COL15A1

Summary

COL15A1 (collagen type XV alpha 1 chain, HGNC:2192) is a protein-coding gene on chromosome 9q22.33, encoding Collagen alpha-1(XV) chain (P39059). Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle.

This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration.

Source: NCBI Gene 1306 — RefSeq curated summary.

At a glance

• GWAS associations: 20
• Clinical variants (ClinVar): 341 total
• Druggable target: yes
• MANE Select transcript: NM_001855

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2192
Approved symbol	COL15A1
Name	collagen type XV alpha 1 chain
Location	9q22.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000204291
Ensembl biotype	protein_coding
OMIM	120325
Entrez	1306

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 15 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000375001, ENST00000467052, ENST00000471477, ENST00000496686, ENST00000873219, ENST00000873220, ENST00000873221, ENST00000873222, ENST00000873223, ENST00000873224, ENST00000873225, ENST00000873226, ENST00000873227, ENST00000946047, ENST00000946048, ENST00000946049, ENST00000946050, ENST00000946051

RefSeq mRNA: 1 — MANE Select: NM_001855 NM_001855

CCDS: CCDS35081

Canonical transcript exons

ENST00000375001 — 42 exons

Exon	Start	End
ENSE00001410919	99035014	99035154
ENSE00001465358	99068555	99068670
ENSE00001465360	99066882	99067067
ENSE00001465362	99063050	99063109
ENSE00001465364	99062245	99062304
ENSE00001465365	99061971	99062099
ENSE00001465366	99059889	99059953
ENSE00001465367	99056260	99056404
ENSE00001465369	99055262	99055372
ENSE00001465371	99055102	99055151
ENSE00001465372	99054576	99054656
ENSE00001465374	99052388	99052433
ENSE00001465375	99049854	99049895
ENSE00001465378	99049690	99049758
ENSE00001465380	99047941	99048000
ENSE00001465382	99047786	99047839
ENSE00001465384	99044735	99044770
ENSE00001465387	99044568	99044636
ENSE00001465388	99042045	99042107
ENSE00001465392	99038668	99038733
ENSE00001465395	99036313	99036396
ENSE00001465396	99036170	99036205
ENSE00001465399	99035350	99035418
ENSE00001465402	99034549	99034584
ENSE00001465403	99025904	99025966
ENSE00001465404	99024874	99024999
ENSE00001465405	99023357	99023449
ENSE00001465407	99022091	99022150
ENSE00001465408	99020389	99020442
ENSE00001465409	99015976	99016119
ENSE00001465410	99015417	99015566
ENSE00001465412	99004898	99005050
ENSE00001465415	99003453	99003587
ENSE00001465420	98989178	98989258
ENSE00001465421	98987294	98987368
ENSE00001465423	98985565	98986112
ENSE00001503951	99000839	99000951
ENSE00001503952	98996934	98997081
ENSE00003566650	98943907	98944072
ENSE00003616194	98944162	98944250
ENSE00003633443	99040521	99040556
ENSE00003847174	99069673	99070787

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 98.78.

FANTOM5 (CAGE): breadth broad, TPM avg 8.8397 / max 797.7811, expressed in 597 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
97631	2.9685	404
97632	1.2741	314
97630	1.0529	277
97627	0.7888	204
97623	0.6193	176
97624	0.5850	164
97629	0.3823	170
97626	0.3168	147
97622	0.2007	104
97625	0.1930	97

