HAPLN1
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Summary
HAPLN1 (hyaluronan and proteoglycan link protein 1, HGNC:2380) is a protein-coding gene on chromosome 5q14.3, encoding Hyaluronan and proteoglycan link protein 1 (P10915). Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix.
Predicted to enable hyaluronic acid binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in central nervous system development and skeletal system development. Located in collagen-containing extracellular matrix.
Source: NCBI Gene 1404 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 55 total
- MANE Select transcript:
NM_001884
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2380 |
| Approved symbol | HAPLN1 |
| Name | hyaluronan and proteoglycan link protein 1 |
| Location | 5q14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000145681 |
| Ensembl biotype | protein_coding |
| OMIM | 115435 |
| Entrez | 1404 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000274341, ENST00000503117, ENST00000504713, ENST00000508307, ENST00000510978, ENST00000514416, ENST00000515590, ENST00000875523, ENST00000936313, ENST00000936314
RefSeq mRNA: 1 — MANE Select: NM_001884
NM_001884
CCDS: CCDS4061
Canonical transcript exons
ENST00000274341 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000971593 | 83652453 | 83652824 |
| ENSE00001005118 | 83673424 | 83673549 |
| ENSE00001120540 | 83637805 | 83641785 |
| ENSE00001163611 | 83720789 | 83720855 |
| ENSE00003789770 | 83644363 | 83644665 |
Expression profiles
Bgee: expression breadth ubiquitous, 172 present calls, max score 99.95.
FANTOM5 (CAGE): breadth broad, TPM avg 16.6134 / max 824.1748, expressed in 600 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 62365 | 10.4147 | 525 |
| 62368 | 3.6895 | 394 |
| 62369 | 1.1077 | 253 |
| 62366 | 0.7471 | 166 |
| 62367 | 0.5379 | 191 |
| 62362 | 0.0625 | 21 |
| 62364 | 0.0444 | 21 |
| 62363 | 0.0095 | 5 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibia | UBERON:0000979 | 99.95 | gold quality |
| cartilage tissue | UBERON:0002418 | 99.74 | gold quality |
| placenta | UBERON:0001987 | 89.61 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.39 | gold quality |
| endothelial cell | CL:0000115 | 88.28 | gold quality |
| colonic epithelium | UBERON:0000397 | 87.74 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.35 | gold quality |
| buccal mucosa cell | CL:0002336 | 84.46 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 82.78 | gold quality |
| jejunal mucosa | UBERON:0000399 | 81.55 | gold quality |
| rectum | UBERON:0001052 | 80.94 | gold quality |
| trachea | UBERON:0003126 | 80.51 | gold quality |
| right coronary artery | UBERON:0001625 | 78.58 | gold quality |
| colonic mucosa | UBERON:0000317 | 78.29 | gold quality |
| calcaneal tendon | UBERON:0003701 | 76.53 | gold quality |
| ascending aorta | UBERON:0001496 | 75.86 | gold quality |
| thoracic aorta | UBERON:0001515 | 75.40 | gold quality |
| embryo | UBERON:0000922 | 73.32 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 72.98 | gold quality |
| duodenum | UBERON:0002114 | 72.82 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 72.49 | gold quality |
| prefrontal cortex | UBERON:0000451 | 71.87 | gold quality |
| left coronary artery | UBERON:0001626 | 71.70 | gold quality |
| periodontal ligament | UBERON:0008266 | 71.51 | silver quality |
| coronary artery | UBERON:0001621 | 71.40 | gold quality |
| jejunum | UBERON:0002115 | 71.14 | gold quality |
| tendon | UBERON:0000043 | 70.92 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 70.54 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 70.03 | gold quality |
| ventricular zone | UBERON:0003053 | 69.29 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-23 | yes | 2113.70 |
| E-MTAB-6701 | yes | 1824.95 |
| E-HCAD-24 | yes | 1764.27 |
| E-MTAB-9388 | yes | 1677.57 |
| E-MTAB-7008 | yes | 921.35 |
| E-MTAB-10018 | yes | 654.89 |
