KLK10

Summary

KLK10 (kallikrein related peptidase 10, HGNC:6358) is a protein-coding gene on chromosome 19q13.41, encoding Kallikrein-10 (O43240). Has a tumor-suppressor role for NES1 in breast and prostate cancer.

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein.

Source: NCBI Gene 5655 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 68 total
• MANE Select transcript: NM_145888

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6358
Approved symbol	KLK10
Name	kallikrein related peptidase 10
Location	19q13.41
Locus type	gene with protein product
Status	Approved
Aliases	NES1
Ensembl gene	ENSG00000129451
Ensembl biotype	protein_coding
OMIM	602673
Entrez	5655

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000309958, ENST00000358789, ENST00000391805, ENST00000599077, ENST00000599987, ENST00000601467, ENST00000874492, ENST00000874493, ENST00000874494, ENST00000874495, ENST00000874496, ENST00000874497, ENST00000874498, ENST00000874499

RefSeq mRNA: 3 — MANE Select: NM_145888 NM_001077500, NM_002776, NM_145888

CCDS: CCDS12817

Canonical transcript exons

ENST00000358789 — 6 exons

Exon	Start	End
ENSE00001509787	51019043	51019139
ENSE00001509788	51019627	51019709
ENSE00003198131	51012739	51014952
ENSE00003472844	51015882	51016156
ENSE00003547838	51015417	51015550
ENSE00003683388	51017110	51017290

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 99.46.

FANTOM5 (CAGE): breadth broad, TPM avg 7.8886 / max 792.2272, expressed in 462 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182340	6.9540	304
182333	0.3668	195
182342	0.1269	59
182346	0.0643	30
182344	0.0632	27
182332	0.0469	21
182336	0.0362	12
182341	0.0359	21
182343	0.0307	15
182338	0.0275	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.46	gold quality
gingiva	UBERON:0001828	98.69	gold quality
gingival epithelium	UBERON:0001949	98.45	gold quality
esophagus mucosa	UBERON:0002469	98.04	gold quality
penis	UBERON:0000989	97.20	gold quality
pharyngeal mucosa	UBERON:0000355	97.16	gold quality
tongue squamous epithelium	UBERON:0006919	97.12	gold quality
oral cavity	UBERON:0000167	96.77	gold quality
mammalian vulva	UBERON:0000997	96.70	gold quality
epithelium of esophagus	UBERON:0001976	95.49	gold quality
upper arm skin	UBERON:0004263	95.44	gold quality
esophagus squamous epithelium	UBERON:0006920	95.36	gold quality
body of tongue	UBERON:0011876	93.94	gold quality
squamous epithelium	UBERON:0006914	93.59	gold quality
skin of abdomen	UBERON:0001416	91.97	gold quality
skin of leg	UBERON:0001511	91.39	gold quality
cervix epithelium	UBERON:0004801	91.16	gold quality
zone of skin	UBERON:0000014	90.95	gold quality
right uterine tube	UBERON:0001302	90.32	gold quality
upper leg skin	UBERON:0004262	90.18	gold quality
vagina	UBERON:0000996	88.82	gold quality
tongue	UBERON:0001723	87.76	gold quality
mouth mucosa	UBERON:0003729	87.17	gold quality
nipple	UBERON:0002030	87.15	gold quality
amniotic fluid	UBERON:0000173	87.12	gold quality
nasal cavity epithelium	UBERON:0005384	86.77	gold quality
minor salivary gland	UBERON:0001830	85.53	gold quality
epithelium of bronchus	UBERON:0002031	85.16	gold quality
left ovary	UBERON:0002119	85.09	gold quality
bronchus	UBERON:0002185	84.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.59

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MBD2, MYC

miRNA regulators (miRDB)

71 targeting KLK10, 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-4534	99.99	66.58	1907
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-4441	99.49	66.56	3216

Literature-anchored findings (GeneRIF, showing 40)

