BCAN
gene geneOn this page
Also known as BEHABMGC13038CSPG7
Summary
BCAN (brevican, HGNC:23059) is a protein-coding gene on chromosome 1q23.1, encoding Brevican core protein (Q96GW7). May play a role in the terminally differentiating and the adult nervous system during postnatal development.
This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 63827 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 149 total — 1 likely-pathogenic
- MANE Select transcript:
NM_021948
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23059 |
| Approved symbol | BCAN |
| Name | brevican |
| Location | 1q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BEHAB, MGC13038, CSPG7 |
| Ensembl gene | ENSG00000132692 |
| Ensembl biotype | protein_coding |
| OMIM | 600347 |
| Entrez | 63827 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000329117, ENST00000361588, ENST00000424639, ENST00000441358, ENST00000457777, ENST00000479949, ENST00000491823, ENST00000496038, ENST00000884916, ENST00000884917, ENST00000884918, ENST00000884919, ENST00000916621
RefSeq mRNA: 2 — MANE Select: NM_021948
NM_021948, NM_198427
CCDS: CCDS1149, CCDS1150
Canonical transcript exons
ENST00000329117 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001802024 | 156642117 | 156642275 |
| ENSE00002327966 | 156659027 | 156659528 |
| ENSE00002360284 | 156656938 | 156657096 |
| ENSE00002407509 | 156656282 | 156656389 |
| ENSE00002429428 | 156657675 | 156657757 |
| ENSE00002692373 | 156652248 | 156652892 |
| ENSE00003507644 | 156651456 | 156651689 |
| ENSE00003514828 | 156648568 | 156648861 |
| ENSE00003520044 | 156647983 | 156648110 |
| ENSE00003541316 | 156658127 | 156658271 |
| ENSE00003591119 | 156658543 | 156658733 |
| ENSE00003706936 | 156646047 | 156646145 |
| ENSE00003711006 | 156646801 | 156647175 |
| ENSE00003787078 | 156647508 | 156647682 |
Expression profiles
Bgee: expression breadth ubiquitous, 192 present calls, max score 98.91.
FANTOM5 (CAGE): breadth broad, TPM avg 12.0368 / max 1217.2312, expressed in 283 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5753 | 7.1272 | 243 |
| 5754 | 2.4326 | 165 |
| 5755 | 1.4867 | 145 |
| 5752 | 0.9779 | 112 |
| 5756 | 0.0124 | 2 |
Top tissues by expression
274 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 98.91 | gold quality |
| amygdala | UBERON:0001876 | 97.84 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.17 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.14 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.85 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.84 | gold quality |
| caudate nucleus | UBERON:0001873 | 96.77 | gold quality |
| putamen | UBERON:0001874 | 96.25 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.05 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.27 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.24 | gold quality |
| hypothalamus | UBERON:0001898 | 95.09 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.48 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.10 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.86 | gold quality |
| neocortex | UBERON:0001950 | 93.40 | gold quality |
| telencephalon | UBERON:0001893 | 93.30 | gold quality |
| spinal cord | UBERON:0002240 | 93.28 | gold quality |
| frontal cortex | UBERON:0001870 | 93.24 | gold quality |
| Ammon’s horn | UBERON:0001954 | 93.17 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.92 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.90 | gold quality |
| substantia nigra | UBERON:0002038 | 92.77 | gold quality |
| cerebral cortex | UBERON:0000956 | 92.51 | gold quality |
| temporal lobe | UBERON:0001871 | 92.35 | gold quality |
| cerebellum | UBERON:0002037 | 91.66 | gold quality |
| midbrain | UBERON:0001891 | 91.55 | gold quality |
| forebrain | UBERON:0001890 | 90.81 | gold quality |
| brain | UBERON:0000955 | 90.75 | gold quality |
| corpus callosum | UBERON:0002336 | 89.03 | gold quality |
