SGSM2
gene geneOn this page
Also known as KIAA0397
Summary
SGSM2 (small G protein signaling modulator 2, HGNC:29026) is a protein-coding gene on chromosome 17p13.3, encoding Small G protein signaling modulator 2 (O43147). Possesses GTPase activator activity towards RAB32, RAB33B and RAB38.
The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation.
Source: NCBI Gene 9905 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 224 total
- MANE Select transcript:
NM_014853
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29026 |
| Approved symbol | SGSM2 |
| Name | small G protein signaling modulator 2 |
| Location | 17p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0397 |
| Ensembl gene | ENSG00000141258 |
| Ensembl biotype | protein_coding |
| OMIM | 611418 |
| Entrez | 9905 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 11 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay
ENST00000268989, ENST00000426855, ENST00000570431, ENST00000572841, ENST00000572875, ENST00000572925, ENST00000573062, ENST00000573717, ENST00000573851, ENST00000574250, ENST00000574563, ENST00000574650, ENST00000574857, ENST00000575367, ENST00000930413, ENST00000930414, ENST00000968832, ENST00000968833
RefSeq mRNA: 3 — MANE Select: NM_014853
NM_001098509, NM_001346700, NM_014853
CCDS: CCDS32526, CCDS45570, CCDS86557
Canonical transcript exons
ENST00000268989 — 24 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001593370 | 2364897 | 2365057 |
| ENSE00001603745 | 2372343 | 2372488 |
| ENSE00001638115 | 2376733 | 2376815 |
| ENSE00001641296 | 2376137 | 2376261 |
| ENSE00001650836 | 2373331 | 2373513 |
| ENSE00001693579 | 2362838 | 2362905 |
| ENSE00001694233 | 2372953 | 2373081 |
| ENSE00001715393 | 2375492 | 2375875 |
| ENSE00001724476 | 2367271 | 2367405 |
| ENSE00001774881 | 2362989 | 2363134 |
| ENSE00002267698 | 2337501 | 2337745 |
| ENSE00003569346 | 2377857 | 2377953 |
| ENSE00003601734 | 2363465 | 2363599 |
| ENSE00003639699 | 2365215 | 2365341 |
| ENSE00003647061 | 2364059 | 2364183 |
| ENSE00003655419 | 2371262 | 2371415 |
| ENSE00003674914 | 2379432 | 2381054 |
| ENSE00003679550 | 2379036 | 2379203 |
| ENSE00003680721 | 2372190 | 2372254 |
| ENSE00003693491 | 2376959 | 2377068 |
| ENSE00003702792 | 2343545 | 2343620 |
| ENSE00003703243 | 2362109 | 2362270 |
| ENSE00003706615 | 2364596 | 2364663 |
| ENSE00003709178 | 2361637 | 2361799 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.26.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.5141 / max 1398.2321, expressed in 1812 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 158808 | 26.7039 | 1810 |
| 158809 | 0.4760 | 265 |
| 158816 | 0.2385 | 5 |
| 158815 | 0.0400 | 4 |
| 158817 | 0.0369 | 6 |
| 158810 | 0.0189 | 11 |
Top tissues by expression
297 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.26 | gold quality |
| cauda epididymis | UBERON:0004360 | 99.02 | gold quality |
| endothelial cell | CL:0000115 | 98.92 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.64 | gold quality |
| pituitary gland | UBERON:0000007 | 98.60 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.55 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.40 | gold quality |
| right frontal lobe | UBERON:0002810 | 98.24 | gold quality |
| amygdala | UBERON:0001876 | 98.14 | gold quality |
| nucleus accumbens | UBERON:0001882 | 98.11 | gold quality |
| cingulate cortex | UBERON:0003027 | 97.93 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 97.91 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 97.86 | gold quality |
| temporal lobe | UBERON:0001871 | 97.65 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.60 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.59 | gold quality |
| putamen | UBERON:0001874 | 97.57 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.51 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 97.29 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 97.26 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 97.25 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 97.23 | gold quality |