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of hip	UBERON:0001554	98.78	gold quality
placenta	UBERON:0001987	98.49	gold quality
synovial joint	UBERON:0002217	98.47	gold quality
cardia of stomach	UBERON:0001162	98.41	gold quality
cartilage tissue	UBERON:0002418	98.26	gold quality
heart right ventricle	UBERON:0002080	98.23	gold quality
pericardium	UBERON:0002407	98.06	gold quality
superficial temporal artery	UBERON:0001614	97.80	gold quality
adrenal tissue	UBERON:0018303	97.69	gold quality
saphenous vein	UBERON:0007318	97.67	gold quality
cardiac muscle of right atrium	UBERON:0003379	97.49	gold quality
vena cava	UBERON:0004087	97.46	gold quality
pylorus	UBERON:0001166	96.98	gold quality
myocardium	UBERON:0002349	96.98	gold quality
layer of synovial tissue	UBERON:0007616	96.93	gold quality
right coronary artery	UBERON:0001625	96.73	gold quality
urethra	UBERON:0000057	96.60	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.57	gold quality
mammary duct	UBERON:0001765	96.55	gold quality
blood vessel layer	UBERON:0004797	96.51	gold quality
biceps brachii	UBERON:0001507	96.36	gold quality
colonic epithelium	UBERON:0000397	96.08	gold quality
adult organism	UBERON:0007023	95.80	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.57	gold quality
lower esophagus	UBERON:0013473	95.50	gold quality
subcutaneous adipose tissue	UBERON:0002190	95.47	gold quality
parietal pleura	UBERON:0002400	95.46	gold quality
tendon of biceps brachii	UBERON:0008188	95.46	gold quality
coronary artery	UBERON:0001621	95.44	gold quality
cauda epididymis	UBERON:0004360	95.44	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	1857.27
E-MTAB-8142	yes	568.47
E-ENAD-27	yes	235.08
E-MTAB-6701	yes	62.17
E-CURD-46	yes	28.72
E-MTAB-8410	yes	28.06
E-MTAB-6678	yes	26.73
E-ANND-3	yes	21.63
E-MTAB-5061	yes	12.00
E-GEOD-83139	yes	8.20
E-MTAB-6379	no	52.63
E-CURD-89	no	36.04

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

82 targeting COL15A1, 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-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-9-5P	100.00	72.28	2361
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-12118	100.00	65.88	1270
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-5682	99.89	72.56	1005

Literature-anchored findings (GeneRIF, showing 16)

• type XV and XVIII collagens are expressed in specialized basement membranes. (PMID:11937714)
• Results show that the molecular structure of human tissue type XV presents a unique conformation among the collagens. (PMID:17355226)
• the primary determinant is the gene specifying collagen XV, a proteoglycan closely associated with the basement membrane (PMID:18171981)
• Polymorphisms in COL15 (collagen XV) gene are not associated with systemic sclerosis (PMID:18203317)
• Data represent the first evidence of the expression of collagen type XV in human osteoblasts, a calcium-regulated protein which correlates to a specific functional state of these cells. (PMID:19365806)
• the crystal structure of the trimerization domain of human type XV collagen (PMID:20932905)
• Collagen type XV and osteocalcin expression are highly sensitive markers to extracellular calcium (PMID:22034088)
• These results suggest genetic variation in COL15A1 and COL18A1 can modify the age of onset of both early and late onset POAG. (PMID:23621901)
• COL15A1, provide evidence for concomitant epigenetic regulation and genetic susceptibility, and define a class of causal targets that sit at the intersection of genetic and epigenetic predisposition in the etiology of complex disease. (PMID:23912340)
• we identified an epithelial ovarian cancer susceptibility loci at 9q22.33 (rs1413299 in COL15A1, P(meta) = 1.88 x 10(-8)) (PMID:25134534)
• The obtained results indicate that the changes in gene expression in bone marrow progenitor cells can be involved into space flight-induced osteopenia. (PMID:25509878)
• COL15A1 mRNA was up-regulated in hepatocellular cancer (HCC) and collagen XV was expressed along the sinusoid-like endothelium of HCC but not in non-tumoral regions, which implies that collagen XV contributes to the capillarization of HCC. (PMID:26293333)
• This study demonstrated that novel role for collagen XV in motor axon pathfinding and neuromuscular development. (PMID:26937007)
• This study identified collagen XV as a new low O2 tension sensitive gene, and provided a novel mechanistic evidence that directly HIF-1alpha (hypoxia-inducible factor-1 alpha) mediates collagen XV expression in response to hypoxia, since it was found specifically in vivo recruited at collagen XV promoter, in hypoxia-preconditioned mesenchymal stromal cells. (PMID:30537732)
• TGF-beta2 and collagen play pivotal roles in the spheroid formation and anti-aging of human dermal papilla cells. (PMID:34404755)
• Alveolar Vascular Remodeling in Nonspecific Interstitial Pneumonia: Replacement of Normal Lung Capillaries with COL15A1-Positive Endothelial Cells. (PMID:37552025)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	col16a1	ENSDARG00000009194
danio_rerio	col19a1	ENSDARG00000076163
mus_musculus	Col15a1	ENSMUSG00000028339
rattus_norvegicus	Col15a1	ENSRNOG00000060381

