KDM2B
entrez
84678
canonical
uniprot
Q8NHM5
canonical
ensembl
ENSG00000089094
resolver
ensp
ENSP00000366269
resolver
ensp
ENSP00000366271
resolver
ensp
ENSP00000520639
resolver
ensp
ENSP00000520640
resolver
ensp
ENSP00000520643
resolver
ensp
ENSP00000520644
resolver
enst
ENST00000538243
resolver
enst
ENST00000717755
resolver
enst
ENST00000717756
resolver
genesymbol
KDM2B
resolver
genesymbol_syn
CXXC2
resolver
genesymbol_syn
FBL10
resolver
genesymbol_syn
FBXL10
resolver
genesymbol_syn
JHDM1B
resolver
genesymbol_syn
NDY1
resolver
genesymbol_syn
PCCX2
resolver
hgnc
HGNC:13610
resolver
uniprot
A0ABB0MV36
resolver
uniprot
A0ABB0MV58
resolver
uniprot
A8MRS1
resolver
uniprot
B4DSN4
resolver
uniprot
Q1RLM7
resolver
uniprot
Q8NCI2
resolver
uniprot
Q96HC7
resolver
uniprot
Q96SL0
resolver
uniprot
Q96T03
resolver
uniprot
Q9NS96
resolver
uniprot
Q9UF75
resolver
uniprot_entry
A0ABB0MV36_HUMAN
resolver
uniprot_entry
A0ABB0MV58_HUMAN
resolver
uniprot_entry
B4DSN4_HUMAN
resolver
uniprot_entry
KDM2B_HUMAN
resolver
uniprot_sec
A8MRS1
resolver
uniprot_sec
Q1RLM7
resolver
uniprot_sec
Q8NCI2
resolver
uniprot_sec
Q96HC7
resolver
uniprot_sec
Q96SL0
resolver
uniprot_sec
Q96T03
resolver
uniprot_sec
Q9NS96
resolver
uniprot_sec
Q9UF75
resolver
activity_regulation
ACTIVITY REGULATION: Histone demethylase activity is inhibited by fumarate. {ECO:0000269|PubMed:26237645}.
uniprot
proteins
amino_acid_sequence
MAGPQMGGSAEDHPPRKRHAAEKQKKKTVIYTKCFEFESATQRPIDRQRYDENEDLSDVEEIVSVRGFSLEEKLRSQLYQGDFVHAMEGKDFNYEYVQREALRVPLIFREKDGLGIKMPDPDFTVRDVKLLVGSRRLVDVMDVNTQKGTEMSMSQFVRYYETPEAQRDKLYNVISLEFSHTKLEHLVKRPTVVDLVDWVDNMWPQHLKEKQTEATNAIAEMKYPKVKKYCLMSVKGCFTDFHIDFGGTSVWYHVFRGGKIFWLIPPTLHNLALYEEWVLSGKQSDIFLGDRVERCQRIELKQGYTFFIPSGWIHAVYTPVDSLVFGGNILHSFNVPMQLRIYEIEDRTRVQPKFRYPFYYEMCWYVLERYVYCVTQRSHLTQEYQRESMLIDAPRKPSIDGFSSDSWLEMEEEACDQQPQEEEEKDEEGEGRDRAPKPPTDGSTSPTSTPSEDQEALGKKPKAPALRFLKRTLSNESEESVKSTTLAVDYPKTPTGSPATEVSAKWTHLTEFELKGLKALVEKLESLPENKKCVPEGIEDPQALLEGVKNVLKEHADDDPSLAITGVPVVTWPKKTPKNRAVGRPKGKLGPASAVKLAANRTTAGARRRRTRCRKCEACLRTECGECHFCKDMKKFGGPGRMKQSCIMRQCIAPVLPHTAVCLVCGEAGKEDTVEEEEGKFNLMLMECSICNEIIHPGCLKIKESEGVVNDELPNCWECPKCNHAGKTGKQKRGPGFKYASNLPGSLLKEQKMNRDNKEGQEPAKRRSECEEAPRRRSDEHSKKVPPDGLLRRKSDDVHLRKKRKYEKPQELSGRKRASSLQTSPGSSSHLSPRPPLGSSLSPWWRSSLTYFQQQLKPGKEDKLFRKKRRSWKNAEDRMALANKPLRRFKQEPEDELPEAPPKTRESDHSRSSSPTAGPSTEGAEGPEEKKKVKMRRKRRLPNKELSRELSKELNHEIQRTENSLANENQQPIKSEPESEGEEPKRPPGICERPHRFSKGLNGTPRELRHQLGPSLRSPPRVISRPPPSVSPPKCIQMERHVIRPPPISPPPDSLPLDDGAAHVMHREVWMAVFSYLSHQDLCVCMRVCRTWNRWCCDKRLWTRIDLNHCKSITPLMLSGIIRRQPVSLDLSWTNISKKQLSWLINRLPGLRDLVLSGCSWIAVSALCSSSCPLLRTLDVQWVEGLKDAQMRDLLSPPTDNRPGQMDNRSKLRNIVELRLAGLDITDASLRLIIRHMPLLSKLHLSYCNHVTDQSINLLTAVGTTTRDSLTEINLSDCNKVTDQCLSFFKRCGNICHIDLRYCKQVTKEGCEQFIAEMSVSVQFGQVEEKLLQKLS
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities (NEDCRO) [MIM:621474]: An autosomal dominant disorder characterized by global developmental delay, hypotonia, mildly delayed walking and speech acquisition, variably impaired intellectual development, and behavioral abnormalities or autistic features. Congenital heart defects are observed in most patients, with additional common findings including musculoskeletal, ophthalmological, and urogenital anomalies. {ECO:0000269|PubMed:36322151, ECO:0000269|PubMed:40420380}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.11.27
uniprot
proteins
function
FUNCTION: Histone demethylase that demethylates 'Lys-4' and 'Lys-36' of histone H3, thereby playing a central role in histone code (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially demethylates trimethylated H3 'Lys-4' and dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36' (PubMed:16362057, PubMed:17994099, PubMed:26237645). Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation (PubMed:16362057, PubMed:17994099). May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (Probable). {ECO:0000269|PubMed:16362057, ECO:0000269|PubMed:17994099, ECO:0000269|PubMed:26237645, ECO:0000305}.
uniprot
proteins
mass_dalton
152615
uniprot
proteins
mutagenesis
MUTAGEN 745; /note="G->S: Decreased DNA binding."; /evidence="ECO:0000269|PubMed:40420380"; MUTAGEN 1064; /note="V->W: Increased interaction with UBB."; /evidence="ECO:0000269|PubMed:30033217"; MUTAGEN 1069; /note="V->A: Decreased ininteraction with UBB."; /evidence="ECO:0000269|PubMed:30033217"; MUTAGEN 1072; /note="A->Y: Increased interaction with UBB."; /evidence="ECO:0000269|PubMed:30033217
uniprot
proteins
protein_family
JHDM1 histone demethylase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16362057
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
17994099
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
26237645
uniprot
proteins
pubmed
27568929
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29276034
uniprot
proteins
pubmed
30033217
uniprot
proteins
pubmed
36322151
uniprot
proteins
pubmed
40420380
uniprot
proteins
sequence_length
1336
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:17994099}. Nucleus {ECO:0000269|PubMed:26237645}. Chromosome {ECO:0000269|PubMed:26237645}.
uniprot
proteins