PRAMEF13
gene geneOn this page
Summary
PRAMEF13 (PRAME family member 13, HGNC:13262) is a protein-coding gene on chromosome 1p36.21, encoding PRAME family member 13 (Q5VWM6).
Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul2-RING ubiquitin ligase complex. Predicted to be active in cytoplasm.
Source: NCBI Gene 400736 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 3 total
- MANE Select transcript:
NM_001291380
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13262 |
| Approved symbol | PRAMEF13 |
| Name | PRAME family member 13 |
| Location | 1p36.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000279169 |
| Ensembl biotype | protein_coding |
| Entrez | 400736 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000625019, ENST00000638454
RefSeq mRNA: 1 — MANE Select: NM_001291380
NM_001291380
CCDS: CCDS85927
Canonical transcript exons
ENST00000625019 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001613774 | 13199303 | 13199614 |
| ENSE00003756991 | 13198328 | 13198906 |
| ENSE00003796551 | 13196188 | 13197381 |
| ENSE00003801724 | 13201332 | 13201409 |
Expression profiles
Bgee: expression breadth tissue_specific, 3 present calls, max score 73.71.
Top tissues by expression
131 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 73.71 | silver quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| sural nerve | UBERON:0015488 | 36.59 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| bone marrow cell | CL:0002092 | 36.16 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 33.38 | gold quality |
| muscle tissue | UBERON:0002385 | 32.24 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| liver | UBERON:0002107 | 29.33 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.20 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
| monocyte | CL:0000576 | 27.96 | gold quality |
| leukocyte | CL:0000738 | 27.93 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 27.79 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| blood | UBERON:0000178 | 27.07 | gold quality |
| tonsil | UBERON:0002372 | 27.05 | gold quality |
| calcaneal tendon | UBERON:0003701 | 26.64 | gold quality |
| islet of Langerhans | UBERON:0000006 | 26.55 | gold quality |
| vermiform appendix | UBERON:0001154 | 26.42 | gold quality |
| gall bladder | UBERON:0002110 | 25.98 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 25.89 | gold quality |
| placenta | UBERON:0001987 | 25.81 | gold quality |
| urinary bladder | UBERON:0001255 | 25.72 | gold quality |
| muscle of leg | UBERON:0001383 | 25.56 | gold quality |
| adrenal tissue | UBERON:0018303 | 25.06 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
34 targeting PRAMEF13, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-187-5P | 99.74 | 70.26 | 1404 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-4762-3P | 99.43 | 69.72 | 2363 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-548V | 99.29 | 69.47 | 1157 |
