Gene Gene information from NCBI Gene database.
Entrez ID 23210
Gene name Jumonji domain containing 6, arginine demethylase and lysine hydroxylase
Gene symbol JMJD6
Synonyms (NCBI Gene)
PSRPTDSRPTDSR1
Chromosome 17
Chromosome location 17q25.1
Summary This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phag
miRNA miRNA information provided by mirtarbase database.
349
miRTarBase ID miRNA Experiments Reference
MIRT049750 hsa-miR-92a-3p CLASH 23622248
MIRT041794 hsa-miR-484 CLASH 23622248
MIRT052729 hsa-miR-1260b CLASH 23622248
MIRT1076993 hsa-let-7a CLIP-seq
MIRT1076994 hsa-let-7b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
GO ID Ontology Definition Evidence Reference
GO:0001568 Process Blood vessel development IEA
GO:0001822 Process Kidney development IEA
GO:0002040 Process Sprouting angiogenesis IEA
GO:0002040 Process Sprouting angiogenesis ISS
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604914 19355 ENSG00000070495
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6NYC1
Protein name Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 (EC 1.14.11.-) (Histone arginine demethylase JMJD6) (JmjC domain-containing protein 6) (Jumonji domain-containing protein 6) (Lysyl-hydroxylase JMJD6) (Peptide-lysine 5-dioxygenase JMJD6) (Phos
Protein function Dioxygenase that can both act as a arginine demethylase and a lysyl-hydroxylase (PubMed:17947579, PubMed:20684070, PubMed:21060799, PubMed:22189873, PubMed:24498420). Acts as a lysyl-hydroxylase that catalyzes 5-hydroxylation on specific lysine
PDB 3K2O , 3LD8 , 3LDB , 6BNH , 6GDY , 6MEV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02373 JmjC 174 288 JmjC domain, hydroxylase Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the heart, skeletal muscle and kidney. Expressed at moderate or low level in brain, placenta, lung, liver, pancreas, spleen, thymus, prostate, testis and ovary. Up-regulated in many patients with chronic pancreatiti
Sequence
MNHKSKKRIREAKRSARPELKDSLDWTRHNYYESFSLSPAAVADNVERADALQLSVEEFV
ERYERPYKPVVLLNAQEGWSAQEKWTLERLKRKYRNQKFKCGEDNDGYSVKMKMKYYIEY
MESTRDDSPLYIFDSSYGEHPKRRKLLEDYKVPKFFTDDLFQYAGEKRRPPYRWFVMGPP
RSGTGIHIDPLGTSAWNALVQGHKRWCLFPTSTPRELIKVTRDEGGNQQDEAITWFNVIY
PRTQLPTWPPEFKPLEILQKPGETVFVPGGWWHVVLNLDTTIAITQNF
ASSTNFPVVWHK
TVRGRPKLSRKWYRILKQEHPELAVLADSVDLQESTGIASDSSSDSSSSSSSSSSDSDSE
CESGSEGDGTVHRRKKRRTCSMVGNGDTTSQDDCVSKERSSSR
Sequence length 403
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HDMs demethylate histones
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA, CUTANEOUS MALIGNANT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA CTD
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma BEFREE 24667498
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23595221, 27613418
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37188718 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 40239861 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 18378158 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 28546003
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 18378158 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22621393, 25951181, 29229759, 29628309, 30185813
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 30619488
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22621393, 33215431, 33246425, 36419768, 36867680 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations