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to wounding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane and immunoglobulin domain containing 3
    Names
    AD026 protein (AD026)
    transmembrane domain-containing protein TMIGD3

    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_001081976.3 → NP_001075445.1  transmembrane and immunoglobulin domain containing 3 isoform 3

      See identical proteins and their annotated locations for NP_001075445.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, resulting in an alternate 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1, and it does not share any similarity with the adenosine A3 receptor.
      Source sequence(s)
      BC041707, HY011888
      Consensus CDS
      CCDS41369.1
      UniProtKB/Swiss-Prot
      P0DMS9, Q5QNY7, Q6P2N6
      Related
      ENSP00000358731.4, ENST00000369717.8
      Conserved Domains (1) summary
      cl11960
      Location:88 → 156
      Ig; Immunoglobulin domain

    2. NM_001302680.2 → NP_001289609.1  transmembrane and immunoglobulin domain containing 3 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, lacks an internal exon and uses an alternate splice site in another exon, thus resulting in an alternate 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1, and it does not share any similarity with the adenosine A3 receptor.
      Source sequence(s)
      BC041707, BI828255, HY011888
      UniProtKB/TrEMBL
      Q5QNY8
      Related
      ENSP00000398770.1, ENST00000443498.5
      Conserved Domains (1) summary
      cl11960
      Location:51 → 68
      Ig; Immunoglobulin domain

    3. NM_020683.7 → NP_065734.5  transmembrane and immunoglobulin domain containing 3 isoform 1

      See identical proteins and their annotated locations for NP_065734.5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). It shares its 5' terminal exon with the adenosine A3 receptor gene (GeneID:140), and it thus produces a fusion protein that includes the adenosine A3 receptor protein N-terminus fused to the product of this gene (GeneID:57413).
      Source sequence(s)
      AL390195, AY358644
      Consensus CDS
      CCDS838.1
      UniProtKB/Swiss-Prot
      P0DMS9
      Related
      ENSP00000358730.4, ENST00000369716.9
      Conserved Domains (2) summary
      cl11960
      Location:169 → 237
      Ig; Immunoglobulin domain
      cl21561
      Location:21 → 109
      7tm_4; Olfactory receptor

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      111483348..111563962 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      111498030..111578832 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DMS9.1 GenPept UniProtKB/Swiss-Prot:P0DMS9

    Gene LinkOut

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

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    Research Materials