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  2. KDM5B - lysine demethylase 5B Gene

KDM5B - lysine demethylase 5B Gene

Homo sapiens

Also known as CT31; PLU1; PUT1; MRT65; PLU-1; JARID1B; PPP1R98; RBP2-H1; RBBP2H1A

Gene ID: 10765 | Gene type: protein coding

About KDM5B

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:202,724,495-202,808,421 (from NCBI)

This gene has 40 transcripts (splice variants), 283 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in testis (RPKM 55.0), skin (RPKM 8.8) and 18 other tissues.

Summary

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 plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain Cancer cells. This protein may also play a role in genome stability and DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

KDM5B Products(4)

mRNA Protein Name
NM_001314042.2 NP_001300971.1 lysine-specific demethylase 5B isoform 1
NM_001347591.2 NP_001334520.1 lysine-specific demethylase 5B isoform 3
NM_001399817.1 NP_001386746.1 lysine-specific demethylase 5B isoform 4
NM_006618.5 NP_006609.3 lysine-specific demethylase 5B isoform 2

KDM5B Protein Structure

JmjN

JmjN: jmjN domain (33 - 66)

ARID

ARID: ARID/BRIGHT DNA binding domain (95 - 183)

PHD

PHD: PHD-finger (311 - 357)

JmjC

JmjC: JmjC domain, hydroxylase (486 - 602)

zf-C5HC2

zf-C5HC2: C5HC2 zinc finger (692 - 745)

PLU-1

PLU-1: PLU-1-like protein (756 - 1088)

PHD

PHD: PHD-finger (1178 - 1223)

PHD

PHD: PHD-finger (1492 - 1537)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1544 a.a.
Protein Preferred Names Protein Names

lysine-specific demethylase 5B

[histone H3]-trimethyl-L-lysine(4) demethylase 5B

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Recessive 65

Mental Retardation, Autosomal Recessive 65

MRT65

Autosomal Recessive Intellectual Developmental Disorder 65

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Autosomal Dominant Non-Syndromic Intellectual Disability
Shukla-Vernon Syndrome

SHUVER

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Syndromic X-Linked Intellectual Disability Claes-Jensen Type

Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type

Mrxscj

Mrxsj

Syndromic X-Linked Intellectual Disability Due To Jarid1c Mutation

Syndromic X-Linked Mental Retardation Jarid1c-Related

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus KDM5B VGNC VGNC:30531
Canis familiaris KDM5B VGNC VGNC:42328
Mus musculus KDM5B MGD MGI:1922855
Felis catus KDM5B VGNC VGNC:63072
Rattus norvegicus KDM5B RGD RGD:1565602
Macaca mulatta KDM5B VGNC VGNC:73847