Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5927
Gene name Gene Name - the full gene name approved by the HGNC.
Lysine demethylase 5A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KDM5A
Synonyms (NCBI Gene) Gene synonyms aliases
NEDEHC, RBBP-2, RBBP2, RBP2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NEDEHC
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The enc
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017637 hsa-miR-335-5p Microarray 18185580
MIRT623483 hsa-miR-548ae-3p HITS-CLIP 23824327
MIRT623482 hsa-miR-548ah-3p HITS-CLIP 23824327
MIRT623481 hsa-miR-548aj-3p HITS-CLIP 23824327
MIRT623480 hsa-miR-548am-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IMP 18270511
GO:0003677 Function DNA binding IDA 15640446
GO:0003713 Function Transcription coactivator activity ISS
GO:0005515 Function Protein binding IPI 21960634, 22615382
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
180202 9886 ENSG00000073614
Protein
UniProt ID P29375
Protein name Lysine-specific demethylase 5A (EC 1.14.11.67) (Histone demethylase JARID1A) (Jumonji/ARID domain-containing protein 1A) (Retinoblastoma-binding protein 2) (RBBP-2) ([histone H3]-trimethyl-L-lysine(4) demethylase 5A)
Protein function Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated a
PDB 2JXJ , 2KGG , 2KGI , 3GL6 , 5C11 , 5CEH , 5E6H , 5ISL , 5IVB , 5IVC , 5IVE , 5IVF , 5IVJ , 5IVV , 5IVY , 5IW0 , 5IWF , 5K4L , 5V9P , 5V9T , 6BGU , 6BGV , 6BGW , 6BGX , 6BGY , 6BGZ , 6BH0 , 6BH1 , 6BH2 , 6BH3 , 6BH4 , 6BH5 , 6DQ4 , 6DQ5 , 6DQ6 , 6DQ7 , 6DQ8 , 6DQ9 , 6DQA , 6DQB , 6DQC , 6DQD , 6DQE , 6DQF , 7KLO , 7KLR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02375 JmjN 20 53 jmjN domain Family
PF01388 ARID 86 170 ARID/BRIGHT DNA binding domain Domain
PF00628 PHD 295 343 PHD-finger Domain
PF02373 JmjC 470 586 JmjC domain, hydroxylase Domain
PF02928 zf-C5HC2 676 728 C5HC2 zinc finger Domain
PF08429 PLU-1 741 1072 PLU-1-like protein Family
PF00628 PHD 1163 1218 PHD-finger Domain
Sequence
MAGVGPGGYAAEFVPPPECPVFEPSWEEFTDPLSFIGRIRPLAEKTGICKIRPPKDWQPP
FACEVKSFRFTPRVQRLNELEAMTRVRLDFLDQLAKFWELQGSTLKIPVVERKILDLYAL
SKIVASKGGFEMVTKEKKWSKVGSRLGYLPGKGTGSLLKSHYERILYPYE
LFQSGVSLMG
VQMPNLDLKEKVEPEVLSTDTQTSPEPGTRMNILPKRTRRVKTQSESGDVSRNTELKKLQ
IFGAGPKVVGLAMGTKDKEDEVTRRRKVTNRSDAFNMQMRQRKGTLSVNFVDLYVCMFCG
RGNNEDKLLLCDGCDDSYHTFCLIPPLPDVPKGDWRCPKCVAE
ECSKPREAFGFEQAVRE
YTLQSFGEMADNFKSDYFNMPVHMVPTELVEKEFWRLVSSIEEDVIVEYGADISSKDFGS
GFPVKDGRRKILPEEEEYALSGWNLNNMPVLEQSVLAHINVDISGMKVPWLYVGMCFSSF
CWHIEDHWSYSINYLHWGEPKTWYGVPSHAAEQLEEVMRELAPELFESQPDLLHQLVTIM
NPNVLMEHGVPVYRTNQCAGEFVVTFPRAYHSGFNQGYNFAEAVNF
CTADWLPIGRQCVN
HYRRLRRHCVFSHEELIFKMAADPECLDVGLAAMVCKELTLMTEEETRLRESVVQMGVLM
SEEEVFELVPDDERQCSACRTTCFLSALTCSCNPERLVCLYHPTDLCPCPMQKKCLRYRY
PLEDLPSL
LYGVKVRAQSYDTWVSRVTEALSANFNHKKDLIELRVMLEDAEDRKYPENDL
FRKLRDAVKEAETCASVAQLLLSKKQKHRQSPDSGRTRTKLTVEELKAFVQQLFSLPCVI
SQARQVKNLLDDVEEFHERAQEAMMDETPDSSKLQMLIDMGSSLYVELPELPRLKQELQQ
ARWLDEVRLTLSDPQQVTLDVMKKLIDSGVGLAPHHAVEKAMAELQELLTVSERWEEKAK
VCLQARPRHSVASLESIVNEAKNIPAFLPNVLSLKEALQKAREWTAKVEAIQSGSNYAYL
EQLESLSAKGRPIPVRLEALPQVESQVAAARAWRERTGRTFLKKNSSHTLLQ
VLSPRTDI
GVYGSGKNRRKKVKELIEKEKEKDLDLEPLSDLEEGLEETRDTAMVVAVFKEREQKEIEA
MHSLRAANLAKMTMVDRIEEVKFCICRKTASGFMLQCELCKDWFHNSCVPLPKSSSQKKG
SSWQAKEVKFLCPLCMRS
RRPRLETILSLLVSLQKLPVRLPEGEALQCLTERAMSWQDRA
RQALATDELSSALAKLSVLSQRMVEQAAREKTEKIISAELQKAAANPDLQGHLPSFQQSA
FNRVVSSVSSSPRQTMDYDDEETDSDEDIRETYGYDMKDTASVKSSSSLEPNLFCDEEIP
IKSEEVVTHMWTAPSFCAEHAYSSASKSCSQGSSTPRKQPRKSPLVPRSLEPPVLELSPG
AKAQLEELMMVGDLLEVSLDETQHIWRILQATHPPSEDRFLHIMEDDSMEEKPLKVKGKD
SSEKKRKRKLEKVEQLFGEGKQKSKELKKMDKPRKKKLKLGADKSKELNKLAKKLAKEEE
RKKKKEKAAAAKVELVKESTEKKREKKVLDIPSKYDWSGAEESDDENAVCAAQNCQRPCK
DKVDWVQCDGGCDEWFHQVCVGVSPEMAENEDYICINCAKKQGPVSPGPAPPPSFIMSYK
LPMEDLKETS
Sequence length 1690
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HDMs demethylate histones
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
21937992
Unknown
Disease term Disease name Evidence References Source
Congenital Heart Disease congenital heart disease GenCC
Neurodevelopmental Disorders El Hayek-Chahrour neurodevelopmental disorder, neurodevelopmental disorder GenCC
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34270886
Autism Spectrum Disorder Associate 37992166
Breast Neoplasms Associate 23266085, 26841866, 31985200
Carcinogenesis Associate 27224921, 33621431
Carcinoma Hepatocellular Associate 23922798, 28582381, 31985200, 33621431
Carcinoma Non Small Cell Lung Associate 25162518
Carcinoma Pancreatic Ductal Associate 37880235
Carcinoma Renal Cell Associate 29506494, 31160694
Common Variable Immunodeficiency Associate 30723478
Down Syndrome Associate 33832921