PRAMEF8
gene geneOn this page
Summary
PRAMEF8 (PRAME family member 8, HGNC:24074) is a protein-coding gene on chromosome 1p36.21, encoding PRAME family member 8 (Q5VWM4).
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 391002 — RefSeq curated summary.
At a glance
- MANE Select transcript:
NM_001012276
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24074 |
| Approved symbol | PRAMEF8 |
| Name | PRAME family member 8 |
| Location | 1p36.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000182330 |
| Ensembl biotype | protein_coding |
| Entrez | 391002 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000357367, ENST00000621519
RefSeq mRNA: 1 — MANE Select: NM_001012276
NM_001012276
CCDS: CCDS72709
Canonical transcript exons
ENST00000357367 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001633251 | 13285097 | 13285137 |
| ENSE00001764121 | 13283805 | 13284116 |
| ENSE00001787203 | 13282847 | 13283422 |
| ENSE00003738605 | 13281304 | 13281932 |
Expression profiles
Bgee: expression breadth tissue_specific, 4 present calls, max score 37.20.
Top tissues by expression
116 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | 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 | 34.82 | gold quality |
| liver | UBERON:0002107 | 32.20 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| muscle tissue | UBERON:0002385 | 32.12 | gold quality |
| bone marrow | UBERON:0002371 | 31.74 | gold quality |
| sural nerve | UBERON:0015488 | 30.93 | gold quality |
| monocyte | CL:0000576 | 29.94 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.85 | gold quality |
| leukocyte | CL:0000738 | 29.73 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
| lymph node | UBERON:0000029 | 27.57 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 27.37 | gold quality |
| tonsil | UBERON:0002372 | 27.05 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 26.93 | gold quality |
| islet of Langerhans | UBERON:0000006 | 26.91 | gold quality |
| vermiform appendix | UBERON:0001154 | 26.42 | gold quality |
| gall bladder | UBERON:0002110 | 25.98 | gold quality |
| placenta | UBERON:0001987 | 25.81 | gold quality |
| primary visual cortex | UBERON:0002436 | 24.61 | gold quality |
| adrenal tissue | UBERON:0018303 | 23.99 | gold quality |
| myometrium | UBERON:0001296 | 23.97 | gold quality |
| ascending aorta | UBERON:0001496 | 23.39 | gold quality |
| thoracic aorta | UBERON:0001515 | 23.34 | gold quality |
| kidney | UBERON:0002113 | 23.19 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.17 |
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), 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), PRAMEF13 (ENSG00000279169), PRAMEF18 (ENSG00000279804), PRAMEF26 (ENSG00000280267)
Protein
Protein identifiers
PRAME family member 8 — Q5VWM4 (reviewed: Q5VWM4)
All UniProt accessions (1): Q5VWM4
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the PRAME family.
RefSeq proteins (1): NP_001012276* (*=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-Q5VWM4-F1 | 86.98 | 0.65 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 46 (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, GSE13493_DP_VS_CD4INTCD8POS_THYMOCYTE_UP, GSE13493_DP_VS_CD8POS_THYMOCYTE_UP, GOMF_MOLECULAR_ADAPTOR_ACTIVITY
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
2173 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRAMEF8 | LRRC38 | Q5VT99 | 447 |
| PRAMEF8 | ZNF155 | Q12901 | 350 |
| PRAMEF8 | ZBTB18 | Q99592 | 300 |
| PRAMEF8 | SDCCAG8 | Q86SQ7 | 298 |
| PRAMEF8 | FIGLA | Q6QHK4 | 278 |
| PRAMEF8 | BTBD18 | B2RXH4 | 270 |
| PRAMEF8 | PRDM2 | Q13029 | 212 |
| PRAMEF8 | SLC45A1 | Q9Y2W3 | 199 |
| PRAMEF8 | DMRTB1 | Q96MA1 | 195 |
| PRAMEF8 | EEF1G | P26641 | 188 |
| PRAMEF8 | SYCE3 | A1L190 | 184 |
| PRAMEF8 | SLC2A7 | Q6PXP3 | 184 |
| PRAMEF8 | RNF17 | Q9BXT8 | 183 |
| PRAMEF8 | SYCE2 | Q6PIF2 | 181 |
| PRAMEF8 | FAU | P35544 | 180 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRAMEF12 | HSPA8 | 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
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
399 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:13281928:GACAC:G | acceptor_gain | 1.0000 |
| 1:13281929:ACAC:A | acceptor_gain | 1.0000 |
| 1:13281930:CAC:C | acceptor_gain | 1.0000 |
| 1:13281930:CACC:C | acceptor_gain | 1.0000 |
| 1:13281931:AC:A | acceptor_gain | 1.0000 |
| 1:13281932:CC:C | acceptor_gain | 1.0000 |
| 1:13281933:C:CC | acceptor_gain | 1.0000 |
| 1:13282846:C:CT | donor_loss | 1.0000 |
| 1:13284112:AAACT:A | acceptor_gain | 1.0000 |
| 1:13284115:CT:C | acceptor_gain | 1.0000 |
| 1:13281933:C:T | acceptor_gain | 0.9900 |
| 1:13282840:T:TA | donor_gain | 0.9900 |
| 1:13283330:AGAG:A | donor_gain | 0.9900 |
| 1:13283419:CTGC:C | acceptor_gain | 0.9900 |
| 1:13283800:CTCA:C | donor_loss | 0.9900 |
| 1:13283801:TCACC:T | donor_loss | 0.9900 |
| 1:13283802:CACC:C | donor_loss | 0.9900 |
| 1:13283804:C:G | donor_loss | 0.9900 |
| 1:13283992:C:CA | donor_gain | 0.9900 |
| 1:13284113:AACT:A | acceptor_gain | 0.9900 |
| 1:13284117:C:CC | acceptor_gain | 0.9900 |
| 1:13282832:ACCAT:A | donor_gain | 0.9800 |
| 1:13282833:CCATC:C | donor_gain | 0.9800 |
| 1:13284116:TC:T | acceptor_loss | 0.9800 |
| 1:13284117:C:CG | acceptor_loss | 0.9800 |
| 1:13284118:T:G | acceptor_loss | 0.9800 |
| 1:13285095:A:AC | donor_gain | 0.9800 |
| 1:13285096:C:CC | donor_gain | 0.9800 |
| 1:13282836:T:TA | donor_gain | 0.9700 |
| 1:13283309:T:C | donor_gain | 0.9700 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS112978669 (1:13286232 A>C), RS1156303488 (1:13283866 C>T), RS1156351210 (1:13286092 G>A), RS1156559394 (1:13286395 C>G,T), RS1156589005 (1:13281749 G>T), RS1156698589 (1:13282514 TC>T), RS1157793266 (1:13286760 C>A), RS1158057236 (1:13282898 A>G), RS1158386156 (1:13281382 A>C), RS1158558857 (1:13284452 C>T), RS1158768988 (1:13286234 A>AAG,AT), RS1158959486 (1:13282069 T>C), RS1160179969 (1:13281808 T>G), RS1160229409 (1:13282587 G>A), RS1160635153 (1:13282525 T>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
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| fipronil | affects cotreatment, increases expression | 1 |
| tebuconazole | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| DEET | affects cotreatment, increases expression | 1 |
| Aflatoxin B1 | increases methylation | 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.