Gene
KDM2B
lysine demethylase 2B
- HGNC 13610↗(opens in a new tab)
- Ensembl gene ENSG00000089094↗(opens in a new tab)
- NCBI Gene 84678↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q24.31
- Coordinates
- Chromosome 12: 121,429,096–121,581,023 (GRCh38)
- Exons
- 23 exons across 151.9 kb
- Protein
- 1,336 amino acids
- Also known as
- PCCX2, CXXC2, Fbl10, JHDM1B
- Previous symbols
- FBXL10
- MANE Select transcript
- ENST00000377071.9NM_032590.5
- 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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No Genome Test report reads KDM2B yet. The test sequences your whole genome, so your data includes it all the same.
How KDM2B 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 5.3 kb of the gene's 151.9 kb; 4,011 of those bases code for the protein.
How a genome test reads KDM2B
3
positions in KDM2B 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 151.9 kb of KDM2B, introns included, not only the 5.3 kb of exons.
Traits linked to KDM2B
The Human Phenotype Ontology lists these as features of the rare conditions KDM2B can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally large tongue
- Asymmetry of the posterior head
- Bifid uvula
- Big calvaria
- Crease in skin under the eye
- Downward slanting of the opening between the eyelids
- Flat back of skull
- Midface retrusion
Show 27 more traits
- Prominent nasal tip
- Unopened tear duct
- Wide nose
- Receding chin
- Abnormally small head
- Broad forehead
- Decreased volume of lip
- Deep philtrum
- Depressed nasal bridge
- Drooping lower lip
- Exaggerated cupid's bow
- Eye folds
- Facial asymmetry
- Full lips
- High forehead
- Highly arched eyebrow
- Long face
- Monobrow
- Narrow forehead
- Narrow mouth
- Nasal tip, upturned
- Open mouth
- Posterior fossa cyst
- Round face
- Short opening between the eyelids
- Upward slanting of the opening between the eyelids
- Wide nasal bridge
Abnormality of the nervous system
- Absent speech development
- Delayed ability to sit
- Delayed fine motor development
- Delayed motor skills
- IQ between 34 and 49
- Repetitive movements
- Skin-picking
- Toe walking
Show 21 more traits
- Delayed ability to walk
- Global developmental delay
- Motor delay
- Autism spectrum disorder
- Delayed speech and language development
- Extra-axial cerebrospinal fluid accumulation
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Intellectual disability
- Intellectual disability, mild
- Intellectual disability, severe
- Mild global developmental delay
- Moderate global developmental delay
- Attention deficit
- Delayed CNS myelination
- Epilepsy
- Lateral ventricle dilatation
- Severe global developmental delay
- Specific learning disability
- Thin corpus callosum
- Too much cerebrospinal fluid in the brain
- Ventriculomegaly
Abnormality of the cardiovascular system
- Enlarged heart
- Muscular ventricular septal defect
- Secundum atrial septal defect
- An opening in the wall separating the top two chambers of the heart
- Aortic valve has two leaflets rather than three
- Narrowing of pulmonic valve
- Patent ductus arteriosus
- Hole in heart wall separating two lower heart chambers
Show 3 more traits
Abnormality of the eye
- Astigmatism
- Close sighted
- Cross-eyed
- Duane anomaly
- Enlarged cornea
- Notched pupil
- Outward facing eye ball
- Abnormally close eyes
Show 3 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.
- 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.). KDM2B gene: lysine demethylase 2B. Retrieved 17 October 2026, from https://dantelabs.com/genes/kdm2b
Dante Labs. KDM2B gene: lysine demethylase 2B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kdm2b
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