PRAMEF10
gene geneOn this page
Summary
PRAMEF10 (PRAME family member 10, HGNC:27997) is a protein-coding gene on chromosome 1p36.21, encoding PRAME family member 10 (O60809).
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 343071 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 8 total
- MANE Select transcript:
NM_001039361
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:27997 |
| Approved symbol | PRAMEF10 |
| Name | PRAME family member 10 |
| Location | 1p36.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000187545 |
| Ensembl biotype | protein_coding |
| Entrez | 343071 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000235347, ENST00000966578
RefSeq mRNA: 1 — MANE Select: NM_001039361
NM_001039361
CCDS: CCDS41255
Canonical transcript exons
ENST00000235347 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001145184 | 12892896 | 12893474 |
| ENSE00001629893 | 12898216 | 12898270 |
| ENSE00001691238 | 12894586 | 12895164 |
| ENSE00001709206 | 12895561 | 12895872 |
Expression profiles
Bgee: expression breadth tissue_specific, 3 present calls, max score 42.68.
Top tissues by expression
127 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| liver | UBERON:0002107 | 42.68 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | 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 |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| right lobe of liver | UBERON:0001114 | 32.07 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| muscle tissue | UBERON:0002385 | 31.06 | gold quality |
| sural nerve | UBERON:0015488 | 30.93 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.34 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| tonsil | UBERON:0002372 | 27.05 | gold quality |
| islet of Langerhans | UBERON:0000006 | 26.55 | gold quality |
| vermiform appendix | UBERON:0001154 | 26.42 | gold quality |
| blood | UBERON:0000178 | 26.21 | 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 |
| leukocyte | CL:0000738 | 25.33 | gold quality |
| muscle of leg | UBERON:0001383 | 25.19 | gold quality |
| monocyte | CL:0000576 | 25.11 | gold quality |
| primary visual cortex | UBERON:0002436 | 24.61 | gold quality |
| pancreas | UBERON:0001264 | 24.33 | gold quality |
| uterine cervix | UBERON:0000002 | 24.09 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 24.08 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
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), 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), PRAMEF13 (ENSG00000279169), PRAMEF18 (ENSG00000279804), PRAMEF26 (ENSG00000280267)
Protein
Protein identifiers
PRAME family member 10 — O60809 (reviewed: O60809)
All UniProt accessions (1): O60809
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the PRAME family.
RefSeq proteins (1): NP_001034450* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026271 | PRAME | Family |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR050694 | LRRC14/PRAME | Family |
UniProt features (17 total): repeat 9, sequence variant 4, sequence conflict 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60809-F1 | 76.98 | 0.34 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 38 (showing top):
GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, CHIANG_LIVER_CANCER_SUBCLASS_INTERFERON_UP, 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, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY
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 (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
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 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
300 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRAMEF10 | OR11H12 | B2RN74 | 577 |
| PRAMEF10 | WASHC2A | Q641Q2 | 519 |
| PRAMEF10 | OR11H1 | Q8NG94 | 507 |
| PRAMEF10 | WASHC2C | Q9Y4E1 | 505 |
| PRAMEF10 | EOLA2 | Q96DE9 | 476 |
| PRAMEF10 | ZNF717 | Q9BY31 | 475 |
| PRAMEF10 | OTOA | Q7RTW8 | 420 |
