JMJD8 (jumonji domain containing 8)

Gene

• Entrez ID: 339123
• Gene name: Jumonji domain containing 8
• Gene symbol: JMJD8
• Synonyms (NCBI Gene): C16orf20, PP14397
• Chromosome: 16
• Chromosome location: 16p13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038844	hsa-miR-93-3p	CLASH	23622248
MIRT1077095	hsa-miR-361-3p	CLIP-seq
MIRT1077095	hsa-miR-361-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IBA
GO:0005515	Function	Protein binding	IPI	27199445
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	29133832
GO:0005737	Component	Cytoplasm	IDA	27199445
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	29133832
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	29133832
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0006110	Process	Regulation of glycolytic process	IMP	27199445
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	27671354
GO:1903302	Process	Regulation of pyruvate kinase activity	IMP	27199445
GO:1903672	Process	Positive regulation of sprouting angiogenesis	IMP	27199445

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q96S16
• Protein name: JmjC domain-containing protein 8 (Jumonji domain-containing protein 8)
• Protein function: Functions as a positive regulator of TNF-induced NF-kappa-B signaling (PubMed:27671354). Regulates angiogenesis and cellular metabolism through interaction with PKM (PubMed:27199445).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13621	Cupin_8	52 → 261	Cupin-like domain	Domain

• Sequence:

  MAPASRLLALWALAAVALPGSGAEGDGGWRPGGPGAVAEEERCTVERRADLTYAEFVQQY
  AFVRPVILQGLTDNSRFRALCSRDRLLASFGDRVVRLSTANTYSYHKVDLPFQEYVEQLL
  HPQDPTSLGNDTLYFFGDNNFTEWASLFRHYSPPPFGLLGTAPAYSFGIAGAGSGVPFHW
  HGPGYSEVIYGRKRWFLYPPEKTPEFHPNKTTLAWLRDTYPALPPSARPLECTIRAGEVL
  YFPDRWWHATLNLDTSVFISTFLG

• Sequence length: 264

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STIP1 HOMOLOGY AND U-BOX CONTAINING PROTEIN 1 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 48	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31152315		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	35898493	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31473257		★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	Spinocerebellar Ataxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	38184692	Associate	★☆☆☆☆ Found in Text Mining only