Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10765
Gene name Gene Name - the full gene name approved by the HGNC.
Lysine demethylase 5B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KDM5B
Synonyms (NCBI Gene) Gene synonyms aliases
CT31, JARID1B, MRT65, PLU-1, PLU1, PPP1R98, PUT1, RBBP2H1A, RBP2-H1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein pl
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs375695605 G>A,C Pathogenic Coding sequence variant, missense variant
rs755833290 AA>-,AAA Likely-pathogenic Frameshift variant, coding sequence variant
rs1558478047 A>C Likely-pathogenic Stop gained, coding sequence variant
rs1558479778 G>- Pathogenic Frameshift variant, coding sequence variant
rs1558498928 G>A Likely-pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016728 hsa-miR-335-5p Microarray 18185580
MIRT020412 hsa-miR-29c-3p Sequencing 20371350
MIRT046553 hsa-let-7i-5p CLASH 23622248
MIRT038506 hsa-miR-296-3p CLASH 23622248
MIRT656976 hsa-miR-766-3p 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:0000785 Component Chromatin IBA
GO:0003676 Function Nucleic acid binding EXP 20403335
GO:0003676 Function Nucleic acid binding IMP 20403335
GO:0003677 Function DNA binding IDA 15640446
GO:0003677 Function DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605393 18039 ENSG00000117139
Protein
UniProt ID Q9UGL1
Protein name Lysine-specific demethylase 5B (EC 1.14.11.67) (Cancer/testis antigen 31) (CT31) (Histone demethylase JARID1B) (Jumonji/ARID domain-containing protein 1B) (PLU-1) (Retinoblastoma-binding protein 2 homolog 1) (RBP2-H1) ([histone H3]-trimethyl-L-lysine(4) d
Protein function Histone demethylase that demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:24952722, PubMed:27214403, PubMed:28262558). Does not demethylate histone H3 'Lys-9' or H3 'Lys-27'. Demethylates trimethylated,
PDB 2MA5 , 2MNY , 2MNZ , 5A1F , 5A3N , 5A3P , 5A3T , 5A3W , 5FPL , 5FPU , 5FUN , 5FUP , 5FV3 , 5FY4 , 5FY5 , 5FY9 , 5FYB , 5FYS , 5FYT , 5FYU , 5FYV , 5FYY , 5FYZ , 5FZ0 , 5FZ1 , 5FZ3 , 5FZ4 , 5FZ6 , 5FZ7 , 5FZ8 , 5FZ9 , 5FZA , 5FZB , 5FZC , 5FZD , 5FZE , 5FZF , 5FZG , 5FZH , 5FZI , 5FZK , 5FZL , 5FZM , 5LW9 , 5LWB , 6EIN , 6EIU , 6EIY , 6EJ0 , 6EJ1 , 6EK6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02375 JmjN 33 66 jmjN domain Family
PF01388 ARID 99 183 ARID/BRIGHT DNA binding domain Domain
PF00628 PHD 311 359 PHD-finger Domain
PF02373 JmjC 486 602 JmjC domain, hydroxylase Domain
PF02928 zf-C5HC2 692 744 C5HC2 zinc finger Domain
PF08429 PLU-1 757 1088 PLU-1-like protein Family
PF00628 PHD 1178 1224 PHD-finger Domain
