Gene
KIT
KIT proto-oncogene, receptor tyrosine kinase
- HGNC 6342↗(opens in a new tab)
- Ensembl gene ENSG00000157404↗(opens in a new tab)
- NCBI Gene 3815↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q12
- Coordinates
- Chromosome 4: 54,657,957–54,740,715 (GRCh38)
- Exons
- 21 exons across 82.8 kb
- Protein
- 976 amino acids
- Also known as
- CD117, SCFR, C-Kit
- Previous symbols
- PBT
- MANE Select transcript
- ENST00000288135.6NM_000222.3
- 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 KIT yet. The test sequences your whole genome, so your data includes it all the same.
How KIT 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 5.1 kb of the gene's 82.8 kb; 2,931 of those bases code for the protein.
How a genome test reads KIT
91
positions in KIT 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 82.8 kb of KIT, introns included, not only the 5.1 kb of exons.
Traits linked to KIT
The Human Phenotype Ontology lists these as features of the rare conditions KIT can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Abnormal blistering of the skin
- Abnormal skin pigmentation
- Itching
- Loss of hair color
- Piebald skin depigmentation
- White part of hair above forehead
- Erythematous papule
- Flat, discolored area of skin
Show 16 more traits
Abnormality of blood and blood-forming tissues
- Abnormal mast cell morphology
- Blood tumor
- Cutaneous mastocytosis
- Myeloid leukemia
- Bone marrow hypercellularity
- Elevated white blood count
- Gastrointestinal bleeding
- High blood eosinophil count
Show 14 more traits
- Low platelet count
- Myeloproliferative disorder
- Normochromic anemia
- Normocytic anemia
- Acute myeloid leukemia
- Cancer of lymphatic system
- Chronic myelomonocytic leukemia
- Granulocytic hyperplasia
- Increased blood neutrophil counts
- Increased total basophil count
- Low number of red blood cells or hemoglobin
- Myelodysplasia
- Chronic lymphatic leukemia
- Multiple myeloma
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.). KIT gene: KIT proto-oncogene, receptor tyrosine kinase. Retrieved 16 October 2026, from https://dantelabs.com/genes/kit
Dante Labs. KIT gene: KIT proto-oncogene, receptor tyrosine kinase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/kit
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