| HSA-MIR-4705 | 99.10 | 69.10 | 1091 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-3145-3P | 98.85 | 69.07 | 2031 |
| HSA-MIR-502-5P | 98.77 | 66.51 | 906 |
| HSA-MIR-302F | 98.44 | 69.02 | 1776 |
| HSA-MIR-495-5P | 97.62 | 68.28 | 682 |
| HSA-MIR-500A-3P | 97.60 | 67.48 | 595 |
| HSA-MIR-1271-3P | 97.56 | 64.85 | 865 |
| HSA-MIR-550A-3-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-550A-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-4456 | 97.50 | 64.88 | 1678 |
| HSA-MIR-708-3P | 97.50 | 68.67 | 1082 |
| HSA-MIR-3116 | 97.07 | 65.78 | 1324 |
Cross-species orthologs
125 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | si:ch73-174h16.4 | ENSDARG00000036493 |
| mus_musculus | Pramel6 | ENSMUSG00000025838 |
| mus_musculus | Pramel7 | ENSMUSG00000025839 |
| mus_musculus | Pramel13 | ENSMUSG00000028591 |
| mus_musculus | Pramel27 | ENSMUSG00000029451 |
| mus_musculus | Pramel17 | ENSMUSG00000035201 |
| mus_musculus | Pramel5 | ENSMUSG00000036749 |
| mus_musculus | Pramel18 | ENSMUSG00000037028 |
| mus_musculus | Pramel32 | ENSMUSG00000038330 |
| mus_musculus | Pramel1 | ENSMUSG00000041805 |
| mus_musculus | C130073F10Rik | ENSMUSG00000046133 |
| mus_musculus | Pramel29 | ENSMUSG00000046262 |
| mus_musculus | Pramel24 | ENSMUSG00000046435 |
| mus_musculus | Pramel12 | ENSMUSG00000046862 |
| mus_musculus | Oog4 | ENSMUSG00000047799 |
| mus_musculus | Oog3 | ENSMUSG00000050810 |
| mus_musculus | Pramel26 | ENSMUSG00000059218 |
| mus_musculus | Pramel51 | ENSMUSG00000066027 |
| mus_musculus | Oog2 | ENSMUSG00000066030 |
| mus_musculus | Pramel25 | ENSMUSG00000066031 |
| mus_musculus | Pramel21 | ENSMUSG00000066688 |
| mus_musculus | Gm13040 | ENSMUSG00000070616 |
| mus_musculus | Pramel23 | ENSMUSG00000070617 |
| mus_musculus | Pramel20 | ENSMUSG00000070618 |
| mus_musculus | Pramel31 | ENSMUSG00000070619 |
| mus_musculus | Pramel48 | ENSMUSG00000070677 |
| mus_musculus | Pramel34 | ENSMUSG00000070686 |
| mus_musculus | Pramel19 | ENSMUSG00000070890 |
| mus_musculus | Pramel55 | ENSMUSG00000072813 |
| mus_musculus | Pramel54 | ENSMUSG00000072814 |
| mus_musculus | Pramel53 | ENSMUSG00000072821 |
| mus_musculus | Pramel37 | ENSMUSG00000072822 |
| mus_musculus | Pramel15 | ENSMUSG00000073721 |
| mus_musculus | Pramel61 | ENSMUSG00000073723 |
| mus_musculus | Pramel4 | ENSMUSG00000073724 |
| mus_musculus | Pramel41 | ENSMUSG00000074011 |
| ENSMUSG00000074720 | ||
| mus_musculus | Pramel30 | ENSMUSG00000078508 |
| mus_musculus | Pramel14 | ENSMUSG00000078509 |
| mus_musculus | Pramel28 | ENSMUSG00000078510 |
| mus_musculus | Pramel16 | ENSMUSG00000078511 |
| mus_musculus | Pramel11 | ENSMUSG00000078512 |
| mus_musculus | Pramel22 | ENSMUSG00000078513 |
| mus_musculus | Prame62 | ENSMUSG00000078625 |
| mus_musculus | Gm12790 | ENSMUSG00000078626 |
| mus_musculus | Pramel57 | ENSMUSG00000079423 |
| mus_musculus | Pramel47 | ENSMUSG00000079424 |
| ENSMUSG00000091585 | ||
| mus_musculus | Pramel45 | ENSMUSG00000092166 |
| mus_musculus | Pramel49 | ENSMUSG00000094043 |
