TAGAP

Summary

TAGAP (T cell activation RhoGTPase activating protein, HGNC:15669) is a protein-coding gene on chromosome 6q25.3, encoding T-cell activation Rho GTPase-activating protein (Q8N103). May function as a GTPase-activating protein and may play important roles during T-cell activation.

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.

Source: NCBI Gene 117289 — RefSeq curated summary.

At a glance

• GWAS associations: 33
• Clinical variants (ClinVar): 54 total
• MANE Select transcript: NM_054114

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15669
Approved symbol	TAGAP
Name	T cell activation RhoGTPase activating protein
Location	6q25.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32631, IDDM21, ARHGAP47
Ensembl gene	ENSG00000164691
Ensembl biotype	protein_coding
OMIM	609667
Entrez	117289

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000338313, ENST00000367066, ENST00000642909, ENST00000645980, ENST00000865619

RefSeq mRNA: 4 — MANE Select: NM_054114 NM_001278733, NM_054114, NM_138810, NM_152133

CCDS: CCDS5261, CCDS5263

Canonical transcript exons

ENST00000367066 — 10 exons

Exon	Start	End
ENSE00000000361	159044879	159044991
ENSE00000000362	159034481	159037124
ENSE00001086619	159038114	159038228
ENSE00001368833	159039114	159039309
ENSE00002223440	159042078	159042244
ENSE00003475168	159044120	159044204
ENSE00003548341	159043589	159043655
ENSE00003576471	159043978	159044031
ENSE00003592529	159041354	159041515
ENSE00003635222	159040723	159040832

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 97.36.

FANTOM5 (CAGE): breadth broad, TPM avg 37.3860 / max 2956.8956, expressed in 559 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76443	18.5611	451
76444	15.4600	509
76442	1.1785	219
76440	0.9460	129
76445	0.7400	154
76441	0.5005	113

Top tissues by expression

241 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	97.36	gold quality
blood	UBERON:0000178	96.93	gold quality
bone marrow	UBERON:0002371	96.42	gold quality
granulocyte	CL:0000094	96.00	gold quality
leukocyte	CL:0000738	93.69	gold quality
monocyte	CL:0000576	93.32	gold quality
vermiform appendix	UBERON:0001154	92.83	gold quality
trabecular bone tissue	UBERON:0002483	90.89	gold quality
lymph node	UBERON:0000029	90.09	gold quality
ileal mucosa	UBERON:0000331	87.86	gold quality
caecum	UBERON:0001153	86.08	gold quality
superficial temporal artery	UBERON:0001614	85.37	gold quality
spleen	UBERON:0002106	85.32	gold quality
palpebral conjunctiva	UBERON:0001812	85.29	gold quality
epithelium of nasopharynx	UBERON:0001951	84.57	gold quality
smooth muscle tissue	UBERON:0001135	84.45	gold quality
parietal pleura	UBERON:0002400	84.19	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.03	gold quality
amniotic fluid	UBERON:0000173	83.93	gold quality
tonsil	UBERON:0002372	80.22	gold quality
germinal epithelium of ovary	UBERON:0001304	79.29	gold quality
rectum	UBERON:0001052	78.82	gold quality
gall bladder	UBERON:0002110	78.58	gold quality
jejunal mucosa	UBERON:0000399	77.18	gold quality
epithelial cell of pancreas	CL:0000083	76.98	silver quality
oral cavity	UBERON:0000167	76.90	gold quality
visceral pleura	UBERON:0002401	76.77	gold quality
thymus	UBERON:0002370	76.11	gold quality
small intestine Peyer’s patch	UBERON:0003454	75.23	gold quality
esophagus squamous epithelium	UBERON:0006920	74.63	silver quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	27.00
E-ANND-3	yes	12.14
E-CURD-122	yes	9.40
E-CURD-112	no	2.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

98 targeting TAGAP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-369-3P	99.85	70.52	2264

Literature-anchored findings (GeneRIF, showing 14)

