TAGAP T cell activation RhoGTPase activating protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAGAPprovided by HGNC
Official Full Name: T cell activation RhoGTPase activating proteinprovided by HGNC
Primary source: HGNC:HGNC:15669
See related: Ensembl:ENSG00000164691 MIM:609667; AllianceGenome:HGNC:15669
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FKSG15; IDDM21; TAGAP1; ARHGAP47
Summary: This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]
Expression: Biased expression in bone marrow (RPKM 44.8), lymph node (RPKM 19.7) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (159034481..159044991, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (160280073..160290583, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (159455513..159466023, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

TAGAP expression influences CD4+ T cell differentiation, immune infiltration, and cytotoxicity in LUAD through the STAT pathway: implications for immunotherapy.
Title: TAGAP expression influences CD4+ T cell differentiation, immune infiltration, and cytotoxicity in LUAD through the STAT pathway: implications for immunotherapy.
An attempt to unravel the association of TAGAP gene SNPs with rheumatoid arthritis in the Indian population using high-resolution melting analysis.
Title: An attempt to unravel the association of TAGAP gene SNPs with rheumatoid arthritis in the Indian population using high-resolution melting analysis.
These findings indicate that increased TAGAP expression is a distinguishing feature of inflammatory disease and further highlight the role of TAGAP in rheumatoid arthritis susceptibility.
Title: T cell activation Rho GTPase activating protein (TAGAP) is upregulated in clinical and experimental arthritis.
This is the first comprehensive study, where TAGAP gene variants were analyzed using in silico tools hence will be of great help while considering large scale studies and also in developing precision medicines for cure of diseases related to these polymorphisms
Title: Identification and in silico analysis of functional SNPs of human TAGAP protein: A comprehensive study.
Results suggested that TAGAP rs1738074 polymorphism could be considered as a risk factor in the prevalence of multiple sclerosis in the Iranian population
Title: Association of rs1738074 polymorphism of TAGAP gene with susceptibility to multiple sclerosis in the Iranian population.
meta-analysis provides robust estimates that polymorphisms in LPP and TAGAP genes are potential risk factors for celiac disease in Europeans and Americans
Title: Association of LPP and TAGAP Polymorphisms with Celiac Disease Risk: A Meta-Analysis.
IL2RA and TAGAP are novel vitamin D target genes. The vitamin D response is observed in samples from both the multiple sclerosis (MS) patients and controls, and is not dependent on the genotype of MS-associated SNPs in the respective genes.
Title: The multiple sclerosis susceptibility genes TAGAP and IL2RA are regulated by vitamin D in CD4+ T cells.
SNPs in TAGAP are associated with increased risk of candidemia.
Title: Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia.
Colonic expression of TAGAP in Crohn's disease varies according to disease severity and location, being the most elevated in patients with severe disease in the sigmoid colon
Title: T-cell activation Rho GTPase-activating protein expression varies with inflammation location and severity in Crohn's disease.
we suggest that polymorphism rs212389 better predicts the association of TAGAP locus with RA.
Title: Validation of the TAGAP rs212389 polymorphism in rheumatoid arthritis susceptibility.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide interaction study of smoking and bladder cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple common variants for celiac disease influencing immune gene expression. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified genetic risk variants for celiac disease related to the immune response. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat downregulates the expression of T-cell activation RhoGTPase activating protein (TAGAP) in human primary T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	TAS Traceable Author Statement more info
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of Rho protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: T-cell activation Rho GTPase-activating protein

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.

Genomic

NG_011524.1 RefSeqGene

Range

5162..15672

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278733.2 → NP_001265662.1 T-cell activation Rho GTPase-activating protein isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate 5'-most exon, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 2. The encoded isoform (d) has a shorter N-terminus, compared to isoform b.

Source sequence(s)

AF385429, AL035530, DA819174

UniProtKB/TrEMBL

B4DQ86

Conserved Domains (1) summary

cd04402
Location:22 → 218

RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
NM_054114.5 → NP_473455.2 T-cell activation Rho GTPase-activating protein isoform b

See identical proteins and their annotated locations for NP_473455.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes the longest isoform (b).

Source sequence(s)

AF385429, AL035530

Consensus CDS

CCDS5261.1

UniProtKB/Swiss-Prot

Q2NKM8, Q8N103, Q8NI40, Q96KZ2, Q96QA2

UniProtKB/TrEMBL

B4DQ86

Related

ENSP00000356033.4, ENST00000367066.8

Conserved Domains (1) summary

cd04402
Location:85 → 281

RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
NM_138810.4 → NP_620165.1 T-cell activation Rho GTPase-activating protein isoform c

See identical proteins and their annotated locations for NP_620165.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 2. The encoded isoform (c) has a shorter and distinct C-terminus, compared to isoform b.

Source sequence(s)

AF385429, AL035530, BC015859

Consensus CDS

CCDS5263.1

UniProtKB/Swiss-Prot

Q8N103

Related

ENSP00000340217.5, ENST00000338313.5

Conserved Domains (1) summary

cd04402
Location:85 → 264

RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
NM_152133.3 → NP_687034.1 T-cell activation Rho GTPase-activating protein isoform a

See identical proteins and their annotated locations for NP_687034.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an exon in the coding region compared to variant 2, resulting in the use of a downstream start codon. The encoded isoform (a) has a shorter N-terminus compared to isoform b.

Source sequence(s)

AF385430, AL035530

Consensus CDS

CCDS5262.1

UniProtKB/TrEMBL

B4DQ86

Related

ENSP00000322650.6, ENST00000326965.7

Conserved Domains (1) summary

cl02570
Location:1 → 103

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...