VWC2
gene geneOn this page
Also known as PSST739UNQ739
Summary
VWC2 (von Willebrand factor C domain containing 2, HGNC:30200) is a protein-coding gene on chromosome 7p12.2, encoding Brorin (Q2TAL6). BMP antagonist which may play a role in neural development.
This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.
Source: NCBI Gene 375567 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 61 total
- MANE Select transcript:
NM_198570
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30200 |
| Approved symbol | VWC2 |
| Name | von Willebrand factor C domain containing 2 |
| Location | 7p12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PSST739, UNQ739 |
| Ensembl gene | ENSG00000188730 |
| Ensembl biotype | protein_coding |
| OMIM | 611108 |
| Entrez | 375567 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 8 protein_coding
ENST00000340652, ENST00000855725, ENST00000855726, ENST00000855727, ENST00000855728, ENST00000855729, ENST00000855730, ENST00000855731
RefSeq mRNA: 1 — MANE Select: NM_198570
NM_198570
CCDS: CCDS5508
Canonical transcript exons
ENST00000340652 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001364704 | 49773638 | 49774113 |
| ENSE00001367427 | 49802711 | 49802840 |
| ENSE00001387358 | 49912034 | 49921950 |
| ENSE00001390308 | 49775333 | 49776131 |
Expression profiles
Bgee: expression breadth broad, 96 present calls, max score 80.55.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4097 / max 48.2534, expressed in 128 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 78609 | 0.2556 | 106 |
| 78610 | 0.0832 | 53 |
| 78611 | 0.0532 | 30 |
| 78612 | 0.0176 | 5 |
Top tissues by expression
230 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cerebellar cortex | UBERON:0002129 | 80.55 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 80.54 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 80.24 | gold quality |
| cerebellum | UBERON:0002037 | 79.85 | gold quality |
| heart left ventricle | UBERON:0002084 | 71.59 | gold quality |
| apex of heart | UBERON:0002098 | 71.57 | gold quality |
| cardiac ventricle | UBERON:0002082 | 70.85 | gold quality |
| right atrium auricular region | UBERON:0006631 | 70.64 | gold quality |
| left ovary | UBERON:0002119 | 70.23 | gold quality |
| cerebellar vermis | UBERON:0004720 | 69.64 | gold quality |
| prefrontal cortex | UBERON:0000451 | 69.49 | gold quality |
| cardiac atrium | UBERON:0002081 | 69.26 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 67.96 | silver quality |
| heart | UBERON:0000948 | 66.03 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 65.61 | gold quality |
| primary visual cortex | UBERON:0002436 | 65.56 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 65.26 | gold quality |
| amygdala | UBERON:0001876 | 64.65 | gold quality |
| ovary | UBERON:0000992 | 64.53 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 64.13 | gold quality |
| right ovary | UBERON:0002118 | 63.56 | gold quality |
| neocortex | UBERON:0001950 | 63.51 | gold quality |
| right frontal lobe | UBERON:0002810 | 63.45 | gold quality |
| frontal cortex | UBERON:0001870 | 63.12 | gold quality |
| hypothalamus | UBERON:0001898 | 62.63 | gold quality |
| cortical plate | UBERON:0005343 | 61.11 | gold quality |
| cerebral cortex | UBERON:0000956 | 60.51 | gold quality |
| occipital lobe | UBERON:0002021 | 59.53 | gold quality |
| brain | UBERON:0000955 | 58.81 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 58.05 | silver quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 72.90 |
| E-HCAD-25 | yes | 43.01 |
| E-ANND-3 | yes | 5.68 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
186 targeting VWC2, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-552-5P | 99.93 | 68.56 | 1583 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | vwc2 | ENSDARG00000076495 |
| mus_musculus | Vwc2 | ENSMUSG00000050830 |
| rattus_norvegicus | Vwc2 | ENSRNOG00000049076 |
Paralogs (19): CHRDL2 (ENSG00000054938), CHRD (ENSG00000090539), CHRDL1 (ENSG00000101938), TECTA (ENSG00000109927), VWF (ENSG00000110799), MUC5B (ENSG00000117983), KCP (ENSG00000135253), ZAN (ENSG00000146839), CRIM1 (ENSG00000150938), BMPER (ENSG00000164619), OTOGL (ENSG00000165899), VWCE (ENSG00000167992), VWC2L (ENSG00000174453), MUC6 (ENSG00000184956), OTOG (ENSG00000188162), MUC2 (ENSG00000198788), MUC19 (ENSG00000205592), MUC5AC (ENSG00000215182), FCGBP (ENSG00000275395)
Protein
Protein identifiers
Brorin — Q2TAL6 (reviewed: Q2TAL6)
Alternative names: Brain-specific chordin-like protein, von Willebrand factor C domain-containing protein 2
All UniProt accessions (1): Q2TAL6
UniProt curated annotations — full annotation on UniProt →
Function. BMP antagonist which may play a role in neural development. Promotes cell adhesion.
