KDM8 (lysine demethylase 8)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 79831
Gene name Lysine demethylase 8
Gene symbol KDM8
Synonyms (NCBI Gene)
JMJD5
Chromosome 16
Chromosome location 16p12.1
Summary This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT045429 hsa-miR-149-5p CLASH 23622248
MIRT052832 hsa-miR-378c CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (42)
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IMP 20457893
GO:0001701 Process In utero embryonic development IEA
GO:0002039 Function P53 binding IEA
GO:0003682 Function Chromatin binding IBA
GO:0003682 Function Chromatin binding IDA 20457893
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611917 25840 ENSG00000155666
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N371
Protein name Bifunctional peptidase and arginyl-hydroxylase JMJD5 (EC 1.14.11.73) (EC 3.4.-.-) (JmjC domain-containing protein 5) (Jumonji C domain-containing protein 5) (L-arginine (3R)-hydroxylase KDM8)
Protein function Bifunctional enzyme that acts both as an endopeptidase and 2-oxoglutarate-dependent monooxygenase (PubMed:28847961, PubMed:28982940, PubMed:29459673, PubMed:29563586). Endopeptidase that cleaves histones N-terminal tails at the carboxyl side of
PDB 3UYJ , 4AAP , 4GAZ , 4GJY , 4GJZ , 4QU1 , 5FBJ , 6AVS , 6AX3 , 6F4M , 6F4N , 6F4O , 6F4P , 6F4Q , 6F4R , 6F4S , 6F4T , 6I9L , 6I9M , 6I9N , 7DYT , 7DYU , 7DYV , 7DYW , 7DYX , 7UQ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13621 Cupin_8 192 → 416 Cupin-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Weakly expressed in most cells. Highly expressed in breast cancer cells (PubMed:20457893). Expressed in embryonic stem cells (PubMed:24740926). {ECO:0000269|PubMed:20457893, ECO:0000269|PubMed:24740926}.
Sequence 
MAGDTHCPAEPLAREGTLWEALRALLPHSKEDLKLDLGEKVERSVVTLLQRATELFYEGR
RDECLQSSEVILDYSWEKLNTGTWQDVDKDWRRVYAIGCLLKALCLCQAPEDANTVAAAL
RVCDMGLLMGAAILGDILLKVAAILQTHLPGKRPARGSLPEQPCTKKARADHGLIPDVKL
EKTVPRLHRPSLQHFREQFLVPGRPVILKGVADHWPCMQKWSLEYIQEIAGCRTVPVEVG
SRYTDEEWSQTLMTVNEFISKYIVNEPRDVGYLAQHQLFDQIPELKQDISIPDYCSLGDG
EEEEITINAWFGPQGTISPLHQDPQQNFLVQVMGRKYIRLYSPQESGALYPHDTHLLHNT
SQVDVENPDLEKFPKFAKAPFLSCILSPGEILFIPVKYWHYVRALDLSFSVSFWWS
Sequence length 416
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Coffin-Siris syndrome Uncertain significance rs201012033, rs773887912 RCV001267725
RCV001267726
Show/Hide Text Mining Associations (21)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 22851697, 26617740, 30911680
Breast Neoplasms Stimulate 30249876
Breast Neoplasms Inhibit 34719199
Carcinogenesis Associate 26261525
Carcinoma Hepatocellular Inhibit 34719199
Carcinoma Hepatocellular Associate 35254477
Carcinoma Non Small Cell Lung Inhibit 37813845
Colorectal Neoplasms Associate 26261525, 27980103
Hepatitis B Associate 26792738
Hypoxia Stimulate 24344305