Developmental Brain Disorder Gene Database

Missense Gene

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Missense

KDM5B

HGNC:18039 (protein-coding gene)

lysine demethylase 5B

Unique Cases:: 5

Disorders:: ID, ASD, EP

Last Updated:: November 4, 2024

Gene Summary:

Gene 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, dimethylated and monomethylated H3 'Lys-4'. Acts as a transcriptional corepressor for FOXG1B and PAX9. Favors the proliferation of breast cancer cells by repressing tumor suppressor genes such as BRCA1 and HOXA5 (PubMed:24952722). In contrast, may act as ... (Source: Uniprot)

Previous symbols: JARID1B

Alias symbols: RBBP2H1A, PLU-1, CT31, PPP1R98

Chromosomal Location: 1q32.1

Genomic Coordinates: GRCh37:chr1:202694313-202778598; GRCh38:chr1:202724495-202809470

Associated Disorders: Intellectual Disability, Autism, Epilepsy

Predictive Scores:

HI Score (Decipher): 28

pLI (gnomAD): 0.00

LOEUF (gnomAD): 0.57

Classifications from External Sources:

SFARI Score (SFARI): 1

DDG2P Classification (DDG2P): Strong

ClinGen Classification (ClinGen): Moderate1

GenCC Classification (GenCC): No Known Disease Relationship1 Strong2 Supportive1 Limited1 Moderate1

Cases:

Publications:

External References:

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.

NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.

DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.

SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.

ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.

GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.