CSPG5
gene geneOn this page
Also known as NGC
Summary
CSPG5 (chondroitin sulfate proteoglycan 5, HGNC:2467) is a protein-coding gene on chromosome 3p21.31, encoding Chondroitin sulfate proteoglycan 5 (O95196). May function as a growth and differentiation factor involved in neuritogenesis.
The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 10675 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 94 total
- MANE Select transcript:
NM_006574
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2467 |
| Approved symbol | CSPG5 |
| Name | chondroitin sulfate proteoglycan 5 |
| Location | 3p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NGC |
| Ensembl gene | ENSG00000114646 |
| Ensembl biotype | protein_coding |
| OMIM | 606775 |
| Entrez | 10675 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000264723, ENST00000383738, ENST00000456150, ENST00000465441, ENST00000610462
RefSeq mRNA: 5 — MANE Select: NM_006574
NM_001206942, NM_001206943, NM_001206944, NM_001206945, NM_006574
CCDS: CCDS2757, CCDS56252, CCDS56253, CCDS74930
Canonical transcript exons
ENST00000264723 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000750365 | 47576833 | 47577928 |
| ENSE00001206522 | 47569152 | 47569227 |
| ENSE00001206524 | 47572686 | 47572874 |
| ENSE00003845836 | 47562238 | 47562761 |
| ENSE00003845934 | 47578597 | 47578865 |
Expression profiles
Bgee: expression breadth ubiquitous, 201 present calls, max score 99.35.
FANTOM5 (CAGE): breadth broad, TPM avg 1.7536 / max 106.8560, expressed in 345 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 42049 | 1.2209 | 287 |
| 42048 | 0.2765 | 88 |
| 42050 | 0.1969 | 89 |
| 42051 | 0.0593 | 42 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.35 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 98.11 | gold quality |
| frontal pole | UBERON:0002795 | 98.10 | gold quality |
| retina | UBERON:0000966 | 98.09 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.04 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 97.86 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 97.67 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 97.50 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.25 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.21 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 97.15 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.07 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 96.99 | gold quality |
| temporal lobe | UBERON:0001871 | 96.88 | gold quality |
| amygdala | UBERON:0001876 | 96.78 | gold quality |
| postcentral gyrus | UBERON:0002581 | 96.68 | gold quality |
| occipital lobe | UBERON:0002021 | 96.67 | gold quality |
| parietal lobe | UBERON:0001872 | 96.58 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 96.09 | gold quality |
| nucleus accumbens | UBERON:0001882 | 96.07 | gold quality |
| prefrontal cortex | UBERON:0000451 | 96.03 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.78 | gold quality |
| frontal cortex | UBERON:0001870 | 95.70 | gold quality |
| cerebral cortex | UBERON:0000956 | 95.64 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.62 | gold quality |
| Ammon’s horn | UBERON:0001954 | 95.60 | gold quality |
| telencephalon | UBERON:0001893 | 95.59 | gold quality |
| neocortex | UBERON:0001950 | 95.58 | gold quality |
| paraflocculus | UBERON:0005351 | 95.43 | gold quality |
| cingulate cortex | UBERON:0003027 | 95.41 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 23.59 |
| E-GEOD-135922 | yes | 14.27 |
| E-ANND-3 | no | 2.10 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
36 targeting CSPG5, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-548AV-5P | 99.60 | 70.84 | 2107 |
| HSA-MIR-548K | 99.60 | 70.84 | 2107 |
| HSA-MIR-486-5P | 99.51 | 70.39 | 707 |
| HSA-MIR-8054 | 99.48 | 70.81 | 2084 |
| HSA-MIR-2115-3P | 99.31 | 69.68 | 2026 |
| HSA-MIR-520E-5P | 99.27 | 68.90 | 1513 |
| HSA-MIR-3973 | 99.20 | 69.19 | 1990 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-224-3P | 98.91 | 68.42 | 1815 |
| HSA-MIR-522-3P | 98.91 | 68.56 | 1817 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-4659A-5P | 98.03 | 66.42 | 819 |
| HSA-MIR-4659B-5P | 98.03 | 66.84 | 979 |
| HSA-MIR-6791-3P | 97.45 | 64.31 | 1123 |
| HSA-MIR-6829-3P | 97.45 | 64.31 | 1137 |
Literature-anchored findings (GeneRIF, showing 4)
- NGC IV, which was first found in the present study, had the shortest cytoplasmic domain among the four variants (PMID:16299773)
- neuroglycan C is a novel component of midkine receptors involved in process elongation (PMID:16901907)
- results suggest that NGC may be a novel candidate gene, and neuregulin signaling pathways may play an important role in schizophrenia (PMID:19367581)
- Chondroitin sulfate proteoglycan-5 forms perisynaptic matrix assemblies in the adult rat cortex. (PMID:32653642)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cspg5a | ENSDARG00000069981 |
| danio_rerio | cspg5b | ENSDARG00000099793 |
| mus_musculus | Cspg5 | ENSMUSG00000032482 |
| rattus_norvegicus | Cspg5 | ENSRNOG00000020833 |
Protein
Protein identifiers
Chondroitin sulfate proteoglycan 5 — O95196 (reviewed: O95196)
Alternative names: Acidic leucine-rich EGF-like domain-containing brain protein, Neuroglycan C
All UniProt accessions (2): O95196, A0A087WUT8
UniProt curated annotations — full annotation on UniProt →
Function. May function as a growth and differentiation factor involved in neuritogenesis. May induce ERBB3 activation.