| forebrain | UBERON:0001890 | 97.13 | gold quality |
| ventricular zone | UBERON:0003053 | 97.13 | gold quality |
| telencephalon | UBERON:0001893 | 97.11 | gold quality |
| neocortex | UBERON:0001950 | 97.10 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.10 | gold quality |
| cerebral cortex | UBERON:0000956 | 97.09 | gold quality |
| Ammon’s horn | UBERON:0001954 | 97.01 | gold quality |
| occipital lobe | UBERON:0002021 | 97.00 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.45 |
| E-GEOD-124858 | no | 28.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
62 targeting SGSM2, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-6503-5P | 99.62 | 66.96 | 597 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-4672 | 99.50 | 71.58 | 2893 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
Literature-anchored findings (GeneRIF, showing 6)
- Identification of novel protein SGSM2 which modulate small G protein (RAP and RAB)-mediated signaling pathway (PMID:17509819)
- RUTBC1 is a Tre2/Bub2/Cdc16 domain-containing protein that binds to Rab9A-GTP both in vitro and in cultured cells, but is not a GTPase-activating protein for Rab9A. (PMID:21808068)
- Data suggest RUTBC1/SGSM2 in melanocytes functions as physiological GTPase-activating protein for Rab32/Rab38 in regulation of transport of melanogenic enzymes (tyrosinase, tyrosinase-related protein 1, dopachrome isomerase) into melanosomes. (PMID:26620560)
- Weighted gene co-expression network analysis identifies specific modules and hub genes related to subsyndromal symptomatic depression. (PMID:30489189)
- Increased expression of SGSM2 is associated with estrogen receptor-positive breast cancer metastasis. (PMID:30744493)
- SGSM2 inhibits thyroid cancer progression by activating RAP1 and enhancing competitive RAS inhibition. (PMID:35264562)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sgsm2 | ENSDARG00000063307 |
| mus_musculus | Sgsm2 | ENSMUSG00000038351 |
| rattus_norvegicus | Sgsm2 | ENSRNOG00000027194 |
Paralogs (45): RABGAP1 (ENSG00000011454), TBC1D22A (ENSG00000054611), TBC1D22B (ENSG00000065491), TBC1D1 (ENSG00000065882), EVI5 (ENSG00000067208), TBC1D25 (ENSG00000068354), TBC1D2 (ENSG00000095383), TBC1D10A (ENSG00000099992), SGSM3 (ENSG00000100359), TBC1D17 (ENSG00000104946), TBC1D13 (ENSG00000107021), TBC1D12 (ENSG00000108239), TBC1D9 (ENSG00000109436), TBC1D30 (ENSG00000111490), TBC1D15 (ENSG00000121749), TBC1D5 (ENSG00000131374), TBC1D14 (ENSG00000132405), TBC1D8B (ENSG00000133138), TBC1D4 (ENSG00000136111), GRTP1 (ENSG00000139835), EVI5L (ENSG00000142459), TBCK (ENSG00000145348), USP6NL (ENSG00000148429), RABGAP1L (ENSG00000152061), SGSM1 (ENSG00000167037), TBC1D21 (ENSG00000167139), TBC1D2B (ENSG00000167202), TBC1D16 (ENSG00000167291), TBC1D10B (ENSG00000169221), TBC1D10C (ENSG00000175463), TBC1D28 (ENSG00000189375), TBC1D9B (ENSG00000197226), TBC1D8 (ENSG00000204634), TBC1D26 (ENSG00000214946), TBC1D3G (ENSG00000260287), TBC1D3K (ENSG00000273513), TBC1D3H (ENSG00000274226), TBC1D3D (ENSG00000274419), TBC1D3L (ENSG00000274512), TBC1D3 (ENSG00000274611)
Protein
Protein identifiers
Small G protein signaling modulator 2 — O43147 (reviewed: O43147)
Alternative names: RUN and TBC1 domain-containing protein 1
All UniProt accessions (8): B9A6J3, O43147, I3L1Y7, I3L361, I3NI18, J3QSA2, V9GYD2, V9GYJ0
UniProt curated annotations — full annotation on UniProt →
Function. Possesses GTPase activator activity towards RAB32, RAB33B and RAB38. Regulates the trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes by inactivating RAB32 and RAB38. Inhibits RAB32 and RAB38 activation both directly by promoting their GTPase activity and indirectly by disrupting the RAB9A-HPS4 interaction which is required for RAB32/38 activation.
