Gene Gene information from NCBI Gene database.
Entrez ID 23532
Gene name PRAME nuclear receptor transcriptional regulator
Gene symbol PRAME
Synonyms (NCBI Gene)
CT130MAPEOIP-4OIP4
Chromosome 22
Chromosome location 22q11.22
Summary This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, an
miRNA miRNA information provided by mirtarbase database.
7
miRTarBase ID miRNA Experiments Reference
MIRT1259555 hsa-miR-298 CLIP-seq
MIRT1259556 hsa-miR-3942-3p CLIP-seq
MIRT1259557 hsa-miR-4263 CLIP-seq
MIRT1259558 hsa-miR-505 CLIP-seq
MIRT1259559 hsa-miR-576-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SOX9 Repression 19273910
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 21822215
GO:0000785 Component Chromatin IDA 21822215
GO:0005515 Function Protein binding IPI 16179254, 21822215, 23460923
GO:0005634 Component Nucleus IDA 21822215
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606021 9336 ENSG00000185686
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P78395
Protein name Melanoma antigen preferentially expressed in tumors (Opa-interacting protein 4) (OIP-4) (Preferentially expressed antigen of melanoma)
Protein function Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex, which mediates ubiquitination of target proteins, leading to their degradation (PubMed:21822215, PubMed:26138980). The CRL2(PRAME) complex mediates ubiqui
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in testis. Detected in samples of kidney, brain and skin. {ECO:0000269|PubMed:9047241}.
Sequence
MERRRLWGSIQSRYISMSVWTSPRRLVELAGQSLLKDEALAIAALELLPRELFPPLFMAA
FDGRHSQTLKAMVQAWPFTCLPLGVLMKGQHLHLETFKAVLDGLDVLLAQEVRPRRWKLQ
VLDLRKNSHQDFWTVWSGNRASLYSFPEPEAAQPMTKKRKVDGLSTEAEQPFIPVEVLVD
LFLKEGACDELFSYLIEKVKRKKNVLRLCCKKLKIFAMPMQDIKMILKMVQLDSIEDLEV
TCTWKLPTLAKFSPYLGQMINLRRLLLSHIHASSYISPEKEEQYIAQFTSQFLSLQCLQA
LYVDSLFFLRGRLDQLLRHVMNPLETLSITNCRLSEGDVMHLSQSPSVSQLSVLSLSGVM
LTDVSPEPLQALLERASATLQDLVFDECGITDDQLLALLPSLSHCSQLTTLSFYGNSISI
SALQSLLQHLIGLSNLTHVLYPVPLESYEDIHGTLHLERLAYLHARLRELLCELGRPSMV
WLSANPCPHCGDRTFYDPEPILCPCFMPN
Sequence length 509
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, NON-SMALL-CELL LUNG CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEAD AND NECK NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 16860864, 21550659, 24008770, 26823776
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12419593, 16681423
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 15180862
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 23444226
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 18815192
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia LHGDN 18815192
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 18709641, 19775429, 27519286
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 18709641
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24764584, 27241212
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 12419593
★☆☆☆☆
Found in Text Mining only