ENTPD6

Summary

ENTPD6 (ectonucleoside triphosphate diphosphohydrolase 6, HGNC:3368) is a protein-coding gene on chromosome 20p11.21, encoding Ectonucleoside triphosphate diphosphohydrolase 6 (O75354). Catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner.

ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 955 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 92 total
• MANE Select transcript: NM_001247

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3368
Approved symbol	ENTPD6
Name	ectonucleoside triphosphate diphosphohydrolase 6
Location	20p11.21
Locus type	gene with protein product
Status	Approved
Aliases	NTPDase-6, dJ738P15.3
Ensembl gene	ENSG00000197586
Ensembl biotype	protein_coding
OMIM	603160
Entrez	955

Gene structure

Transcript identifiers

Ensembl transcripts: 48 — 43 protein_coding, 5 protein_coding_CDS_not_defined

ENST00000354989, ENST00000360031, ENST00000376652, ENST00000376666, ENST00000417467, ENST00000418890, ENST00000425813, ENST00000427553, ENST00000433259, ENST00000433417, ENST00000435520, ENST00000439162, ENST00000447877, ENST00000463734, ENST00000471478, ENST00000481322, ENST00000485936, ENST00000490187, ENST00000886616, ENST00000886617, ENST00000886618, ENST00000886619, ENST00000886620, ENST00000886621, ENST00000886622, ENST00000886623, ENST00000886624, ENST00000886625, ENST00000886626, ENST00000886627, ENST00000886628, ENST00000886629, ENST00000886630, ENST00000886631, ENST00000886632, ENST00000886633, ENST00000886634, ENST00000913217, ENST00000913218, ENST00000913219, ENST00000913220, ENST00000954408, ENST00000954409, ENST00000954410, ENST00000954411, ENST00000954412, ENST00000954413, ENST00000954414

RefSeq mRNA: 24 — MANE Select: NM_001247 NM_001114089, NM_001247, NM_001317941, NM_001322378, NM_001322379, NM_001322380, NM_001322381, NM_001322382, NM_001322383, NM_001322384, NM_001322385, NM_001322386, NM_001322387, NM_001322388, NM_001322389, NM_001322390, NM_001322391, NM_001322392, NM_001322393, NM_001322394, NM_001322395, NM_001322396, NM_001322397, NM_001322398

CCDS: CCDS13170, CCDS82603, CCDS82604

Canonical transcript exons

ENST00000376652 — 15 exons

Exon	Start	End
ENSE00000660991	25209849	25209925
ENSE00000660992	25213263	25213406
ENSE00000660993	25214867	25214942
ENSE00000859495	25215676	25215711
ENSE00001878260	25195712	25195867
ENSE00002725149	25206522	25206590
ENSE00003566114	25224101	25224157
ENSE00003659827	25216648	25216736
ENSE00003667472	25222838	25222978
ENSE00003784794	25221232	25221333
ENSE00003785939	25217502	25217581
ENSE00003786510	25218550	25218614
ENSE00003791660	25225205	25225317
ENSE00003892340	25225499	25228075
ENSE00004282679	25207076	25207397

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 98.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.1405 / max 169.5902, expressed in 1810 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183919	23.2057	1809
183920	0.8615	433
183922	0.6973	424
183918	0.2182	80
183921	0.1579	58

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	98.54	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.16	gold quality
cerebellar hemisphere	UBERON:0002245	97.93	gold quality
cerebellar cortex	UBERON:0002129	97.86	gold quality
right frontal lobe	UBERON:0002810	97.78	gold quality
right atrium auricular region	UBERON:0006631	97.63	gold quality
nucleus accumbens	UBERON:0001882	97.61	gold quality
mucosa of transverse colon	UBERON:0004991	97.58	gold quality
middle frontal gyrus	UBERON:0002702	97.28	gold quality
adenohypophysis	UBERON:0002196	97.24	gold quality
caudate nucleus	UBERON:0001873	97.06	gold quality
transverse colon	UBERON:0001157	96.95	gold quality
prefrontal cortex	UBERON:0000451	96.94	gold quality
cerebellum	UBERON:0002037	96.92	gold quality
left adrenal gland cortex	UBERON:0035825	96.87	gold quality
Brodmann (1909) area 10	UBERON:0013541	96.84	gold quality
pituitary gland	UBERON:0000007	96.80	gold quality
right adrenal gland	UBERON:0001233	96.78	gold quality
cingulate cortex	UBERON:0003027	96.75	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.75	gold quality
anterior cingulate cortex	UBERON:0009835	96.74	gold quality
right adrenal gland cortex	UBERON:0035827	96.70	gold quality
minor salivary gland	UBERON:0001830	96.69	gold quality
left adrenal gland	UBERON:0001234	96.67	gold quality
cardiac atrium	UBERON:0002081	96.64	gold quality
putamen	UBERON:0001874	96.61	gold quality
metanephros cortex	UBERON:0010533	96.44	gold quality
small intestine Peyer’s patch	UBERON:0003454	96.34	gold quality
frontal pole	UBERON:0002795	96.32	gold quality
saliva-secreting gland	UBERON:0001044	96.29	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

55 targeting ENTPD6, 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-4262	100.00	73.26	3931
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-6126	99.62	68.09	996
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844

Literature-anchored findings (GeneRIF, showing 1)

• A secondary structural model of NTPDase-6 is proposed based on disulfide architecture (four conserved cysteine residues Cys249-Cys280 and Cys340-Cys354, circular dichroism data, and regions of conservation among all NTPDases. (PMID:14529283)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	entpd6	ENSDARG00000008757
mus_musculus	Entpd6	ENSMUSG00000033068
rattus_norvegicus	Entpd6	ENSRNOG00000007427
drosophila_melanogaster	NTPase	FBGN0024947
caenorhabditis_elegans		WBGENE00010697

Paralogs (7): ENTPD2 (ENSG00000054179), ENTPD1 (ENSG00000138185), ENTPD3 (ENSG00000168032), ENTPD5 (ENSG00000187097), ENTPD8 (ENSG00000188833), ENTPD4 (ENSG00000197217), ENTPD7 (ENSG00000198018)

Protein

Protein identifiers

Ectonucleoside triphosphate diphosphohydrolase 6 — O75354 (reviewed: O75354)

Alternative names: CD39 antigen-like 2

All UniProt accessions (11): O75354, H0Y3D0, H0Y473, H0Y5X0, H0Y6Q1, Q5QPI7, Q5QPI9, Q5QPJ3, Q5QPJ4, Q5QPJ6, Q5QPJ7

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner. Has a strong preference for nucleoside diphosphates, preferentially hydrolyzes GDP, IDP, and UDP, with slower hydrolysis of CDP, ITP, GTP, CTP, ADP, and UTP and virtually no hydrolysis of ATP. The membrane bound form might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides.

Subunit / interactions. Monomer.

Subcellular location. Golgi apparatus membrane. Secreted. Cell membrane.

Tissue specificity. Expressed in most tissues, but predominantly in heart.

Post-translational modifications. The secreted form may be produced by intracellular processing. N-glycosylated.

Activity regulation. Glycosylation does not appear to be required for enzymatic activity.

Cofactor. Strongly and equally activated by either Ca(2+) or Mg(2+).

Similarity. Belongs to the GDA1/CD39 NTPase family.

Isoforms (3)

UniProt ID	Names	Canonical?
O75354-1	1	yes
O75354-2	2
O75354-3	3

RefSeq proteins (24): NP_001107561, NP_001238, NP_001304870, NP_001309307, NP_001309308, NP_001309309, NP_001309310, NP_001309311, NP_001309312, NP_001309313, NP_001309314, NP_001309315, NP_001309316, NP_001309317, NP_001309318, NP_001309319, NP_001309320, NP_001309321, NP_001309322, NP_001309323, NP_001309324, NP_001309325, NP_001309326, NP_001309327 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000407	GDA1_CD39_NTPase	Family

Pfam: PF01150

Enzyme classification (BRENDA):

• EC 3.6.1.6 — nucleoside diphosphate phosphatase (BRENDA: 19 organisms, 85 substrates, 36 inhibitors, 52 Km, 27 kcat entries)

Substrate kinetics (BRENDA)

