HTRA4

Summary

HTRA4 (HtrA serine peptidase 4, HGNC:26909) is a protein-coding gene on chromosome 8p11.22, encoding Serine protease HTRA4 (P83105). Serine protease.

This gene encodes a member of the HtrA family of proteases. The encoded protein contains a putative signal peptide, an insulin growth factor binding domain, a Kazal protease inhibitor domain, a conserved trypsin domain and a PDZ domain. Based on studies on other related family members, this enzyme may function as a secreted oligomeric chaperone protease to degrade misfolded secretory proteins. Other human HtrA proteins have been implicated in arthritis, tumor suppression, unfolded stress response, apoptosis, and aging.

Source: NCBI Gene 203100 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 75 total
• MANE Select transcript: NM_153692

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26909
Approved symbol	HTRA4
Name	HtrA serine peptidase 4
Location	8p11.22
Locus type	gene with protein product
Status	Approved
Aliases	FLJ90724
Ensembl gene	ENSG00000169495
Ensembl biotype	protein_coding
OMIM	610700
Entrez	203100

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000302495

RefSeq mRNA: 1 — MANE Select: NM_153692 NM_153692

CCDS: CCDS6110

Canonical transcript exons

ENST00000302495 — 9 exons

Exon	Start	End
ENSE00001155396	38982953	38983048
ENSE00001155403	38982498	38982555
ENSE00001155411	38981653	38981767
ENSE00001155417	38979215	38979247
ENSE00001155423	38977953	38978147
ENSE00001155429	38976535	38976739
ENSE00001155435	38975031	38975130
ENSE00001275395	38987936	38988663
ENSE00001275403	38974228	38974729

Expression profiles

Bgee: expression breadth ubiquitous, 120 present calls, max score 98.32.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4603 / max 119.1807, expressed in 106 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88567	0.3000	89
88566	0.0621	30
88565	0.0582	10
88564	0.0399	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	98.32	gold quality
placenta	UBERON:0001987	94.37	gold quality
layer of synovial tissue	UBERON:0007616	86.41	gold quality
endothelial cell	CL:0000115	84.81	gold quality
buccal mucosa cell	CL:0002336	84.16	silver quality
synovial joint	UBERON:0002217	76.19	gold quality
visceral pleura	UBERON:0002401	75.13	gold quality
trabecular bone tissue	UBERON:0002483	74.48	silver quality
bone marrow	UBERON:0002371	66.64	gold quality
amniotic fluid	UBERON:0000173	66.35	silver quality
parietal pleura	UBERON:0002400	62.95	silver quality
lymph node	UBERON:0000029	60.10	gold quality
bone marrow cell	CL:0002092	58.56	silver quality
upper lobe of lung	UBERON:0008948	58.56	gold quality
upper lobe of left lung	UBERON:0008952	58.55	gold quality
subcutaneous adipose tissue	UBERON:0002190	56.40	gold quality
spleen	UBERON:0002106	55.85	gold quality
lung	UBERON:0002048	54.74	gold quality
tendon of biceps brachii	UBERON:0008188	54.53	gold quality
right lung	UBERON:0002167	54.08	gold quality
colonic epithelium	UBERON:0000397	52.89	silver quality
left adrenal gland	UBERON:0001234	52.72	gold quality
leukocyte	CL:0000738	52.69	gold quality
left adrenal gland cortex	UBERON:0035825	52.54	gold quality
monocyte	CL:0000576	52.53	gold quality
smooth muscle tissue	UBERON:0001135	52.08	gold quality
pigmented layer of retina	UBERON:0001782	51.81	silver quality
granulocyte	CL:0000094	51.30	silver quality
stromal cell of endometrium	CL:0002255	51.30	silver quality
endocervix	UBERON:0000458	51.21	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	82.59
E-ANND-3	no	3.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting HTRA4, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-1206	99.30	69.32	1016
HSA-MIR-3940-5P	99.14	65.26	493
HSA-MIR-4507	99.14	65.27	515
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-4659A-5P	98.03	66.42	819
HSA-MIR-5087	98.01	69.09	965
HSA-MIR-6765-3P	97.83	64.59	1165

