SPOCK2
gene geneOn this page
Also known as KIAA0275testican-2
Summary
SPOCK2 (SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2, HGNC:13564) is a protein-coding gene on chromosome 10q22.1, encoding Testican-2 (Q92563). May participate in diverse steps of neurogenesis.
This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.
Source: NCBI Gene 9806 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 75 total
- MANE Select transcript:
NM_001244950
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13564 |
| Approved symbol | SPOCK2 |
| Name | SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 |
| Location | 10q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0275, testican-2 |
| Ensembl gene | ENSG00000107742 |
| Ensembl biotype | protein_coding |
| OMIM | 607988 |
| Entrez | 9806 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding_CDS_not_defined, 4 protein_coding
ENST00000317376, ENST00000373109, ENST00000412663, ENST00000460053, ENST00000463279, ENST00000469121, ENST00000483699, ENST00000495888, ENST00000885192
RefSeq mRNA: 3 — MANE Select: NM_001244950
NM_001134434, NM_001244950, NM_014767
CCDS: CCDS44431, CCDS7313
Canonical transcript exons
ENST00000373109 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000708564 | 72070312 | 72070426 |
| ENSE00000708566 | 72072144 | 72072258 |
| ENSE00000708569 | 72072503 | 72072548 |
| ENSE00001459526 | 72088140 | 72088551 |
| ENSE00002496406 | 72072902 | 72072910 |
| ENSE00003497999 | 72064178 | 72064240 |
| ENSE00003621083 | 72063025 | 72063162 |
| ENSE00003682718 | 72068187 | 72068301 |
| ENSE00003689100 | 72066902 | 72067120 |
| ENSE00003691013 | 72067613 | 72067732 |
| ENSE00003845917 | 72059034 | 72062905 |
Expression profiles
Bgee: expression breadth ubiquitous, 245 present calls, max score 99.61.
FANTOM5 (CAGE): breadth broad, TPM avg 45.5254 / max 1785.9832, expressed in 568 samples.
FANTOM5 promoters (17 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 109971 | 26.3155 | 453 |
| 109970 | 7.5927 | 395 |
| 109972 | 6.5676 | 324 |
| 109978 | 1.0919 | 222 |
| 109973 | 0.9146 | 195 |
| 109969 | 0.7013 | 208 |
| 109968 | 0.6433 | 205 |
| 109974 | 0.5566 | 173 |
| 109979 | 0.3458 | 147 |
| 109967 | 0.3112 | 131 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| paraflocculus | UBERON:0005351 | 99.61 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.33 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.94 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.94 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.92 | gold quality |
| cerebellum | UBERON:0002037 | 98.91 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 98.84 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 98.74 | gold quality |
| cerebellar vermis | UBERON:0004720 | 98.72 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 98.59 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 98.59 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.48 | gold quality |
| pons | UBERON:0000988 | 98.42 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.42 | gold quality |
| inferior olivary complex | UBERON:0002127 | 98.41 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.27 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.20 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.12 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.06 | gold quality |
| frontal pole | UBERON:0002795 | 98.06 | gold quality |
| hypothalamus | UBERON:0001898 | 98.01 | gold quality |
| medulla oblongata | UBERON:0001896 | 97.95 | gold quality |
| right frontal lobe | UBERON:0002810 | 97.74 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.70 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.68 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.58 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.53 | gold quality |
| occipital lobe | UBERON:0002021 | 97.53 | gold quality |
| prefrontal cortex | UBERON:0000451 | 97.47 | gold quality |
| postcentral gyrus | UBERON:0002581 | 97.45 | gold quality |