Single-cell (SCXA)
Detected in 9 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-93593 | yes | 2147.28 |
| E-MTAB-9435 | yes | 1896.92 |
| E-MTAB-8894 | yes | 1388.71 |
| E-HCAD-56 | yes | 701.46 |
| E-GEOD-84465 | yes | 27.72 |
| E-HCAD-25 | yes | 26.40 |
| E-MTAB-8142 | yes | 20.03 |
| E-ENAD-20 | no | 1041.59 |
| E-ANND-3 | no | 1.96 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting BCAN, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-1912-3P | 99.32 | 67.40 | 936 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-3125 | 99.14 | 68.49 | 2269 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-1295B-5P | 99.03 | 67.50 | 810 |
| HSA-MIR-3916 | 98.99 | 68.04 | 2155 |
| HSA-MIR-6859-5P | 98.99 | 68.07 | 2049 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-548Q | 98.71 | 65.35 | 563 |
| HSA-MIR-4436B-3P | 98.25 | 65.26 | 1494 |
| HSA-MIR-6735-5P | 98.24 | 65.36 | 1488 |
| HSA-MIR-7843-5P | 98.12 | 65.26 | 1421 |
| HSA-MIR-4632-5P | 97.82 | 65.38 | 1470 |
| HSA-MIR-6879-5P | 97.77 | 65.52 | 1521 |
| HSA-MIR-7106-3P | 97.33 | 65.33 | 644 |
| HSA-MIR-1291 | 96.28 | 65.89 | 1224 |
| HSA-MIR-6834-5P | 96.25 | 64.88 | 823 |
Literature-anchored findings (GeneRIF, showing 9)
- gene locus at chromosome 1q21-23. (PMID:11873941)
- Authors describe the expression of BEHAB/brevican in human brain and characterize two novel glioma-specific isoforms which are generated by differential glycosylation and are absent from normal adult brain and other neuropathologies. (PMID:16061654)
- These results demonstrate for the first time that ADAMTS-5 is capable of degrading brevican and is overexpressed in glioblastoma cells, and suggest that ADAMTS-5 may play a role in glioma cell invasion through the cleavage of brevican. (PMID:16133547)
- The proteoglycan brevican binds to fibronectin after proteolytic cleavage and promotes glioma cell motility (PMID:18611854)
- High Brevican is associated with the invasive phenotype of low-grade astrocytoma. (PMID:21997179)
- Data indicate that median methylation levels of BCAN, HOXD1, KCTD8, KLF11, NXPH1, POU4F1, SIM1, and TCF7L1 were >/=30% higher than in normal samples, representing potential biomarkers for tumor diagnosis. (PMID:22930747)
- The CNS-specific proteoglycan, brevican, and its ADAMTS4-cleaved fragment show differential serological levels in Alzheimer’s disease, other types of dementia and non-demented controls: A cross-sectional study. (PMID:32559242)
- The Role of BEHAB/Brevican in the Tumor Microenvironment: Mediating Glioma Cell Invasion and Motility. (PMID:32845505)
- Serum Brevican as a Biomarker of Cerebrovascular Disease in an Elderly Cognitively Impaired Cohort. (PMID:38254675)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bcan | ENSDARG00000099412 |
| mus_musculus | Bcan | ENSMUSG00000004892 |
| rattus_norvegicus | Bcan | ENSRNOG00000018798 |
Paralogs (7): VCAN (ENSG00000038427), NCAN (ENSG00000130287), HAPLN2 (ENSG00000132702), HAPLN3 (ENSG00000140511), HAPLN1 (ENSG00000145681), ACAN (ENSG00000157766), HAPLN4 (ENSG00000187664)
Protein
Protein identifiers
Brevican core protein — Q96GW7 (reviewed: Q96GW7)
Alternative names: Brain-enriched hyaluronan-binding protein, Chondroitin sulfate proteoglycan 7
All UniProt accessions (6): Q96GW7, Q5T3I6, Q5T3I7, Q5T3I8, V9GXZ8, V9GY88
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in the terminally differentiating and the adult nervous system during postnatal development. Could stabilize interactions between hyaluronan (HA) and brain proteoglycans.
Subunit / interactions. Interacts with TNR.
Subcellular location. Secreted Secreted. Extracellular space. Extracellular matrix Membrane.
Tissue specificity. Expressed in the retina, specifically in the inner nuclear layer, inner plexiform layer and ganglion cell layer (at protein level). Detected in cerebrospinal fluid (at protein level). Detected in urine (at protein level).