| E-HCAD-11 | yes | 605.12 |
| E-MTAB-3929 | yes | 289.58 |
| E-CURD-46 | yes | 21.67 |
| E-CURD-112 | yes | 7.95 |
| E-ANND-3 | yes | 5.34 |
| E-MTAB-8271 | no | 2223.59 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RUNX1, RUNX2, SOX9
miRNA regulators (miRDB)
259 targeting HAPLN1, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| 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-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-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
Literature-anchored findings (GeneRIF, showing 18)
- link protein may function as a stabilizer of the interaction between aggrecan and hyaluronan in cartilage and between versican and hyaluronan in many tissues (PMID:14724283)
- SOX9 is a key regulator of CRTL1 (PMID:15456769)
- cLP and versican did not bind directly to each other in solution yet formed ternary complexes with hyaluronan (PMID:15590670)
- Overexpression of HAPLN1 and its SP-IgV domain increases tumorigenic properties of mesothelioma. Thus, targeting the SP-IgV domain may be one of the therapeutic approaches in cancer treatment. (PMID:19351750)
- An in vitro model of perineuronal nets has been developed demonstrating that cartilage link protein (along with hyaluronan synthase) are necessary for their formation. (PMID:20584105)
- Single-nucleotide polymorphism in the hyaluronan and proteoglycan link protein 1 (HAPLN1) gene is associated with spinal osteophyte formation and disc degeneration in Japanese women. (PMID:20953637)
- HAPLN1 is overexpressed in metastatic melanoma and is secreted exclusively by the tumor cells (PMID:22159717)
- CSGalNAcT-1 and Hapln-1 may play important roles in the pathogenesis of Kashin-Beck disease and osteoarthritis. (PMID:23748413)
- HAPLN1 reflects a signaling network leading to stemness, mesenchymal commitment and hepatocellular carcinoma progression (PMID:27191501)
- HAPLN1 is produced in bone marrow stromal cells from multiple myeloma patients and can activate bortezomib-resistant NF-kappaB. (PMID:29279332)
- A novel role of HAPLN1 loss was reported in the aging lymphatic ECM in mediating lymphatic endothelial permeability, thus permitting melanoma cells to escape from the lymphatic system to distant metastatic sites. (PMID:30279172)
- A Role for HAPLN1 During Phenotypic Modulation of Human Lung Fibroblasts In Vitro. (PMID:33064036)
- A Hyaluronan and Proteoglycan Link Protein 1 Matrikine: Role of Matrix Metalloproteinase 2 in Multiple Myeloma NF-kappaB Activation and Drug Resistance. (PMID:35604822)
- HAPLN1 Affects Cell Viability and Promotes the Pro-Inflammatory Phenotype of Fibroblast-Like Synoviocytes. (PMID:35720292)
- Hyaluronan and Proteoglycan Link Protein 1 Activates the BMP4/Smad1/5/8 Signaling Pathway to Promote Osteogenic Differentiation: an Implication in Fracture Healing. (PMID:36737556)
- HAPLN1 matrikine: a bone marrow homing factor linked to poor outcomes in patients with MM. (PMID:37647592)
- Probing binding and occlusion of substrate in the human creatine transporter-1 by computation and mutagenesis. (PMID:38032325)
- Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study. (PMID:39358671)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hapln1b | ENSDARG00000068516 |
| ENSDARG00000102395 | ||
| mus_musculus | Hapln1 | ENSMUSG00000021613 |
| rattus_norvegicus | Hapln1 | ENSRNOG00000032002 |
Paralogs (7): VCAN (ENSG00000038427), NCAN (ENSG00000130287), BCAN (ENSG00000132692), HAPLN2 (ENSG00000132702), HAPLN3 (ENSG00000140511), ACAN (ENSG00000157766), HAPLN4 (ENSG00000187664)
Protein
Protein identifiers
Hyaluronan and proteoglycan link protein 1 — P10915 (reviewed: P10915)
Alternative names: Cartilage-linking protein 1, Proteoglycan link protein
All UniProt accessions (7): D6RAK7, D6RBS1, D6RBX9, D6RC59, D6RFI7, D6RG04, P10915
UniProt curated annotations — full annotation on UniProt →
Function. Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix.