Subunit / interactions. Interacts with RAB4A, RAB11A, RAP1A, RAP1B, RAP2A and RAP2B. No interaction with RAB27A. Interacts with RAB9A.
Subcellular location. Cytoplasm. Melanosome.
Tissue specificity. Widely expressed.
Domain organisation. The Rab-GAP TBC domain possesses GTPase activator activity.
Similarity. Belongs to the RUTBC family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43147-1 | 1 | yes |
| O43147-2 | 2 | |
| O43147-3 | 3 | |
| O43147-5 | 5 |
RefSeq proteins (3): NP_001091979, NP_001333629, NP_055668* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000195 | Rab-GAP-TBC_dom | Domain |
| IPR004012 | Run_dom | Domain |
| IPR021935 | SGSM1/2_RBD | Domain |
| IPR035969 | Rab-GAP_TBC_sf | Homologous_superfamily |
| IPR037213 | Run_dom_sf | Homologous_superfamily |
| IPR037745 | SGSM1/2 | Domain |
| IPR047345 | RUN_SGSM2 | Domain |
Pfam: PF00566, PF02759, PF12068
UniProt features (24 total): splice variant 6, sequence variant 6, region of interest 3, compositionally biased region 3, domain 2, chain 1, mutagenesis site 1, sequence conflict 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43147-F1 | 71.97 | 0.40 |
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): 402
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 803 | loss of gtpase activator activity towards rab32, rab33b and rab38. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 127 (showing top):
GOZGIT_ESR1_TARGETS_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOMF_GTPASE_BINDING, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, WINTER_HYPOXIA_METAGENE, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GOBP_RETROGRADE_TRANSPORT_ENDOSOME_TO_GOLGI, GOBP_CYTOSOLIC_TRANSPORT, GOCC_PIGMENT_GRANULE, GOBP_GOLGI_VESICLE_TRANSPORT, GOMF_ENZYME_ACTIVATOR_ACTIVITY, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN
GO Biological Process (1): late endosome to Golgi transport (GO:0034499)
GO Molecular Function (2): GTPase activator activity (GO:0005096), small GTPase binding (GO:0031267)
GO Cellular Component (3): cytoplasm (GO:0005737), melanosome (GO:0042470), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| retrograde transport, endosome to Golgi | 1 |
| Golgi vesicle transport | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| GTPase binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| pigment granule | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
914 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SGSM2 | SGSM3 | Q96HU1 | 907 |
| SGSM2 | RAP1B | P09526 | 763 |
| SGSM2 | RAB4A | P20338 | 758 |
| SGSM2 | RAP2A | P10114 | 716 |
| SGSM2 | RAB11A | P24410 | 696 |
| SGSM2 | RAB9A | P51151 | 691 |
| SGSM2 | RAB3A | P20336 | 683 |
| SGSM2 | RAB8A | P24407 | 676 |
| SGSM2 | RAP1A | P10113 | 663 |
| SGSM2 | RAP2B | P17964 | 653 |
| SGSM2 | RAB5A | P20339 | 614 |
| SGSM2 | RAB32 | Q13637 | 605 |
| SGSM2 | ANKRD27 | Q96NW4 | 541 |
| SGSM2 | RAB33B | Q9H082 | 539 |
| SGSM2 | TBC1D12 | O60347 | 519 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CETN1 | SFI1 | psi-mi:“MI:0914”(association) | 0.640 |
| PTPRN | SGSM2 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPRN2 | SGSM2 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPRN | KCNK1 | psi-mi:“MI:0914”(association) | 0.350 |