Single-cell (SCXA)
Detected in 21 experiment(s), a significant marker in 18.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-122 | yes | 467.27 |
| E-MTAB-6678 | yes | 398.61 |
| E-MTAB-9221 | yes | 383.04 |
| E-MTAB-7381 | yes | 332.11 |
| E-CURD-112 | yes | 226.74 |
| E-CURD-6 | yes | 110.84 |
| E-HCAD-4 | yes | 62.30 |
| E-CURD-88 | yes | 55.25 |
| E-MTAB-8142 | yes | 39.98 |
| E-HCAD-1 | yes | 36.41 |
| E-HCAD-10 | yes | 36.06 |
| E-MTAB-8410 | yes | 34.74 |
| E-GEOD-135922 | yes | 25.48 |
| E-CURD-46 | yes | 21.55 |
| E-ANND-3 | yes | 11.91 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EZH2
miRNA regulators (miRDB)
39 targeting SPOCK2, 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-6079 | 99.84 | 68.54 | 1170 |
| HSA-MIR-1321 | 99.84 | 65.30 | 1811 |
| HSA-MIR-4739 | 99.84 | 65.25 | 1832 |
| HSA-MIR-4756-5P | 99.84 | 64.98 | 1809 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-6080 | 99.43 | 69.43 | 373 |
| HSA-MIR-5580-5P | 99.38 | 66.96 | 1139 |
| HSA-MIR-593-5P | 99.34 | 69.50 | 965 |
| HSA-MIR-6828-5P | 99.31 | 69.21 | 1433 |
| HSA-MIR-3614-5P | 99.30 | 65.25 | 837 |
| HSA-MIR-3154 | 98.94 | 66.55 | 1455 |
| HSA-MIR-6852-3P | 98.54 | 67.60 | 1468 |
| HSA-MIR-6784-3P | 98.39 | 64.88 | 662 |
| HSA-MIR-6842-3P | 98.07 | 66.33 | 1325 |
Literature-anchored findings (GeneRIF, showing 14)
- Neurons are a major source of all of the testican family members in the normal brain. Abundant distribution of testican 2 may contribute to glioma invasion by inactivating other testican family members including N-Tes, which all inhibit MT-MMPs. (PMID:12810672)
- purification and characterization of a recombinant testican-2 expressed in insect cells; the C1q subcomponent of complement component C1 was identified as a potential interacting partner of testican-2 (PMID:17950619)
- candidate susceptibility gene for bronchopulmonary dysplasia; lung expression pattern indicates potential role in alveolarization (PMID:21836138)
- The upregulation of SPOCK2-encoded Testican2 proteoglycan and of ectodysplasin (EDA) protein was coupled with a down-regulation of EDA2 receptor (EDA2R). (PMID:29708036)
- Dysregulation of pseudogene/lncRNA-hsa-miR-363-3p-SPOCK2 pathway fuels stage progression of ovarian cancer. (PMID:31794425)
- SPOCK2 Affects the Biological Behavior of Endometrial Cancer Cells by Regulation of MT1-MMP and MMP2. (PMID:32430715)
- Downregulation of SPOCK2 promotes the proliferation, adhesion, and invasion of endometrial epithelial cells. (PMID:32851893)
- Circulating testican-2 is a podocyte-derived marker of kidney health. (PMID:32958645)
- Testican-2 Is Associated with Reduced Risk of Incident ESKD. (PMID:36288905)
- SPOCK2 and SPRED1 function downstream of EZH2 to impede the malignant progression of lung adenocarcinoma in vitro and in vivo. (PMID:36629984)
- Integrated bulk and single-cell RNA-sequencing reveals SPOCK2 as a novel biomarker gene in the development of congenital pulmonary airway malformation. (PMID:37165378)
- SPOCK2 gene expression is downregulated in pancreatic ductal adenocarcinoma cells and correlates with prognosis of patients with pancreatic cancer. (PMID:37188984)
- The novel prognostic marker SPOCK2 regulates tumour progression in melanoma. (PMID:38888196)
- SPOCK: Master regulator of malignant tumors (Review). (PMID:39392048)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | spock2 | ENSDARG00000075393 |
| mus_musculus | Spock2 | ENSMUSG00000058297 |
| rattus_norvegicus | Spock2 | ENSRNOG00000061544 |
| drosophila_melanogaster | Cow | FBGN0039054 |
| caenorhabditis_elegans | WBGENE00016918 |
Paralogs (3): SPOCK1 (ENSG00000152377), SPOCK3 (ENSG00000196104), KIAA1210 (ENSG00000250423)
Protein
Protein identifiers
Testican-2 — Q92563 (reviewed: Q92563)
Alternative names: SPARC/osteonectin, CWCV, and Kazal-like domains proteoglycan 2
All UniProt accessions (1): Q92563
UniProt curated annotations — full annotation on UniProt →
Function. May participate in diverse steps of neurogenesis. Binds calcium.