• there is strong evidence that variation within the TAGAP gene is associated with rheumatoid arthritis, type 1 diabetes and coeliac disease (PMID:20854658)
• study has refined the TAGAP signal of association to a single haplotype in rheumatoid arthritis (RA), and in doing so provides conclusive statistical evidence that the TAGAP locus is associated with RA risk (PMID:21390051)
• SNPs in regulatory regions of TAGAP and an intronic SNP (TNFAIP3) are potential susceptibility loci in African Americans. (PMID:22127930)
• Rs212388 single nucleotide polymorphism most significantly correlated with the presence and severity of anal disease in ileocolonic Crohn’s disease. (PMID:23044675)
• we suggest that polymorphism rs212389 better predicts the association of TAGAP locus with RA. (PMID:23453471)
• 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 (PMID:24582067)
• SNPs in TAGAP are associated with increased risk of candidemia. (PMID:25197941)
• 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. (PMID:26765264)
• meta-analysis provides robust estimates that polymorphisms in LPP and TAGAP genes are potential risk factors for celiac disease in Europeans and Americans (PMID:28208589)
• Results suggested that TAGAP rs1738074 polymorphism could be considered as a risk factor in the prevalence of multiple sclerosis in the Iranian population (PMID:28356229)
• 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. (PMID:29017772)
• 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 (PMID:29329296)
• An attempt to unravel the association of TAGAP gene SNPs with rheumatoid arthritis in the Indian population using high-resolution melting analysis. (PMID:35597527)
• TAGAP expression influences CD4+ T cell differentiation, immune infiltration, and cytotoxicity in LUAD through the STAT pathway: implications for immunotherapy. (PMID:37744350)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	tagapa	ENSDARG00000002353
danio_rerio	tagapb	ENSDARG00000043475
danio_rerio	si:ch211-122h15.4	ENSDARG00000096635
mus_musculus	Tagap	ENSMUSG00000033450
mus_musculus	Tagap1	ENSMUSG00000052031
rattus_norvegicus	Tagap	ENSRNOG00000018915
drosophila_melanogaster	RhoGAP71E	FBGN0036518
caenorhabditis_elegans		WBGENE00007064

Paralogs (1): ARHGAP20 (ENSG00000137727)

Protein

Protein identifiers

T-cell activation Rho GTPase-activating protein — Q8N103 (reviewed: Q8N103)

Alternative names: T-cell activation GTPase-activating protein

All UniProt accessions (3): A0A2R8YEB9, A0AAQ5BID7, Q8N103

UniProt curated annotations — full annotation on UniProt →

Function. May function as a GTPase-activating protein and may play important roles during T-cell activation.

Miscellaneous. Dubious isoform. The N-terminus appears to be derived from exons of the CEP43 locus which is located on the opposing strand of chromosome 6 at a distance of several Mb.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8N103-1	1	yes
Q8N103-2	2
Q8N103-3	3, FKSG15
Q8N103-4	4

RefSeq proteins (4): NP_001265662, NP_473455, NP_620165, NP_687034 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR047886	ARHGAP20-like_RhoGAP	Domain

Pfam: PF00620

UniProt features (19 total): compositionally biased region 6, splice variant 5, region of interest 3, chain 1, domain 1, site 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N103-F1	57.36	0.25

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 123 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (1): 400

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 206 (showing top): TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_DUCTAL_NORMAL_UP, MODULE_97, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, MODULE_182, RACCACAR_AML_Q6, chr6q25, LEE_NAIVE_T_LYMPHOCYTE, FOSTER_TOLERANT_MACROPHAGE_UP, TURASHVILI_BREAST_LOBULAR_CARCINOMA_VS_LOBULAR_NORMAL_DN, TGACATY_UNKNOWN, GOBP_REGULATION_OF_RHO_PROTEIN_SIGNAL_TRANSDUCTION, MYOD_Q6, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION

GO Biological Process (3): signal transduction (GO:0007165), regulation of Rho protein signal transduction (GO:0035023), regulation of small GTPase mediated signal transduction (GO:0051056)