| GPC3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| DSCR9 | SGSM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | PTN | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | PNO1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | MPP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | FNBP1L | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | CA12 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | CHD3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| EGFR | SGSM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | GDPD2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | AFP | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | CELSR3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | ILF2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | KHDRBS3 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | RGMA | psi-mi:“MI:0915”(physical association) | 0.000 |
| SGSM2 | RPS25 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (34): SGSM2 (Affinity Capture-MS), SGSM2 (Affinity Capture-MS), SGSM2 (Affinity Capture-RNA), SGSM2 (Affinity Capture-MS), SGSM2 (Protein-RNA), RAB2A (Two-hybrid), RAB2B (Two-hybrid), RAB3A (Two-hybrid), RAB3B (Two-hybrid), RAB9A (Two-hybrid), RAB9B (Two-hybrid), SGSM2 (Reconstituted Complex), RAB9A (Affinity Capture-Western), AFP (Two-hybrid), CELSR3 (Two-hybrid)
ESM2 similar proteins: A0A1L8F1M4, A0A8M9QN10, A0JMQ9, A6NIR3, A8DZE6, A8WH69, B2KF05, F1QCY8, O43147, O43900, O54880, P0C6P5, P59729, P97433, Q13009, Q18PD9, Q2NKQ1, Q32L09, Q3U5C7, Q58D79, Q5EB20, Q5PQS0, Q5U464, Q60592, Q6IVY4, Q6P0Q8, Q6ZQF7, Q6ZUJ8, Q71QF9, Q768S4, Q7T2V3, Q7TNN8, Q7TSI1, Q7ZVP1, Q803A0, Q80U12, Q80VL3, Q80Y24, Q8BPQ7, Q8BRB7
Diamond homologs: A1A5B6, O43147, P09379, P48365, Q2NKQ1, Q3MII6, Q6FWI1, Q80U12, Q8BPQ7, Q8BYH7, Q8TBP0, Q8TC07, Q94BY9, Q9CXF4, Q9HA65, Q9UUH7, I2HAA0, Q09830, Q6BU76, Q28CB1, Q8R3D1, Q9NVG8, P48566, Q12344
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
224 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 195 |
| Likely benign | 2 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5683 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:2337742:GGAG:G | donor_gain | 1.0000 |
| 17:2337743:G:GT | donor_gain | 1.0000 |
| 17:2337745:GGT:G | donor_loss | 1.0000 |
| 17:2343625:G:GG | donor_gain | 1.0000 |
| 17:2361798:AGGTG:A | donor_loss | 1.0000 |
| 17:2361800:G:GC | donor_loss | 1.0000 |
| 17:2361801:T:G | donor_loss | 1.0000 |
| 17:2362755:T:TA | acceptor_gain | 1.0000 |
| 17:2362756:G:A | acceptor_gain | 1.0000 |
| 17:2362768:ACCT:A | acceptor_gain | 1.0000 |
| 17:2362836:A:AG | acceptor_gain | 1.0000 |
| 17:2362837:G:GG | acceptor_gain | 1.0000 |
| 17:2362837:GCAA:G | acceptor_gain | 1.0000 |
| 17:2362985:ACAGT:A | acceptor_gain | 1.0000 |
| 17:2362987:A:AC | acceptor_loss | 1.0000 |
| 17:2362987:A:AG | acceptor_gain | 1.0000 |
| 17:2362987:AGT:A | acceptor_gain | 1.0000 |
| 17:2362987:AGTG:A | acceptor_gain | 1.0000 |
| 17:2362987:AGTGG:A | acceptor_gain | 1.0000 |
| 17:2362988:G:GA | acceptor_gain | 1.0000 |
| 17:2362988:GT:G | acceptor_gain | 1.0000 |
| 17:2362988:GTG:G | acceptor_gain | 1.0000 |
| 17:2362988:GTGG:G | acceptor_gain | 1.0000 |
| 17:2362988:GTGGG:G | acceptor_gain | 1.0000 |
| 17:2363105:G:GT | donor_gain | 1.0000 |
| 17:2363131:GGGG:G | donor_gain | 1.0000 |
| 17:2363132:GGG:G | donor_gain | 1.0000 |
| 17:2363132:GGGG:G | donor_gain | 1.0000 |