| ENSMUSG00000094172 | ||
| mus_musculus | Pramel44 | ENSMUSG00000094195 |
| ENSMUSG00000094303 | ||
| ENSMUSG00000094337 | ||
| ENSMUSG00000094383 | ||
| ENSMUSG00000094474 | ||
| ENSMUSG00000094722 | ||
| ENSMUSG00000094741 | ||
| ENSMUSG00000094791 | ||
| ENSMUSG00000094836 | ||
| ENSMUSG00000094855 | ||
| ENSMUSG00000094887 | ||
| mus_musculus | Pramel42 | ENSMUSG00000095074 |
| mus_musculus | Gm13043 | ENSMUSG00000095409 |
| ENSMUSG00000095475 | ||
| mus_musculus | Pramel43 | ENSMUSG00000095503 |
| ENSMUSG00000095505 | ||
| ENSMUSG00000095523 | ||
| ENSMUSG00000095570 | ||
| ENSMUSG00000095666 | ||
| mus_musculus | Pramel40 | ENSMUSG00000095718 |
| ENSMUSG00000095763 | ||
| mus_musculus | Pramel56 | ENSMUSG00000095954 |
| mus_musculus | Pramel60 | ENSMUSG00000095996 |
| mus_musculus | Pramel33 | ENSMUSG00000096044 |
| mus_musculus | Pramel46 | ENSMUSG00000096066 |
| mus_musculus | Pramel50 | ENSMUSG00000096139 |
| mus_musculus | Gm13057 | ENSMUSG00000096154 |
| mus_musculus | Pramel36 | ENSMUSG00000096230 |
| ENSMUSG00000096236 | ||
| mus_musculus | Pramel38 | ENSMUSG00000096259 |
| mus_musculus | Gm2042 | ENSMUSG00000096276 |
| ENSMUSG00000096550 | ||
| mus_musculus | Oog1 | ENSMUSG00000096576 |
| ENSMUSG00000096680 | ||
| ENSMUSG00000096728 | ||
| ENSMUSG00000096756 | ||
| mus_musculus | Pramel35 | ENSMUSG00000107392 |
| rattus_norvegicus | Pramel6 | ENSRNOG00000021920 |
| rattus_norvegicus | Pramel7 | ENSRNOG00000021949 |
| rattus_norvegicus | Pramef25 | ENSRNOG00000027000 |
| rattus_norvegicus | Oog3 | ENSRNOG00000027142 |
| rattus_norvegicus | Pramef8 | ENSRNOG00000027278 |
| rattus_norvegicus | Pramef27 | ENSRNOG00000027328 |
| rattus_norvegicus | Oog1 | ENSRNOG00000033000 |
| rattus_norvegicus | Pramef12 | ENSRNOG00000037035 |
| rattus_norvegicus | Oog3l1 | ENSRNOG00000037039 |
| rattus_norvegicus | Pramef17 | ENSRNOG00000042820 |
| rattus_norvegicus | Pramel36 | ENSRNOG00000043130 |
| rattus_norvegicus | Oog3l2 | ENSRNOG00000045614 |
| rattus_norvegicus | Pramel36l1 | ENSRNOG00000046931 |
| rattus_norvegicus | LOC120103107 | ENSRNOG00000047341 |
| rattus_norvegicus | Pramef20 | ENSRNOG00000053942 |
| rattus_norvegicus | LOC134481896 | ENSRNOG00000062749 |
| rattus_norvegicus | Pramel53l1 | ENSRNOG00000063444 |
| rattus_norvegicus | LOC120096511 | ENSRNOG00000063633 |
| rattus_norvegicus | Pramel36l1 | ENSRNOG00000064574 |
| rattus_norvegicus | Pramef20l1 | ENSRNOG00000065680 |
| rattus_norvegicus | ENSRNOG00000065869 | |
| rattus_norvegicus | LOC134481897 | ENSRNOG00000067003 |
| rattus_norvegicus | Pramef8l2 | ENSRNOG00000067042 |
| rattus_norvegicus | Pramel34 | ENSRNOG00000067111 |
| rattus_norvegicus | Pramef5 | ENSRNOG00000067307 |
| rattus_norvegicus | Pramef20-ps1 | ENSRNOG00000067899 |
| rattus_norvegicus | ENSRNOG00000071611 | |
| rattus_norvegicus | ENSRNOG00000072535 | |
| rattus_norvegicus | ENSRNOG00000073402 | |
| rattus_norvegicus | ENSRNOG00000073978 | |
| rattus_norvegicus | ENSRNOG00000075698 | |
