PHF14

Summary

PHF14 (PHD finger protein 14, HGNC:22203) is a protein-coding gene on chromosome 7p21.3, encoding PHD finger protein 14 (O94880). Histone-binding protein.

Enables histone binding activity. Predicted to be involved in several processes, including germinal center B cell differentiation; lung development; and negative regulation of mesenchymal cell proliferation involved in lung development. Located in chromatin; cytoplasm; and nucleus.

Source: NCBI Gene 9678 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 115 total
• MANE Select transcript: NM_001007157

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22203
Approved symbol	PHF14
Name	PHD finger protein 14
Location	7p21.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0783
Ensembl gene	ENSG00000106443
Ensembl biotype	protein_coding
OMIM	619907
Entrez	9678

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 6 protein_coding, 6 retained_intron, 5 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000403050, ENST00000423760, ENST00000469407, ENST00000470665, ENST00000473050, ENST00000476009, ENST00000476774, ENST00000481418, ENST00000489305, ENST00000490957, ENST00000493922, ENST00000497851, ENST00000498784, ENST00000521747, ENST00000634607, ENST00000642461, ENST00000931753, ENST00000931754, ENST00000931755

RefSeq mRNA: 2 — MANE Select: NM_001007157 NM_001007157, NM_014660

CCDS: CCDS47542

Canonical transcript exons

ENST00000634607 — 18 exons

Exon	Start	End
ENSE00003465315	10973872	10974324
ENSE00003527632	11036985	11037091
ENSE00003529607	11013747	11013906
ENSE00003530321	11040672	11040775
ENSE00003531392	10982372	10983159
ENSE00003549075	11038760	11038855
ENSE00003558508	11036418	11036688
ENSE00003568066	11061791	11061841
ENSE00003585601	11035640	11035786
ENSE00003597349	11061964	11062085
ENSE00003598228	11051612	11051780
ENSE00003615326	10990703	10990847
ENSE00003622563	11042683	11042814
ENSE00003642853	11022868	11022979
ENSE00003682158	11028681	11028818
ENSE00003683987	10974835	10974945
ENSE00003786786	11111350	11111467
ENSE00003788028	11169416	11169618

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 95.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.1052 / max 1302.5797, expressed in 1810 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
77247	39.9695	1808
77246	3.3703	1249
77245	2.0954	614
77249	2.0733	725
77248	0.5966	308

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	95.52	gold quality
cortical plate	UBERON:0005343	95.39	gold quality
ganglionic eminence	UBERON:0004023	95.30	gold quality
calcaneal tendon	UBERON:0003701	94.99	gold quality
visceral pleura	UBERON:0002401	94.77	gold quality
germinal epithelium of ovary	UBERON:0001304	94.72	gold quality
parietal pleura	UBERON:0002400	94.42	gold quality
ventricular zone	UBERON:0003053	93.96	gold quality
pleura	UBERON:0000977	93.07	gold quality
epithelium of nasopharynx	UBERON:0001951	92.98	gold quality
gingival epithelium	UBERON:0001949	92.21	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.09	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.75	gold quality
tendon	UBERON:0000043	91.26	gold quality
tibia	UBERON:0000979	90.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.87	gold quality
gingiva	UBERON:0001828	90.86	gold quality
endometrium	UBERON:0001295	89.74	gold quality
bronchial epithelial cell	CL:0002328	89.66	gold quality
oral cavity	UBERON:0000167	89.30	gold quality
adrenal tissue	UBERON:0018303	89.05	gold quality
skin of hip	UBERON:0001554	89.01	gold quality
colonic epithelium	UBERON:0000397	88.37	gold quality
jejunal mucosa	UBERON:0000399	88.33	gold quality
lower esophagus mucosa	UBERON:0035834	88.16	gold quality
amniotic fluid	UBERON:0000173	88.06	gold quality
mucosa of transverse colon	UBERON:0004991	88.05	gold quality
palpebral conjunctiva	UBERON:0001812	87.95	gold quality
tonsil	UBERON:0002372	87.89	gold quality
left ovary	UBERON:0002119	87.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-112	yes	18.86
E-CURD-114	yes	6.65
E-ANND-3	yes	6.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

