Gene Gene information from NCBI Gene database.
Entrez ID 55818
Gene name Lysine demethylase 3A
Gene symbol KDM3A
Synonyms (NCBI Gene)
JHDM2AJHMD2AJMJD1JMJD1ATSGA
Chromosome 2
Chromosome location 2p11.2
Summary This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
miRNA miRNA information provided by mirtarbase database.
200
miRTarBase ID miRNA Experiments Reference
MIRT006439 hsa-miR-155-5p In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 21541331
MIRT006439 hsa-miR-155-5p In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 21541331
MIRT006439 hsa-miR-155-5p In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 21541331
MIRT006439 hsa-miR-155-5p In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 21541331
MIRT006439 hsa-miR-155-5p In situ hybridizationLuciferase reporter assayqRT-PCRWestern blot 21541331
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA
GO:0000785 Component Chromatin IBA
GO:0001673 Component Male germ cell nucleus IEA
GO:0003682 Function Chromatin binding IEA
GO:0003712 Function Transcription coregulator activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611512 20815 ENSG00000115548
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4C1
Protein name Lysine-specific demethylase 3A (EC 1.14.11.65) (JmjC domain-containing histone demethylation protein 2A) (Jumonji domain-containing protein 1A) ([histone H3]-dimethyl-L-lysine(9) demethylase 3A)
Protein function Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Preferentially demethylates mono- and dimethylated H3 'Lys-9' residue, with a preference for dimethylated residue, while it
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02373 JmjC 1151 1264 JmjC domain, hydroxylase Domain
Sequence
MVLTLGESWPVLVGRRFLSLSAADGSDGSHDSWDVERVAEWPWLSGTIRAVSHTDVTKKD
LKVCVEFDGESWRKRRWIEVYSLLRRAFLVEHNLVLAERKSPEISERIVQWPAITYKPLL
DKAGLGSITSVRFLGDQQRVFLSKDLLKPIQDVNSLRLSLTDNQIVSKEFQALIVKHLDE
SHLLKGDKNLVGSEVKIYSLDPSTQWFSATVINGNPASKTLQVNCEEIPALKIVDPSLIH
VEVVHDNLVTCGNSARIGAVKRKSSENNGTLVSKQAKSCSEASPSMCPVQSVPTTVFKEI
LLGCTAATPPSKDPRQQSTPQAANSPPNLGAKIPQGCHKQSLPEEISSCLNTKSEALRTK
PDVCKAGLLSKSSQIGTGDLKILTEPKGSCTQPKTNTDQENRLESVPQALTGLPKECLPT
KASSKAELEIANPPELQKHLEHAPSPSDVSNAPEVKAGVNSDSPNNCSGKKVEPSALACR
SQNLKESSVKVDNESCCSRSNNKIQNAPSRKSVLTDPAKLKKLQQSGEAFVQDDSCVNIV
AQLPKCRECRLDSLRKDKEQQKDSPVFCRFFHFRRLQFNKHGVLRVEGFLTPNKYDNEAI
GLWLPLTKNVVGIDLDTAKYILANIGDHFCQMVISEKEAMSTIEPHRQVAWKRAVKGVRE
MCDVCDTTIFNLHWVCPRCGFGVCVDCYRMKRKNCQQGAAYKTFSWLKCVKSQIHEPENL
MPTQIIPGKALYDVGDIVHSVRAKWGIKANCPCSNRQFKLFSKPASKEDLKQTSLAGEKP
TLGAVLQQNPSVLEPAAVGGEAASKPAGSMKPACPASTSPLNWLADLTSGNVNKENKEKQ
PTMPILKNEIKCLPPLPPLSKSSTVLHTFNSTILTPVSNNNSGFLRNLLNSSTGKTENGL
KNTPKILDDIFASLVQNKTTSDLSKRPQGLTIKPSILGFDTPHYWLCDNRLLCLQDPNNK
SNWNVFRECWKQGQPVMVSGVHHKLNSELWKPESFRKEFGEQEVDLVNCRTNEIITGATV
GDFWDGFEDVPNRLKNEKEPMVLKLKDWPPGEDFRDMMPSRFDDLMANIPLPEYTRRDGK
LNLASRLPNYFVRPDLGPKMYNAYGLITPEDRKYGTTNLHLDVSDAANVMVYVGIPKGQC
EQEEEVLKTIQDGDSDELTIKRFIEGKEKPGALWHIYAAKDTEKIREFLKKVSEEQGQEN
PADHDPIHDQSWYLDRSLRKRLHQEYGVQGWAIVQFLGDVVFIPAGAPHQVHNLYSCIKV
AEDF
VSPEHVKHCFWLTQEFRYLSQTHTNHEDKLQVKNVIYHAVKDAVAMLKASESSFGK
P
Sequence length 1321
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thermogenesis   HDMs demethylate histones
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
KDM3A-related disorder Benign; Likely benign; Uncertain significance rs35269985, rs143719053, rs200901071, rs34605051, rs112037053, rs201066011, rs148246875, rs34633400, rs189936092, rs186664065, rs556530310, rs2469488904, rs113985244, rs76610646, rs11431031
View all (8 more)
RCV003974407
RCV003904147
RCV003981372
RCV003979858
RCV003973904
RCV003977195
RCV003934068
RCV003917119
RCV003914783
RCV003929403
RCV003951681
RCV003924461
RCV003939399
RCV003949321
RCV003959064
RCV003959182
RCV003921956
RCV003922182
RCV003942300
RCV003981994
RCV003971823
RCV003915891
RCV003940567
RCV003950445
Melanoma Uncertain significance rs147819585 RCV005928859
Prostate cancer Uncertain significance rs193921056 RCV000149073
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 25488809, 38165573
Carcinogenesis Associate 26617828, 26728187, 33174020
Carcinogenesis Stimulate 33888871
Carcinoma Hepatocellular Associate 36008383
Carcinoma Renal Cell Stimulate 33888871
Colonic Neoplasms Associate 37650153
Colorectal Neoplasms Associate 30649550, 32457453, 33174020
Esophageal Squamous Cell Carcinoma Associate 33318475
Hyperglycemia Associate 34479471
Hypoxia Associate 18984585, 24002598, 28416760, 34479471, 37650153