GO Molecular Function (3): guanyl-nucleotide exchange factor activity (GO:0005085), GTPase activator activity (GO:0005096), protein binding (GO:0005515)

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RHO GTPase cycle	3
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
GTPase regulator activity	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
Rho protein signal transduction	1
regulation of small GTPase mediated signal transduction	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
GTP binding	1
GDP binding	1
GTPase activity	1
enzyme activator activity	1
binding	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1976 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAGAP	RSPH3	Q86UC2	835
TAGAP	SH2B3	Q9UQQ2	798
TAGAP	BLTP1	Q2LD37	733
TAGAP	RGS1	Q08116	726
TAGAP	ADAD1	Q96M93	680
TAGAP	PTPN2	P17706	667
TAGAP	IL18R1	Q13478	663
TAGAP	C1QTNF6	Q9BXI9	639
TAGAP	BACH2	Q9BYV9	629
TAGAP	LCE4A	Q5TA78	621
TAGAP	CLEC16A	Q2KHT3	619
TAGAP	TOR1A	O14656	582
TAGAP	PRKCQ	Q04759	571
TAGAP	Q5Y7H0	Q5Y7H0	549
TAGAP	IL18RAP	O95256	544

IntAct

120 interactions, top by confidence:

A	B	Type	Score
TAGAP	SNTA1	psi-mi:“MI:0407”(direct interaction)	0.590
TAGAP	SNTB1	psi-mi:“MI:0407”(direct interaction)	0.590
HSF2BP	TAGAP	psi-mi:“MI:0915”(physical association)	0.560
TAGAP	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	PTPN3	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	SYNJ2BP	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	IL16	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	SNTG1	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	TJP2	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	SNTG2	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	FRMPD2	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	LIN7C	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	PDZRN3	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	DLG2	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
TAGAP	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
HTRA1	TAGAP	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (18): TAGAP (Two-hybrid), TAGAP (Affinity Capture-MS), DTNA (Affinity Capture-MS), DTNB (Affinity Capture-MS), SNTA1 (Affinity Capture-MS), SNTB1 (Affinity Capture-MS), SNTB2 (Affinity Capture-MS), UTRN (Affinity Capture-MS), BLK (Affinity Capture-MS), CTNNAL1 (Affinity Capture-MS), METTL18 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), VRK1 (Affinity Capture-MS), CHMP3 (Affinity Capture-MS), PUS7 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JUG7, A1L390, A2AHC3, B2RWW0, O14924, O43182, O54834, O54960, O94885, P59808, P80192, P97434, Q13009, Q17R10, Q3U1V8, Q3U214, Q4VAC9, Q5DTU0, Q5DU25, Q5JU85, Q5RBI7, Q5SXA9, Q60610, Q6DN90, Q6NXJ0, Q6P0Q8, Q6P1I6, Q6P720, Q6P9R4, Q6WCQ1, Q6XZF7, Q76G19, Q76LL6, Q7T2V3, Q80Z38, Q810W7, Q8IX03, Q8N103, Q8R0S2, Q8R4H2

Diamond homologs: B2RWW0, D3ZFJ3, E7EZG2, E7F3F0, F1LQX4, P0CAX8, P55194, P85298, Q07960, Q10164, Q14CB8, Q17R89, Q3KRB8, Q3UIA2, Q54WY8, Q54XT6, Q54Y72, Q55GP8, Q5F3G0, Q5FWK3, Q5SSM3, Q6IFT4, Q6P4F7, Q6REY9, Q6Y5D8, Q6ZT62, Q80Y19, Q8BL80, Q8BRH3, Q8N103, Q99N37, Q9CXP4, Q9P2F6, Q9WVM1, Q9Y3L3, A0A0G2JTR4, A1A4S6, A4II46, A6QNS3, A6X8Z5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
TAGAP	“down-regulates activity”	RHOA	“gtpase-activating protein”
TAGAP	“down-regulates activity”	RAC1	“gtpase-activating protein”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	56.0×	8e-07
Unblocking of NMDA receptors, glutamate binding and activation	5	53.3×	8e-07
Negative regulation of NMDA receptor-mediated neuronal transmission	5	53.3×	8e-07
Assembly and cell surface presentation of NMDA receptors	10	49.8×	3e-13
Dopamine Neurotransmitter Release Cycle	5	48.7×	1e-06
Long-term potentiation	5	46.6×	1e-06
Neurexins and neuroligins	11	42.5×	2e-13
Protein-protein interactions at synapses	7	36.5×	4e-08

