NCAN
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Summary
NCAN (neurocan, HGNC:2465) is a protein-coding gene on chromosome 19p12, encoding Neurocan core protein (O14594). May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N-CAM).
Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.
Source: NCBI Gene 1463 — RefSeq curated summary.
At a glance
- GWAS associations: 27
- Clinical variants (ClinVar): 220 total
- MANE Select transcript:
NM_004386
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2465 |
| Approved symbol | NCAN |
| Name | neurocan |
| Location | 19p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000130287 |
| Ensembl biotype | protein_coding |
| OMIM | 600826 |
| Entrez | 1463 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 2 retained_intron
ENST00000252575, ENST00000585410, ENST00000588231, ENST00000590187, ENST00000910089, ENST00000910090, ENST00000910091, ENST00000927540, ENST00000952495, ENST00000952496
RefSeq mRNA: 1 — MANE Select: NM_004386
NM_004386
CCDS: CCDS12397
Canonical transcript exons
ENST00000252575 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000894643 | 19238253 | 19238411 |
| ENSE00000894647 | 19226486 | 19227073 |
| ENSE00000894648 | 19224977 | 19225270 |
| ENSE00000894649 | 19224306 | 19224433 |
| ENSE00000894650 | 19224021 | 19224195 |
| ENSE00000894651 | 19218915 | 19219316 |
| ENSE00000894652 | 19216947 | 19217026 |
| ENSE00002710181 | 19211958 | 19212064 |
| ENSE00002926313 | 19249766 | 19252233 |
| ENSE00003463567 | 19227281 | 19228639 |
| ENSE00003469068 | 19233789 | 19233905 |
| ENSE00003633455 | 19234983 | 19235096 |
| ENSE00003685867 | 19248700 | 19248882 |
| ENSE00003703781 | 19245313 | 19245457 |
| ENSE00003709925 | 19240603 | 19240685 |
Expression profiles
Bgee: expression breadth ubiquitous, 126 present calls, max score 99.29.
FANTOM5 (CAGE): breadth broad, TPM avg 3.9049 / max 304.5395, expressed in 237 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 174775 | 3.7371 | 232 |
| 174776 | 0.1232 | 76 |
| 208740 | 0.0446 | 22 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 99.29 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.80 | gold quality |
| cortical plate | UBERON:0005343 | 98.76 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.38 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 96.38 | gold quality |
| parietal lobe | UBERON:0001872 | 96.21 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.57 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 95.48 | gold quality |
| entorhinal cortex | UBERON:0002728 | 94.66 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 94.14 | gold quality |
| frontal pole | UBERON:0002795 | 93.67 | gold quality |
| temporal lobe | UBERON:0001871 | 93.61 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 93.29 | gold quality |
| frontal cortex | UBERON:0001870 | 93.11 | gold quality |
| neocortex | UBERON:0001950 | 93.06 | gold quality |
| cerebral cortex | UBERON:0000956 | 93.04 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.00 | gold quality |
| nucleus accumbens | UBERON:0001882 | 92.83 | gold quality |
| telencephalon | UBERON:0001893 | 92.83 | gold quality |
| amygdala | UBERON:0001876 | 92.78 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.73 | gold quality |
| occipital lobe | UBERON:0002021 | 92.71 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.69 | gold quality |
| caudate nucleus | UBERON:0001873 | 92.61 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 92.55 | gold quality |
| Ammon’s horn | UBERON:0001954 | 92.35 | gold quality |
| right frontal lobe | UBERON:0002810 | 92.32 | gold quality |
| cingulate cortex | UBERON:0003027 | 92.15 | gold quality |
| putamen | UBERON:0001874 | 92.12 | gold quality |
| paraflocculus | UBERON:0005351 | 92.12 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 12.35 |
| E-ANND-3 | yes | 4.42 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EGR1
miRNA regulators (miRDB)