Post-translational modifications. O-glycosylated; contains chondroitin sulfate. O-glycosylated with a core 1 or possibly core 8 glycan.
Similarity. Belongs to the aggrecan/versican proteoglycan family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96GW7-1 | 1 | yes |
| Q96GW7-2 | 2 |
RefSeq proteins (2): NP_068767, NP_940819 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000436 | Sushi_SCR_CCP_dom | Domain |
| IPR000538 | Link_dom | Domain |
| IPR000742 | EGF | Domain |
| IPR001304 | C-type_lectin-like | Domain |
| IPR003006 | Ig/MHC_CS | Conserved_site |
| 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 |
| 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 (39 total): disulfide bond 13, domain 6, glycosylation site 5, region of interest 4, compositionally biased region 2, splice variant 2, sequence variant 2, signal peptide 1, chain 1, modified residue 1, sequence conflict 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96GW7-F1 | 70.06 | 0.42 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2): 418, 646
Disulfide bonds (13): 57–137, 179–250, 203–224, 277–352, 301–322, 650–661, 655–670, 672–681, 688–699, 716–808, 784–800, 815–858, 844–871
Glycosylation sites (5): 130, 337, 418, 905, 906
Function
Pathways and Gene Ontology
Reactome pathways
12 pathways
| ID | Pathway |
|---|---|
| R-HSA-1474228 | Degradation of the extracellular matrix |
| 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-4420332 | Defective B3GALT6 causes EDSP2 and SEMDJL1 |
MSigDB gene sets: 126 (showing top):
BENPORATH_ES_WITH_H3K27ME3, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_FOREBRAIN_DEVELOPMENT, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_HIPPOCAMPUS_DEVELOPMENT, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_PALLIUM_DEVELOPMENT, GOBP_HEAD_DEVELOPMENT, GOMF_GLYCOSAMINOGLYCAN_BINDING, GOBP_TELENCEPHALON_DEVELOPMENT, EBAUER_MYOGENIC_TARGETS_OF_PAX3_FOXO1_FUSION, GOBP_LIMBIC_SYSTEM_DEVELOPMENT
GO Biological Process (5): skeletal system development (GO:0001501), cell adhesion (GO:0007155), central nervous system development (GO:0007417), hippocampus development (GO:0021766), synapse maturation (GO:0060074)
GO Molecular Function (3): hyaluronic acid binding (GO:0005540), carbohydrate binding (GO:0030246), protein binding (GO:0005515)
GO Cellular Component (10): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796), lysosomal lumen (GO:0043202), synapse (GO:0045202), perineuronal net (GO:0072534), side of membrane (GO:0098552), glutamatergic synapse (GO:0098978), membrane (GO:0016020), extracellular matrix (GO:0031012)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Diseases associated with glycosaminoglycan metabolism | 6 |
| Chondroitin sulfate/dermatan sulfate metabolism | 3 |
| Extracellular matrix organization | 2 |
| Glycosaminoglycan metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| system development | 2 |
| nervous system development | 2 |
| binding | 2 |
| cellular process | 1 |
| pallium development | 1 |
| limbic system development | 1 |
| anatomical structure development | 1 |
| developmental maturation | 1 |
| synapse organization | 1 |
| carboxylic acid binding | 1 |
| Golgi apparatus | 1 |
| intracellular organelle lumen | 1 |
| lysosome | 1 |
| vacuolar lumen | 1 |
| cell junction | 1 |
| perisynaptic extracellular matrix | 1 |
| membrane | 1 |
| leaflet of membrane bilayer | 1 |
| synapse | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