Subunit / interactions. Peripherally associated with AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents, including VWC2. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing.
Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane. Synapse.
RefSeq proteins (1): NP_940972* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001007 | VWF_dom | Domain |
| IPR042979 | VWC2/VWC2L | Family |
| IPR057856 | VWC2L_C | Domain |
| IPR059152 | VWC2L_N | Domain |
Pfam: PF23331, PF23333, PF23334
UniProt features (10 total): domain 2, compositionally biased region 2, signal peptide 1, chain 1, region of interest 1, short sequence motif 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2TAL6-F1 | 69.08 | 0.26 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 144 (showing top):
GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, TATTATA_MIR374, GOBP_NEUROGENESIS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_BMP_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_BMP, GOBP_REGULATION_OF_CELL_SUBSTRATE_ADHESION, GOBP_RESPONSE_TO_GROWTH_FACTOR, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE
GO Biological Process (4): positive regulation of cell-substrate adhesion (GO:0010811), negative regulation of BMP signaling pathway (GO:0030514), positive regulation of neuron differentiation (GO:0045666), neurotransmitter receptor localization to postsynaptic specialization membrane (GO:0099645)
GO Molecular Function (2): molecular_function (GO:0003674), protein binding (GO:0005515)
GO Cellular Component (9): basement membrane (GO:0005604), interstitial matrix (GO:0005614), obsolete extracellular space (GO:0005615), AMPA glutamate receptor complex (GO:0032281), extrinsic component of postsynaptic membrane (GO:0098890), glutamatergic synapse (GO:0098978), extracellular region (GO:0005576), extracellular matrix (GO:0031012), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| extracellular matrix | 2 |
| regulation of cell-substrate adhesion | 1 |
| cell-substrate adhesion | 1 |
| positive regulation of cell adhesion | 1 |
| BMP signaling pathway | 1 |
| regulation of BMP signaling pathway | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| negative regulation of cellular response to growth factor stimulus | 1 |
| neuron differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of neuron differentiation | 1 |
| protein-containing complex localization | 1 |
| receptor localization to synapse | 1 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 1 |
| protein localization to postsynaptic specialization membrane | 1 |
| binding | 1 |
| ionotropic glutamate receptor complex | 1 |
| postsynaptic membrane | 1 |
| extrinsic component of synaptic membrane | 1 |
| synapse | 1 |
| cellular anatomical structure | 1 |
| external encapsulating structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
958 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| VWC2 | CHRD | Q9H2X0 | 819 |
| VWC2 | NRN1 | Q9NPD7 | 622 |
| VWC2 | BMP6 | P22004 | 620 |
| VWC2 | VWCE | Q96DN2 | 601 |
| VWC2 | NOG | Q13253 | 591 |
| VWC2 | CCDC175 | P0C221 | 591 |
| VWC2 | PRR35 | P0CG20 | 575 |
| VWC2 | GSG1L | Q6UXU4 | 527 |
| VWC2 | KBTBD12 | Q3ZCT8 | 521 |
| VWC2 | BMP2 | P12643 | 511 |
| VWC2 | CLVS2 | Q5SYC1 | 506 |
| VWC2 | RRP36 | Q96EU6 | 492 |
| VWC2 | ZPBP | Q9BS86 | 487 |
| VWC2 | BMPER | Q8N8U9 | 478 |
| VWC2 | TOGARAM1 | Q9Y4F4 | 463 |
IntAct
