Gene Gene information from NCBI Gene database.
Entrez ID 221656
Gene name Lysine demethylase 1B
Gene symbol KDM1B
Synonyms (NCBI Gene)
AOF1C6orf193LSD2
Chromosome 6
Chromosome location 6p22.3
Summary Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009]
miRNA miRNA information provided by mirtarbase database.
161
miRTarBase ID miRNA Experiments Reference
MIRT019487 hsa-miR-148b-3p Microarray 17612493
MIRT002552 hsa-miR-373-3p Microarray 15685193
MIRT026955 hsa-miR-192-5p Microarray 19074876
MIRT1083980 hsa-miR-1244 CLIP-seq
MIRT1083981 hsa-miR-1258 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 30970244
GO:0000786 Component Nucleosome IDA 23260659
GO:0005515 Function Protein binding IPI 23260659, 28514442, 33961781
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS 19727073
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613081 21577 ENSG00000165097
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NB78
Protein name Lysine-specific histone demethylase 2 (EC 1.14.99.66) (Flavin-containing amine oxidase domain-containing protein 1) (Lysine-specific histone demethylase 1B)
Protein function Histone demethylase that demethylates 'Lys-4' of histone H3, a specific tag for epigenetic transcriptional activation, thereby acting as a corepressor. Required for de novo DNA methylation of a subset of imprinted genes during oogenesis. Acts by
PDB 4FWE , 4FWF , 4FWJ , 4GU0 , 4GU1 , 4GUR , 4GUS , 4GUT , 4GUU , 4HSU , 6R1U , 6R25 , 7XE1 , 7XE2 , 7XE3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07496 zf-CW 138 191 CW-type Zinc Finger Domain
PF04433 SWIRM 282 364 SWIRM domain Domain
PF01593 Amino_oxidase 392 820 Flavin containing amine oxidoreductase Domain
Sequence
MATPRGRTKKKASFDHSPDSLPLRSSGRQAKKKATETTDEDEDGGSEKKYRKCEKAGCTA
TCPVCFASASERCAKNGYTSRWYHLSCGEHFCNECFDHYYRSHKDGYDKYTTWKKIWTSN
GKTEPSPKAFMADQQLPYWVQCTKPECRKWRQLTKEIQLTPQIAKTYRCGMKPNTAIKPE
TSDHCSLPEDL
RVLEVSNHWWYSMLILPPLLKDSVAAPLLSAYYPDCVGMSPSCTSTNRA
AATGNASPGKLEHSKAALSVHVPGMNRYFQPFYQPNECGKALCVRPDVMELDELYEFPEY
SRDPTMYLALRNLILALWYTNCKEALTPQKCIPHIIVRGLVRIRCVQEVERILYFMTRKG
LINT
GVLSVGADQYLLPKDYHNKSVIIIGAGPAGLAAARQLHNFGIKVTVLEAKDRIGGR
VWDDKSFKGVTVGRGAQIVNGCINNPVALMCEQLGISMHKFGERCDLIQEGGRITDPTID
KRMDFHFNALLDVVSEWRKDKTQLQDVPLGEKIEEIYKAFIKESGIQFSELEGQVLQFHL
SNLEYACGSNLHQVSARSWDHNEFFAQFAGDHTLLTPGYSVIIEKLAEGLDIQLKSPVQC
IDYSGDEVQVTTTDGTGYSAQKVLVTVPLALLQKGAIQFNPPLSEKKMKAINSLGAGIIE
KIALQFPYRFWDSKVQGADFFGHVPPSASKRGLFAVFYDMDPQKKHSVLMSVIAGEAVAS
VRTLDDKQVLQQCMATLRELFKEQEVPDPTKYFVTRWSTDPWIQMAYSFVKTGGSGEAYD
IIAEDIQGTVFFAGEATNRHFPQTVTGAYLSGVREASKIA
AF
Sequence length 822
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HDMs demethylate histones
UCH proteinases
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 29892015, 30061737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 29892015
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 24924415, 29137219
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36002648 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 31160694 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32726297 Associate
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 31160694
★☆☆☆☆
Found in Text Mining only
Ewings sarcoma Ewing sarcoma BEFREE 31231465
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 26766590
★☆☆☆☆
Found in Text Mining only