223 targeting PHF14, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487

Literature-anchored findings (GeneRIF, showing 7)

• Results show that marker rs218966 in gene PHF14 and rs9836027 in MAP4 significantly associated with hypertension; additionally, rare variants in SNUPN significantly associated with systolic blood pressure. (PMID:26866982)
• High PHF14 expression is associated with lung cancer. (PMID:28160558)
• Study revealed that miR-590 was shown to directly target PHF14 thus affecting thus affecting bladder neoplasm cellular epithelial-mesenchymal transition. (PMID:30940184)
• PHF14 Promotes Cell Proliferation and Migration through the AKT and ERK1/2 Pathways in Gastric Cancer Cells. (PMID:32596345)
• PHF14 knockdown causes apoptosis by inducing DNA damage and impairing the activity of the damage response complex in colorectal cancer. (PMID:35074497)
• The high mobility group protein HMG20A cooperates with the histone reader PHF14 to modulate TGFbeta and Hippo pathways. (PMID:36124662)
• SP4 Facilitates Esophageal Squamous Cell Carcinoma Progression by Activating PHF14 Transcription and Wnt/Beta-Catenin Signaling. (PMID:37768180)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	phf14	ENSDARG00000061458
mus_musculus	Phf14	ENSMUSG00000029629
rattus_norvegicus	Phf14	ENSRNOG00000005775
drosophila_melanogaster	CG15439	FBGN0031606
caenorhabditis_elegans		WBGENE00013339
caenorhabditis_elegans		WBGENE00021810

Paralogs (8): JADE2 (ENSG00000043143), JADE1 (ENSG00000077684), MLLT10 (ENSG00000078403), BRPF3 (ENSG00000096070), BRD1 (ENSG00000100425), JADE3 (ENSG00000102221), BRPF1 (ENSG00000156983), MLLT6 (ENSG00000275023)

Protein

Protein identifiers

PHD finger protein 14 — O94880 (reviewed: O94880)

All UniProt accessions (3): O94880, B4DG57, E5RHD5

UniProt curated annotations — full annotation on UniProt →

Function. Histone-binding protein. Binds preferentially to unmodified histone H3 but can also bind to a lesser extent to histone H3 trimethylated at ‘Lys-9’ (H3K9me3) as well as to histone H3 monomethylated at ‘Lys-27’ (H3K27ac) and trimethylated at ‘Lys-27’ (H3K27me3). Represses PDGFRA expression, thus playing a role in regulation of mesenchymal cell proliferation. Suppresses the expression of CDKN1A/p21 by reducing the level of trimethylation of histone H3 ‘Lys-4’, leading to enhanced proliferation of germinal center B cells.

Subcellular location. Nucleus. Chromosome Cytoplasm.

Domain organisation. The N-terminal region, including the PHD-type 1 and 2 zinc fingers and the C2HC pre-PHD-type zinc finger, is required for binding to histone H3.

Miscellaneous. Dubious isoform. Alternative initiation from a downstream AUG is supported by ribosome profiling data.

Isoforms (3)

UniProt ID	Names	Canonical?
O94880-3	1, PHF14-alpha	yes
O94880-1	2, PHF14-beta
O94880-2	3, PHF14-gamma

RefSeq proteins (2): NP_001007158, NP_055475 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001965	Znf_PHD	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR019786	Zinc_finger_PHD-type_CS	Conserved_site
IPR019787	Znf_PHD-finger	Domain
IPR034732	EPHD	Domain
IPR050701	Histone_Mod_Regulator	Family