Paralogs (37): COL9A2 (ENSG00000049089), COL23A1 (ENSG00000050767), COL11A1 (ENSG00000060718), COL17A1 (ENSG00000065618), COL5A3 (ENSG00000080573), COL4A4 (ENSG00000081052), COL16A1 (ENSG00000084636), COL9A3 (ENSG00000092758), COL20A1 (ENSG00000101203), COL1A1 (ENSG00000108821), COL9A1 (ENSG00000112280), COL7A1 (ENSG00000114270), COL21A1 (ENSG00000124749), COL5A1 (ENSG00000130635), COL4A2 (ENSG00000134871), COL2A1 (ENSG00000139219), COL6A1 (ENSG00000142156), COL6A2 (ENSG00000142173), EDA (ENSG00000158813), COL26A1 (ENSG00000160963), COL1A2 (ENSG00000164692), COL3A1 (ENSG00000168542), COL4A3 (ENSG00000169031), COL22A1 (ENSG00000169436), COL24A1 (ENSG00000171502), COL18A1 (ENSG00000182871), EMID1 (ENSG00000186998), COL4A1 (ENSG00000187498), COL4A5 (ENSG00000188153), COL25A1 (ENSG00000188517), COL27A1 (ENSG00000196739), COL13A1 (ENSG00000197467), COL4A6 (ENSG00000197565), COL11A2 (ENSG00000204248), COL5A2 (ENSG00000204262), COLQ (ENSG00000206561), COL28A1 (ENSG00000215018)

Protein

Protein identifiers

Collagen alpha-1(XV) chain — P39059 (reviewed: P39059)

All UniProt accessions (1): P39059

UniProt curated annotations — full annotation on UniProt →

Function. Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle. Restin potently inhibits angiogenesis.

Subunit / interactions. Trimer; disulfide-linked. Interacts moderately with EFEMP2.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Detected in fibroblasts and urine (at protein level). Detected in placenta (at protein level). Expressed predominantly in internal organs such as adrenal gland, pancreas and kidney.

Post-translational modifications. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. O-glycosylated; with core 1 or possibly core 8 glycans. Contains chondroitin sulfate.

Similarity. Belongs to the multiplexin collagen family.

RefSeq proteins (1): NP_001846* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008160	Collagen	Repeat
IPR010515	Collagenase_NC10/endostatin	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR045463	XV/XVIII_trimerization_dom	Domain
IPR048287	TSPN-like_N	Domain
IPR050149	Collagen_superfamily	Family

Pfam: PF01391, PF06482, PF20010

UniProt features (95 total): region of interest 26, compositionally biased region 14, sequence variant 12, glycosylation site 11, sequence conflict 8, chain 5, domain 5, repeat 4, strand 4, disulfide bond 2, helix 2, signal peptide 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3N3F	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P39059-F1	54.68	0.22

Functional residue map

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

Disulfide bonds (2): 1237–1377, 1339–1369

Glycosylation sites (11): 243, 247, 265, 306, 324, 343, 687, 745, 807, 814, 1046

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1442490	Collagen degradation
R-HSA-1650814	Collagen biosynthesis and modifying enzymes
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures
R-HSA-8948216	Collagen chain trimerization

MSigDB gene sets: 220 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, MCLACHLAN_DENTAL_CARIES_UP, KAAB_FAILED_HEART_ATRIUM_DN, GAANYNYGACNY_UNKNOWN, GOCC_COLLAGEN_TRIMER, ATACCTC_MIR202, WEINMANN_ADAPTATION_TO_HYPOXIA_UP, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, GOBP_BLOOD_VESSEL_MORPHOGENESIS, HNF4_01, PPAR_DR1_Q2, DODD_NASOPHARYNGEAL_CARCINOMA_UP

GO Biological Process (4): angiogenesis (GO:0001525), cell adhesion (GO:0007155), signal transduction (GO:0007165), cell differentiation (GO:0030154)

GO Molecular Function (1): extracellular matrix structural constituent conferring tensile strength (GO:0030020)

GO Cellular Component (10): extracellular region (GO:0005576), collagen type XV trimer (GO:0005582), basement membrane (GO:0005604), obsolete extracellular space (GO:0005615), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), membrane (GO:0016020), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), collagen trimer (GO:0005581)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Collagen formation	2
Degradation of the extracellular matrix	1
Collagen biosynthesis and modifying enzymes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	2
cellular anatomical structure	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular developmental process	1
extracellular matrix structural constituent	1
multiplexin collagen trimer	1
extracellular matrix	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
extracellular vesicle	1
protein-containing complex	1

