PRTG
geneOn this page
Also known as FLJ25756IGDCC5
Summary
PRTG (protogenin, HGNC:26373) is a protein-coding gene on chromosome 15q21.3, encoding Protogenin (Q2VWP7). May play a role in anteroposterior axis elongation.
This gene encodes a member of the immunoglobulin superfamily. The encoded transmembrane protein has been associated with the development of various tissues, especially neurogenesis. It has been suggested that this gene may be associated with attention deficit hyperactivity disorder (ADHD).
Source: NCBI Gene 283659 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 160 total
- MANE Select transcript:
NM_173814
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26373 |
| Approved symbol | PRTG |
| Name | protogenin |
| Location | 15q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ25756, IGDCC5 |
| Ensembl gene | ENSG00000166450 |
| Ensembl biotype | protein_coding |
| OMIM | 613261 |
| Entrez | 283659 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 1 retained_intron, 1 TEC
ENST00000389286, ENST00000558349, ENST00000559842, ENST00000561292, ENST00000561465, ENST00000623053
RefSeq mRNA: 1 — MANE Select: NM_173814
NM_173814
CCDS: CCDS42040
Canonical transcript exons
ENST00000389286 — 20 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001103077 | 55637170 | 55637340 |
| ENSE00001103085 | 55628822 | 55629004 |
| ENSE00001103098 | 55638549 | 55638676 |
| ENSE00001184454 | 55624342 | 55624507 |
| ENSE00001184459 | 55627008 | 55627128 |
| ENSE00001184487 | 55620663 | 55620767 |
| ENSE00001253055 | 55611544 | 55620266 |
| ENSE00001505349 | 55639642 | 55639828 |
| ENSE00001505350 | 55641113 | 55641208 |
| ENSE00001505351 | 55672445 | 55672633 |
| ENSE00001505352 | 55673371 | 55673676 |
| ENSE00001505353 | 55675519 | 55675683 |
| ENSE00001505354 | 55677797 | 55678044 |
| ENSE00001505356 | 55679286 | 55679445 |
| ENSE00001505357 | 55680054 | 55680212 |
| ENSE00001505359 | 55680491 | 55680628 |
| ENSE00001505360 | 55682364 | 55682497 |
| ENSE00001536745 | 55683787 | 55683931 |
| ENSE00001536748 | 55740382 | 55740684 |
| ENSE00001536751 | 55742838 | 55743152 |
Expression profiles
Bgee: expression breadth ubiquitous, 193 present calls, max score 97.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.1884 / max 1561.5565, expressed in 1044 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150134 | 20.6874 | 1024 |
| 150135 | 0.5722 | 143 |
| 150115 | 0.5438 | 102 |
| 150137 | 0.2905 | 100 |
| 150138 | 0.2887 | 89 |
| 150136 | 0.2105 | 86 |
| 150126 | 0.2068 | 62 |
| 150139 | 0.1823 | 91 |
| 150133 | 0.0981 | 52 |
| 150124 | 0.0586 | 34 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 97.85 | gold quality |
| secondary oocyte | CL:0000655 | 96.25 | gold quality |
| oocyte | CL:0000023 | 94.23 | gold quality |
| sperm | CL:0000019 | 87.29 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.77 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.38 | gold quality |
| endothelial cell | CL:0000115 | 82.83 | gold quality |
| thyroid gland | UBERON:0002046 | 79.42 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 78.88 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 78.68 | gold quality |
| pancreatic ductal cell | CL:0002079 | 77.93 | silver quality |
| tibia | UBERON:0000979 | 77.74 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 77.36 | gold quality |
| calcaneal tendon | UBERON:0003701 | 76.66 | gold quality |
| placenta | UBERON:0001987 | 76.32 | gold quality |
| oviduct epithelium | UBERON:0004804 | 75.02 | gold quality |
| sural nerve | UBERON:0015488 | 74.58 | gold quality |