Pfam: PF00628, PF13831, PF13832

UniProt features (83 total): binding site 36, modified residue 19, compositionally biased region 12, zinc finger region 5, region of interest 3, splice variant 3, chain 1, sequence variant 1, sequence conflict 1, cross-link 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94880-F1	62.84	0.09

Functional residue map

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

Ligand- & substrate-binding residues (36): 322; 325; 339; 342; 347; 350; 374; 377; 385; 388; 405; 408 …

Post-translational modifications (20): 26, 29, 84, 91, 196, 206, 208, 287, 290, 294, 298, 302, 308, 359, 530, 781, 782, 835, 651, 648

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 204 (showing top): GOBP_PLATELET_DERIVED_GROWTH_FACTOR_RECEPTOR_SIGNALING_PATHWAY, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, GOBP_B_CELL_ACTIVATION, ATGTTAA_MIR302C, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_REGULATION_OF_MESENCHYMAL_CELL_PROLIFERATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MODULE_544, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_IMMUNE_EFFECTOR_PROCESS, GOBP_MESENCHYMAL_CELL_PROLIFERATION

GO Biological Process (10): negative regulation of transcription by RNA polymerase II (GO:0000122), germinal center B cell differentiation (GO:0002314), negative regulation of cell population proliferation (GO:0008285), lung alveolus development (GO:0048286), mesenchymal cell proliferation involved in lung development (GO:0060916), negative regulation of mesenchymal cell proliferation (GO:0072201), negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584), negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791), chromatin organization (GO:0006325), mesenchymal cell proliferation (GO:0010463)

GO Molecular Function (5): zinc ion binding (GO:0008270), histone binding (GO:0042393), histone reader activity (GO:0140566), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell population proliferation	2
lung development	2
mesenchymal cell proliferation	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
mature B cell differentiation involved in immune response	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
anatomical structure development	1
negative regulation of cell population proliferation	1
regulation of mesenchymal cell proliferation	1
negative regulation of platelet-derived growth factor receptor signaling pathway	1
platelet-derived growth factor receptor-alpha signaling pathway	1
regulation of platelet-derived growth factor receptor-alpha signaling pathway	1
negative regulation of developmental process	1
negative regulation of multicellular organismal process	1
mesenchymal cell proliferation involved in lung development	1
negative regulation of mesenchymal cell proliferation	1
cellular component organization	1
transition metal ion binding	1
protein binding	1
nucleosome	1
histone binding	1
chromatin-protein adaptor activity	1
binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

752 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PHF14	EGLN2	Q96KS0	533
PHF14	PWWP2A	Q96N64	486
PHF14	EGLN3	Q9H6Z9	475
PHF14	HMG20A	Q9NP66	433
PHF14	ZNF618	Q5T7W0	428
PHF14	SARDH	Q9UL12	417
PHF14	PHF6	Q8IWS0	416
PHF14	CDC42BPG	Q6DT37	368
PHF14	BAZ2A	Q9UIF9	366
PHF14	RNF150	Q9ULK6	359
PHF14	KIAA1958	Q8N8K9	349
PHF14	ZFP64	Q9NTW7	324
PHF14	TXNDC9	O14530	323
PHF14	THSD7A	Q9UPZ6	319
PHF14	CBX8	Q9HC52	314

IntAct

65 interactions, top by confidence:

A	B	Type	Score
H2AZ1	ZNHIT1	psi-mi:“MI:0914”(association)	0.770
HMG20A	KDM1A	psi-mi:“MI:0914”(association)	0.730
H2AX	PPM1G	psi-mi:“MI:0914”(association)	0.730
H2BC1	PPM1G	psi-mi:“MI:0914”(association)	0.640
H2AC18	PPM1G	psi-mi:“MI:0914”(association)	0.530
DAXX	TNRC18	psi-mi:“MI:0914”(association)	0.530
PHF14	KIF4A	psi-mi:“MI:0915”(physical association)	0.460
KIF4A	PHF14	psi-mi:“MI:0915”(physical association)	0.460
KIF4A	PHF14	psi-mi:“MI:0403”(colocalization)	0.460
PHF14	PCBD2	psi-mi:“MI:0915”(physical association)	0.370
	PHF14	psi-mi:“MI:0915”(physical association)	0.370
CDK2AP1	MTA3	psi-mi:“MI:0914”(association)	0.350
TCF20	MTA3	psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350
Mta1	MTA3	psi-mi:“MI:0914”(association)	0.350
WRAP73	AKAP8	psi-mi:“MI:0914”(association)	0.350
CCND1	PHF14	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
HMG20A	KDM1A	psi-mi:“MI:0914”(association)	0.350