Subunit / interactions. Binds TNR and probably TNC. Interacts with ERBB3 and GOPC. Interacts with MDK; this interaction is independent of the presence of chondroitin sulfate chains and promotes elongation of oligodendroglial precursor-like cells.
Subcellular location. Cell membrane. Synaptic cell membrane. Endoplasmic reticulum membrane. Golgi apparatus membrane. Cell surface. Secreted.
Tissue specificity. Detected in cerebrospinal fluid (at protein level). Detected in urine (at protein level). Expressed in brain (at protein level).
Post-translational modifications. N-glycosylated. O-glycosylated; contains chondroitin sulfate glycans. Part-time proteoglycan, expressed in part as a proteoglycan exhibiting chondroitin sulfate glycans and in part as a non-proteoglycan form. The relative amount of both forms depends on tissues and tissue maturation. Phosphorylated; in intracellular and extracellular parts.
Miscellaneous. Different forms of various molecular weight have been observed. Such forms are possibly due to different levels of glycosylation, phosphorylation and/or protein cleavage.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95196-1 | 1 | yes |
| O95196-2 | 2, CSPG5-I | |
| O95196-3 | 3, CSPG5-II |
RefSeq proteins (5): NP_001193871, NP_001193872, NP_001193873, NP_001193874, NP_006565* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009505 | Neural_ProG_Cyt | Domain |
| IPR010555 | CSPG5_S_attach_dom | Domain |
Pfam: PF06566, PF06567
UniProt features (28 total): region of interest 6, modified residue 4, glycosylation site 4, disulfide bond 3, topological domain 2, splice variant 2, sequence variant 2, signal peptide 1, chain 1, compositionally biased region 1, transmembrane region 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95196-F1 | 52.52 | 0.11 |
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 (4): 467, 475, 483, 543
Disulfide bonds (3): 374–387, 381–397, 399–412
Glycosylation sites (4): 38, 57, 117, 165
Function
Pathways and Gene Ontology
Reactome pathways
10 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-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: 186 (showing top):
GNF2_RTN1, BROWNE_HCMV_INFECTION_8HR_UP, GOBP_GLIAL_CELL_DEVELOPMENT, GOBP_REGULATION_OF_EXOCYTOSIS, GOCC_CELL_SURFACE, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_REGENERATION, GOBP_NEUROGENESIS, GOMF_GROWTH_FACTOR_ACTIVITY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_RESPONSE_TO_AXON_INJURY, HASLINGER_B_CLL_WITH_11Q23_DELETION, GOBP_POSITIVE_REGULATION_OF_SUBSTRATE_ADHESION_DEPENDENT_CELL_SPREADING, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT
GO Biological Process (10): cytoskeleton organization (GO:0007010), nervous system development (GO:0007399), intracellular transport (GO:0046907), cell projection morphogenesis (GO:0048858), glial cell projection elongation (GO:0106091), positive regulation of substrate adhesion-dependent cell spreading (GO:1900026), regulation of synaptic vesicle exocytosis (GO:2000300), signal transduction (GO:0007165), cell differentiation (GO:0030154), modulation of chemical synaptic transmission (GO:0050804)
GO Molecular Function (2): growth factor activity (GO:0008083), protein binding (GO:0005515)
GO Cellular Component (16): Golgi membrane (GO:0000139), extracellular region (GO:0005576), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), Golgi lumen (GO:0005796), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), Golgi-associated vesicle membrane (GO:0030660), lysosomal lumen (GO:0043202), synapse (GO:0045202), postsynaptic membrane (GO:0045211), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), endoplasmic reticulum (GO:0005783), synaptic membrane (GO:0097060)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Diseases associated with glycosaminoglycan metabolism | 6 |
| Chondroitin sulfate/dermatan sulfate metabolism | 3 |
