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Gene Gene information from NCBI Gene database.
Entrez ID 100137047
Gene name Jumonji domain containing 7
Gene symbol JMJD7
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q15.1
Summary This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from thi
miRNA miRNA information provided by mirtarbase database.
32 Show/Hide all (32)
miRTarBase ID miRNA Experiments Reference
MIRT1077081 hsa-miR-1197 CLIP-seq
MIRT1077082 hsa-miR-139-3p CLIP-seq
MIRT1077083 hsa-miR-365 CLIP-seq
MIRT1077084 hsa-miR-3660 CLIP-seq
MIRT1077085 hsa-miR-3675-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23 Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IBA
GO:0004175 Function Endopeptidase activity IDA 28847961
GO:0004177 Function Aminopeptidase activity IDA 28847961
GO:0004177 Function Aminopeptidase activity IEA
GO:0004497 Function Monooxygenase activity IDA 29915238
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
621306 34397 ENSG00000243789
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0C870
Protein name Bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7 (EC 1.14.11.63) (EC 3.4.-.-) (JmjC domain-containing protein 7) (Jumonji domain-containing protein 7) (L-lysine (3S)-hydroxylase JMJD7)
Protein function Bifunctional enzyme that acts both as an endopeptidase and 2-oxoglutarate-dependent monooxygenase (PubMed:28847961, PubMed:29915238). Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of methylated arginine or lysine resi
PDB 5NFN , 5NFO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13621 Cupin_8 38 → 298 Cupin-like domain Domain
Sequence
Sequence length 316
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
JMJD7-related disorder Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
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
Breast Carcinoma Breast Carcinoma BEFREE 28847961
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 28847961
★★★★★
★☆☆☆☆
Found in Text Mining only
Metabolic Syndrome Metabolic syndrome Pubtator 36518097 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Squamous cell carcinoma Pubtator 28030848 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only