| rattus_norvegicus | ENSRNOG00000077508 | |
| rattus_norvegicus | ENSRNOG00000083237 | |
| rattus_norvegicus | ENSRNOG00000084642 | |
| rattus_norvegicus | ENSRNOG00000086814 | |
| rattus_norvegicus | ENSRNOG00000088869 | |
| rattus_norvegicus | ENSRNOG00000089019 |
Paralogs (24): PRAMEF1 (ENSG00000116721), PRAMEF12 (ENSG00000116726), PRAMEF2 (ENSG00000120952), LRRC14 (ENSG00000160959), PRAMEF8 (ENSG00000182330), LRRC14B (ENSG00000185028), PRAME (ENSG00000185686), PRAMEF10 (ENSG00000187545), PRAMEF20 (ENSG00000204478), PRAMEF17 (ENSG00000204479), PRAMEF19 (ENSG00000204480), PRAMEF14 (ENSG00000204481), PRAMEF15 (ENSG00000204501), PRAMEF9 (ENSG00000204505), PRAMEF7 (ENSG00000204510), PRAMEF25 (ENSG00000229571), PRAMEF6 (ENSG00000232423), PRAMEF33 (ENSG00000237700), PRAMEF11 (ENSG00000239810), PRAMEF4 (ENSG00000243073), PRAMEF5 (ENSG00000270601), PRAMEF27 (ENSG00000274764), PRAMEF18 (ENSG00000279804), PRAMEF26 (ENSG00000280267)
Protein
Protein identifiers
PRAME family member 13 — Q5VWM6 (reviewed: Q5VWM6)
All UniProt accessions (2): A0A1W2PPB9, Q5VWM6
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the PRAME family.
RefSeq proteins (1): NP_001278309* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026271 | PRAME | Family |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR050694 | LRRC14/PRAME | Family |
UniProt features (10 total): repeat 9, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VWM6-F1 | 82.41 | 0.48 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 33 (showing top):
GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX, GOCC_UBIQUITIN_LIGASE_COMPLEX, chr1p36, GOBP_POSITIVE_REGULATION_OF_CELL_POPULATION_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOCC_CUL2_RING_UBIQUITIN_LIGASE_COMPLEX, MIR3646, MIR126_5P, MIR511_5P
GO Biological Process (5): positive regulation of cell population proliferation (GO:0008284), negative regulation of apoptotic process (GO:0043066), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), negative regulation of cell differentiation (GO:0045596), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (1): ubiquitin-like ligase-substrate adaptor activity (GO:1990756)
GO Cellular Component (2): cytoplasm (GO:0005737), Cul2-RING ubiquitin ligase complex (GO:0031462)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| positive regulation of cellular process | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| cell differentiation | 1 |
| regulation of cell differentiation | 1 |
| negative regulation of cellular process | 1 |
| negative regulation of developmental process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| enzyme-substrate adaptor activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
2065 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRAMEF13 | RFPL3 | O75679 | 547 |
| PRAMEF13 | RFPL2 | O75678 | 531 |
| PRAMEF13 | KHDC1L | Q5JSQ8 | 507 |
| PRAMEF13 | TRIM48 | Q8IWZ4 | 505 |
| PRAMEF13 | RFPL1 | O75677 | 503 |
| PRAMEF13 | TRIM49 | P0CI25 | 479 |
| PRAMEF13 | TRIM51 | Q9BSJ1 | 477 |
