1. Gene
  2. JMJD8 - jumonji domain containing 8 Gene

JMJD8 - jumonji domain containing 8 Gene

Homo sapiens

Also known as PP14397; C16orf20

Gene ID: 339123 | Gene type: protein coding

About JMJD8

This gene has 15 transcripts (splice variants), 190 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 36.7), kidney (RPKM 34.2) and 25 other tissues.

Summary

Involved in several processes, including positive regulation of I-kappaB kinase/NF-kappaB signaling; positive regulation of sprouting angiogenesis; and regulation of glycolytic process. Located in endoplasmic reticulum lumen and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

JMJD8 Products(5)

mRNA Protein Name
NM_001005920.4 NP_001005920.3 jmjC domain-containing protein 8 isoform 1 precursor
NM_001323918.3 NP_001310847.2 jmjC domain-containing protein 8 isoform 2 precursor
NM_001323919.3 NP_001310848.2 jmjC domain-containing protein 8 isoform 3 precursor
NM_001323920.3 NP_001310849.2 jmjC domain-containing protein 8 isoform 4 precursor
NM_001323922.3 NP_001310851.2 jmjC domain-containing protein 8 isoform 5 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
27199445 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of canonical NF-kappaB signal transduction IMP
IMP: Inferred from mutant phenotype
27671354 GOA
involved in positive regulation of sprouting angiogenesis IMP
IMP: Inferred from mutant phenotype
27199445 GOA
involved in regulation of glycolytic process IMP
IMP: Inferred from mutant phenotype
27199445 GOA
involved in regulation of pyruvate kinase activity IMP
IMP: Inferred from mutant phenotype
27199445 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
27199445 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
29133832 GOA
located in endoplasmic reticulum lumen IDA
IDA: Inferred from direct assay
29133832 GOA
located in nucleus IDA
IDA: Inferred from direct assay
29133832 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

JMJD8 Protein Structure

Cupin_8

Cupin_8: Cupin-like domain (81 - 270)

  • 0
  • 100
  • 200
  • 285 a.a.
Protein Preferred Names Protein Names

jmjC domain-containing protein 8

jumonji domain-containing protein 8

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 48

SCA48

Spinocerebellar Ataxia, Autosomal Recessive 16

Autosomal Recessive Spinocerebellar Ataxia 16

SCAR16

Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 16

Spinocerebellar Ataxia, Autosomal Recessive, 16

Ataxia, Spinocerebellar, Autosomal Recessive, Type 16

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus JMJD8 VGNC VGNC:63008
Bos taurus JMJD8 VGNC VGNC:58602
Macaca mulatta JMJD8 VGNC VGNC:73826
Rattus norvegicus JMJD8 RGD RGD:1307381
Mus musculus JMJD8 MGD MGI:1919356
Canis familiaris JMJD8 VGNC VGNC:42190