178 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VWC2 | ZNF696 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KRTAP5-9 | VWC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OTX1 | VWC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POU4F2 | VWC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | LCE2C | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | KRTAP2-4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | VWC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | UBQLN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXA1 | VWC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | VWC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | ADAMTSL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | UBQLN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | CRY2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | SCNM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | LCE2D | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | LCE3A | psi-mi:“MI:0915”(physical association) | 0.560 |
| HPCAL1 | VWC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | LCE3D | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | SGTB | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | LCE1F | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | SHFL | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | CNNM3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | LCE1C | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | FAM90A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | FUCA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | KRTAP13-2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | LCE3E | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | ZNF417 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | CATSPER1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| VWC2 | KRTAP13-3 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (63): VWC2 (Affinity Capture-MS), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid), VWC2 (Two-hybrid)
ESM2 similar proteins: A0A1W2PP97, A6NLX4, A6QNY1, P0DJK0, P12838, P13207, P22389, P22749, P23943, P29473, P29474, P55056, P70313, P79209, P97270, P98162, Q1RMT9, Q28969, Q2TAL6, Q2VPJ9, Q4TUC0, Q566C8, Q5BIR3, Q5JTB6, Q5NRP8, Q5RCS3, Q5SPX3, Q5XIX0, Q62600, Q64322, Q7TMJ8, Q7TPD7, Q7TSF4, Q80TT8, Q867D0, Q8BZT7, Q8C8N3, Q8K1T4, Q8K4Z2, Q8MJW9
Diamond homologs: A0A1D5NSM8, A1A5Y0, A2AVA0, A2RUV0, A2VCU8, A5A8Y8, A6QR11, B3EWY9, B5DFC9, G3I6Z6, O75095, O88322, P07996, P0C6B8, P10493, P12105, P14585, P21783, P35441, P35448, P35555, P35556, P41990, P46531, P82279, P98133, Q01705, Q07008, Q14112, Q20911, Q28178, Q2PC93, Q2TAL6, Q2VWQ2, Q3U515, Q4LDE5, Q5R3Z7, Q5RBP1, Q61220, Q61554
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 57 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of the cornified envelope | 9 | 20.3× | 1e-08 |
| Keratinization | 14 | 20.0× | 1e-13 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| keratinization | 9 | 40.5× | 2e-10 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 55 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1488 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:49802704:GTTTC:G | acceptor_loss | 0.9900 |
| 7:49802705:TTTCA:T | acceptor_loss | 0.9900 |
| 7:49802706:TTCAG:T | acceptor_loss | 0.9900 |
| 7:49802707:TCAGG:T | acceptor_loss | 0.9900 |
| 7:49802708:CA:C | acceptor_loss | 0.9900 |
| 7:49826200:T:G | acceptor_gain | 0.9900 |
| 7:49826204:T:A | acceptor_gain | 0.9900 |
| 7:49912123:G:GT | donor_gain | 0.9900 |
| 7:49802710:GGT:G | acceptor_gain | 0.9800 |
| 7:49826191:T:TA | acceptor_gain | 0.9800 |
| 7:49826199:A:AG | acceptor_gain | 0.9800 |
| 7:49912177:C:T | donor_gain | 0.9800 |
| 7:49776129:GTG:G | donor_gain | 0.9700 |
| 7:49826202:ACT:A | acceptor_gain | 0.9700 |
| 7:49910474:T:G | donor_gain | 0.9700 |