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Tissue specificity. Highly expressed in brain. Also found in lung and testis.
Post-translational modifications. Contains chondroitin sulfate and heparan sulfate O-linked oligosaccharides.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q92563-1 | 1 | yes |
| Q92563-2 | 2 |
RefSeq proteins (3): NP_001127906, NP_001231879, NP_055582 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000716 | Thyroglobulin_1 | Domain |
| IPR002350 | Kazal_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR019577 | SPARC/Testican_Ca-bd-dom | Domain |
| IPR036058 | Kazal_dom_sf | Homologous_superfamily |
| IPR036857 | Thyroglobulin_1_sf | Homologous_superfamily |
Pfam: PF00086, PF07648, PF10591
UniProt features (22 total): disulfide bond 8, glycosylation site 3, splice variant 2, domain 2, signal peptide 1, chain 1, sequence variant 1, sequence conflict 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92563-F1 | 67.37 | 0.09 |
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 (1): 72
Disulfide bonds (8): 90–101, 95–111, 136–166, 139–159, 148–180, 313–337, 348–355, 357–376
Glycosylation sites (3): 225, 383, 388
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 294 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, AHRARNT_01, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GAANYNYGACNY_UNKNOWN, GOBP_SYNAPSE_ASSEMBLY, GOBP_RESPONSE_TO_PEPTIDE, RORA1_01, AP4_Q6, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, MODULE_66, GTGCCTT_MIR506, TCF4_Q5
GO Biological Process (6): synapse assembly (GO:0007416), positive regulation of cell-substrate adhesion (GO:0010811), extracellular matrix organization (GO:0030198), regulation of cell differentiation (GO:0045595), cellular response to leukemia inhibitory factor (GO:1990830), positive regulation of cell motility (GO:2000147)
GO Molecular Function (6): calcium ion binding (GO:0005509), collagen binding (GO:0005518), glycosaminoglycan binding (GO:0005539), metalloendopeptidase inhibitor activity (GO:0008191), extracellular matrix binding (GO:0050840), protein binding (GO:0005515)
GO Cellular Component (3): obsolete extracellular space (GO:0005615), extracellular matrix (GO:0031012), extracellular region (GO:0005576)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| nervous system development | 1 |
| cell junction assembly | 1 |
| synapse organization | 1 |
| regulation of cell-substrate adhesion | 1 |
| cell-substrate adhesion | 1 |
| positive regulation of cell adhesion | 1 |
| extracellular structure organization | 1 |
| external encapsulating structure organization | 1 |
| cell differentiation | 1 |
| regulation of developmental process | 1 |
| regulation of cellular process | 1 |
| cellular response to cytokine stimulus | 1 |
| response to leukemia inhibitory factor | 1 |
| positive regulation of locomotion | 1 |
| positive regulation of cellular process | 1 |
| cell motility | 1 |
| regulation of cell motility | 1 |
| metal ion binding | 1 |
| protein-containing complex binding | 1 |
| carbohydrate derivative binding | 1 |
| metalloendopeptidase activity | 1 |
| endopeptidase inhibitor activity | 1 |
| external encapsulating structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1056 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SPOCK2 | MMP16 | P51512 | 817 |
| SPOCK2 | FST | P19883 | 733 |
| SPOCK2 | TG | P01266 | 702 |