Literature-anchored findings (GeneRIF, showing 18)

• FLJ90724 or HTRA4 is a member of the HtrA family of proteases (PMID:12408815)
• study reveals a novel function of GCM1 and HtrA4 in regulation of trophoblast invasion and that abnormal HrtA4 expression may contribute to shallow trophoblast invasion in preeclampsia (PMID:22778138)
• Data suggest that increased HtrA4 (and HtrA1) in placenta tissues may be involved in onset of pre-eclampsia; elevated level of HtrA4 (but not HtrA1) in sera has potential as biomarker for pre-eclampsia. (PMID:22964307)
• Conditioned media from these two cell lines after decidualization treatment suppress HtrA4-expressing JAR cell invasion in an HtrA1- or HtrA3-dependent manner. (PMID:25002585)
• HtrA4 represents a novel placenta-specific serine protease that is altered specifically in early-onset preeclampsia with potential causal roles in endothelial dysfunction and disease development. (PMID:25946029)
• GATA3 knockdown elevated HtrA4 expression in BeWo and JEG-3 trophoblast cell lines and enhanced the invasion activities of both lines. This study uncovered a new GATA3 function in placenta as a negative regulator of GCM1 activity and trophoblastic invasion. (PMID:26899996)
• The HtrA1-PDZ and HtrA4-PDZ as well as HtrA2-PDZ and HtrA3-PDZ respond similarly to different halogen substitutions of peptide; -Br substitution at R2-position and -I substitution at R4-position are most effective in improving peptide selectivity for HtrA1-PDZ/HtrA4-PDZ and HtrA2-PDZ/HtrA3-PDZ, respectively; -F substitution would not address substantial effect on peptide selectivity for all the 4 domains (PMID:29266444)
• the aberrant expression of HTRA1 or HTRA4 may be involved in the onset of preeclampsia, and increased HTRA1 or HTRA4 expression may affect trophoblast functions. (PMID:30015931)
• concentrations found in preeclampsia cleaved VE-cadherin in HUVECs as an endothelial model, disrupted cell-cell connections and induced intercellular gaps (PMID:30638949)
• HtrA4 may play a major role in inhibiting endothelial repair in pregnancy complication preeclampsia. (PMID:30804477)
• Discerning the mechanism of action of HtrA4: a serine protease implicated in the cell death pathway. (PMID:31036715)
• New insight into the mechanism of the HtrA4 protease function in cell death and oncogenesis; they may help to develop new anti-cancer therapeutic strategies. (PMID:31546993)
• Elevated circulating HtrA4 in preeclampsia may alter endothelial expression of senescence genes. (PMID:32056555)
• HtrA4 is up-regulated during trophoblast syncytialization and BeWo cells fail to syncytialize without HtrA4. (PMID:34257367)
• Cellular Functions of High-Temperature Requirement Factor A4 in Placenta. (PMID:37296580)
• Deficiency of HtrA4 in BeWo cells downregulates angiogenesis through IL-6/JAK/STAT3 signaling. (PMID:37579694)
• HtrA4 is required for human trophoblast stem cell differentiation into syncytiotrophoblast. (PMID:38325051)
• Identification of HTRA4 as a Transcriptional Target of p63 in Trophoblast. (PMID:38880601)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	htra4	ENSDARG00000005943
mus_musculus	Htra4	ENSMUSG00000037406
rattus_norvegicus	Htra4	ENSRNOG00000061160

Paralogs (3): HTRA2 (ENSG00000115317), HTRA1 (ENSG00000166033), HTRA3 (ENSG00000170801)

Protein

Protein identifiers

Serine protease HTRA4 — P83105 (reviewed: P83105)

Alternative names: High-temperature requirement factor A4

All UniProt accessions (1): P83105

UniProt curated annotations — full annotation on UniProt →

Function. Serine protease.

Subcellular location. Secreted.

Similarity. Belongs to the peptidase S1C family.