| 17:2363133:GG:G | donor_gain | 1.0000 |
| 17:2363133:GGG:G | donor_gain | 1.0000 |
AlphaMissense
6919 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:2343566:G:C | A27P | 1.000 |
| 17:2377929:T:A | W914R | 1.000 |
| 17:2377929:T:C | W914R | 1.000 |
| 17:2343550:G:C | K21N | 0.999 |
| 17:2343550:G:T | K21N | 0.999 |
| 17:2343570:T:A | V28D | 0.999 |
| 17:2361715:T:C | L71P | 0.999 |
| 17:2362203:T:A | W131R | 0.999 |
| 17:2362203:T:C | W131R | 0.999 |
| 17:2362216:C:A | A135E | 0.999 |
| 17:2362219:T:C | L136P | 0.999 |
| 17:2362900:T:C | L174P | 0.999 |
| 17:2362903:T:C | L175P | 0.999 |
| 17:2362903:T:G | L175R | 0.999 |
| 17:2362991:G:A | G177R | 0.999 |
| 17:2362991:G:C | G177R | 0.999 |
| 17:2362992:G:A | G177E | 0.999 |
| 17:2362995:C:A | P178H | 0.999 |
| 17:2362995:C:G | P178R | 0.999 |
| 17:2363009:T:G | Y183D | 0.999 |
| 17:2364128:T:A | W293R | 0.999 |
| 17:2364128:T:C | W293R | 0.999 |
| 17:2376174:G:C | R796P | 0.999 |
| 17:2377061:T:C | L887P | 0.999 |
| 17:2377927:G:C | R913P | 0.999 |
| 17:2377942:A:T | D918V | 0.999 |
| 17:2377949:G:C | K920N | 0.999 |
| 17:2377949:G:T | K920N | 0.999 |
| 17:2379065:T:A | W932R | 0.999 |
| 17:2379065:T:C | W932R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000034053 (17:2345779 G>A), RS1000084951 (17:2352655 C>T), RS1000147320 (17:2345316 G>C,T), RS1000243493 (17:2345041 C>T), RS1000260080 (17:2361818 C>T), RS1000306546 (17:2349949 G>A), RS1000409510 (17:2357816 C>T), RS1000567866 (17:2363126 G>A), RS1000592795 (17:2360777 C>T), RS1000642310 (17:2348854 T>C), RS1000694422 (17:2349119 C>T), RS1000717104 (17:2367603 G>C), RS1000758641 (17:2353741 G>A,T), RS1000822704 (17:2372358 G>A), RS1000827152 (17:2370602 C>T)
Disease associations
OMIM: gene MIM:611418 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): prostate cancer (MONDO:0008315)
Orphanet (1): Familial prostate cancer (Orphanet:1331)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000442_1 | Aortic root size | 2.000000e-11 |
| GCST001212_7 | Proinsulin levels | 3.000000e-09 |
| GCST002539_85 | Schizophrenia | 3.000000e-10 |
| GCST004521_272 | Autism spectrum disorder or schizophrenia | 7.000000e-10 |
| GCST007326_28 | Number of sexual partners | 6.000000e-11 |
| GCST008109_8 | Fasting blood proinsulin levels | 9.000000e-10 |
| GCST009524_133 | Household income (MTAG) | 4.000000e-08 |
| GCST009597_178 | Multiple sclerosis | 2.000000e-06 |
| GCST009863_25 | Insulin-related traits (multivariate analysis) | 2.000000e-10 |
| GCST010703_278 | Brain morphology (MOSTest) | 2.000000e-15 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004467 | insulin measurement |
| EFO:0009695 | household income |
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | decreases methylation, increases methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | increases expression | 1 |
| Grape Seed Proanthocyanidins | decreases expression, affects cotreatment | 1 |
| bisphenol S | decreases expression, affects cotreatment | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Catechin | decreases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Smoke | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Toluene | decreases expression, increases methylation | 1 |
| Valproic Acid | decreases expression | 1 |
| Vitamin E | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.