| SPOCK2 | MMP14 | P50281 | 612 |
| SPOCK2 | MMP2 | P08253 | 471 |
| SPOCK2 | MMP1 | P03956 | 427 |
| SPOCK2 | SMOC1 | Q9H4F8 | 358 |
| SPOCK2 | MATN2 | O00339 | 354 |
| SPOCK2 | SS18L2 | Q9UHA2 | 352 |
| SPOCK2 | COL19A1 | Q14993 | 344 |
| SPOCK2 | ERBB2 | P04626 | 338 |
| SPOCK2 | VMA22 | Q96NT0 | 335 |
| SPOCK2 | NHSL2 | Q5HYW2 | 330 |
| SPOCK2 | MRPL51 | Q4U2R6 | 327 |
| SPOCK2 | ASPN | Q9BXN1 | 326 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ENKD1 | SPOCK2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPOCK2 | ENKD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPOCK2 | UBA52 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PLXNB3 | SPOCK2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SPOCK2 | VPS4B | psi-mi:“MI:0914”(association) | 0.350 |
| SPOCK2 | hutU | psi-mi:“MI:0915”(physical association) | 0.000 |
| DSCR9 | SPOCK2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (21): SPOCK3 (Affinity Capture-Western), SPOCK2 (Affinity Capture-Western), SPOCK2 (Proximity Label-MS), SPOCK2 (Affinity Capture-RNA), UXS1 (Affinity Capture-MS), VPS4B (Affinity Capture-MS), TEX15 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), TPRKB (Affinity Capture-MS), ZNF146 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), COL14A1 (Affinity Capture-MS), RPS14 (Affinity Capture-MS), EME1 (Affinity Capture-MS), SENP5 (Affinity Capture-MS)
ESM2 similar proteins: A2RUV9, F8W3R9, O18738, O43278, O54858, O88393, O97827, P00734, P00735, P0C5J5, P12259, P18292, P26342, P35054, P51511, Q08629, Q08E66, Q09101, Q14118, Q24567, Q24568, Q28685, Q29243, Q5R537, Q5RD69, Q62165, Q62288, Q640N1, Q66K79, Q701R2, Q7TQN3, Q80TS3, Q8BKV0, Q8IUX7, Q8N436, Q8R4V4, Q8TEU8, Q91ZV2, Q91ZV3, Q92563
Diamond homologs: A0A1D0C023, B3F211, B5DFC9, P04233, P04441, P10247, P10493, P31226, P81439, P84032, Q08629, Q14112, Q62288, Q8BKV0, Q8BLY1, Q8CD91, Q92563, Q9ER58, Q9H3U7, Q9H4F8, A0A075TXZ3, A0A0E4AET8, A0A8B0RBM2, A1CFK9, A7YN26, B2D0J5, D2D3B6, D6WMZ8, F1RRV3, O08710, O16168, O16169, O16170, O16171, O16172, O16173, O62760, O62761, O62763, O88322
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
75 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 60 |
| Likely benign | 3 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1528 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:72063158:GATGC:G | acceptor_gain | 1.0000 |
| 10:72063159:ATGC:A | acceptor_gain | 1.0000 |
| 10:72063161:GC:G | acceptor_gain | 1.0000 |
| 10:72063162:CC:C | acceptor_gain | 1.0000 |
| 10:72063163:C:CC | acceptor_gain | 1.0000 |
| 10:72063163:C:CG | acceptor_loss | 1.0000 |
| 10:72063167:A:AC | acceptor_gain | 1.0000 |
| 10:72064177:CCTGG:C | donor_gain | 1.0000 |
| 10:72066894:GCAC:G | donor_loss | 1.0000 |
| 10:72066895:CACT:C | donor_loss | 1.0000 |
| 10:72066896:ACTC:A | donor_loss | 1.0000 |
| 10:72066897:CT:C | donor_loss | 1.0000 |
| 10:72066898:TCACT:T | donor_loss | 1.0000 |
| 10:72066899:CACTC:C | donor_loss | 1.0000 |
| 10:72066900:A:AC | donor_gain | 1.0000 |
| 10:72066900:ACT:A | donor_gain | 1.0000 |
| 10:72066900:ACTCT:A | donor_gain | 1.0000 |
| 10:72066901:C:CG | donor_gain | 1.0000 |
| 10:72066901:CT:C | donor_gain | 1.0000 |
| 10:72066901:CTC:C | donor_gain | 1.0000 |
| 10:72066901:CTCT:C | donor_gain | 1.0000 |
| 10:72066901:CTCTC:C | donor_gain | 1.0000 |
| 10:72066904:T:A | donor_gain | 1.0000 |
| 10:72066905:C:CA | donor_gain | 1.0000 |