PF00628 PHD 1486 1538 PHD-finger Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in testis. Down-regulated in melanoma and glioblastoma. Up-regulated in breast cancer (at protein level). {ECO:0000269|PubMed:10336460, ECO:0000269|PubMed:10616211, ECO:0000269|PubMed:1087866
Sequence
MEAATTLHPGPRPALPLGGPGPLGEFLPPPECPVFEPSWEEFADPFAFIHKIRPIAEQTG
ICKVRP
PPDWQPPFACDVDKLHFTPRIQRLNELEAQTRVKLNFLDQIAKYWELQGSTLKI
PHVERKILDLFQLNKLVAEEGGFAVVCKDRKWTKIATKMGFAPGKAVGSHIRGHYERILN
PYN
LFLSGDSLRCLQKPNLTTDTKDKEYKPHDIPQRQSVQPSETCPPARRAKRMRAEAMN
IKIEPEETTEARTHNLRRRMGCPTPKCENEKEMKSSIKQEPIERKDYIVENEKEKPKSRS
KKATNAVDLYVCLLCGSGNDEDRLLLCDGCDDSYHTFCLIPPLHDVPKGDWRCPKCLAQE
CSKPQEAFGFEQAARDYTLRTFGEMADAFKSDYFNMPVHMVPTELVEKEFWRLVSTIEED
VTVEYGADIASKEFGSGFPVRDGKIKLSPEEEEYLDSGWNLNNMPVMEQSVLAHITADIC
GMKLPWLYVGMCFSSFCWHIEDHWSYSINYLHWGEPKTWYGVPGYAAEQLENVMKKLAPE
LFVSQPDLLHQLVTIMNPNTLMTHEVPVYRTNQCAGEFVITFPRAYHSGFNQGFNFAEAV
NF
CTVDWLPLGRQCVEHYRLLHRYCVFSHDEMICKMASKADVLDVVVASTVQKDMAIMIE
DEKALRETVRKLGVIDSERMDFELLPDDERQCVKCKTTCFMSAISCSCKPGLLVCLHHVK
ELCSCPPYKYKLRYRYTLDDLYPM
MNALKLRAESYNEWALNVNEALEAKINKKKSLVSFK
ALIEESEMKKFPDNDLLRHLRLVTQDAEKCASVAQQLLNGKRQTRYRSGGGKSQNQLTVN
ELRQFVTQLYALPCVLSQTPLLKDLLNRVEDFQQHSQKLLSEETPSAAELQDLLDVSFEF
DVELPQLAEMRIRLEQARWLEEVQQACLDPSSLTLDDMRRLIDLGVGLAPYSAVEKAMAR
LQELLTVSEHWDDKAKSLLKARPRHSLNSLATAVKEIEEIPAYLPNGAALKDSVQRARDW
LQDVEGLQAGGRVPVLDTLIELVTRGRSIPVHLNSLPRLETLVAEVQAWKECAVNTFLTE
NSPYSLLE
VLCPRCDIGLLGLKRKQRKLKEPLPNGKKKSTKLESLSDLERALTESKETAS
AMATLGEARLREMEALQSLRLANEGKLLSPLQDVDIKICLCQKAPAAPMIQCELCRDAFH
TSCVAVPSISQGLRIWLCPHCRRS
EKPPLEKILPLLASLQRIRVRLPEGDALRYMIERTV
NWQHRAQQLLSSGNLKFVQDRVGSGLLYSRWQASAGQVSDTNKVSQPPGTTSFSLPDDWD
NRTSYLHSPFSTGRSCIPLHGVSPEVNELLMEAQLLQVSLPEIQELYQTLLAKPSPAQQT
DRSSPVRPSSEKNDCCRGKRDGINSLERKLKRRLEREGLSSERWERVKKMRTPKKKKIKL
SHPKDMNNFKLERERSYELVRSAETHSLPSDTSYSEQEDSEDEDAICPAVSCLQPEGDEV
DWVQCDGSCNQWFHQVCVGVSPEMAEKEDYICVRCTVK
DAPSRK
Sequence length 1544
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HDMs demethylate histones
TFAP2 (AP-2) family regulates transcription of cell cycle factors
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal recessive 65 rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1558498928, rs1572705473 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 34573379
Autism Spectrum Disorder Associate 28344757, 28720891, 34573379
Autistic Disorder Associate 39202393
Body Dysmorphic Disorders Associate 34573379, 35278764
Bovine Respiratory Disease Complex Associate 37788244
Breast Neoplasms Associate 10336460, 17363312, 21821892, 21969366, 22371483, 22420752, 24937458, 26125737, 26207617, 26917489, 28138513, 29282222, 30472020, 31060229, 31776402
View all (3 more)
Breast Neoplasms Inhibit 24412361
Breast Neoplasms Stimulate 30588710, 37254514
Camptodactyly 1 Associate 29276005
Carcinogenesis Associate 20226085, 22371483, 24412361, 30092824, 36697763