9 substrates with measured Km, best-characterized 9. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GDP	0.0549–4	12
ADP	0.0885–2.1	11
UDP	0.18–2.5	8
IDP	0.48–3.5	7
ATP	0.0746–0.5158	5
GTP	0.077–0.8844	4
CDP	0.303	1
TDP	0.203	1
THIAMINE DIPHOSPHATE	0.66	1

Catalyzed reactions (Rhea), 4 shown:

• GDP + H2O = GMP + phosphate + H(+) (RHEA:22156)
• IDP + H2O = IMP + phosphate + H(+) (RHEA:35207)
• a ribonucleoside 5’-diphosphate + H2O = a ribonucleoside 5’-phosphate + phosphate + H(+) (RHEA:36799)
• UDP + H2O = UMP + phosphate + H(+) (RHEA:64876)

UniProt features (32 total): binding site 15, sequence variant 5, topological domain 2, glycosylation site 2, disulfide bond 2, splice variant 2, chain 1, transmembrane region 1, mutagenesis site 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75354-F1	83.21	0.65

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): 224 (proton acceptor)

Ligand- & substrate-binding residues (15): 182; 182; 254; 254; 254; 255; 255; 256; 256; 384; 110; 110 …

Disulfide bonds (2): 325–356, 416–430

Glycosylation sites (2): 220, 284

Mutagenesis-validated functional residues (1):

Position	Phenotype
215	does not affect nucleoside-triphosphatase activity. does not affeet km for gdp.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8850843	Phosphate bond hydrolysis by NTPDase proteins

MSigDB gene sets: 150 (showing top): GOCC_CELL_SURFACE, GOBP_RESPONSE_TO_METAL_ION, GOBP_RESPONSE_TO_MAGNESIUM_ION, KEGG_PURINE_METABOLISM, BURTON_ADIPOGENESIS_4, GOBP_RESPONSE_TO_CALCIUM_ION, GOMF_NUCLEOSIDE_DIPHOSPHATE_PHOSPHATASE_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, chr20p11, CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_DN, HOFFMANN_IMMATURE_TO_MATURE_B_LYMPHOCYTE_UP, KIM_ALL_DISORDERS_OLIGODENDROCYTE_NUMBER_CORR_UP, KIM_BIPOLAR_DISORDER_OLIGODENDROCYTE_DENSITY_CORR_UP, FIGUEROA_AML_METHYLATION_CLUSTER_1_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_C

GO Biological Process (2): response to magnesium ion (GO:0032026), response to calcium ion (GO:0051592)

GO Molecular Function (10): GDP phosphatase activity (GO:0004382), guanosine-5’-triphosphate,3’-diphosphate diphosphatase activity (GO:0008894), nucleoside diphosphate phosphatase activity (GO:0017110), ribonucleoside triphosphate phosphatase activity (GO:0017111), CDP phosphatase activity (GO:0036384), UDP phosphatase activity (GO:0045134), IDP phosphatase activity (GO:1990003), nucleotide binding (GO:0000166), ATP binding (GO:0005524), hydrolase activity (GO:0016787)

GO Cellular Component (7): Golgi membrane (GO:0000139), extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Nucleotide catabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleoside diphosphate phosphatase activity	4
pyrophosphatase activity	3
cellular anatomical structure	3
response to metal ion	2
nucleoside phosphate binding	1
heterocyclic compound binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1002 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ENTPD6	CFAP97D1	B2RV13	542
ENTPD6	CMPK1	P30085	489
ENTPD6	ENTPD3	O75355	458
ENTPD6	TXNDC8	Q6A555	449
ENTPD6	ENTPD1	P49961	443
ENTPD6	MRPL34	Q9BQ48	421
ENTPD6	ENTPD2	Q9Y5L3	421
ENTPD6	ZNF169	Q14929	418
ENTPD6	ENTPD7	Q9NQZ7	383
ENTPD6	ENTPD4	Q9Y227	371
ENTPD6	ZFR2	Q9UPR6	370
ENTPD6	AK1	P00568	364
ENTPD6	ENPP5	Q9UJA9	359
ENTPD6	ALDH18A1	P54886	356
ENTPD6	CFAP43	Q8NDM7	351

IntAct

64 interactions, top by confidence:

A	B	Type	Score
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
NCEH1	CLGN	psi-mi:“MI:0914”(association)	0.530
PON2	NPC1	psi-mi:“MI:0914”(association)	0.530
SPCS3	ENTPD6	psi-mi:“MI:0914”(association)	0.530
CHRNA4	FZD6	psi-mi:“MI:0914”(association)	0.530
HFE	ADAM10	psi-mi:“MI:0914”(association)	0.530
HLA-DRA	ENTPD6	psi-mi:“MI:0914”(association)	0.530
ENTPD6	NPSR1	psi-mi:“MI:0915”(physical association)	0.370
GSK3B	ENTPD6	psi-mi:“MI:0915”(physical association)	0.370
rep	BMPR1B	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
CHRNB2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
GGT7	ENTPD6	psi-mi:“MI:0914”(association)	0.350
GAA	ENTPD6	psi-mi:“MI:0914”(association)	0.350
PON2	ENTPD6	psi-mi:“MI:0914”(association)	0.350
ENTPD6	ACTA2	psi-mi:“MI:0914”(association)	0.350
APOM	ESYT2	psi-mi:“MI:0914”(association)	0.350
TMEM106A	TMEM131L	psi-mi:“MI:0914”(association)	0.350
HLA-G	TMEM131L	psi-mi:“MI:0914”(association)	0.350
BTNL2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SFTPC	TMEM131L	psi-mi:“MI:0914”(association)	0.350
BRICD5	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LY86	TMEM131L	psi-mi:“MI:0914”(association)	0.350
PTCH1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
ASIC4	TMEM131L	psi-mi:“MI:0914”(association)	0.350

BioGRID (63): ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Affinity Capture-MS), ENTPD6 (Positive Genetic), ENTPD6 (Affinity Capture-MS), ENTPD6 (Proximity Label-MS)

ESM2 similar proteins: A0A0D3QS98, A0A0D3QS99, A4D0V7, C5H5C4, F6Q1T7, O70309, O75354, P17405, P18084, P18424, P22413, P50747, P52850, P58242, P61642, P80747, Q04519, Q0VBD0, Q0VD19, Q13219, Q52KP5, Q58CQ9, Q5QQ51, Q5STE3, Q64687, Q6DFZ6, Q6KFX9, Q6MZW2, Q6P988, Q6UWX4, Q6YGZ1, Q6ZXD2, Q71RP1, Q812F8, Q8BJQ9, Q8C1F4, Q8C419, Q8N5D6, Q8N6G5, Q8R116

Diamond homologs: A0JND9, D2GZV9, O18956, O35795, O55026, O75354, O75355, O75356, O93295, P49961, P55772, P79784, P97687, Q3U0P5, Q5DRK1, Q5MY95, Q6NQA8, Q6P6S9, Q8BFW6, Q8H1D8, Q8H7L6, Q8K0L2, Q9ER31, Q9MYU4, Q9QYC8, Q9SQG2, Q9WUZ9, Q9XU84, Q9Y5L3, E1BPW0, E1C1L6, O80612, P32621, P52914, P80595, Q2QYE1, Q6Z4P2, Q8TGG8, Q8TGH6, Q9HEM6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 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.

GO biological processes:

GO term	Partners	Fold	FDR
synaptic transmission, cholinergic	5	50.8×	2e-05
acetylcholine receptor signaling pathway	5	39.5×	3e-05
positive regulation of T cell mediated cytotoxicity	5	32.3×	6e-05
membrane depolarization	5	32.3×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	62
Likely benign	10
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2803 predictions. Top by Δscore:

Variant	Effect	Δscore
20:25207347:G:GT	donor_gain	1.0000
20:25209835:T:G	acceptor_gain	1.0000
20:25209845:TTAG:T	acceptor_loss	1.0000
20:25209847:A:AG	acceptor_gain	1.0000
20:25209847:A:AT	acceptor_loss	1.0000
20:25209848:G:GT	acceptor_gain	1.0000
20:25209848:GA:G	acceptor_gain	1.0000
20:25209848:GAA:G	acceptor_gain	1.0000
20:25209848:GAAA:G	acceptor_gain	1.0000
20:25209924:AGG:A	donor_loss	1.0000
20:25209925:GGTAA:G	donor_loss	1.0000
20:25209926:GTA:G	donor_loss	1.0000
20:25209927:T:A	donor_loss	1.0000
20:25213250:ACCAC:A	acceptor_gain	1.0000
20:25213253:A:AG	acceptor_gain	1.0000
20:25213253:AC:A	acceptor_gain	1.0000
20:25213254:C:CA	acceptor_gain	1.0000
20:25213254:C:G	acceptor_gain	1.0000
20:25213262:GA:G	acceptor_gain	1.0000
20:25213262:GAGC:G	acceptor_gain	1.0000
20:25213403:GAAG:G	donor_gain	1.0000
20:25215789:G:GT	donor_gain	1.0000
20:25216635:T:TA	acceptor_gain	1.0000
20:25216638:T:TA	acceptor_gain	1.0000
20:25216640:T:TA	acceptor_gain	1.0000
20:25216647:GGCA:G	acceptor_gain	1.0000
20:25216734:GAGG:G	donor_loss	1.0000
20:25216735:AGG:A	donor_loss	1.0000
20:25216736:GGTA:G	donor_loss	1.0000
20:25216738:T:G	donor_loss	1.0000

AlphaMissense

3133 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:25221255:A:C	S323R	0.996
20:25221257:C:A	S323R	0.996
20:25221257:C:G	S323R	0.996
20:25221261:T:C	C325R	0.996
20:25221261:T:A	C325S	0.995
20:25221262:G:C	C325S	0.995
20:25222934:C:A	A381D	0.994
20:25216704:T:C	S256P	0.993
20:25218579:G:C	R303P	0.993
20:25207349:A:C	S110R	0.992
20:25207351:C:A	S110R	0.992
20:25207351:C:G	S110R	0.992
20:25207362:G:C	R114P	0.992
20:25213345:T:C	L179P	0.992
20:25218564:G:A	G298E	0.992
20:25221290:G:C	W334C	0.992
20:25221290:G:T	W334C	0.992
20:25214941:A:C	E224D	0.991
20:25214941:A:T	E224D	0.991
20:25221262:G:A	C325Y	0.991
20:25221263:C:G	C325W	0.991
20:25225532:T:A	W464R	0.991
20:25225532:T:C	W464R	0.991
20:25215687:T:A	W229R	0.990
20:25215687:T:C	W229R	0.990
20:25218563:G:T	G298W	0.990
20:25225259:T:C	L433P	0.990
20:25216705:C:A	S256Y	0.989
20:25218563:G:A	G298R	0.989
20:25218563:G:C	G298R	0.989

dbSNP variants (sampled 300 via entrez): RS1000013920 (20:25214629 G>A), RS1000181736 (20:25222117 AC>A), RS1000234159 (20:25222259 G>A), RS1000482805 (20:25216580 C>T), RS1000669678 (20:25197115 A>C), RS1000700927 (20:25196849 C>T), RS1000718205 (20:25200140 T>C), RS1000820914 (20:25204376 G>A), RS1000866914 (20:25219589 G>T), RS1000885296 (20:25202974 C>T), RS1000890554 (20:25219326 G>A), RS1000931937 (20:25193891 C>T), RS1001176279 (20:25206706 C>T), RS1001194172 (20:25221004 G>A), RS1001337410 (20:25228487 A>G)

Disease associations

OMIM: gene MIM:603160 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001310_1	Allergic rhinitis	1.000000e-06
GCST002875_96	Diisocyanate-induced asthma	2.000000e-06
GCST008129_34	Body mass index	2.000000e-16
GCST008129_62	Body mass index	2.000000e-10
GCST010703_48	Brain morphology (MOSTest)	1.000000e-08
GCST010988_319	Adult body size	1.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0004340	body mass index
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	4
bisphenol A	increases methylation, affects cotreatment, decreases expression	2
Arsenic	affects methylation, increases abundance, increases expression	2
bisphenol F	affects cotreatment, decreases expression	1
beta-lapachone	increases expression	1
nickel sulfate	decreases expression	1
Temozolomide	increases expression	1
Acetaminophen	decreases expression	1
Cisplatin	affects binding, decreases response to substance	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tretinoin	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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