134 targeting NCAN, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| 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-493-5P | 99.96 | 72.47 | 2382 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
Literature-anchored findings (GeneRIF, showing 15)
- Genetic variation in the neurocan gene (NCAN) showed genome-wide significant association with bipolar disorder. (PMID:21353194)
- High neurocan is associated with the invasive phenotype of low-grade astrocytoma. (PMID:21997179)
- Sex (male)-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels is observed both the Mulao and Han ethnic groups. (PMID:22208664)
- The rs1064395 A-allele was significantly over-represented in schizophrenia patients compared to controls. Our data suggest that genetic variation in NCAN is a common risk factor for bipolar disorder and schizophrenia. (PMID:22497794)
- In the combined patient sample, the NCAN risk allele was significantly associated with the “mania” factor, in particular the subdimension “overactivity. (PMID:22952076)
- no genetic association between risk allele A for NCAN locus rs1064395 and schizophrenia. (PMID:23198940)
- NCAN rs2228603[T] is a risk factor for liver inflammation and fibrosis, suggesting that this locus is responsible for progression from steatosis to steatohepatitis. (PMID:23594525)
- NCAN risk variant is associated with cortical folding and thickness in bipolar disorder and schizophrenia. (PMID:23795679)
- The frequency of the NCAN rs2228603 T allele was significantly increased in patients with HCC due to ALD (15.1%) compared to alcoholic cirrhosis without HCC (9.3%), alcoholic controls (7.2%), healthy controls (7.9%), and HCV associated HCC (9.1%). (PMID:24946282)
- Conditional analysis shows that a neighbouring gene, TM6SF2, not NCAN, is responsible for the Chr 19 GWAS locus previously associated with fibrosing non-alcoholic fatty liver disease (NAFLD). (PMID:24978903)
- current data demonstrate that common genetic variation in NCAN influences both neural processing and cognitive performance in healthy subjects. (PMID:25220293)
- NCAN genotype is associated with limbic gray matter alterations in healthy and subjects with major depression in brain areas implicated in emotion perception and regulation (PMID:25801500)
- This study aims to analyze the influences of single-nucleotide polymorphism in the NCAN-CILP2 region on non-alcoholic fatty liver disease and plasma lipid levels in the Asian and Pacific ethnic groups. (PMID:26758378)
- NCAN rs2228603 is not a risk factor for the incidence of NAFLD in Chinese population. The dual and opposite role of T variant in protecting liver with a higher level of HDL was found. (PMID:27887608)
- Neurocan genome-wide psychiatric risk variant affects explicit memory performance and hippocampal function in healthy humans. (PMID:32583466)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ncanb | ENSDARG00000005783 |
| danio_rerio | ncana | ENSDARG00000100128 |
| mus_musculus | Ncan | ENSMUSG00000002341 |
| rattus_norvegicus | Ncan | ENSRNOG00000048036 |
Paralogs (7): VCAN (ENSG00000038427), BCAN (ENSG00000132692), HAPLN2 (ENSG00000132702), HAPLN3 (ENSG00000140511), HAPLN1 (ENSG00000145681), ACAN (ENSG00000157766), HAPLN4 (ENSG00000187664)
Protein
Protein identifiers
Neurocan core protein — O14594 (reviewed: O14594)
Alternative names: Chondroitin sulfate proteoglycan 3
All UniProt accessions (2): O14594, K7EKF8
UniProt curated annotations — full annotation on UniProt →
Function. May modulate neuronal adhesion and neurite growth during development by binding to neural cell adhesion molecules (NG-CAM and N-CAM). Chondroitin sulfate proteoglycan; binds to hyaluronic acid.
Subcellular location. Secreted.
Tissue specificity. Detected in cerebrospinal fluid (at protein level). Brain.
Post-translational modifications. O-glycosylated; contains chondroitin sulfate.
Similarity. Belongs to the aggrecan/versican proteoglycan family.
RefSeq proteins (1): NP_004377* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000152 | EGF-type_Asp/Asn_hydroxyl_site | PTM |
| IPR000436 | Sushi_SCR_CCP_dom | Domain |