Protein interactions and networks

STRING

1106 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL15A1	GPC4	O75487	807
COL15A1	GPC1	P35052	752
COL15A1	LAMC1	P11047	608
COL15A1	VTN	P01141	583
COL15A1	LAMB1	P07942	580
COL15A1	NID1	P14543	571
COL15A1	COL14A1	Q05707	559
COL15A1	COL6A2	P12110	541
COL15A1	COL6A1	P12109	541
COL15A1	COL5A1	P20908	536
COL15A1	MMP16	P51512	521
COL15A1	FN1	P02751	519
COL15A1	CTHRC1	Q96CG8	518
COL15A1	COL5A2	P05997	511
COL15A1	NUCLEOLIN	P19338	497

IntAct

7 interactions, top by confidence:

A	B	Type	Score
PINK1	CLUH	psi-mi:“MI:0914”(association)	0.530
TFAP2A	COL15A1	psi-mi:“MI:0915”(physical association)	0.370
TFAP2C	COL15A1	psi-mi:“MI:0915”(physical association)	0.370
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
exuR	COL15A1	psi-mi:“MI:0915”(physical association)	0.000
COL15A1		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): COL15A1 (Affinity Capture-RNA), COL15A1 (Proximity Label-MS), COL15A1 (Affinity Capture-MS), COL15A1 (Affinity Capture-MS), COL15A1 (Proximity Label-MS), COL15A1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A060WQA3, A0MSJ1, A5PN28, A6NHN0, A8WGB1, C7DZK3, O35206, O60279, O88207, O89103, P07897, P13608, P13942, P16112, P20908, P20909, P25940, P39059, P39060, P39061, P55068, P83371, Q07092, Q14767, Q17RW2, Q28019, Q28062, Q28343, Q28670, Q29011, Q30D77, Q32S24, Q3MI99, Q4ZJM7, Q5QNQ9, Q60467, Q61245, Q61282, Q64739, Q6UXH8

Diamond homologs: O35206, P39059, P39060, P39061, P97401, Q5RF67, Q92765, Q95117, Q9IA95, Q80YN4, Q9Y5Q5, Q9Z319

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COL15A1	up-regulates	ECM_synthesis

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	215
Likely benign	38
Benign	34

Top pathogenic / likely-pathogenic (0)

SpliceAI

5505 predictions. Top by Δscore:

Variant	Effect	Δscore
9:98944070:AAGGT:A	donor_loss	1.0000
9:98944072:GGTAA:G	donor_loss	1.0000
9:98944073:G:GG	donor_gain	1.0000
9:98944074:T:A	donor_loss	1.0000
9:98985978:G:GT	donor_gain	1.0000
9:98986047:GCTTT:G	donor_gain	1.0000
9:98986113:G:GG	donor_gain	1.0000
9:98987290:CCAG:C	acceptor_loss	1.0000
9:98987292:A:C	acceptor_loss	1.0000
9:98987292:AG:A	acceptor_gain	1.0000
9:98987292:AGG:A	acceptor_gain	1.0000
9:98987293:GG:G	acceptor_gain	1.0000
9:98987293:GGG:G	acceptor_gain	1.0000
9:99003573:G:GT	donor_gain	1.0000
9:99003583:CTCCA:C	donor_gain	1.0000
9:99003584:TCCA:T	donor_gain	1.0000
9:99003586:CA:C	donor_gain	1.0000
9:99003587:AG:A	donor_loss	1.0000
9:99003588:G:GG	donor_gain	1.0000
9:99003588:G:T	donor_loss	1.0000
9:99003589:TAA:T	donor_loss	1.0000
9:99004893:TTCA:T	acceptor_loss	1.0000
9:99004895:CA:C	acceptor_loss	1.0000
9:99004896:A:AG	acceptor_gain	1.0000
9:99004896:AG:A	acceptor_gain	1.0000
9:99004897:G:GG	acceptor_gain	1.0000
9:99004897:GG:G	acceptor_gain	1.0000
9:99005048:GTG:G	donor_gain	1.0000
9:99005051:G:GG	donor_gain	1.0000
9:99015562:CTTCT:C	donor_gain	1.0000

