JMJD7 jumonji domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: JMJD7provided by HGNC
Official Full Name: jumonji domain containing 7provided by HGNC
Primary source: HGNC:HGNC:34397
See related: Ensembl:ENSG00000243789 AllianceGenome:HGNC:34397
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in skin (RPKM 20.1), esophagus (RPKM 12.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (41828092..41837581)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (39634005..39643531)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (42120290..42129779)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Substrate selectivity and inhibition of the human lysyl hydroxylase JMJD7.
Title: Substrate selectivity and inhibition of the human lysyl hydroxylase JMJD7.
The protease activities of JMJD5 and JMJD7 represent a mechanism for removal of histone tails bearing methylated arginine residues and define a potential mechanism of transcription regulation.
Title: Clipping of arginine-methylated histone tails by JMJD5 and JMJD7.
JMJD7-PLA2G4B may serve as an important therapeutic target and prognostic marker for head and neck squamous cell carcinoma development and progression.
Title: A novel read-through transcript JMJD7-PLA2G4B regulates head and neck squamous cell carcinoma cell proliferation and survival.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NIB1403 (e-PCR)
- UniSTS:17438

A004M13 (e-PCR)
- UniSTS:23345

RH102897 (e-PCR)
- UniSTS:97231

Readthrough JMJD7-PLA2G4B

Readthrough gene: JMJD7-PLA2G4B, Included gene: PLA2G4B

Clone Names

FLJ20543, FLJ20656, FLJ20807, FLJ77014, FLJ78330

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aminopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidyl-lysine 3-dioxygenase activity	EXP Inferred from Experiment more info	PubMed
enables peptidyl-lysine 3-dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein hydroxylation	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7

Names: L-lysine (3S)-hydroxylase JMJD7; jmjC domain-containing protein 7; jumonji domain-containing protein 7

NP_001108104.1

EC 1.14.11.63

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.