| IPR000538 | Link_dom | Domain |
| IPR000742 | EGF | Domain |
| IPR001304 | C-type_lectin-like | Domain |
| IPR001881 | EGF-like_Ca-bd_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 |
| IPR018097 | EGF_Ca-bd_CS | Conserved_site |
| IPR018378 | C-type_lectin_CS | Conserved_site |
| IPR035976 | Sushi/SCR/CCP_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050691 | Hyaluronan_bind_Proteoglycan | Family |
Pfam: PF00008, PF00059, PF00084, PF00193, PF07686
UniProt features (51 total): disulfide bond 16, region of interest 9, domain 7, compositionally biased region 6, glycosylation site 6, sequence variant 3, sequence conflict 2, signal peptide 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O14594-F1 | 58.75 | 0.23 |
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 (16): 59–140, 182–253, 206–227, 280–355, 304–325, 1012–1023, 1017–1032, 1034–1043, 1050–1061, 1055–1070, 1072–1081, 1088–1099, 1116–1208, 1184–1200, 1215–1258, 1244–1271
Glycosylation sites (6): 122, 340, 381, 411, 1026, 1223
Function
Pathways and Gene Ontology
Reactome pathways
27 pathways
| ID | Pathway |
|---|---|
| R-HSA-1971475 | Glycosaminoglycan-protein linkage region biosynthesis |
| R-HSA-2022870 | CS-GAG biosynthesis |
| R-HSA-2022923 | DS-GAG biosynthesis |
| R-HSA-2024101 | CS/DS degradation |
| R-HSA-3000178 | ECM proteoglycans |
| R-HSA-3560783 | Defective B4GALT7 causes EDS, progeroid type |
| R-HSA-3560801 | Defective B3GAT3 causes JDSSDHD |
| R-HSA-3595172 | Defective CHST3 causes SEDCJD |
| R-HSA-3595174 | Defective CHST14 causes EDS, musculocontractural type |
| R-HSA-3595177 | Defective CHSY1 causes TPBS |
| R-HSA-373760 | L1CAM interactions |
| R-HSA-419037 | NCAM1 interactions |
| R-HSA-4420332 | Defective B3GALT6 causes EDSP2 and SEMDJL1 |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-1430728 | Metabolism |
| R-HSA-1474244 | Extracellular matrix organization |
| R-HSA-1630316 | Glycosaminoglycan metabolism |
| R-HSA-1638091 | Heparan sulfate/heparin (HS-GAG) metabolism |
| R-HSA-1643685 | Disease |
| R-HSA-1793185 | Chondroitin sulfate/dermatan sulfate metabolism |
| R-HSA-3560782 | Diseases associated with glycosaminoglycan metabolism |
| R-HSA-375165 | NCAM signaling for neurite out-growth |
| R-HSA-3781865 | Diseases of glycosylation |
| R-HSA-422475 | Axon guidance |
| R-HSA-5668914 | Diseases of metabolism |
| R-HSA-71387 | Metabolism of carbohydrates and carbohydrate derivatives |
| R-HSA-9675108 | Nervous system development |
MSigDB gene sets: 170 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, GSE45365_NK_CELL_VS_CD11B_DC_UP, GNF2_RTN1, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, DARWICHE_SKIN_TUMOR_PROMOTER_UP, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_UP, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, MEF2_02, MODULE_66, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, MODULE_410, TGANTCA_AP1_C
GO Biological Process (3): skeletal system development (GO:0001501), cell adhesion (GO:0007155), central nervous system development (GO:0007417)
GO Molecular Function (3): calcium ion binding (GO:0005509), hyaluronic acid binding (GO:0005540), carbohydrate binding (GO:0030246)
GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796), lysosomal lumen (GO:0043202), synapse (GO:0045202), perineuronal net (GO:0072534)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Diseases associated with glycosaminoglycan metabolism | 6 |
| Glycosaminoglycan metabolism | 3 |
| Chondroitin sulfate/dermatan sulfate metabolism | 3 |
| Extracellular matrix organization | 1 |
| Axon guidance | 1 |
| NCAM signaling for neurite out-growth | 1 |
| Metabolism of carbohydrates and carbohydrate derivatives | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| system development | 2 |
| cellular process | 1 |
| nervous system development | 1 |
| metal ion binding | 1 |
| carboxylic acid binding | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| Golgi apparatus | 1 |
| intracellular organelle lumen | 1 |
| lysosome | 1 |