1886 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BCAN | PTPRZ1 | P23471 | 988 |
| BCAN | ACAN | P16112 | 983 |
| BCAN | VCAN | P13611 | 909 |
| BCAN | NCAN | O14594 | 908 |
| BCAN | NRCAM | Q92823 | 679 |
| BCAN | ADAMTS5 | Q9UNA0 | 669 |
| BCAN | FN1 | P02751 | 669 |
| BCAN | ADAMTS4 | O75173 | 667 |
| BCAN | SPTBN4 | Q9H254 | 655 |
| BCAN | LUM | P51884 | 650 |
| BCAN | FMOD | Q06828 | 650 |
| BCAN | PVALB | P20472 | 629 |
| BCAN | HAPLN4 | Q86UW8 | 617 |
| BCAN | CD44 | P16070 | 617 |
| BCAN | ADAMTS8 | Q9UP79 | 614 |
| BCAN | NFASC | O94856 | 614 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| APLP2 | BCAN | psi-mi:“MI:0915”(physical association) | 0.560 |
| CSNK1D | BCAN | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCAN | LYN | psi-mi:“MI:0915”(physical association) | 0.560 |
| APP | BCAN | psi-mi:“MI:0915”(physical association) | 0.560 |
| APP | BCAN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| BCAN | psi-mi:“MI:0915”(physical association) | 0.370 | |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| BCAN | VCAN | psi-mi:“MI:0914”(association) | 0.350 |
| BCAN | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| BCAN | LAMA5 | psi-mi:“MI:0914”(association) | 0.350 |
| BCAN | PCBD1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (37): FBXO11 (Affinity Capture-MS), VCAN (Affinity Capture-MS), ULK3 (Affinity Capture-MS), REPIN1 (Affinity Capture-MS), CCNYL1 (Affinity Capture-MS), VCAN (Affinity Capture-MS), ULK3 (Affinity Capture-MS), CCNYL1 (Affinity Capture-MS), FBLN2 (Reconstituted Complex), BCAN (Affinity Capture-MS), BCAN (Biochemical Activity), BCAN (Biochemical Activity), BCAN (Biochemical Activity), BCAN (Biochemical Activity), BCAN (Biochemical Activity)
ESM2 similar proteins: A1L0T3, A1L4H1, A6QNY1, D3YZF7, O95428, P28698, P30203, P55068, P55106, P59222, P98162, Q04756, Q14767, Q28019, Q28062, Q28256, Q28343, Q28670, Q3U515, Q4G0T1, Q5F378, Q5HZW5, Q61003, Q61361, Q6H9L7, Q6KF10, Q6PGE4, Q6QNF4, Q7TQH7, Q7Z4F1, Q86T13, Q86VR7, Q86VZ4, Q8BV57, Q8BZE1, Q8CB67, Q8VCP9, Q8WTU2, Q91V98, Q96DN2
Diamond homologs: A0ZT93, B0VXV2, B4XT08, B5U6Y6, B5U6Y7, C0HKZ7, O60449, P05140, P06027, P06734, P0DJL5, P10716, P13611, P14371, P20693, P34472, P55066, P55067, P81018, P81282, P81996, Q01758, Q02988, Q26627, Q28062, Q28670, Q28858, Q4PRD0, Q4TU93, Q4V885, Q61830, Q62059, Q64449, Q66S03, Q6X5S2, Q6X5S3, Q6X5S5, Q6X5S6, Q6X5S7, Q6X5S8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
149 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 132 |
| Likely benign | 8 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 149564 | GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1 | Likely pathogenic |
SpliceAI
2374 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:156646032:A:AG | acceptor_gain | 1.0000 |
| 1:156646032:AT:A | acceptor_gain | 1.0000 |
| 1:156646033:T:G | acceptor_gain | 1.0000 |
| 1:156646033:T:TA | acceptor_gain | 1.0000 |
| 1:156646041:T:TA | acceptor_gain | 1.0000 |
| 1:156646045:A:AG | acceptor_gain | 1.0000 |
| 1:156646046:G:GA | acceptor_gain | 1.0000 |
| 1:156646046:GC:G | acceptor_gain | 1.0000 |
| 1:156646046:GCC:G | acceptor_gain | 1.0000 |
| 1:156646046:GCCT:G | acceptor_gain | 1.0000 |
| 1:156646142:TCAGG:T | donor_loss | 1.0000 |
| 1:156646145:GGT:G | donor_loss | 1.0000 |
| 1:156646146:G:GA | donor_loss | 1.0000 |
| 1:156646146:G:GG | donor_gain | 1.0000 |
| 1:156647171:CAAAG:C | donor_loss | 1.0000 |
| 1:156647172:AAAGG:A | donor_loss | 1.0000 |
| 1:156647173:AAGGT:A | donor_loss | 1.0000 |