| 10:72066930:A:AC | donor_gain | 1.0000 |
| 10:72066930:AG:A | donor_gain | 1.0000 |
| 10:72066931:G:C | donor_gain | 1.0000 |
| 10:72066949:T:TA | donor_gain | 1.0000 |
| 10:72066998:A:AC | donor_gain | 1.0000 |
| 10:72066999:C:CC | donor_gain | 1.0000 |
AlphaMissense
2814 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:72066924:C:A | W302C | 1.000 |
| 10:72066924:C:G | W302C | 1.000 |
| 10:72066926:A:G | W302R | 1.000 |
| 10:72066926:A:T | W302R | 1.000 |
| 10:72066964:C:T | C289Y | 1.000 |
| 10:72066987:G:C | C281W | 1.000 |
| 10:72066988:C:T | C281Y | 1.000 |
| 10:72066989:A:G | C281R | 1.000 |
| 10:72067069:A:C | F254C | 1.000 |
| 10:72067680:C:A | W214C | 1.000 |
| 10:72067680:C:G | W214C | 1.000 |
| 10:72067690:A:G | L211P | 1.000 |
| 10:72072170:G:C | C111W | 1.000 |
| 10:72072171:C:G | C111S | 1.000 |
| 10:72072172:A:G | C111R | 1.000 |
| 10:72072172:A:T | C111S | 1.000 |
| 10:72072200:G:C | C101W | 1.000 |
| 10:72072201:C:G | C101S | 1.000 |
| 10:72072201:C:T | C101Y | 1.000 |
| 10:72072202:A:G | C101R | 1.000 |
| 10:72072202:A:T | C101S | 1.000 |
| 10:72072219:C:G | C95S | 1.000 |
| 10:72072220:A:G | C95R | 1.000 |
| 10:72072220:A:T | C95S | 1.000 |
| 10:72072234:C:G | C90S | 1.000 |
| 10:72072235:A:T | C90S | 1.000 |
| 10:72088155:C:A | W58C | 1.000 |
| 10:72088155:C:G | W58C | 1.000 |
| 10:72063143:G:C | C337W | 0.999 |
| 10:72063144:C:G | C337S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000111162 (10:72082172 T>C), RS1000159281 (10:72086594 A>G), RS1000199926 (10:72085320 A>G), RS1000274800 (10:72085630 T>G), RS1000533952 (10:72087083 G>A,T), RS1000609237 (10:72087391 T>A), RS1000717814 (10:72080863 C>G,T), RS1000737905 (10:72063228 AC>A), RS1000768517 (10:72069428 A>C), RS1000799446 (10:72075101 A>G), RS1000997611 (10:72068754 C>T), RS1001008190 (10:72075004 C>T), RS1001044892 (10:72080600 G>A), RS1001153018 (10:72063101 G>A), RS1001279021 (10:72084181 T>C)
Disease associations
OMIM: gene MIM:607988 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000937_5 | Insulin-like growth factors | 5.000000e-07 |
| GCST001539_5 | Smoking behavior | 8.000000e-07 |
| GCST006585_323 | Blood protein levels | 3.000000e-17 |
| GCST010796_5336 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST012255_1 | Response to antioxidants and zinc in age-related macular degeneration (disease progression) | 3.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004627 | IGF-1 measurement |
| EFO:0004318 | smoking behavior |
| EFO:0004327 | electrocardiography |
| EFO:0008336 | disease progression measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Cisplatin | affects cotreatment, increases expression, decreases expression | 2 |
| Nickel | increases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| bufotalin | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| arsenic disulfide | affects expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Benzene | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Carbamazepine | affects expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| 8-Bromo Cyclic Adenosine Monophosphate | increases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Paclitaxel | affects cotreatment, increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| p-Chloromercuribenzoic Acid | increases expression | 1 |
| Particulate Matter | increases abundance, increases 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.