Gene
KIFBP
kinesin family binding protein
- HGNC 23419(opens in a new tab)
- Ensembl gene ENSG00000198954(opens in a new tab)
- NCBI Gene 26128(opens in a new tab)
Summary
- Cytogenetic location
- 10q22.1
- Coordinates
- Chromosome 10: 68,988,803–69,016,982 (GRCh38)
- Exons
- 7 exons across 28.2 kb
- Protein
- 621 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- DKFZP586B0923, TTC20, KBP
- Previous symbols
- KIAA1279, KIF1BP
- MANE Select transcript
- ENST00000361983.7NM_015634.4
- 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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Hirschsprung Disease & Related Enteric Neurocristopathies
- Goldberg-Shprintzen syndromeAutosomal recessive
A rare syndrome caused by KIFBP variants that combines Hirschsprung disease with intellectual disability and distinctive facial features.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
A diagnosis explains the combination of features and guides developmental and surgical care.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How KIFBP 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 2.5 kb of the gene's 28.2 kb; 1,866 of those bases code for the protein.
How a genome test reads KIFBP
11
positions in KIFBP 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 28.2 kb of KIFBP, introns included, not only the 2.5 kb of exons.
Traits linked to KIFBP
The Human Phenotype Ontology lists these as features of the rare conditions KIFBP can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Intellectual disability
- Specific learning disability
- More grooves in brain
- Underdevelopment of part of brain called corpus callosum
- Epilepsy
- Fewer and broader ridges in brain
- Ventriculomegaly
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.). KIFBP gene: kinesin family binding protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/kifbp
Dante Labs. KIFBP gene: kinesin family binding protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kifbp
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