Gene Gene information from NCBI Gene database.
Entrez ID 133746
Gene name Junction mediating and regulatory protein, p53 cofactor
Gene symbol JMY
Synonyms (NCBI Gene)
WHAMM2WHDC1L3
Chromosome 5
Chromosome location 5q14.1
miRNA miRNA information provided by mirtarbase database.
601
miRTarBase ID miRNA Experiments Reference
MIRT005323 hsa-miR-21-5p Luciferase reporter assayqRT-PCR 18829576
MIRT016890 hsa-miR-335-5p Microarray 18185580
MIRT038309 hsa-miR-130b-5p CLASH 23622248
MIRT053442 hsa-miR-203a-3p Microarray 23807165
MIRT657094 hsa-miR-18a-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000421 Component Autophagosome membrane IDA 30420355
GO:0000421 Component Autophagosome membrane IEA
GO:0003713 Function Transcription coactivator activity IBA
GO:0003713 Function Transcription coactivator activity ISS
GO:0003779 Function Actin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604279 28916 ENSG00000152409
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N9B5
Protein name Junction-mediating and -regulatory protein
Protein function Acts both as a nuclear p53/TP53-cofactor and a cytoplasmic regulator of actin dynamics depending on conditions (PubMed:30420355). In nucleus, acts as a cofactor that increases p53/TP53 response via its interaction with p300/EP300. Increases p53/
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15920 WHAMM-JMY_N 5 55 N-terminal of Junction-mediating and WASP homolog-associated Family
PF15871 JMY 229 583 Junction-mediating and -regulatory protein Family
Sequence
MSFALEETLESDWVAVRPHVFDEREKHKFVFIVAWNEIEGKFAITCHNRTAQRQRSGSRE
QAGARGGAEAGGAASDGSRGPGSPAGRGRPEATASATLVRSPGPRRSSAWAEGGSPRSTR
SLLGDPRLRSPGSKGAESRLRSPVRAKPIPGQKTSEADDAAGAAAAAARPAPREAQVSSV
RIVSASGTVSEEIEVLEMVKEDEAPLALSDAEQPPPATELESPAEECSWAGLFSFQDLRA
VHQQLCSVNSQLEPCLPVFPEEPSGMWTVLFGGAPEMTEQEIDTLCYQLQVYLGHGLDTC
GWKILSQVLFTETDDPEEYYESLSELRQKGYEEVLQRARKRIQELLDKHKNTESMVELLD
LYQMEDEAYSSLAEATTELYQYLLQPFRDMRELAMLRRQQIKISMENDYLGPRRIESLQK
EDADWQRKAHMAVLSIQDLTVKYFEITAKAQKAVYDRMRADQKKFGKASWAAAAERMEKL
QYAVSKETLQMMRAKEICLEQRKHALKEEMQSLRGGTEAIARLDQLEADYYDLQLQLYEV
QFEILKCEELLLTAQLESIKRLISEKRDEVVYYDTYESMEAML
EKEEMAASAYLQREELQ
KLQQKARQLEARRGRVSAKKSYLRNKKEICIAKHNEKIQQRTRIEDEYRTHHTVQLKREK
LHDEEERKSAWVSQERQRTLDRLRTFKQRYPGQVILKSTRLRLAHARRKGAASPVLQEDH
CDSLPSVLQVEEKTEEVGEGRVKRGPSQTTEPQSLVQLEDTSLTQLEATSLPLSGVTSEL
PPTISLPLLNNNLEPCSVTINPLPSPLPPTPPPPPPPPPPPPPPPLPVAKDSGPETLEKD
LPRKEGNEKRIPKSASAPSAHLFDSSQLVSARKKLRKTAEGLQRRRVSSPMDEVLASLKR
GSFHLKKVEQRTLPPFPDEDDSNNILAQIRKGVKLKKVQKDVLRESFTLLPDTDPLTRSI
HEALRRIKEASPESEDEEEALPCTDWEN
Sequence length 988
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of TP53 Activity through Methylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
HEARING LOSS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 23758122, 24069348
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30833811
★☆☆☆☆
Found in Text Mining only
Lymphoma Lymphoma Pubtator 31776129 Associate
★☆☆☆☆
Found in Text Mining only
Mucolipidoses Mucolipidosis Pubtator 32363797 Associate
★☆☆☆☆
Found in Text Mining only
Spondylitis Ankylosing Ankylosing spondylitis Pubtator 23758122, 24069348 Associate
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Triple Negative Breast Neoplasms BEFREE 30833811
★☆☆☆☆
Found in Text Mining only