| endometrium | UBERON:0001295 | 73.10 | gold quality |
| tibialis anterior | UBERON:0001385 | 72.67 | silver quality |
| cauda epididymis | UBERON:0004360 | 71.18 | gold quality |
| colonic epithelium | UBERON:0000397 | 71.04 | gold quality |
| adrenal tissue | UBERON:0018303 | 69.75 | gold quality |
| visceral pleura | UBERON:0002401 | 68.92 | gold quality |
| uterus | UBERON:0000995 | 68.50 | gold quality |
| body of uterus | UBERON:0009853 | 68.30 | gold quality |
| lower lobe of lung | UBERON:0008949 | 68.27 | silver quality |
| tendon | UBERON:0000043 | 68.02 | gold quality |
| medial globus pallidus | UBERON:0002477 | 67.96 | silver quality |
| testis | UBERON:0000473 | 67.06 | gold quality |
| cartilage tissue | UBERON:0002418 | 66.32 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-75140 | yes | 860.27 |
| E-MTAB-10018 | yes | 631.84 |
| E-HCAD-56 | yes | 323.64 |
| E-MTAB-9388 | yes | 10.15 |
| E-ANND-3 | yes | 10.05 |
| E-MTAB-8205 | no | 444.70 |
| E-MTAB-8271 | no | 7.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
469 targeting PRTG, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
Literature-anchored findings (GeneRIF, showing 4)
- Identified association of attention deficit hyperactivity disorder (ADHD) to Protogenin (PRTG), a gene that potentially plays a role in cell migration and axon growth. (PMID:19076634)
- PRTG is regulated by miRNA9, plays an inhibitory action on survival of chondroblasts and articular chondrocytes during chondrogenesis and osteoarthritis pathogenesis. (PMID:24007463)
- We found that a burden of low-frequency coding variants in N4BP2, CDSN, PRTG, and AHRR were associated with increased risk of Nonsyndromic cleft lip with or without cleft palate (NSCL/P) . Low-frequency variants in other genes were associated with decreased risk of NSCL/P. These results demonstrate that low-frequency variants contribute to the genetic etiology of NSCL/P (PMID:28425186)
- The novel ZEB1-upregulated protein PRTG induced by Helicobacter pylori infection promotes gastric carcinogenesis through the cGMP/PKG signaling pathway. (PMID:33542225)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | prtga | ENSDARG00000100044 |
| mus_musculus | Prtg | ENSMUSG00000036030 |
| rattus_norvegicus | Prtg | ENSRNOG00000055251 |
Paralogs (36): CNTN1 (ENSG00000018236), CDON (ENSG00000064309), NEO1 (ENSG00000067141), SDK2 (ENSG00000069188), IGSF9B (ENSG00000080854), IGSF9 (ENSG00000085552), NRCAM (ENSG00000091129), MXRA5 (ENSG00000101825), IGDCC4 (ENSG00000103742), CNTN3 (ENSG00000113805), IGSF21 (ENSG00000117154), CNTN6 (ENSG00000134115), CHL1 (ENSG00000134121), PTPRQ (ENSG00000139304), CNTN4 (ENSG00000144619), BOC (ENSG00000144857), SDK1 (ENSG00000146555), HMCN2 (ENSG00000148357), NCAM1 (ENSG00000149294), CNTN5 (ENSG00000149972), IGSF10 (ENSG00000152580), ROBO4 (ENSG00000154133), ROBO3 (ENSG00000154134), NCAM2 (ENSG00000154654), VCAM1 (ENSG00000162692), NFASC (ENSG00000163531), ROBO1 (ENSG00000169855), DSCAM (ENSG00000171587), IGDCC3 (ENSG00000174498), VSIG10 (ENSG00000176834), DSCAML1 (ENSG00000177103), CNTN2 (ENSG00000184144), ROBO2 (ENSG00000185008), VSIG10L (ENSG00000186806), DCC (ENSG00000187323), L1CAM (ENSG00000198910)
Protein
Protein identifiers
Protogenin — Q2VWP7 (reviewed: Q2VWP7)
Alternative names: Protein Shen-Dan
All UniProt accessions (4): Q2VWP7, H0YKD6, H0YLD1, H0YLT7
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in anteroposterior axis elongation.
Subcellular location. Membrane.
Similarity. Belongs to the immunoglobulin superfamily. DCC family.