AlphaMissense

8919 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:99069850:T:G	C1377W	0.998
9:99066941:C:G	C1237W	0.997
9:99068578:G:C	W1287C	0.997
9:99068578:G:T	W1287C	0.997
9:99069848:T:C	C1377R	0.997
9:99069849:G:A	C1377Y	0.997
9:99066939:T:A	C1237S	0.996
9:99066939:T:C	C1237R	0.996
9:99066940:G:C	C1237S	0.996
9:99068576:T:A	W1287R	0.996
9:99068576:T:C	W1287R	0.996
9:99069689:T:A	W1324R	0.996
9:99069689:T:C	W1324R	0.996
9:99069848:T:A	C1377S	0.996
9:99069849:G:C	C1377S	0.996
9:99069673:G:C	W1318C	0.995
9:99069673:G:T	W1318C	0.995
9:99068669:T:A	W1318R	0.994
9:99068669:T:C	W1318R	0.994
9:99069691:G:C	W1324C	0.994
9:99069691:G:T	W1324C	0.994
9:99062085:T:A	W1173R	0.993
9:99062085:T:C	W1173R	0.993
9:99066940:G:A	C1237Y	0.993
9:99066951:G:C	A1241P	0.993
9:99066988:T:C	F1253S	0.993
9:99067061:C:A	N1277K	0.993
9:99067061:C:G	N1277K	0.993
9:99069734:T:A	C1339S	0.993
9:99069735:G:C	C1339S	0.993

dbSNP variants (sampled 300 via entrez): RS1000017206 (9:99038774 G>A,C), RS1000044545 (9:98913788 T>C), RS1000056807 (9:99065031 T>C), RS1000062996 (9:99040340 G>C), RS1000069646 (9:99039159 T>G), RS1000070582 (9:98998502 C>G), RS1000077077 (9:98938146 G>A), RS1000111586 (9:98921724 C>T), RS1000118791 (9:99040002 A>G), RS1000129473 (9:98936085 G>A,T), RS1000170061 (9:99058459 A>G), RS1000212483 (9:99030873 A>G), RS1000212669 (9:99016147 A>G,T), RS1000224745 (9:98936352 G>A), RS1000235863 (9:98999854 TGC>T)

Disease associations

OMIM: gene MIM:120325 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

20 associations (top):

Study	Trait	p-value
GCST002576_4	Epithelial ovarian cancer	2.000000e-08
GCST003219_28	Advanced age-related macular degeneration	4.000000e-10
GCST006585_254	Blood protein levels	2.000000e-14
GCST006629_70	Pulse pressure	1.000000e-23
GCST007269_106	Pulse pressure	9.000000e-18
GCST007692_123	Chronic obstructive pulmonary disease	1.000000e-10
GCST008163_251	Height	8.000000e-07
GCST009218_24	Lateral ventricle temporal horn volume	2.000000e-06
GCST009798_9	Asthma	2.000000e-10
GCST010043_164	Asthma	1.000000e-11
GCST010516_5	Fractures (paediatric)	1.000000e-06
GCST010703_310	Brain morphology (MOSTest)	5.000000e-25
GCST010817_3	Gut microbiota alpha diversity (Shannon index)	4.000000e-07
GCST90000025_414	Appendicular lean mass	2.000000e-12
GCST90006993_12	Gut microbiota relative abundance (unclassified genus belonging to the order Clostridiales)	8.000000e-06
GCST90020025_1133	Waist-to-hip ratio adjusted for BMI	2.000000e-09
GCST90020027_916	Waist-hip index	2.000000e-10
GCST90020029_101	Waist circumference adjusted for body mass index	6.000000e-10
GCST90020029_102	Waist circumference adjusted for body mass index	1.000000e-09
GCST90020029_75	Waist circumference adjusted for body mass index	8.000000e-12

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:1001492	atrophic macular degeneration
EFO:0005763	pulse pressure measurement
EFO:0004346	neuroimaging measurement
EFO:0007874	gut microbiome measurement
EFO:0004980	appendicular lean mass
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2364188 (PROTEIN COMPLEX GROUP)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects expression, increases reaction, affects cotreatment, increases expression	3
bisphenol A	affects methylation, increases expression, affects cotreatment	2
sodium arsenite	decreases expression, increases expression, affects splicing	2
bisphenol S	increases expression, increases methylation	2
Cisplatin	increases expression, decreases response to substance	2
Dexamethasone	affects cotreatment, decreases expression	2
Doxorubicin	decreases response to substance, decreases expression	2
Methotrexate	decreases response to substance, affects response to substance	2
Tetrachlorodibenzodioxin	affects expression, decreases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
2,4,6-tribromophenol	increases expression	1
deoxynivalenol	decreases expression	1
decabromobiphenyl ether	increases expression	1
butyraldehyde	increases expression	1
tetrabromobisphenol A	increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
perfluorooctane sulfonic acid	decreases expression	1
paricalcitol	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
2,2’,4,4’,5-brominated diphenyl ether	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
incobotulinumtoxinA	increases expression	1
(+)-JQ1 compound	decreases expression	1

Clinical trials (associated diseases)

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