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Tissue specificity. Widely expressed. Weakly expressed in the brain.
Similarity. Belongs to the HAPLN family.
RefSeq proteins (1): NP_001875* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000538 | Link_dom | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR016186 | C-type_lectin-like/link_sf | Homologous_superfamily |
| IPR016187 | CTDL_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050691 | Hyaluronan_bind_Proteoglycan | Family |
Pfam: PF00193, PF07686
UniProt features (15 total): disulfide bond 5, domain 3, sequence variant 2, glycosylation site 2, propeptide 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P10915-F1 | 89.64 | 0.81 |
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 (5): 279–349, 304–325, 61–139, 181–252, 205–226
Glycosylation sites (2): 21, 56
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-3000178 | ECM proteoglycans |
MSigDB gene sets: 254 (showing top):
HNF3ALPHA_Q6, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, TATTATA_MIR374, MEF2_02, GGGTGGRR_PAX4_03, NAISHIRO_CTNNB1_TARGETS_WITH_LEF1_MOTIF, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, TCF4_Q5, MODULE_205, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, WTGAAAT_UNKNOWN, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, TGACATY_UNKNOWN, IRF_Q6, GOMF_GLYCOSAMINOGLYCAN_BINDING
GO Biological Process (3): skeletal system development (GO:0001501), cell adhesion (GO:0007155), central nervous system development (GO:0007417)
GO Molecular Function (2): hyaluronic acid binding (GO:0005540), extracellular matrix structural constituent conferring compression resistance (GO:0030021)
GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), synapse (GO:0045202), perineuronal net (GO:0072534)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| system development | 2 |
| cellular process | 1 |
| nervous system development | 1 |
| carboxylic acid binding | 1 |
| extracellular matrix structural constituent | 1 |
| cellular anatomical structure | 1 |
| external encapsulating structure | 1 |
| cell junction | 1 |
| perisynaptic extracellular matrix | 1 |
Protein interactions and networks
STRING
1462 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HAPLN1 | ACAN | P16112 | 925 |
| HAPLN1 | COL9A1 | P20849 | 818 |
| HAPLN1 | COL11A1 | P12107 | 774 |
| HAPLN1 | COL9A2 | Q14055 | 765 |
| HAPLN1 | SLC6A8 | P48029 | 726 |
| HAPLN1 | COL2A1 | P02458 | 717 |
| HAPLN1 | COMP | P49747 | 703 |
| HAPLN1 | COL11A2 | P13942 | 680 |
| HAPLN1 | EDIL3 | O43854 | 644 |
| HAPLN1 | HAS3 | O00219 | 611 |
| HAPLN1 | MATN3 | O15232 | 590 |
| HAPLN1 | LUM | P51884 | 581 |
| HAPLN1 | PRELP | P51888 | 580 |
| HAPLN1 | GATM | P50440 | 573 |
| HAPLN1 | IHH | Q14623 | 564 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ADGRA2 | HAPLN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HAPLN1 | CNTN4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HAPLN1 | MPIG6B | psi-mi:“MI:0915”(physical association) | 0.400 |
| IGDCC4 | HAPLN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IL1RL1 | HAPLN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MICA | HAPLN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HAPLN1 | PRTG | psi-mi:“MI:0915”(physical association) | 0.400 |
| AGER | HAPLN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HAPLN1 | TNFRSF11B | psi-mi:“MI:0915”(physical association) | 0.400 |