RefSeq proteins (1): NP_776175* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
Pfam: PF00041, PF07679, PF13927
UniProt features (30 total): domain 9, compositionally biased region 4, disulfide bond 4, glycosylation site 3, sequence variant 3, region of interest 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2VWP7-F1 | 74.18 | 0.29 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (4): 60–113, 156–205, 256–304, 348–395
Glycosylation sites (3): 90, 488, 630
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 186 (showing top):
GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_CELL_CELL_ADHESION, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, TGTGTGA_MIR377, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, GOBP_REGULATION_OF_CELL_DEVELOPMENT, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, ATGTTTC_MIR494
GO Biological Process (2): negative regulation of neurogenesis (GO:0050768), cell-cell adhesion (GO:0098609)
GO Molecular Function (3): signaling receptor activity (GO:0038023), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (3): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of cell development | 1 |
| neurogenesis | 1 |
| regulation of neurogenesis | 1 |
| negative regulation of nervous system development | 1 |
| cell adhesion | 1 |
| molecular transducer activity | 1 |
| protein binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
748 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRTG | LRFN2 | Q9ULH4 | 540 |
| PRTG | DAZAP2 | Q15038 | 480 |
| PRTG | ERICH6B | Q5W0A0 | 413 |
| PRTG | LRRC63 | Q05C16 | 387 |
| PRTG | N4BP2 | Q86UW6 | 380 |
| PRTG | CHMP4B | Q9H444 | 368 |
| PRTG | NGF | P01138 | 359 |
| PRTG | AMOTL1 | Q8IY63 | 353 |
| PRTG | KANSL3 | Q9P2N6 | 349 |
| PRTG | LIN28B | Q6ZN17 | 344 |
| PRTG | CGNL1 | Q0VF96 | 343 |
| PRTG | VWC2 | Q2TAL6 | 339 |
| PRTG | IGSF11 | Q5DX21 | 333 |
| PRTG | TAL2 | Q16559 | 325 |
| PRTG | GUCY1A2 | P33402 | 322 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRTG | ICAM5 | psi-mi:“MI:0915”(physical association) | 0.540 |
| PRTG | WFIKKN2 | psi-mi:“MI:0915”(physical association) | 0.540 |
| ICAM5 | PRTG | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| PRTG | WFIKKN2 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| TMEM30B | KLRG2 | psi-mi:“MI:0914”(association) | 0.530 |
| FCGRT | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| PRTG | LTF | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PRTG | IGFBPL1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PRTG | IGFBP7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| HAPLN1 | PRTG | psi-mi:“MI:0915”(physical association) | 0.400 |
| IL1RAPL2 | PRTG | psi-mi:“MI:0915”(physical association) | 0.400 |
| LRRTM2 | PRTG | psi-mi:“MI:0915”(physical association) | 0.400 |
| ISLR2 | PRTG | psi-mi:“MI:0915”(physical association) | 0.400 |
| MICA | PRTG | psi-mi:“MI:0915”(physical association) | 0.400 |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| DISC1 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| GDF11 | TSPY2 | psi-mi:“MI:0914”(association) | 0.350 |
| NRSN1 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| RYK | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| MSTN | GDF11 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (13): PRTG (Affinity Capture-MS), PRTG (Affinity Capture-MS), PRTG (Affinity Capture-MS), PRTG (Affinity Capture-RNA), PRTG (Affinity Capture-MS), PRTG (Affinity Capture-MS), PRTG (Affinity Capture-MS), PRTG (Affinity Capture-MS), PRTG (Affinity Capture-MS), PRTG (Affinity Capture-MS), PRTG (Affinity Capture-MS), PRTG (Affinity Capture-MS), RRP9 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A2A8L5, A4IFW2, A7MBJ4, B0V2N1, F1NWE3, O00533, O42414, O55005, O89026, O94856, O97394, P10586, P11627, P16621, P22063, P23468, P28685, P32004, P70232, P97685, P97686, Q02246, Q05695, Q13332, Q28902, Q2EY14, Q2EY15, Q2VWP7, Q2VWP9, Q3UH53, Q589G5, Q58EX2, Q61330, Q64487, Q64604, Q64605, Q6V4S5, Q7Z5N4, Q810U3, Q810U4
Diamond homologs: A2AAJ9, A2ABU4, O88599, P12960, P14781, P28685, P52179, P54296, P68500, P70402, P97527, P97528, Q02173, Q07409, Q12860, Q13203, Q14896, Q28106, Q2EY15, Q2VWP7, Q2VWP9, Q589G5, Q5PQM4, Q5VTT5, Q62234, Q62682, Q63198, Q7ZW34, Q86TB3, Q91ZB0, Q924C5, Q96JA1, Q96L96, Q98936, Q9P232, A0A452E9Y6, A1KZ92, A2ASS6, A4IGL7, A5JUY8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
160 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 138 |
| Likely benign | 8 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3345 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:55625290:AAT:A | donor_gain | 1.0000 |
| 15:55625315:AAC:A | donor_gain | 1.0000 |
| 15:55627019:T:TA | donor_gain | 1.0000 |