| Glycosaminoglycan metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| synapse | 3 |
| Golgi apparatus | 2 |
| bounding membrane of organelle | 2 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| organelle organization | 1 |
| system development | 1 |
| intracellular anatomical structure | 1 |
| transport | 1 |
| cellular localization | 1 |
| establishment of localization in cell | 1 |
| cell morphogenesis | 1 |
| anatomical structure morphogenesis | 1 |
| cell projection organization | 1 |
| glial cell development | 1 |
| cell projection morphogenesis | 1 |
| positive regulation of cell-substrate adhesion | 1 |
| substrate adhesion-dependent cell spreading | 1 |
| regulation of substrate adhesion-dependent cell spreading | 1 |
| synaptic vesicle exocytosis | 1 |
| regulation of neurotransmitter secretion | 1 |
| regulation of regulated secretory pathway | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| cellular developmental process | 1 |
| chemical synaptic transmission | 1 |
| regulation of trans-synaptic signaling | 1 |
| receptor ligand activity | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| intracellular organelle lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1036 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CSPG5 | LACRT | Q9GZZ8 | 911 |
| CSPG5 | FBLN2 | P98095 | 790 |
| CSPG5 | PTN | P21246 | 605 |
| CSPG5 | PTPRZ1 | P23471 | 594 |
| CSPG5 | MDK | P21741 | 579 |
| CSPG5 | PHF6 | Q8IWS0 | 525 |
| CSPG5 | NCAN | O14594 | 519 |
| CSPG5 | ERBB3 | P21860 | 512 |
| CSPG5 | GOPC | Q9HD26 | 512 |
| CSPG5 | EGF | P01133 | 499 |
| CSPG5 | RTN4R | Q9BZR6 | 461 |
| CSPG5 | BCAN | Q96GW7 | 449 |
| CSPG5 | NID1 | P14543 | 447 |
| CSPG5 | MFAP3L | O75121 | 447 |
| CSPG5 | PAK1IP1 | Q9NWT1 | 432 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CSPG5 | Gopc | psi-mi:“MI:0915”(physical association) | 0.580 |
| DLK1 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| COLEC12 | CSPG5 | psi-mi:“MI:0914”(association) | 0.530 |
| HIRA | CSPG5 | psi-mi:“MI:0914”(association) | 0.530 |
| CSPG5 | HIRA | psi-mi:“MI:0914”(association) | 0.530 |
| APP | CSPG5 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PTPN2 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.350 |
| CAPZB | ENAH | psi-mi:“MI:0914”(association) | 0.350 |
| DIAPH1 | CSPG5 | psi-mi:“MI:0914”(association) | 0.350 |
| SRP14 | EIF3F | psi-mi:“MI:0914”(association) | 0.350 |
| SCN4A | C2CD4B | psi-mi:“MI:0914”(association) | 0.350 |
| NOG | TCAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| CSPG5 | TCAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| MLX | BACH1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A7 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (40): CSPG5 (Affinity Capture-MS), CSPG5 (Affinity Capture-MS), CSPG5 (Affinity Capture-MS), CSPG5 (Affinity Capture-MS), CSPG5 (Affinity Capture-MS), CSPG5 (Affinity Capture-MS), CSPG5 (Reconstituted Complex), CSPG5 (Affinity Capture-Western), CSPG5 (Two-hybrid), GOPC (Two-hybrid), HS2ST1 (Affinity Capture-MS), CSPG5 (Affinity Capture-MS), SCAMP1 (Affinity Capture-MS), GALNT16 (Affinity Capture-MS), LMBR1 (Affinity Capture-MS)
ESM2 similar proteins: A1KXC4, B2RQL2, B2RTN2, O35188, O55145, O60667, O95196, P06484, P07141, P16382, P24394, P25918, P78423, Q29RT9, Q3SYS8, Q58CT8, Q5BK39, Q5FVQ5, Q5M871, Q5U2P6, Q63257, Q64322, Q68CR7, Q68DV7, Q6AXU5, Q6P1B3, Q6PNM1, Q6RFH4, Q71M36, Q863Z5, Q8BHB3, Q8BHE4, Q8BHW6, Q8BSU2, Q8C708, Q8IXW0, Q8JZQ0, Q8K0B3, Q8NET5, Q8R183
Diamond homologs: O95196, P70628, Q1XI86, Q71M36, Q80XH2, Q8JIR8, Q9BZV3, Q9DF69, Q9ERQ6, Q17R60, Q8R1W8, Q9ET62, Q9GMS5, P28826, Q16820, Q61847
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
94 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 86 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1023 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:47572681:CTCA:C | donor_gain | 1.0000 |