• NES1/kallikrein 10 mRNA is expressed in normal breast tissue and benign lesions, with loss of NES1/kallikrein 10 expression during tumor progression. (PMID:11705853)
• Identification of single nucleotide polymorphisms in the human kallikrein 10 (KLK10) gene and their association with prostate, breast, testicular, and ovarian cancers. (PMID:11920956)
• Higher expression in breast cancer predicts tamoxifen resistance (PMID:12087468)
• kallikrein 10 is expressed in the nonmalignant and malignant prostate, with cancer tissues demonstrating slightly lower expression (PMID:12970725)
• Downregulation of kallikrein 10 is associated with breast cancer (PMID:14696124)
• Kallikrein K10 is decreased in cerebrospinal fluid (CSF) of frontotemporal dementia patients and K10 is increased in CSF of Alzheimer patients, compared to control subjects. (PMID:14972646)
• new splice variants of the KLK10 gene identified; in silico analyses show differential expression of gene in various malignancies and provide basis for directing experimental efforts to investigate possible role of gene as cancer biomarker (PMID:16103744)
• CpG island hypermethylation plays an important role in the downregulation of kallikrein 10 mRNA and protein expression (PMID:16254462)
• Kallikrein 10 is highly expressed in uterine serous papillary carcinoma, and it is released in the plasma and serum of uterine serous papillary carcinoma patients. (PMID:16647913)
• REVIEW of KLK10 gene expression in neoplasm cells (PMID:16800732)
• functional importance of retinoic acid response elements in the hK10 promoter was demonstrated by retinoid induction of hk10 promoter-reporters (PMID:16800735)
• results suggest a co-regulation of KLK10 and KLK11 expression in lung and a lack of KLK10 suppressor role in non-small-cell lung cancer (PMID:16800740)
• KLK10 expression is up-regulated in CRC and GC and higher expression of KLK10 closely correlates with advanced disease stage, which predicts a poorer prognosis. (PMID:16928223)
• Results suggest that NES1 inactivation might contribute to the malignant progression of human gastric cancers. (PMID:17182177)
• Glucocorticoid receptor-mediated expression of kallikrein 10 (PMID:17937626)
• The hormone-specific upregulation of PSA, KLK10 and KLK11 in the breast cancer cell line T47D is dependent on major intracellular signaling pathways. (PMID:18515984)
• Co-expression of KLK6 and KLK10 as prognostic factors for survival in pancreatic ductal adenocarcinoma. (PMID:18854834)
• Suppression of gastric cancer growth by baculovirus vector-mediated transfer of normal epithelial cell specific-1 gene. (PMID:18855978)
• kallikreins 5, 7, 8, and 10 are abundantly expressed in human OSCC and may be implicated in malignant progression (PMID:19085836)
• synergistic effects between estrogens and androgens on estrogen-sensitive genes may have implications on the role of the kallikreins 10, 11, and 14 in associated risk of breast cancer and progression. (PMID:19383315)
• Combination of KLK2, 3, 13, and 14 and KLK1, 2, 5, 6, 7, 8, 10, 13, and 14 showed very strong discriminatory potential for semen liquefaction and viscosity, respectively. (PMID:19558318)
• Data show that it was unable to distinguish men with and without prostate cancer using multiple kallikreins as urinary biomarkers. (PMID:19560453)
• Down-Regulation of KLK10 through DNA Methylation is associated with hepatocellular carcinoma. (PMID:19760608)
• Results indicate that cells underwent EMT exhibited overactive TGFbeta signaling and loss of expression of the CDH1, CGN, CLDN4, and KLK10 genes as a result of hypermethylation of their corresponding promoter regions. (PMID:20086175)
• upregulated in late stage epithelial ovarian cancer (PMID:20680316)
• Single nucleotide polymorphisms in KLK10 is not associated with ovarian cancer. (PMID:20686372)
• KLK10 gene expression may be used as a marker of unfavorable prognosis for colorectal cancer (PMID:21487810)
• Loss of KLK10 is associated with ovarian cancer. (PMID:22102857)
• Data indicate a statistically significant positive association between kallikrein-related peptidase 10 (KLK10) and tumor stage and liver metastases. (PMID:22437349)
• KLK10 DNA methylation was significantly associated with prostate cancer. (PMID:22874102)
• Finding lower KLK10 levels in pleomorphic adenoma suggests aberrant expression in a tumour that develops primarily from myoepithelial cells. A kallikrein cascade may play a role in the development and/or outcome of some salivary gland tumours. (PMID:23250777)
• Enhancing KLK10 gene expression can decrease the proliferation and invasiveness of human tongue cancer cells in vitro. (PMID:23268413)
• is the first correlation of oral squamous cell carcinoma with KLK10 rs3745535G>T polymorphisms (PMID:23413953)
• Patients with high KLK10 expression had a shorter disease-free and overall survival rates. (PMID:23499583)
• KLK10 expression is an independent biomarker of unfavorable prognosis in patients with gastric cancer. (PMID:24409072)
• This study assessed the prognostic utility of human tissue kallikrein-like peptidases 6 and 10 (KLK6 and KLK10) and correlated their expression with histopathological and clinical parameters in gastric cancer. (PMID:25153389)
• Immunoexpression of KLK10 in the ACTH-secreting tumors as well as in the Crooke cell tumors was significantly increased when compared with the nonfunctioning tumors and in the corticotrophs of non-tumorous pituitaries. (PMID:25517869)
• treated and untreated prolactin-producing pituitary adenomas and carcinomas as well as TSH-producing pituitary adenomas and carcinomas were conclusively immunopositive for KLK10 (PMID:25553760)
• KLK6 and KLK10 may be useful markers and potential therapeutic targets in gastroesophageal junction tumors (PMID:25649006)
• Data indicate that elevated expression of microRNA-375 in head and neck squamous cell carcinoma (HNSCC) cells significantly reduces kallikrein 6 (KLK6), kallikrein 10 (KLK10), and matrix metalloproteinase 9 (MMP9) messenger RNA expression. (PMID:26172508)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	f9a	ENSDARG00000010097
danio_rerio	habp2	ENSDARG00000057498
mus_musculus	Klk10	ENSMUSG00000030693
rattus_norvegicus	Klk10	ENSRNOG00000030281
drosophila_melanogaster	CG31266	FBGN0051266
drosophila_melanogaster	CG31267	FBGN0051267