RefSeq proteins (1): NP_710159* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000867	IGFBP-like	Domain
IPR001478	PDZ	Domain
IPR001940	Peptidase_S1C	Family
IPR002350	Kazal_dom	Domain
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily
IPR036058	Kazal_dom_sf	Homologous_superfamily

Pfam: PF00219, PF07648, PF13180, PF13365

Enzyme classification (BRENDA):

• EC 3.4.21.107 — peptidase Do (BRENDA: 41 organisms, 234 substrates, 57 inhibitors, 4 Km, 2 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
BETA-CASEIN	0.0013	1
CSP-1 FRET PEPTIDE	—	1
L-ALA(MCA)IRRVSYSF-ANB-NH2	0.0002	1
SUCCINYL-LEU-LEU-VAL-TYR-4-METHYLCOUMARIN 7-AMID	0.0346	1

UniProt features (18 total): disulfide bond 8, domain 3, active site 3, signal peptide 1, chain 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P83105-F1	82.36	0.46

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 (3): 218 (charge relay system); 248 (charge relay system); 326 (charge relay system)

Disulfide bonds (8): 44–68, 49–69, 55–72, 80–94, 88–106, 108–127, 116–152, 40–66

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 71 (showing top): GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA_STIMULUS, GOBP_RESPONSE_TO_GROWTH_FACTOR, GOBP_TRANSFORMING_GROWTH_FACTOR_BETA_RECEPTOR_SIGNALING_PATHWAY, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, TGGAAA_NFAT_Q4_01, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, GOBP_ENZYME_LINKED_RECEPTOR_PROTEIN_SIGNALING_PATHWAY, MIR6844

GO Biological Process (4): proteolysis (GO:0006508), programmed cell death (GO:0012501), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), positive regulation of apoptotic process (GO:0043065)

GO Molecular Function (7): endopeptidase activity (GO:0004175), serine-type endopeptidase activity (GO:0004252), identical protein binding (GO:0042802), protein binding (GO:0005515), peptidase activity (GO:0008233), serine-type peptidase activity (GO:0008236), hydrolase activity (GO:0016787)

GO Cellular Component (1): extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
peptidase activity	2
protein metabolic process	1
signal transduction	1
cell death	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
endopeptidase activity	1
serine-type peptidase activity	1
protein binding	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
serine hydrolase activity	1
catalytic activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2076 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HTRA4	PRSS58	Q8IYP2	769
HTRA4	PRSS1	P07477	704
HTRA4	PLEKHA2	Q9HB19	544
HTRA4	INS	P01308	484
HTRA4	TM2D2	Q9BX73	483
HTRA4	PAPPA2	Q9BXP8	447
HTRA4	ARMS2	P0C7Q2	432
HTRA4	IGF1	P01343	398
HTRA4	PLPP5	Q8NEB5	389
HTRA4	ADAM32	Q8TC27	388
HTRA4	TACC1	O75410	377
HTRA4	TM4SF19	Q96DZ7	371
HTRA4	GCM1	Q9NP62	370
HTRA4	TLDC2	A0PJX2	369
HTRA4	DDHD2	O94830	369

IntAct

405 interactions, top by confidence:

A	B	Type	Score
HTRA4	XIAP	psi-mi:“MI:0570”(protein cleavage)	0.760
HTRA4	XIAP	psi-mi:“MI:0407”(direct interaction)	0.760
HTRA4	XIAP	psi-mi:“MI:0403”(colocalization)	0.760
HTRA4	XIAP	psi-mi:“MI:2364”(proximity)	0.760
XIAP	HTRA4	psi-mi:“MI:0194”(cleavage reaction)	0.760
HTRA4	HTRA4	psi-mi:“MI:0570”(protein cleavage)	0.720
HTRA4	HTRA4	psi-mi:“MI:0915”(physical association)	0.720
HTRA4	HTRA4	psi-mi:“MI:0407”(direct interaction)	0.720
HTRA4	CSN2	psi-mi:“MI:0915”(physical association)	0.680
HTRA4	CSN2	psi-mi:“MI:0570”(protein cleavage)	0.680
CSN2	HTRA4	psi-mi:“MI:0194”(cleavage reaction)	0.680
HTRA4	TCP1	psi-mi:“MI:0407”(direct interaction)	0.620
HTRA4	TCP1	psi-mi:“MI:0403”(colocalization)	0.620
HTRA4	CASP7	psi-mi:“MI:0403”(colocalization)	0.620
HTRA4	CASP7	psi-mi:“MI:2364”(proximity)	0.620
HTRA4	TCP1	psi-mi:“MI:2364”(proximity)	0.620
CASP7	HTRA4	psi-mi:“MI:0194”(cleavage reaction)	0.620
HTRA4	CASP9	psi-mi:“MI:0403”(colocalization)	0.550
HTRA4	CASP9	psi-mi:“MI:2364”(proximity)	0.550
HTRA4	HTRA3	psi-mi:“MI:0915”(physical association)	0.540
HTRA4	HTRA1	psi-mi:“MI:0915”(physical association)	0.540
HTRA3	HTRA4	psi-mi:“MI:0915”(physical association)	0.540
HTRA4	HTRA1	psi-mi:“MI:0570”(protein cleavage)	0.540
HTRA4	HTRA3	psi-mi:“MI:0570”(protein cleavage)	0.540

