Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23210
Gene name Gene Name - the full gene name approved by the HGNC.
Jumonji domain containing 6, arginine demethylase and lysine hydroxylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
JMJD6
Synonyms (NCBI Gene) Gene synonyms aliases
PSR, PTDSR, PTDSR1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0002040 Process Sprouting angiogenesis ISS
GO:0003723 Function RNA binding TAS 21060799
GO:0003727 Function Single-stranded RNA binding IDA 20679243, 29176719
GO:0005506 Function Iron ion binding IDA 20679243
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604914 19355 ENSG00000070495
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
30619488
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
30619488
Marfan syndrome Mammary Carcinoma, Human rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465
View all (942 more)
30619488
Melanoma melanoma, Cutaneous Melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)
30619488
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 23595221
Alzheimer Disease Associate 37188718
Aortic Dissection Associate 40239861
Autistic Disorder Associate 18378158
Brain Diseases Associate 18378158
Breast Neoplasms Associate 22621393, 33215431, 33246425, 36419768, 36867680
Carcinogenesis Associate 26645717, 35764091, 35969736
Carcinoma Hepatocellular Associate 37880710
Carcinoma Renal Cell Associate 35764091
Cell Transformation Neoplastic Stimulate 38166895