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	75.5×	2e-14
protein localization to synapse	6	59.7×	8e-08
receptor clustering	7	56.7×	6e-09
regulation of postsynaptic membrane neurotransmitter receptor levels	5	32.2×	2e-05
protein-containing complex assembly	9	13.3×	2e-06
cell-cell adhesion	10	13.2×	4e-07
regulation of small GTPase mediated signal transduction	5	9.3×	3e-03
protein localization to plasma membrane	5	7.1×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

54 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	3
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

764 predictions. Top by Δscore:

Variant	Effect	Δscore
6:159037120:CACAT:C	acceptor_gain	1.0000
6:159037122:CAT:C	acceptor_gain	1.0000
6:159037123:AT:A	acceptor_gain	1.0000
6:159037125:C:CA	acceptor_loss	1.0000
6:159037125:C:CC	acceptor_gain	1.0000
6:159037126:T:A	acceptor_loss	1.0000
6:159038109:CATA:C	donor_loss	1.0000
6:159038111:TACCT:T	donor_loss	1.0000
6:159038112:A:C	donor_loss	1.0000
6:159038224:TTCAC:T	acceptor_gain	1.0000
6:159038225:TCAC:T	acceptor_gain	1.0000
6:159038226:CAC:C	acceptor_gain	1.0000
6:159038226:CACC:C	acceptor_gain	1.0000
6:159038227:AC:A	acceptor_gain	1.0000
6:159038228:CC:C	acceptor_gain	1.0000
6:159038228:CCTG:C	acceptor_loss	1.0000
6:159038229:C:A	acceptor_loss	1.0000
6:159038229:C:CC	acceptor_gain	1.0000
6:159038230:T:G	acceptor_loss	1.0000
6:159039109:CAAA:C	donor_loss	1.0000
6:159039110:AAACC:A	donor_loss	1.0000
6:159039111:AAC:A	donor_loss	1.0000
6:159039112:ACC:A	donor_loss	1.0000
6:159039305:CAACC:C	acceptor_gain	1.0000
6:159039306:AACC:A	acceptor_gain	1.0000
6:159039307:ACC:A	acceptor_gain	1.0000
6:159039308:CC:C	acceptor_gain	1.0000
6:159039308:CCC:C	acceptor_gain	1.0000
6:159039309:CC:C	acceptor_gain	1.0000
6:159039310:C:CC	acceptor_gain	1.0000

AlphaMissense

4829 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:159040778:A:G	W178R	0.997
6:159040778:A:T	W178R	0.997
6:159041463:C:A	R123M	0.997
6:159041462:C:A	R123S	0.996
6:159041462:C:G	R123S	0.996
6:159041463:C:G	R123T	0.996
6:159041466:A:G	F122S	0.996
6:159041469:A:T	I121K	0.996
6:159039196:G:T	A234D	0.995
6:159041354:C:A	K159N	0.995
6:159041354:C:G	K159N	0.995
6:159042135:A:C	F86L	0.995
6:159042135:A:T	F86L	0.995
6:159042137:A:G	F86L	0.995
6:159039199:A:G	L233P	0.994
6:159039213:C:A	M228I	0.994
6:159039213:C:G	M228I	0.994
6:159039213:C:T	M228I	0.994
6:159039214:A:G	M228T	0.994
6:159040776:C:A	W178C	0.994
6:159040776:C:G	W178C	0.994
6:159041418:A:G	L138P	0.994
6:159041430:A:G	L134P	0.994
6:159041488:C:G	G115R	0.994
6:159037087:G:C	S312R	0.993
6:159037087:G:T	S312R	0.993
6:159037089:T:G	S312R	0.993
6:159040827:G:C	F161L	0.993
6:159040827:G:T	F161L	0.993
6:159040828:A:G	F161S	0.993

dbSNP variants (sampled 300 via entrez): RS1000412339 (6:159045152 C>G,T), RS1000491823 (6:159040954 C>T), RS1000953049 (6:159041152 A>G), RS1000992306 (6:159046119 G>A), RS1001690527 (6:159040632 C>G,T), RS1002438492 (6:159034237 G>A), RS1002450998 (6:159038287 T>C), RS1002800336 (6:159044991 C>A,G,T), RS1003014929 (6:159046781 A>G), RS1003323504 (6:159037278 A>G), RS1003392427 (6:159043350 G>A,T), RS1004263612 (6:159045312 T>C), RS1004400640 (6:159035571 G>A,C), RS1004454566 (6:159035277 C>T), RS1004658995 (6:159043287 CTG>C)

Disease associations

OMIM: gene MIM:609667 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

33 associations (top):

Study	Trait	p-value
GCST000157_3	Celiac disease	7.000000e-08
GCST000612_4	Celiac disease	3.000000e-15
GCST000879_37	Crohn’s disease	2.000000e-11
GCST000955_2	Crohn’s disease and celiac disease	2.000000e-10
GCST001198_37	Multiple sclerosis	7.000000e-15
GCST001341_10	Multiple sclerosis	4.000000e-07
GCST001729_1	Crohn’s disease	3.000000e-14
GCST002318_49	Rheumatoid arthritis	3.000000e-11
GCST002318_50	Rheumatoid arthritis	2.000000e-10
GCST002397_4	Bladder cancer (smoking interaction)	1.000000e-06
GCST002520_8	Celiac disease	8.000000e-09
GCST002746_11	Lipoprotein (a) - cholesterol levels	5.000000e-09
GCST003127_12	Lipoprotein (a) levels	5.000000e-11
GCST005523_25	Celiac disease	9.000000e-16
GCST005523_26	Celiac disease	3.000000e-06
GCST005527_26	Psoriasis	3.000000e-08
GCST005531_122	Multiple sclerosis	8.000000e-21
GCST005531_95	Multiple sclerosis	6.000000e-07
GCST005568_24	Rheumatoid arthritis (ACPA-positive)	1.000000e-06
GCST005568_35	Rheumatoid arthritis (ACPA-positive)	9.000000e-09
GCST005752_142	Systemic lupus erythematosus	2.000000e-06
GCST006048_3	Rheumatoid arthritis (ACPA-positive)	1.000000e-10
GCST006959_158	Rheumatoid arthritis	6.000000e-11
GCST006959_17	Rheumatoid arthritis	6.000000e-10
GCST008489_20	Celiac disease	3.000000e-08
GCST008489_21	Celiac disease	2.000000e-08
GCST008644_2	Celiac disease and Rheumatoid arthritis	6.000000e-11
GCST009597_146	Multiple sclerosis	3.000000e-35
GCST009873_38	Autoimmune traits (pleiotropy)	7.000000e-14
GCST009874_16	Celiac disease	1.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006925	lipoprotein A measurement
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs394581	TAGAP		0.00	0
rs1738074	TAGAP		0.00	0

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TL8-506	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
motexafin gadolinium	affects cotreatment, increases expression	1
Arsenic Trioxide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Allergens	decreases expression	1
Arsenic	affects expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Cisplatin	increases expression	1
Dieldrin	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Phthalic Acids	increases methylation	1
Poly I-C	affects cotreatment, increases expression	1
Dronabinol	increases expression	1
Tretinoin	increases expression	1
Antirheumatic Agents	decreases expression	1
Zinc Acetate	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.