| 7:49776077:G:GT | donor_gain | 0.9600 |
| 7:49776128:CGTGG:C | donor_loss | 0.9600 |
| 7:49776130:TGGT:T | donor_loss | 0.9600 |
| 7:49776131:GGTAA:G | donor_loss | 0.9600 |
| 7:49776132:G:GC | donor_loss | 0.9600 |
| 7:49776132:G:GG | donor_gain | 0.9600 |
| 7:49776133:T:TT | donor_loss | 0.9600 |
| 7:49776173:G:GT | donor_gain | 0.9600 |
| 7:49802709:A:AG | acceptor_gain | 0.9600 |
| 7:49802710:G:GG | acceptor_gain | 0.9600 |
| 7:49776134:A:C | donor_loss | 0.9500 |
| 7:49793079:T:G | acceptor_gain | 0.9500 |
| 7:49773916:A:G | donor_gain | 0.9400 |
| 7:49802709:AG:A | acceptor_gain | 0.9400 |
| 7:49802710:GG:G | acceptor_gain | 0.9400 |
AlphaMissense
2118 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:49775898:T:A | C155S | 1.000 |
| 7:49775899:G:C | C155S | 1.000 |
| 7:49775941:T:G | F169C | 1.000 |
| 7:49775973:T:A | C180S | 1.000 |
| 7:49775974:G:C | C180S | 1.000 |
| 7:49776127:T:G | F231C | 1.000 |
| 7:49802789:T:A | C259S | 1.000 |
| 7:49802789:T:C | C259R | 1.000 |
| 7:49802790:G:C | C259S | 1.000 |
| 7:49912042:T:A | C279S | 1.000 |
| 7:49912042:T:C | C279R | 1.000 |
| 7:49912043:G:C | C279S | 1.000 |
| 7:49912044:C:G | C279W | 1.000 |
| 7:49912134:G:C | W309C | 1.000 |
| 7:49912134:G:T | W309C | 1.000 |
| 7:49775898:T:C | C155R | 0.999 |
| 7:49775899:G:A | C155Y | 0.999 |
| 7:49775900:C:G | C155W | 0.999 |
| 7:49775940:T:C | F169L | 0.999 |
| 7:49775941:T:C | F169S | 0.999 |
| 7:49775942:C:A | F169L | 0.999 |
| 7:49775942:C:G | F169L | 0.999 |
| 7:49775967:T:C | C178R | 0.999 |
| 7:49775973:T:C | C180R | 0.999 |
| 7:49775974:G:A | C180Y | 0.999 |
| 7:49775975:C:G | C180W | 0.999 |
| 7:49775994:T:A | C187S | 0.999 |
| 7:49775995:G:C | C187S | 0.999 |
| 7:49776009:T:A | C192S | 0.999 |
| 7:49776009:T:C | C192R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000018041 (7:49791271 C>G,T), RS1000018716 (7:49882754 T>C), RS1000043554 (7:49776149 G>A,C,T), RS1000057468 (7:49903993 A>G), RS1000062416 (7:49841043 A>C), RS1000077271 (7:49834583 C>G), RS1000142679 (7:49897190 C>T), RS1000146899 (7:49917721 T>C,G), RS1000186590 (7:49869752 C>A), RS1000194769 (7:49897492 A>G), RS1000196201 (7:49833400 A>T), RS1000200385 (7:49853005 C>G), RS1000243555 (7:49866409 G>T), RS1000257157 (7:49847010 C>G,T), RS1000301108 (7:49869948 T>C)
Disease associations
OMIM: gene MIM:611108 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002707_7 | Serum thyroid-stimulating hormone levels | 5.000000e-06 |
| GCST002783_395 | Body mass index | 2.000000e-06 |
| GCST002783_482 | Body mass index | 4.000000e-06 |
| GCST003264_198 | Post bronchodilator FEV1/FVC ratio | 3.000000e-06 |
| GCST004747_20 | Lung cancer in never smokers | 4.000000e-06 |
| GCST004904_76 | Body mass index | 5.000000e-10 |
| GCST005024_21 | Pursuit maintenance gain | 7.000000e-06 |
| GCST006585_810 | Blood protein levels | 1.000000e-22 |
| GCST008478_28 | Neurological blood protein biomarker levels | 5.000000e-17 |
| GCST012420_13 | tricyclic pyrone compound response (IC50) | 9.000000e-06 |
| GCST90000050_57 | Age at first birth | 1.000000e-08 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0600033 | response to mitochondrial complex I inhibitor |
| EFO:0009101 | age at first birth measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 2 |
| bisphenol A | decreases methylation | 1 |
| N-acetyl-4-benzoquinoneimine | affects response to substance | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation, increases methylation | 1 |
| MT19c compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Valproic Acid | decreases methylation | 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.