Paralogs (16): F7 (ENSG00000057593), F11 (ENSG00000088926), F9 (ENSG00000101981), HGFAC (ENSG00000109758), F10 (ENSG00000126218), F12 (ENSG00000131187), C1RL (ENSG00000139178), C1R (ENSG00000159403), KLKB1 (ENSG00000164344), C1S (ENSG00000182326), PRSS55 (ENSG00000184647), CFD (ENSG00000197766), CFI (ENSG00000205403), PRSS51 (ENSG00000253649), HP (ENSG00000257017), HPR (ENSG00000261701)

Protein

Protein identifiers

Kallikrein-10 — O43240 (reviewed: O43240)

Alternative names: Normal epithelial cell-specific 1, Protease serine-like 1

All UniProt accessions (3): O43240, M0R132, M0R2S4

UniProt curated annotations — full annotation on UniProt →

Function. Has a tumor-suppressor role for NES1 in breast and prostate cancer.

Subcellular location. Secreted.

Tissue specificity. Expressed in breast, ovary and prostate.

Similarity. Belongs to the peptidase S1 family. Kallikrein subfamily.

RefSeq proteins (3): NP_001070968, NP_002767, NP_665895* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001254	Trypsin_dom	Domain
IPR001314	Peptidase_S1A	Family
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR018114	TRYPSIN_HIS	Active_site
IPR043504

Pfam: PF00089

Enzyme classification (BRENDA):

• EC 3.4.21.B41 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

UniProt features (36 total): strand 15, disulfide bond 6, helix 5, active site 3, sequence variant 2, signal peptide 1, chain 1, domain 1, turn 1, glycosylation site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5LPE	X-RAY DIFFRACTION	2.65
5LPF	X-RAY DIFFRACTION	2.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43240-F1	80.55	0.50

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): 86 (charge relay system); 137 (charge relay system); 229 (charge relay system)

Disulfide bonds (6): 201–215, 225–250, 0–263, 52–162, 71–87, 169–235

Glycosylation sites (1): 39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 143 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, MODULE_172, AGGAAGC_MIR5163P, JAEGER_METASTASIS_DN, GOCC_SECRETORY_GRANULE, ENK_UV_RESPONSE_KERATINOCYTE_UP, CHANDRAN_METASTASIS_DN, ONDER_CDH1_TARGETS_3_DN, GOBP_PROTEIN_MATURATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, MARTINEZ_RB1_TARGETS_DN, MODULE_109, TGTGTGA_MIR377

