Gene
KDM3B
lysine demethylase 3B
- HGNC 1337↗(opens in a new tab)
- Ensembl gene ENSG00000120733↗(opens in a new tab)
- NCBI Gene 51780↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q31.2
- Coordinates
- Chromosome 5: 138,352,685–138,437,027 (GRCh38)
- Exons
- 24 exons across 84.3 kb
- Protein
- 1,761 amino acids
- Also known as
- KIAA1082, NET22
- Previous symbols
- C5orf7, JMJD1B
- MANE Select transcript
- ENST00000314358.10NM_016604.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Intellectual Disability
One of 233 genes linked to it
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
How KDM3B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.7 kb of the gene's 84.3 kb; 5,286 of those bases code for the protein.
How a genome test reads KDM3B
18
positions in KDM3B where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 84.3 kb of KDM3B, introns included, not only the 6.7 kb of exons.
Genes linked to the same conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to KDM3B
The Human Phenotype Ontology lists these as features of the rare conditions KDM3B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Motor delay
- Aggressive behavior
- Attention deficit
- Autism spectrum disorder
- Delayed ability to walk
- Epilepsy
- Gliosis
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). KDM3B gene: lysine demethylase 3B. Retrieved 17 October 2026, from https://dantelabs.com/genes/kdm3b
Dante Labs. KDM3B gene: lysine demethylase 3B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kdm3b
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