| TREML2 | HAPLN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MAPT | NCAN | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| AFG2B | MMP24OS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (5): HAPLN1 (Reconstituted Complex), HAPLN1 (Affinity Capture-MS), HAPLN1 (Affinity Capture-MS), HAPLN1 (Affinity Capture-MS), APP (Reconstituted Complex)
ESM2 similar proteins: A1A4K5, A2ARA8, A7XY94, A8MWY0, O08859, O15041, O42237, O54890, O70309, P03994, P05106, P07354, P10859, P10915, P15396, P18084, P21860, P22413, P26009, P35436, P53708, P55252, P70207, P70275, P80747, P98066, Q00959, Q00960, Q01097, Q07441, Q13224, Q13822, Q28381, Q3UZV7, Q5R1P3, Q5RB22, Q61526, Q64610, Q6BEA0, Q6P9A2
Diamond homologs: A0A182C2Z2, C6KFA3, F1RWC3, O08628, O08859, O14594, O14786, O35276, O35375, O43897, O57382, O57460, O60462, O60494, O70244, P03994, P07354, P07897, P07898, P10859, P10915, P13497, P13608, P13611, P14745, P16112, P25723, P28824, P42674, P55066, P55067, P55252, P79795, P97333, P98063, P98065, P98066, P98068, P98069, P98070
SIGNOR signaling
7 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| MMP2 | “down-regulates quantity by destabilization” | HAPLN1 | cleavage |
| MMP9 | “down-regulates quantity by destabilization” | HAPLN1 | cleavage |
| MMP7 | “down-regulates quantity by destabilization” | HAPLN1 | cleavage |
| MMP3 | “down-regulates quantity by destabilization” | HAPLN1 | cleavage |
| MMP10 | “down-regulates quantity by destabilization” | HAPLN1 | cleavage |
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1257 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:83641782:CGGC:C | acceptor_gain | 1.0000 |
| 5:83641784:GCC:G | acceptor_loss | 1.0000 |
| 5:83641786:C:CC | acceptor_gain | 1.0000 |
| 5:83641786:CT:C | acceptor_loss | 1.0000 |
| 5:83641787:T:A | acceptor_loss | 1.0000 |
| 5:83644426:AGTT:A | donor_gain | 1.0000 |
| 5:83644429:T:TA | donor_gain | 1.0000 |
| 5:83644556:CAG:C | donor_gain | 1.0000 |
| 5:83644663:CAC:C | acceptor_gain | 1.0000 |
| 5:83644671:C:T | acceptor_gain | 1.0000 |
| 5:83652449:ATACC:A | donor_loss | 1.0000 |
| 5:83652450:TA:T | donor_loss | 1.0000 |
| 5:83652451:A:AC | donor_gain | 1.0000 |
| 5:83652451:A:T | donor_loss | 1.0000 |
| 5:83652452:C:CC | donor_gain | 1.0000 |
| 5:83652653:T:TA | donor_gain | 1.0000 |
| 5:83652654:C:A | donor_gain | 1.0000 |
| 5:83652820:TTCTG:T | acceptor_gain | 1.0000 |
| 5:83652822:CTG:C | acceptor_gain | 1.0000 |
| 5:83652825:C:CC | acceptor_gain | 1.0000 |
| 5:83652831:T:C | acceptor_gain | 1.0000 |
| 5:83652831:T:TC | acceptor_gain | 1.0000 |
| 5:83673418:CCTTA:C | donor_loss | 1.0000 |
| 5:83673419:CTTA:C | donor_loss | 1.0000 |
| 5:83673420:TTA:T | donor_loss | 1.0000 |
| 5:83673421:TAC:T | donor_loss | 1.0000 |
| 5:83673422:A:T | donor_loss | 1.0000 |
| 5:83673423:C:CT | donor_loss | 1.0000 |
| 5:83673548:CA:C | acceptor_gain | 1.0000 |
| 5:83673562:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
2312 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:83652684:A:G | W81R | 1.000 |
| 5:83652684:A:T | W81R | 1.000 |
| 5:83641514:G:C | C349W | 0.999 |
| 5:83641515:C:T | C349Y | 0.999 |
| 5:83641637:C:A | W308C | 0.999 |
| 5:83641637:C:G | W308C | 0.999 |
| 5:83641639:A:G | W308R | 0.999 |
| 5:83641639:A:T | W308R | 0.999 |
| 5:83641724:A:C | C279W | 0.999 |