| PRAMEF10 | RFPL4B | Q6ZWI9 | 371 |
| PRAMEF10 | ZSCAN5A | Q9BUG6 | 356 |
| PRAMEF10 | ZSWIM3 | Q96MP5 | 318 |
| PRAMEF10 | ZIK1 | Q3SY52 | 310 |
| PRAMEF10 | CYP21A2 | P04033 | 309 |
| PRAMEF10 | C21orf91 | Q9NYK6 | 263 |
| PRAMEF10 | CCSAP | Q6IQ19 | 261 |
| PRAMEF10 | SPINK1 | P00995 | 250 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRAMEF10 | AIP | psi-mi:“MI:0915”(physical association) | 0.590 |
| PRAMEF17 | AIP | psi-mi:“MI:0914”(association) | 0.530 |
| DOK4 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
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
8 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 8 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
632 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:12893014:C:A | donor_gain | 1.0000 |
| 1:12893475:CT:C | acceptor_loss | 1.0000 |
| 1:12893476:T:A | acceptor_loss | 1.0000 |
| 1:12894585:C:CA | donor_loss | 1.0000 |
| 1:12894585:C:T | donor_loss | 1.0000 |
| 1:12895557:TCA:T | donor_loss | 1.0000 |
| 1:12895560:CC:C | donor_loss | 1.0000 |
| 1:12895871:CT:C | acceptor_gain | 1.0000 |
| 1:12893013:T:TA | donor_gain | 0.9900 |
| 1:12893091:T:A | donor_gain | 0.9900 |
| 1:12893470:GGTAC:G | acceptor_gain | 0.9900 |
| 1:12893472:TAC:T | acceptor_gain | 0.9900 |
| 1:12893475:C:CC | acceptor_gain | 0.9900 |
| 1:12895559:ACCT:A | donor_loss | 0.9900 |
| 1:12895868:AAACT:A | acceptor_gain | 0.9900 |
| 1:12895872:TCTA:T | acceptor_loss | 0.9900 |
| 1:12895873:C:CC | acceptor_gain | 0.9900 |
| 1:12895874:T:A | acceptor_loss | 0.9900 |
| 1:12892914:C:A | donor_gain | 0.9800 |
| 1:12893070:TG:T | donor_gain | 0.9800 |
| 1:12893122:A:C | donor_gain | 0.9800 |
| 1:12893471:GTAC:G | acceptor_gain | 0.9800 |
| 1:12893472:TACC:T | acceptor_loss | 0.9800 |
| 1:12893473:AC:A | acceptor_gain | 0.9800 |
| 1:12893474:CC:C | acceptor_gain | 0.9800 |
| 1:12894584:A:AC | donor_gain | 0.9800 |
| 1:12894585:C:CC | donor_gain | 0.9800 |
| 1:12894982:T:A | donor_gain | 0.9800 |
| 1:12895869:AACT:A | acceptor_gain | 0.9800 |
| 1:12895066:ATGG:A | donor_gain | 0.9700 |
AlphaMissense
3121 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:12895673:A:G | W59R | 0.942 |
| 1:12895673:A:T | W59R | 0.942 |
| 1:12895665:G:C | F61L | 0.925 |
| 1:12895665:G:T | F61L | 0.925 |
| 1:12895667:A:G | F61L | 0.925 |
| 1:12895740:G:C | F36L | 0.912 |
| 1:12895740:G:T | F36L | 0.912 |
| 1:12895742:A:G | F36L | 0.912 |
| 1:12895116:G:C | F112L | 0.907 |
| 1:12895116:G:T | F112L | 0.907 |
| 1:12895118:A:G | F112L | 0.907 |
| 1:12895716:G:C | F44L | 0.903 |
| 1:12895716:G:T | F44L | 0.903 |
| 1:12895718:A:G | F44L | 0.903 |
| 1:12893274:A:G | L356S | 0.869 |
| 1:12893259:A:G | I361T | 0.864 |
| 1:12894944:A:G | W170R | 0.858 |
| 1:12894944:A:T | W170R | 0.858 |
| 1:12895671:C:A | W59C | 0.847 |
| 1:12895671:C:G | W59C | 0.847 |
| 1:12894780:A:C | F224L | 0.829 |
| 1:12894780:A:T | F224L | 0.829 |
| 1:12894782:A:G | F224L | 0.829 |
| 1:12895138:A:G | L105S | 0.823 |
| 1:12893087:A:C | S418R | 0.817 |
| 1:12893087:A:T | S418R | 0.817 |
| 1:12893089:T:G | S418R | 0.817 |
| 1:12895153:A:T | L100H | 0.817 |
| 1:12894729:G:C | F241L | 0.811 |
| 1:12894729:G:T | F241L | 0.811 |
dbSNP variants (sampled 300 via entrez): RS1001548482 (1:12892781 T>A,C), RS1002727101 (1:12898447 C>A,T), RS1003169509 (1:12898713 G>A), RS1005417122 (1:12892750 A>G), RS1006165307 (1:12898416 T>A), RS1006515123 (1:12898866 A>G,T), RS1006589873 (1:12899423 G>A), RS1008231294 (1:12897521 A>G), RS1008686864 (1:12896128 G>A,C), RS1008753162 (1:12897757 T>G), RS1009028193 (1:12895806 C>G,T), RS1009970500 (1:12898766 T>C), RS1010043823 (1:12899252 T>C), RS1011638862 (1:12897085 T>C), RS1011675026 (1:12893288 G>A,C)
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
7 total (human), top 7 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| perfluorooctanoic acid | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases 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.