PRAME (PRAME nuclear receptor transcriptional regulator)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23532
Gene name Gene Name - the full gene name approved by the HGNC.
PRAME nuclear receptor transcriptional regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRAME
Synonyms (NCBI Gene) Gene synonyms aliases
CT130, MAPE, OIP-4, OIP4
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
SOX9 Repression 19273910
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606021 9336 ENSG00000185686
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Heart Failure Heart failure N/A N/A GWAS
Show/Hide Text Mining Associations (100)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 27241212
Brain Neoplasms Associate 32317605
Breast Neoplasms Associate 11136822, 18648365, 19291396, 24764584, 34612587, 37610673, 38022619, 40076569
Breast Neoplasms Stimulate 33487792
Calcinosis Cutis Stimulate 35503885
Carcinoma Adenoid Cystic Stimulate 35973038
Carcinoma Basal Cell Associate 35973038
Carcinoma Embryonal Associate 17993720
Carcinoma Merkel Cell Associate 40001006
Carcinoma Non Small Cell Lung Associate 27794402, 37341056