| 15:55627129:C:CC | acceptor_gain | 1.0000 |
| 15:55637165:TTTA:T | donor_loss | 1.0000 |
| 15:55637166:TTA:T | donor_loss | 1.0000 |
| 15:55637167:TAC:T | donor_loss | 1.0000 |
| 15:55637169:C:CA | donor_loss | 1.0000 |
| 15:55637195:T:A | donor_gain | 1.0000 |
| 15:55637336:TGGTG:T | acceptor_gain | 1.0000 |
| 15:55637337:GGTG:G | acceptor_gain | 1.0000 |
| 15:55637338:GTG:G | acceptor_gain | 1.0000 |
| 15:55637339:TG:T | acceptor_gain | 1.0000 |
| 15:55637341:C:CC | acceptor_gain | 1.0000 |
| 15:55637343:G:C | acceptor_gain | 1.0000 |
| 15:55637343:G:GC | acceptor_gain | 1.0000 |
| 15:55637346:C:CT | acceptor_gain | 1.0000 |
| 15:55637350:C:CT | acceptor_gain | 1.0000 |
| 15:55638543:CTTTA:C | donor_loss | 1.0000 |
| 15:55638544:TTTAC:T | donor_loss | 1.0000 |
| 15:55638545:TTACC:T | donor_loss | 1.0000 |
| 15:55638546:TACCT:T | donor_loss | 1.0000 |
| 15:55638547:A:AT | donor_loss | 1.0000 |
| 15:55638548:CCTT:C | donor_gain | 1.0000 |
| 15:55638548:CCTTC:C | donor_loss | 1.0000 |
| 15:55638672:CTGAT:C | acceptor_gain | 1.0000 |
| 15:55638673:TGAT:T | acceptor_gain | 1.0000 |
| 15:55638675:ATC:A | acceptor_loss | 1.0000 |
| 15:55638676:TC:T | acceptor_loss | 1.0000 |
| 15:55638677:C:CA | acceptor_loss | 1.0000 |
AlphaMissense
7450 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:55628950:A:T | V893D | 1.000 |
| 15:55637275:A:G | W840R | 1.000 |
| 15:55637275:A:T | W840R | 1.000 |
| 15:55677861:C:A | W439C | 1.000 |
| 15:55677861:C:G | W439C | 1.000 |
| 15:55677863:A:G | W439R | 1.000 |
| 15:55677863:A:T | W439R | 1.000 |
| 15:55680117:A:G | C304R | 1.000 |
| 15:55680161:A:G | L289P | 1.000 |
| 15:55680501:C:A | W268C | 1.000 |
| 15:55680501:C:G | W268C | 1.000 |
| 15:55680503:A:G | W268R | 1.000 |
| 15:55680503:A:T | W268R | 1.000 |
| 15:55682433:A:C | Y203D | 1.000 |
| 15:55683825:C:A | W168C | 1.000 |
| 15:55683825:C:G | W168C | 1.000 |
| 15:55683827:A:G | W168R | 1.000 |
| 15:55683827:A:T | W168R | 1.000 |
| 15:55628944:A:C | I895R | 0.999 |
| 15:55628944:A:T | I895K | 0.999 |
| 15:55637273:C:A | W840C | 0.999 |
| 15:55637273:C:G | W840C | 0.999 |
| 15:55637274:C:G | W840S | 0.999 |
| 15:55637280:A:T | V838D | 0.999 |
| 15:55638617:A:T | V795D | 0.999 |
| 15:55638623:A:G | F793S | 0.999 |
| 15:55639742:A:G | W742R | 0.999 |
| 15:55639742:A:T | W742R | 0.999 |
| 15:55672528:A:G | L653P | 0.999 |
| 15:55672574:A:G | W638R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000016155 (15:55671456 G>A), RS1000016587 (15:55691273 G>T), RS1000030533 (15:55624107 A>G), RS1000061945 (15:55659608 T>C), RS1000085823 (15:55708232 C>A), RS1000100251 (15:55666673 A>G), RS1000155601 (15:55655742 T>C), RS1000177001 (15:55734129 G>A), RS1000197404 (15:55695937 C>G,T), RS1000229965 (15:55679128 C>T), RS1000304954 (15:55684782 G>A,C), RS1000318428 (15:55618467 C>A,T), RS1000359475 (15:55673035 T>C), RS1000371672 (15:55612590 T>G), RS1000403122 (15:55690550 T>A,C)
Disease associations
OMIM: gene MIM:613261 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002004_4 | Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin) | 9.000000e-07 |
| GCST003998_13 | Joint mobility (Beighton score) | 1.000000e-08 |
| GCST004713_7 | Testicular germ cell tumor | 1.000000e-11 |
| GCST005580_89 | Intraocular pressure | 4.000000e-11 |
| GCST007325_18 | General risk tolerance (MTAG) | 3.000000e-08 |
| GCST007401_22 | Factor VII activity | 2.000000e-06 |
| GCST010703_182 | Brain morphology (MOSTest) | 5.000000e-11 |
| GCST012489_44 | Heel bone mineral density x serum urate levels interaction | 1.000000e-11 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007905 | joint hypermobility measurement |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004619 | factor VII measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004531 | urate measurement |
| EFO:0009270 | heel bone mineral density |
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 |
|---|---|---|
| Valproic Acid | decreases expression, increases expression, affects expression | 4 |
| Ethanol | affects cotreatment, increases expression, decreases expression | 3 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| nickel sulfate | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| abrine | decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Folic Acid | affects cotreatment, increases expression | 1 |
| Lead | affects methylation | 1 |
| Nickel | decreases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Urethane | increases expression | 1 |
| Vanadates | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Cadmium Chloride | decreases 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
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): testicular germ cell tumor