GO Biological Process (2): proteolysis (GO:0006508), protein maturation (GO:0051604)

GO Molecular Function (4): serine-type endopeptidase activity (GO:0004252), serine-type peptidase activity (GO:0008236), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), secretory granule (GO:0030141)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein metabolic process	2
gene expression	1
endopeptidase activity	1
serine-type peptidase activity	1
peptidase activity	1
serine hydrolase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
cellular anatomical structure	1
endomembrane system	1
secretory vesicle	1

Protein interactions and networks

STRING

1298 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KLK10	XPO1	O14980	725
KLK10	CHD3	Q12873	704
KLK10	KLK1	P06870	503
KLK10	COL17A1	Q9UMD9	451
KLK10	ZFYVE9	O95405	439
KLK10	SLC25A45	Q8N413	439
KLK10	CES3	Q6UWW8	433
KLK10	DPY30	Q9C005	433
KLK10	SERPINB5	P36952	426
KLK10	CEP55	Q53EZ4	424
KLK10	SPRR3	Q9UBC9	415
KLK10	TPD52L2	O43399	404
KLK10	SCGB3A2	Q96PL1	400
KLK10	PSAT1	Q9Y617	400
KLK10	LAMC2	Q13753	393

IntAct

68 interactions, top by confidence:

A	B	Type	Score
CCNC	MED19	psi-mi:“MI:0914”(association)	0.640
RPL18	RRP8	psi-mi:“MI:0914”(association)	0.640
FTH1	A2ML1	psi-mi:“MI:0914”(association)	0.530
GMCL1	A2ML1	psi-mi:“MI:0914”(association)	0.530
UGT1A10	A2ML1	psi-mi:“MI:0914”(association)	0.530
TBC1D22B	A2ML1	psi-mi:“MI:0914”(association)	0.530
DNAAF19	KLK10	psi-mi:“MI:0914”(association)	0.530
KLK10	EDC3	psi-mi:“MI:0914”(association)	0.530
KLK10	LRG1	psi-mi:“MI:0403”(colocalization)	0.490
KLK10	SLC25A13	psi-mi:“MI:0915”(physical association)	0.400
BCAP31	KLK10	psi-mi:“MI:0915”(physical association)	0.370
KLK10	OR6C70	psi-mi:“MI:0914”(association)	0.350
CDK15	A2ML1	psi-mi:“MI:0914”(association)	0.350
L2HGDH	A2ML1	psi-mi:“MI:0914”(association)	0.350
ITGA9	IGLL5	psi-mi:“MI:0914”(association)	0.350
SUSD3	IGLL5	psi-mi:“MI:0914”(association)	0.350
ZSCAN20	ZNF197	psi-mi:“MI:0914”(association)	0.350
FCF1	SULT2B1	psi-mi:“MI:0914”(association)	0.350
TNFRSF19	NOP56	psi-mi:“MI:0914”(association)	0.350
OR13C3	POTEF	psi-mi:“MI:0914”(association)	0.350
STX17	A2ML1	psi-mi:“MI:0914”(association)	0.350
ST6GALNAC6	A2ML1	psi-mi:“MI:0914”(association)	0.350
OR2A4	A2ML1	psi-mi:“MI:0914”(association)	0.350
GOT1	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (196): KLK10 (Affinity Capture-MS), EDC3 (Affinity Capture-MS), OR6C70 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), KLK10 (Affinity Capture-MS)

ESM2 similar proteins: A1L453, A2VE36, A6NIE9, A8MTI9, E5RG02, O43240, O70169, P09582, P50343, P83748, Q14B25, Q14BX2, Q16651, Q3UKY7, Q3V0Q7, Q402U7, Q571E5, Q5FBW1, Q5K2P8, Q5K2P9, Q5M8S2, Q6AXZ6, Q6BEA2, Q6IE62, Q6IE63, Q6UWB4, Q76B45, Q76HL1, Q7RTY3, Q7RTY5, Q7RTY9, Q7Z5A4, Q8BJR6, Q8BLH5, Q8K4I7, Q8VIF2, Q920S2, Q99MS4, Q9BQR3, Q9D9M0