| PRAMEF13 | KHDC1 | Q4VXA5 | 419 |
| PRAMEF13 | TARBP1 | Q13395 | 405 |
| PRAMEF13 | TRIM43 | Q96BQ3 | 397 |
| PRAMEF13 | MBD3L2 | Q8NHZ7 | 396 |
| PRAMEF13 | RHPN2 | Q8IUC4 | 389 |
| PRAMEF13 | IGFN1 | Q86VF2 | 378 |
| PRAMEF13 | PPP2R3B | Q9Y5P8 | 369 |
| PRAMEF13 | GOLGA8J | A6NMD2 | 352 |
IntAct
0 interactions, top by confidence:
ESM2 similar proteins: A0A0G2JMD5, A1Z198, A3QJZ6, A3QJZ7, A6NGN4, D9I2F9, D9I2G1, D9I2G3, D9I2G4, D9I2H0, E9Q5G7, H0Y7S4, O60809, O60810, O60811, O60813, O95521, O95522, P0DUQ1, P0DUQ2, P78395, Q0GKD5, Q288C4, Q2LKU9, Q2LKV5, Q2LKW6, Q3TKR3, Q3UWY1, Q5SWL7, Q5SWL8, Q5TYX0, Q5VT98, Q5VTA0, Q5VWM3, Q5VWM4, Q5VWM6, Q5VXH4, Q5VXH5, Q66X05, Q66X19
Diamond homologs: A0A0G2JMD5, A3QJZ6, A3QJZ7, A6NGN4, E9Q5G7, H0Y7S4, O60809, O60810, O60811, O60813, O95521, O95522, P0DUQ1, P0DUQ2, P78395, Q3UWY1, Q5SWL7, Q5SWL8, Q5TYX0, Q5VT98, Q5VTA0, Q5VWM3, Q5VWM4, Q5VWM6, Q5VXH4, Q5VXH5, Q7TPX8, Q810Y8, Q99MW3, Q3UJB3, A5PJJ5, Q15048, Q569B5, A6NHZ5, Q640Z9, P59047, Q7TSF4, Q8NAA5, Q8VC16
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
3 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
3090 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:13197349:A:G | L300S | 0.896 |
| 1:13196994:A:C | S418R | 0.894 |
| 1:13196994:A:T | S418R | 0.894 |
| 1:13196996:T:G | S418R | 0.894 |
| 1:13199407:G:C | F61L | 0.892 |
| 1:13199407:G:T | F61L | 0.892 |
| 1:13199409:A:G | F61L | 0.892 |
| 1:13199415:A:G | W59R | 0.870 |
| 1:13199415:A:T | W59R | 0.870 |
| 1:13199458:G:C | F44L | 0.870 |
| 1:13199458:G:T | F44L | 0.870 |
| 1:13199460:A:G | F44L | 0.870 |
| 1:13197181:A:G | L356S | 0.858 |
| 1:13196895:G:C | F451L | 0.857 |
| 1:13196895:G:T | F451L | 0.857 |
| 1:13196897:A:G | F451L | 0.857 |
| 1:13197018:C:A | E410D | 0.857 |
| 1:13197018:C:G | E410D | 0.857 |
| 1:13197096:A:C | F384L | 0.853 |
| 1:13197096:A:T | F384L | 0.853 |
| 1:13197098:A:G | F384L | 0.853 |
| 1:13197355:A:G | L298S | 0.848 |
| 1:13198565:A:G | L210P | 0.842 |
| 1:13197166:A:G | I361T | 0.835 |
| 1:13197087:A:C | N387K | 0.830 |
| 1:13197087:A:T | N387K | 0.830 |
| 1:13197112:A:T | L379H | 0.829 |
| 1:13197187:A:T | L354H | 0.828 |
| 1:13198684:C:A | W170C | 0.825 |
| 1:13198684:C:G | W170C | 0.825 |
dbSNP variants (sampled 300 via entrez): RS10927934 (1:13196202 T>C), RS11485058 (1:13197681 G>A), RS1156918224 (1:13201121 A>G), RS1156975625 (1:13202295 G>T), RS1157112925 (1:13199826 G>A), RS1157355751 (1:13196172 T>C), RS1157562540 (1:13203366 A>C), RS1157752153 (1:13199004 G>A,T), RS1157787613 (1:13196716 A>G,T), RS1158420736 (1:13197746 G>A), RS1158755368 (1:13201676 G>A,C), RS1158851729 (1:13199419 C>G), RS1158928633 (1:13202892 A>G), RS1160397593 (1:13201226 G>A), RS1160508063 (1:13199939 G>A,C,T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
2 total (human), top 2 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic Trioxide | increases expression | 1 |
| Ascorbic Acid | 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.