BioGRID (114): PHF14 (Affinity Capture-RNA), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS), PHF14 (Affinity Capture-MS)

ESM2 similar proteins: A0A1I8M2I8, A8WT19, B3MJ69, B3N3F7, B4H732, B4II37, B4J497, B4KLY7, B4LIK8, B4MR46, B4NYV0, B4QCR6, O15042, O94880, P0CM96, P0CM97, P0DP78, P0DP79, P0DP80, P0DP81, Q08C72, Q08DZ2, Q13523, Q17336, Q20448, Q24168, Q28WQ8, Q4PCY0, Q4WKB9, Q52B63, Q52KN9, Q5R7X2, Q5R814, Q5RA93, Q5RKH1, Q5TUF1, Q5ZKA3, Q61136, Q6C8C5, Q6DE96

Diamond homologs: A0A286Y9D1, A1YVX4, A7E320, B2KF05, B2RRD7, B6CHA3, F4KBP5, F6UA42, G5E8P1, G5EBZ4, O54826, O75164, O94880, O94953, P0CB22, P29375, P34447, P41229, P41230, P47156, P55197, P55198, P55201, Q0P4S5, Q12311, Q20318, Q22516, Q29EQ3, Q30DN6, Q38JA7, Q3UXZ9, Q5E9T7, Q5RD88, Q5TKR9, Q62240, Q6GQJ2, Q6IE81, Q6IE82, Q6IQX0, Q6K431

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 73 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
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	5	40.5×	8e-06
NuRD complex assembly	9	27.0×	2e-08
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	8	25.9×	6e-08
Interaction of NuRD complexes with transcription factors	9	24.3×	2e-08
HDACs deacetylate histones	9	23.0×	2e-08
Negative Regulation of CDH1 Gene Transcription	9	23.0×	2e-08
Regulation of PTEN gene transcription	6	22.8×	1e-05
Deposition of new CENPA-containing nucleosomes at the centromere	6	20.2×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
heterochromatin formation	8	31.4×	1e-07
RNA processing	5	16.8×	9e-04
nucleosome assembly	7	15.1×	7e-05
chromatin organization	7	10.7×	4e-04
chromatin remodeling	9	10.1×	5e-05
DNA damage response	7	5.8×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	82
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4136 predictions. Top by Δscore:

Variant	Effect	Δscore
7:10974325:G:GG	donor_gain	1.0000
7:10974830:CACA:C	acceptor_loss	1.0000
7:10974831:ACAGT:A	acceptor_gain	1.0000
7:10974832:C:G	acceptor_gain	1.0000
7:10974833:A:AG	acceptor_gain	1.0000
7:10974833:AGT:A	acceptor_gain	1.0000
7:10974833:AGTG:A	acceptor_gain	1.0000
7:10974834:G:GA	acceptor_gain	1.0000
7:10974834:GT:G	acceptor_gain	1.0000
7:10974834:GTG:G	acceptor_gain	1.0000
7:10974834:GTGG:G	acceptor_gain	1.0000
7:10974942:TCAGG:T	donor_loss	1.0000
7:10974943:CAGG:C	donor_loss	1.0000
7:10974944:AGGT:A	donor_loss	1.0000
7:10974945:GGTA:G	donor_loss	1.0000
7:10974946:G:GG	donor_gain	1.0000
7:10974946:GTA:G	donor_loss	1.0000
7:10974947:T:G	donor_loss	1.0000
7:10982360:T:G	acceptor_gain	1.0000
7:10982361:A:AG	acceptor_gain	1.0000
7:10982362:T:G	acceptor_gain	1.0000
7:10982370:A:AG	acceptor_gain	1.0000
7:10982371:G:GG	acceptor_gain	1.0000
7:10990699:TTAGG:T	acceptor_loss	1.0000
7:10990701:A:AG	acceptor_gain	1.0000
7:10990701:AGGAC:A	acceptor_loss	1.0000
7:10990702:G:GG	acceptor_gain	1.0000
7:10990843:TGAAG:T	donor_loss	1.0000
7:10990845:AAG:A	donor_loss	1.0000
7:10990847:GGTAA:G	donor_loss	1.0000