| vacuolar lumen | 1 |
| cell junction | 1 |
| perisynaptic extracellular matrix | 1 |
Protein interactions and networks
STRING
2012 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NCAN | PTPRZ1 | P23471 | 972 |
| NCAN | ACAN | P16112 | 949 |
| NCAN | VCAN | P13611 | 946 |
| NCAN | BCAN | Q96GW7 | 908 |
| NCAN | PNPLA3 | Q9NST1 | 750 |
| NCAN | MEF2B | Q02080 | 746 |
| NCAN | TM6SF2 | Q9BZW4 | 743 |
| NCAN | RFXANK | O14593 | 742 |
| NCAN | LYPLAL1 | Q5VWZ2 | 696 |
| NCAN | PPP1R3B | Q86XI6 | 662 |
| NCAN | GPC1 | P35052 | 628 |
| NCAN | CILP2 | Q8IUL8 | 581 |
| NCAN | TENM4 | Q6N022 | 571 |
| NCAN | AXL | P30530 | 550 |
| NCAN | TYRO3 | Q06418 | 550 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NCAN | psi-mi:“MI:0915”(physical association) | 0.370 | |
| MAPT | NCAN | psi-mi:“MI:0914”(association) | 0.350 |
| APP | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (15): NCAN (Reconstituted Complex), NCAN (Far Western), NCAN (Reconstituted Complex), NCAN (Reconstituted Complex), NCAN (Reconstituted Complex), NCAN (Affinity Capture-Western), NCAN (Reconstituted Complex), NCAN (Co-fractionation), LIG1 (Co-fractionation), MNAT1 (Co-fractionation), KTN1 (Co-fractionation), CMTR1 (Co-fractionation), NCAN (Cross-Linking-MS (XL-MS)), MTRR (Cross-Linking-MS (XL-MS)), NCAN (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8Y7Y5, A1KXC4, A6QLF8, C9JL84, E9Q7X6, I3L273, J3KML8, O00592, O14594, O35188, O55145, O57604, O60667, O95196, P06484, P07141, P09603, P13838, P15702, P16150, P55067, P59647, P78423, Q1ECS6, Q28645, Q2TA21, Q2TB54, Q3TNW5, Q3TYV2, Q4V7A5, Q52S86, Q58Y74, Q5IS41, Q5M871, Q5SWP3, Q6MG22, Q6NXZ1, Q6UXF1, Q71M36, Q7Z434
Diamond homologs: A5PMY6, A6QP79, D3ZWT9, O14594, P02706, P02707, P05451, P06734, P07306, P07307, P07897, P07898, P08290, P08661, P10716, P10758, P11226, P13608, P13611, P16112, P19999, P20693, P22897, P24721, P34927, P41317, P43137, P48304, P49300, P49301, P55066, P55067, P60883, P70194, P81282, P82596, P86854, Q28343, Q28670, Q29011
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
220 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 197 |
| Likely benign | 12 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2358 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:19213464:GAGC:G | donor_gain | 1.0000 |
| 19:19217025:GG:G | donor_gain | 1.0000 |
| 19:19217026:GG:G | donor_gain | 1.0000 |
| 19:19219314:CAG:C | donor_loss | 1.0000 |
| 19:19219315:AGGTC:A | donor_loss | 1.0000 |
| 19:19219317:G:C | donor_loss | 1.0000 |
| 19:19224016:CACA:C | acceptor_loss | 1.0000 |
| 19:19224018:CAGGT:C | acceptor_loss | 1.0000 |
| 19:19224020:GGT:G | acceptor_gain | 1.0000 |
| 19:19224020:GGTGT:G | acceptor_gain | 1.0000 |
| 19:19224146:G:GT | donor_gain | 1.0000 |
| 19:19224165:A:AG | donor_gain | 1.0000 |
| 19:19224191:GTTCG:G | donor_gain | 1.0000 |
| 19:19224302:TCA:T | acceptor_loss | 1.0000 |
| 19:19224303:CAGGT:C | acceptor_loss | 1.0000 |
| 19:19224305:GGT:G | acceptor_gain | 1.0000 |
| 19:19224394:G:GT | donor_gain | 1.0000 |
| 19:19224429:GGGGG:G | donor_gain | 1.0000 |
| 19:19224430:GGGG:G | donor_gain | 1.0000 |
| 19:19224430:GGGGG:G | donor_gain | 1.0000 |
| 19:19224431:GGG:G | donor_gain | 1.0000 |
| 19:19224431:GGGG:G | donor_gain | 1.0000 |
| 19:19224432:GGG:G | donor_gain | 1.0000 |
| 19:19225271:G:GA | donor_loss | 1.0000 |
| 19:19225272:T:A | donor_loss | 1.0000 |
| 19:19226481:CACA:C | acceptor_loss | 1.0000 |
| 19:19226482:ACAG:A | acceptor_loss | 1.0000 |
| 19:19226483:CA:C | acceptor_loss | 1.0000 |
| 19:19226484:A:AG | acceptor_gain | 1.0000 |
| 19:19226484:A:C | acceptor_loss | 1.0000 |
AlphaMissense
8592 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:19224173:T:A | W210R | 1.000 |
| 19:19224173:T:C | W210R | 1.000 |
| 19:19224175:G:C | W210C | 1.000 |
| 19:19224175:G:T | W210C | 1.000 |
| 19:19238329:G:C | W1109C | 1.000 |
| 19:19238329:G:T | W1109C | 1.000 |
| 19:19240667:G:C | W1158C | 1.000 |
| 19:19240667:G:T | W1158C | 1.000 |
| 19:19245405:G:C | W1195C | 1.000 |
| 19:19245405:G:T | W1195C | 1.000 |