| 3:47572684:A:AC | donor_gain | 1.0000 |
| 3:47572685:C:CA | donor_gain | 1.0000 |
| 3:47572695:CGCAG:C | donor_gain | 1.0000 |
| 3:47572699:G:C | donor_gain | 1.0000 |
| 3:47569150:A:AC | donor_gain | 0.9900 |
| 3:47569151:C:CC | donor_gain | 0.9900 |
| 3:47569232:T:C | acceptor_gain | 0.9900 |
| 3:47569232:T:TC | acceptor_gain | 0.9900 |
| 3:47572679:GACT:G | donor_loss | 0.9900 |
| 3:47572680:A:AC | donor_gain | 0.9900 |
| 3:47572680:ACTC:A | donor_loss | 0.9900 |
| 3:47572681:C:CC | donor_gain | 0.9900 |
| 3:47572683:C:CC | donor_loss | 0.9900 |
| 3:47572684:ACT:A | donor_loss | 0.9900 |
| 3:47572685:CT:C | donor_gain | 0.9900 |
| 3:47572685:CTTG:C | donor_gain | 0.9900 |
| 3:47577925:CGCG:C | acceptor_gain | 0.9900 |
| 3:47577927:CG:C | acceptor_gain | 0.9900 |
| 3:47577928:GCTG:G | acceptor_loss | 0.9900 |
| 3:47577929:C:CC | acceptor_gain | 0.9900 |
| 3:47577929:C:G | acceptor_loss | 0.9900 |
| 3:47577930:T:C | acceptor_loss | 0.9900 |
| 3:47577936:C:CT | acceptor_gain | 0.9900 |
| 3:47569224:TTTG:T | acceptor_gain | 0.9800 |
| 3:47569228:C:CC | acceptor_gain | 0.9800 |
| 3:47572685:CTTGG:C | donor_gain | 0.9800 |
| 3:47572874:CCT:C | acceptor_loss | 0.9800 |
| 3:47572875:CTGCA:C | acceptor_loss | 0.9800 |
| 3:47577924:ACGCG:A | acceptor_gain | 0.9800 |
AlphaMissense
3499 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:47572850:C:A | W406C | 1.000 |
| 3:47572850:C:G | W406C | 1.000 |
| 3:47572812:A:C | F419C | 0.999 |
| 3:47572832:G:C | C412W | 0.999 |
| 3:47572833:C:A | C412F | 0.999 |
| 3:47572833:C:G | C412S | 0.999 |
| 3:47572833:C:T | C412Y | 0.999 |
| 3:47572834:A:G | C412R | 0.999 |
| 3:47572834:A:T | C412S | 0.999 |
| 3:47572872:C:G | C399S | 0.999 |
| 3:47572873:A:G | C399R | 0.999 |
| 3:47572873:A:T | C399S | 0.999 |
| 3:47576835:G:C | C397W | 0.999 |
| 3:47576836:C:G | C397S | 0.999 |
| 3:47576836:C:T | C397Y | 0.999 |
| 3:47576837:A:G | C397R | 0.999 |
| 3:47576837:A:T | C397S | 0.999 |
| 3:47576865:G:C | C387W | 0.999 |
| 3:47576866:C:G | C387S | 0.999 |
| 3:47576867:A:G | C387R | 0.999 |
| 3:47576867:A:T | C387S | 0.999 |
| 3:47576883:A:C | C381W | 0.999 |
| 3:47576884:C:G | C381S | 0.999 |
| 3:47576884:C:T | C381Y | 0.999 |
| 3:47576885:A:G | C381R | 0.999 |
| 3:47576885:A:T | C381S | 0.999 |
| 3:47576905:C:T | C374Y | 0.999 |
| 3:47572719:A:G | L450P | 0.998 |
| 3:47572728:A:G | L447P | 0.998 |
| 3:47572733:C:A | K445N | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000195787 (3:47564796 T>C), RS1000215023 (3:47572558 G>A,T), RS1000247418 (3:47572147 C>T), RS1000283650 (3:47578344 G>C,T), RS1000291210 (3:47563171 G>T), RS1000311574 (3:47576948 G>A,C,T), RS1000320632 (3:47576615 C>G,T), RS1000546612 (3:47571792 G>A), RS1000576965 (3:47570213 G>A), RS1000694659 (3:47578175 C>A), RS1000938529 (3:47563438 C>T), RS1000966172 (3:47570885 A>C), RS1001057040 (3:47564992 T>C), RS1001072814 (3:47578142 A>C,G), RS1001298900 (3:47576477 G>T)
Disease associations
OMIM: gene MIM:606775 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008129_92 | Body mass index | 2.000000e-08 |
| GCST011703_57 | Smoking initiation | 3.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0005670 | smoking initiation |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| 4-phenylbutyric acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Amphotericin B | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Coumestrol | increases expression, affects cotreatment | 1 |
| Lead | affects expression | 1 |
| Mercury | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Progesterone | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Thapsigargin | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9CK | Ubigene HEK293 CSPG5 KO | Transformed cell line | Female |
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.