| 5:83641725:C:T | C279Y | 0.999 |
| 5:83644382:A:C | C252W | 0.999 |
| 5:83644595:A:C | C181W | 0.999 |
| 5:83652509:C:G | C139S | 0.999 |
| 5:83652510:A:G | C139R | 0.999 |
| 5:83652510:A:T | C139S | 0.999 |
| 5:83652682:C:A | W81C | 0.999 |
| 5:83652682:C:G | W81C | 0.999 |
| 5:83641515:C:A | C349F | 0.998 |
| 5:83641515:C:G | C349S | 0.998 |
| 5:83641516:A:G | C349R | 0.998 |
| 5:83641516:A:T | C349S | 0.998 |
| 5:83641587:C:G | C325S | 0.998 |
| 5:83641588:A:T | C325S | 0.998 |
| 5:83641650:C:G | C304S | 0.998 |
| 5:83641650:C:T | C304Y | 0.998 |
| 5:83641651:A:T | C304S | 0.998 |
| 5:83641725:C:A | C279F | 0.998 |
| 5:83641725:C:G | C279S | 0.998 |
| 5:83641726:A:G | C279R | 0.998 |
| 5:83641726:A:T | C279S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000048946 (5:83721143 A>T), RS1000105715 (5:83698402 A>C), RS1000118097 (5:83678053 A>G), RS1000125556 (5:83708968 A>G), RS1000195464 (5:83718538 T>C), RS1000281063 (5:83695715 T>A,C), RS1000286601 (5:83643015 T>C), RS1000364272 (5:83711279 A>G), RS1000411356 (5:83717566 T>C), RS1000443830 (5:83689850 T>A), RS1000456192 (5:83679370 A>G), RS1000544023 (5:83680378 C>T), RS1000558216 (5:83674395 A>G), RS1000560827 (5:83708119 G>A), RS1000600685 (5:83685537 A>C,T)
Disease associations
OMIM: gene MIM:115435 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000095_3 | Prostate cancer | 3.000000e-06 |
| GCST001345_1 | Ankylosing spondylitis | 9.000000e-10 |
| GCST001525_14 | Visceral fat | 2.000000e-06 |
| GCST002875_12 | Diisocyanate-induced asthma | 9.000000e-06 |
| GCST006063_1 | White matter integrity (fractional anisotropy) | 5.000000e-10 |
| GCST006064_1 | White matter integrity (mean diffusivity) | 6.000000e-13 |
| GCST006585_2705 | Blood protein levels | 1.000000e-06 |
| GCST008151_11 | Waist circumference | 6.000000e-06 |
| GCST008160_56 | Waist circumference | 6.000000e-06 |
| GCST008832_23 | Gastroesophageal reflux disease | 2.000000e-08 |
| GCST009391_332 | Metabolite levels | 9.000000e-06 |
| GCST009391_358 | Metabolite levels | 5.000000e-06 |
| GCST009391_852 | Metabolite levels | 8.000000e-06 |
| GCST009921_12 | Carotid intima media thickness (mean) | 9.000000e-10 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006995 | response to diisocyanate |
| EFO:0004641 | white matter integrity |
| EFO:0010432 | triacylglycerol 56:5 measurement |
| EFO:0010434 | triacylglycerol 56:7 measurement |
| EFO:0010398 | sphingomyelin 24:1 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression, decreases methylation | 8 |
| methylmercuric chloride | decreases expression, increases expression | 3 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| belinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Progesterone | decreases expression, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| deoxynivalenol | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| triadimefon | decreases 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 | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression, increases expression | 1 |
| Estradiol | affects expression | 1 |
| Silicon Dioxide | affects expression | 1 |
| T-2 Toxin | decreases expression | 1 |
| Tamoxifen | affects expression | 1 |
| Tretinoin | increases expression | 1 |
| Triclosan | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): gastroesophageal reflux disease