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

Gene ID: 57413, updated on 5-Mar-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
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Genomic context

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Location:
1p13.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (111483348..111563962, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (111498030..111578832, complement)
105.20220307 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
  • 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 response to wounding TAS
Traceable Author Statement
more info
 PubMed 
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_2023_10

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

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