AlphaMissense

6332 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:10990766:T:A	C322S	1.000
7:10990766:T:C	C322R	1.000
7:10990767:G:A	C322Y	1.000
7:10990767:G:C	C322S	1.000
7:10990767:G:T	C322F	1.000
7:10990768:C:G	C322W	1.000
7:10990773:T:A	V324D	1.000
7:10990775:T:A	C325S	1.000
7:10990775:T:C	C325R	1.000
7:10990775:T:G	C325G	1.000
7:10990776:G:A	C325Y	1.000
7:10990776:G:C	C325S	1.000
7:10990776:G:T	C325F	1.000
7:10990777:T:G	C325W	1.000
7:10990779:T:C	L326P	1.000
7:10990790:A:C	S330R	1.000
7:10990792:T:A	S330R	1.000
7:10990792:T:G	S330R	1.000
7:10990806:A:T	E335V	1.000
7:10990809:T:A	I336K	1.000
7:10990809:T:C	I336T	1.000
7:10990809:T:G	I336R	1.000
7:10990812:T:A	I337N	1.000
7:10990812:T:G	I337S	1.000
7:10990817:T:A	C339S	1.000
7:10990817:T:C	C339R	1.000
7:10990818:G:A	C339Y	1.000
7:10990818:G:C	C339S	1.000
7:10990818:G:T	C339F	1.000
7:10990819:T:G	C339W	1.000

dbSNP variants (sampled 300 via entrez): RS1000001124 (7:10994497 G>A), RS1000018324 (7:11119506 G>A), RS1000038310 (7:11063264 T>G), RS1000059116 (7:11003778 A>G), RS1000066644 (7:11013561 G>A), RS1000070129 (7:11131669 A>C), RS1000081208 (7:11096761 C>T), RS1000088395 (7:11038904 G>A,C), RS1000089533 (7:11037857 A>C,G), RS1000097077 (7:10994258 T>C), RS1000097667 (7:11075142 T>C), RS1000162092 (7:11095059 C>T), RS1000175839 (7:11136159 T>G), RS1000179235 (7:11094709 A>G), RS1000185328 (7:11080957 T>A)

Disease associations

OMIM: gene MIM:619907 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007508_4	Self-reported childhood asthma in adult smokers	5.000000e-07
GCST009391_678	Metabolite levels	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010506	kynurenic acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

43 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
Acetaminophen	decreases expression	3
bisphenol A	affects methylation, affects cotreatment, increases expression	2
trichostatin A	increases expression, affects expression, decreases expression	2
sodium arsenite	affects methylation, decreases expression	2
Resveratrol	increases expression, increases phosphorylation, affects cotreatment	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
bufotalin	increases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases abundance, affects cotreatment, decreases expression	1
cobaltous chloride	affects expression, decreases expression	1
coumarin	affects phosphorylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
abrine	decreases expression	1
NSC 689534	decreases expression	1
Temozolomide	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benztropine	affects cotreatment, decreases expression	1
Caffeine	affects phosphorylation	1
Clorgyline	increases expression	1
Clozapine	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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