Diamond homologs: A8QL53, A8QL56, A8QL57, E5L0E5, J3SDX0, O43240, O60259, O88780, P00752, P00755, P00756, P00757, P00758, P00759, P00760, P00761, P00762, P00763, P00764, P06870, P06871, P06872, P07146, P07288, P07477, P07478, P07628, P07647, P08426, P09582, P0CG03, P0CJ41, P12323, P12788, P15945, P15946, P15947, P15948, P15949, P16049

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	40
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1004 predictions. Top by Δscore:

Variant	Effect	Δscore
19:51015546:CTTCA:C	acceptor_gain	1.0000
19:51015549:CA:C	acceptor_gain	1.0000
19:51015551:C:CC	acceptor_gain	1.0000
19:51017085:T:TA	donor_gain	1.0000
19:51017108:A:AC	donor_gain	1.0000
19:51017109:C:CC	donor_gain	1.0000
19:51019152:G:GC	acceptor_gain	1.0000
19:51019853:T:TA	donor_gain	1.0000
19:51019917:C:A	donor_gain	1.0000
19:51019934:T:TA	donor_gain	1.0000
19:51014951:CT:C	acceptor_gain	0.9900
19:51015411:CCCTA:C	donor_loss	0.9900
19:51015412:CCTA:C	donor_loss	0.9900
19:51015413:CTAC:C	donor_loss	0.9900
19:51015414:TA:T	donor_loss	0.9900
19:51015415:A:AT	donor_loss	0.9900
19:51015416:C:A	donor_loss	0.9900
19:51015547:TTCA:T	acceptor_gain	0.9900
19:51015547:TTCAC:T	acceptor_loss	0.9900
19:51015548:TCA:T	acceptor_gain	0.9900
19:51015549:CAC:C	acceptor_gain	0.9900
19:51015551:CTG:C	acceptor_loss	0.9900
19:51015837:AGCCC:A	donor_gain	0.9900
19:51015844:T:TA	donor_gain	0.9900
19:51015847:T:TA	donor_gain	0.9900
19:51015984:C:CT	donor_gain	0.9900
19:51015985:T:TT	donor_gain	0.9900
19:51017052:C:A	donor_gain	0.9900
19:51017101:T:TA	donor_gain	0.9900
19:51017142:A:C	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000071205 (19:51016933 G>T), RS1000503355 (19:51016184 C>G,T), RS1001073113 (19:51018541 A>G), RS1001411902 (19:51012616 T>C), RS1001461278 (19:51017536 G>A), RS1001513239 (19:51017223 G>A,T), RS1001660421 (19:51017774 G>A), RS1002516296 (19:51018766 G>A), RS1003295296 (19:51014690 C>T), RS1003526341 (19:51020043 G>A,C), RS1003634249 (19:51014307 C>G), RS1003821397 (19:51014623 G>A,T), RS1003873485 (19:51013771 C>T), RS1004478217 (19:51019212 G>A,T), RS1004824660 (19:51015199 G>A)

Disease associations

OMIM: gene MIM:602673 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_2076	Blood protein levels	4.000000e-54

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, increases expression	2
entinostat	increases expression, affects cotreatment	2
Benzo(a)pyrene	decreases methylation, increases expression, affects methylation	2
Cisplatin	affects cotreatment, affects expression, affects response to substance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Tretinoin	increases expression	2
methylmercuric chloride	decreases expression	1
sodium arsenate	decreases expression, increases abundance	1
terbufos	increases methylation	1
beta-lapachone	increases expression	1
tobacco tar	decreases expression, decreases reaction	1
diallyl disulfide	decreases expression, decreases reaction	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	1
dorsomorphin	affects cotreatment, increases expression, decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
(+)-JQ1 compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Venlafaxine Hydrochloride	decreases expression	1
Zoledronic Acid	increases expression	1
Alitretinoin	increases expression	1
Panobinostat	affects cotreatment, affects expression	1
Arsenic	decreases expression, increases abundance	1
Cadmium	decreases expression	1
Calcitriol	increases expression	1
Fonofos	increases methylation	1
Estradiol	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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