BioGRID (199): OTUD4 (Affinity Capture-MS), TTC28 (Affinity Capture-MS), ZC3H4 (Affinity Capture-MS), CPSF4 (Affinity Capture-MS), RBPMS (Affinity Capture-MS), C2orf44 (Affinity Capture-MS), RBMS1 (Affinity Capture-MS), WDR26 (Affinity Capture-MS), EIF4E2 (Affinity Capture-MS), HTRA4 (Two-hybrid), HTRA4 (Affinity Capture-MS), HTRA4 (Reconstituted Complex), XIAP (Biochemical Activity), CSN2 (Biochemical Activity), CSN2 (Co-fractionation)

ESM2 similar proteins: A0JNK3, A2RT60, A4IHA1, A6YFB5, A9JRB3, B3LVG7, B3P3J9, B4G316, B4HEM8, B4JTT7, B4K835, B4LY58, B4N937, B4PST0, B4QZU6, D3ZA76, D3ZKF5, E1BJW1, F1N152, F4J3G5, O22609, O23614, O43464, P14543, P38935, P73940, P83105, P83110, Q14689, Q14703, Q297U2, Q3U213, Q5SNQ7, Q5XIL0, Q6GMI0, Q852K0, Q8BMS2, Q8IUL8, Q8IZJ1, Q91XF4

Diamond homologs: A0JNK3, A2RNT9, A2RT60, A4IHA1, A4XSC0, A5W8F5, A6VUA4, A6YFB5, A9JRB3, B0KV30, B1J4D7, B3LVG7, B3P3J9, B4G316, B4HEM8, B4JTT7, B4K835, B4LY58, B4N937, B4PST0, B4QZU6, D0ZY51, D3ZA76, D3ZKF5, E1BJW1, E1V4H2, F1N152, F6AA62, O05942, O06291, O22609, O34358, O43464, O53896, O85291, P05676, P0A3Z5, P0AEE3, P0AEE4, P0C0V0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 168 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
Tight junction interactions	6	19.4×	3e-04
Neurexins and neuroligins	7	12.1×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
calcium-independent cell-cell adhesion	5	25.9×	5e-04
positive regulation of synaptic transmission, glutamatergic	5	20.1×	1e-03
bicellular tight junction assembly	7	14.9×	5e-04
cell-cell adhesion mediated by cadherin	5	13.3×	5e-03
modulation of chemical synaptic transmission	7	8.3×	4e-03
cell-cell adhesion	9	5.9×	4e-03
protein-containing complex assembly	8	5.9×	7e-03
Wnt signaling pathway	9	5.8×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	65
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1697 predictions. Top by Δscore:

Variant	Effect	Δscore
8:38976736:AAATG:A	donor_loss	1.0000
8:38976737:AATG:A	donor_loss	1.0000
8:38976738:ATGTG:A	donor_loss	1.0000
8:38976739:TGTG:T	donor_loss	1.0000
8:38976740:GTGA:G	donor_loss	1.0000
8:38976741:T:TG	donor_loss	1.0000
8:38976742:GAG:G	donor_loss	1.0000
8:38977940:T:A	acceptor_gain	1.0000
8:38977941:G:A	acceptor_gain	1.0000
8:38977948:TGCAG:T	acceptor_loss	1.0000
8:38977949:GCAGG:G	acceptor_loss	1.0000
8:38977950:CAGGC:C	acceptor_loss	1.0000
8:38977951:A:AG	acceptor_gain	1.0000
8:38977951:A:AT	acceptor_loss	1.0000
8:38977951:AG:A	acceptor_gain	1.0000
8:38977951:AGGCT:A	acceptor_gain	1.0000
8:38977952:G:GG	acceptor_gain	1.0000
8:38977952:GG:G	acceptor_gain	1.0000
8:38977952:GGCT:G	acceptor_gain	1.0000
8:38977952:GGCTG:G	acceptor_gain	1.0000
8:38978145:AATGT:A	donor_loss	1.0000
8:38978147:TG:T	donor_loss	1.0000
8:38978148:G:GG	donor_gain	1.0000
8:38979200:A:AG	acceptor_gain	1.0000
8:38979201:A:G	acceptor_gain	1.0000
8:38979213:A:AG	acceptor_gain	1.0000
8:38979213:AGTAT:A	acceptor_gain	1.0000
8:38979214:G:GG	acceptor_gain	1.0000
8:38979214:GTATG:G	acceptor_gain	1.0000
8:38987934:A:AG	acceptor_gain	1.0000

AlphaMissense

3064 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:38976716:G:C	A250P	0.988
8:38978067:A:C	S296R	0.987
8:38978069:C:A	S296R	0.987
8:38978069:C:G	S296R	0.987
8:38976581:T:C	F205L	0.986
8:38976583:C:A	F205L	0.986
8:38976583:C:G	F205L	0.986
8:38987955:G:C	D430H	0.985
8:38981704:T:C	F351L	0.984
8:38981706:T:A	F351L	0.984
8:38981706:T:G	F351L	0.984
8:38979237:T:C	L330P	0.982
8:38987956:A:T	D430V	0.982
8:38978007:T:C	F276L	0.980
8:38978009:T:A	F276L	0.980
8:38978009:T:G	F276L	0.980
8:38976717:C:A	A250E	0.979
8:38979244:C:A	N332K	0.979
8:38979244:C:G	N332K	0.979
8:38976578:G:T	G204W	0.977
8:38987944:T:C	L426S	0.977
8:38987956:A:C	D430A	0.976
8:38978065:T:A	V295D	0.975
8:38987956:A:G	D430G	0.975
8:38979228:G:T	G327V	0.974
8:38983015:T:A	V412E	0.974
8:38976714:T:C	L249P	0.973
8:38979234:C:A	P329H	0.973
8:38979240:T:A	V331E	0.973
8:38981705:T:C	F351S	0.971

dbSNP variants (sampled 300 via entrez): RS1000349657 (8:38979986 T>G), RS1000460634 (8:38973390 G>A), RS1000470868 (8:38979589 T>G), RS1000748323 (8:38973709 T>A), RS1001061892 (8:38984185 G>A), RS1001113734 (8:38984430 C>T), RS1001625722 (8:38981229 G>C), RS1001728507 (8:38987091 G>A), RS1001777715 (8:38987504 T>A,C,G), RS1001812339 (8:38980765 C>A,T), RS1001864607 (8:38985641 T>C), RS1001908006 (8:38981072 T>C,G), RS1001908570 (8:38978582 G>A,C), RS1002135495 (8:38972498 T>A), RS1002984859 (8:38975808 C>T)

Disease associations

OMIM: gene MIM:610700 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression	2
aristolochic acid I	increases expression	1
beta-N-methylamino-L-alanine	increases expression	1
2,4,6-tribromophenol	decreases expression	1
decabromobiphenyl ether	decreases expression	1
arsenic trichloride	decreases expression, increases abundance	1
NCS 382	increases expression	1
fipronil	affects cotreatment, decreases expression	1
hexabrominated diphenyl ether 153	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	increases abundance, affects expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, increases methylation	1
DEET	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Gold	decreases expression	1
Malathion	decreases expression	1
Ozone	affects expression, increases abundance	1
Serine	decreases expression	1
Smoke	decreases expression	1
beta-Naphthoflavone	decreases expression	1

Clinical trials (associated diseases)

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