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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Protein expression of TMIGD3 and A3AR is lower in human osteosarcoma tissues than normal tissues. Mechanistically, TMIGD3 isoform 1 and A3AR commonly inhibit the PKA-Akt-NF-kappaB axis.
Title: Genome-wide RNAi screening identifies TMIGD3 isoform1 as a suppressor of NF-κB and osteosarcoma progression.

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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)

General gene information

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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 immune response-activating signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
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

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)

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
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
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