| 19:19219073:T:A | W78R | 0.999 |
| 19:19219073:T:C | W78R | 0.999 |
| 19:19219075:G:C | W78C | 0.999 |
| 19:19219075:G:T | W78C | 0.999 |
| 19:19224090:G:A | C182Y | 0.999 |
| 19:19224091:C:G | C182W | 0.999 |
| 19:19224129:T:C | L195P | 0.999 |
| 19:19224161:T:A | C206S | 0.999 |
| 19:19224161:T:C | C206R | 0.999 |
| 19:19224162:G:A | C206Y | 0.999 |
| 19:19224162:G:C | C206S | 0.999 |
| 19:19224162:G:T | C206F | 0.999 |
| 19:19224163:T:G | C206W | 0.999 |
| 19:19224177:T:C | L211P | 0.999 |
| 19:19224334:T:A | C227S | 0.999 |
| 19:19224334:T:C | C227R | 0.999 |
| 19:19224335:G:C | C227S | 0.999 |
| 19:19224404:A:T | D250V | 0.999 |
| 19:19224414:C:G | C253W | 0.999 |
| 19:19225089:G:C | W297C | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000003668 (19:19224827 C>G,T), RS1000047324 (19:19214450 G>T), RS1000189112 (19:19218828 TA>T,TAA), RS1000225425 (19:19250084 A>G), RS1000236719 (19:19225379 T>A), RS1000260102 (19:19212838 A>G,T), RS1000288272 (19:19231970 A>G), RS1000289637 (19:19213052 G>A,T), RS1000346913 (19:19246899 G>A), RS1000560999 (19:19218636 C>G), RS1000587004 (19:19225765 C>T), RS1000614581 (19:19243256 G>A), RS1000641519 (19:19213220 G>T), RS1000650841 (19:19224951 C>A,G,T), RS1000707424 (19:19235586 T>TTA)
Disease associations
OMIM: gene MIM:600826 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
27 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000132_3 | LDL cholesterol | 3.000000e-09 |
| GCST000139_9 | Triglycerides | 3.000000e-09 |
| GCST000282_3 | LDL cholesterol | 3.000000e-06 |
| GCST000285_13 | Cholesterol, total | 2.000000e-15 |
| GCST000286_11 | Triglycerides | 4.000000e-11 |
| GCST000287_4 | LDL cholesterol | 2.000000e-08 |
| GCST000289_5 | Triglycerides | 3.000000e-06 |
| GCST000758_7 | Triglycerides | 2.000000e-29 |
| GCST000759_15 | LDL cholesterol | 7.000000e-22 |
| GCST000760_8 | Cholesterol, total | 3.000000e-38 |
| GCST000985_1 | Bipolar disorder | 2.000000e-09 |
| GCST002149_11 | Schizophrenia | 3.000000e-09 |
| GCST002385_2 | Bipolar disorder | 9.000000e-08 |
| GCST002539_89 | Schizophrenia | 4.000000e-10 |
| GCST003302_4 | Cholesterol, total | 1.000000e-13 |
| GCST003303_3 | LDL cholesterol | 2.000000e-08 |
| GCST003678_5 | C-reactive protein levels or total cholesterol levels (pleiotropy) | 1.000000e-35 |
| GCST003679_18 | C-reactive protein levels or LDL-cholesterol levels (pleiotropy) | 7.000000e-21 |
| GCST005308_7 | Nonalcoholic fatty liver disease | 2.000000e-08 |
| GCST006803_88 | Schizophrenia | 7.000000e-12 |
| GCST008103_10 | Bipolar disorder | 1.000000e-09 |
| GCST008115_2 | Bipolar I disorder | 3.000000e-09 |
| GCST008116_4 | Bipolar II disorder | 4.000000e-06 |
| GCST010002_52 | Refractive error | 4.000000e-29 |
| GCST010703_335 | Brain morphology (MOSTest) | 3.000000e-10 |
| GCST011102_22 | Bipolar disorder | 5.000000e-10 |
| GCST90002400_276 | Plateletcrit | 4.000000e-09 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004458 | C-reactive protein measurement |
| EFO:0009963 | bipolar I disorder |
| EFO:0009964 | bipolar II disorder |
| EFO:0004346 | neuroimaging measurement |
| EFO:0007985 | platelet crit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression | 6 |
| trichostatin A | decreases expression, affects cotreatment | 3 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| azoxystrobin | decreases expression | 1 |
| deguelin | decreases expression | 1 |
| fenpyroximate | decreases expression | 1 |
| 4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| belinostat | decreases expression | 1 |
| thifluzamide | decreases expression | 1 |
| abrine | increases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| Antimycin A | decreases expression | 1 |
| Arsenic | increases methylation | 1 |
| Arsenicals | increases methylation | 1 |
| Phenytoin | increases expression | 1 |
| Potassium Dichromate | increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Tretinoin | 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): metabolic dysfunction-associated steatotic liver disease