| 1:156647506:AGG:A | acceptor_gain | 1.0000 |
| 1:156647507:GGG:G | acceptor_gain | 1.0000 |
| 1:156647979:CTA:C | acceptor_loss | 1.0000 |
| 1:156647981:A:AC | acceptor_loss | 1.0000 |
| 1:156647981:A:AG | acceptor_gain | 1.0000 |
| 1:156647981:AG:A | acceptor_gain | 1.0000 |
| 1:156647982:G:A | acceptor_loss | 1.0000 |
| 1:156647982:G:GG | acceptor_gain | 1.0000 |
| 1:156647982:GG:G | acceptor_gain | 1.0000 |
| 1:156647982:GGT:G | acceptor_gain | 1.0000 |
| 1:156647982:GGTA:G | acceptor_gain | 1.0000 |
| 1:156647982:GGTAT:G | acceptor_gain | 1.0000 |
| 1:156648080:GATGT:G | donor_gain | 1.0000 |
AlphaMissense
5818 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:156647660:T:A | W207R | 1.000 |
| 1:156647660:T:C | W207R | 1.000 |
| 1:156647662:G:C | W207C | 1.000 |
| 1:156647662:G:T | W207C | 1.000 |
| 1:156648713:G:C | W305C | 1.000 |
| 1:156648713:G:T | W305C | 1.000 |
| 1:156658141:G:C | W769C | 1.000 |
| 1:156658141:G:T | W769C | 1.000 |
| 1:156646944:T:A | W79R | 0.999 |
| 1:156646944:T:C | W79R | 0.999 |
| 1:156646946:G:C | W79C | 0.999 |
| 1:156646946:G:T | W79C | 0.999 |
| 1:156647112:T:G | Y135D | 0.999 |
| 1:156647118:T:A | C137S | 0.999 |
| 1:156647118:T:C | C137R | 0.999 |
| 1:156647119:G:C | C137S | 0.999 |
| 1:156647577:G:A | C179Y | 0.999 |
| 1:156647648:T:A | C203S | 0.999 |
| 1:156647649:G:A | C203Y | 0.999 |
| 1:156647649:G:C | C203S | 0.999 |
| 1:156648011:T:A | C224S | 0.999 |
| 1:156648011:T:C | C224R | 0.999 |
| 1:156648012:G:A | C224Y | 0.999 |
| 1:156648012:G:C | C224S | 0.999 |
| 1:156648013:T:G | C224W | 0.999 |
| 1:156648090:G:A | C250Y | 0.999 |
| 1:156648091:T:G | C250W | 0.999 |
| 1:156648680:G:C | W294C | 0.999 |
| 1:156648680:G:T | W294C | 0.999 |
| 1:156648711:T:A | W305R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000147163 (1:156655957 T>C), RS1000166226 (1:156656727 G>C,T), RS1000277130 (1:156650834 T>A), RS1000329119 (1:156658322 G>C), RS1000429503 (1:156644536 T>A), RS1000595108 (1:156652196 G>A,T), RS1000734600 (1:156645818 G>A,T), RS1001108579 (1:156655049 G>T), RS1001365352 (1:156642626 CG>C), RS1001944369 (1:156659668 T>A,C), RS1001998526 (1:156659990 C>T), RS1002159081 (1:156653990 G>A,C,T), RS1002419375 (1:156641532 C>T), RS1002776771 (1:156641246 A>G), RS1003231751 (1:156648175 C>T)
Disease associations
OMIM: gene MIM:600347 | 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_46 | Blood protein levels | 6.000000e-12 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 2 |
| Benzo(a)pyrene | increases expression, affects methylation, decreases methylation | 2 |
| Valproic Acid | increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| aminomethylphosphonic acid (AMPA) | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| titanium dioxide | increases expression | 1 |
| arsenite | increases methylation | 1 |
| perfluorooctane sulfonic acid | increases expression | 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 |
| NSC 689534 | affects binding, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Cisplatin | affects expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Estradiol | increases expression | 1 |
| Lead | affects expression | 1 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 1 |
| Plant Extracts | decreases expression, affects cotreatment | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| 2,4-Dichlorophenoxyacetic Acid | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Asbestos, Crocidolite | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.