KITLG (KIT Ligand) Gene
A key regulator of hematopoiesis, melanogenesis, and germ cell development, with implications in cancer and pigmentation disorders.
Gene Information Card
| Symbol | KITLG |
|---|---|
| Full Name | KIT ligand |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.32 |
| NCBI Gene ID | 4254 ncbi.nlm.nih.gov/gene/4254 |
| Ensembl ID | ENSG00000049130 |
| UniProt ID | P21583 |
| OMIM ID | 184745 |
| HGNC ID | 6343 |
| Aliases | SCF, MGF, SF, KL-1, Kitl, FPH2, SHEP7 |
Description
The KITLG gene encodes the KIT ligand (also known as stem cell factor, SCF), a cytokine that binds to the KIT receptor (CD117). This interaction is critical for the survival, proliferation, and differentiation of hematopoietic stem cells, melanocytes, and germ cells. Alternative splicing produces soluble and membrane-bound isoforms, which differentially regulate KIT signaling. Mutations in KITLG are associated with pigmentation disorders, hematologic malignancies, and germ cell tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Piebaldism | Loss-of-function mutations in KITLG reduce melanocyte migration/survival, leading to depigmented patches. | OMIM #172800 |
| Acute Myeloid Leukemia (AML) | KITLG overexpression or autocrine signaling promotes leukemic cell proliferation via KIT activation. | COSMIC; PubMed studies |
| Germ Cell Tumors (e.g., seminoma) | Gain-of-function mutations or amplification of KITLG activate KIT signaling, driving tumorigenesis. | COSMIC; OMIM #273300 |
| Mastocytosis | KITLG-KIT signaling dysregulation contributes to mast cell hyperplasia. | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | High |
| Skin | 8.2 | Medium |
| Testis | 15.1 | High |
| Small Intestine | 6.8 | Medium |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 18.4 | High expression; autocrine loop |
| A549 (lung) | 5.1 | Moderate expression |
| HEK293 (embryonic kidney) | 3.2 | Low expression |
| HCT116 (colon) | 4.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.52G>A (p.Ala18Thr) | Missense | <0.1% | Unknown; rare variant in population databases |
| c.107T>C (p.Leu36Pro) | Missense | <0.1% | Associated with piebaldism; loss of function |
| c.1A>G (p.Met1?) | Start loss | <0.1% | Likely loss of function; reported in AML |
| Amplification | Copy number gain | ~5% in seminoma | Gain of function; increased KITLG expression |
Mutation functional classification
Loss of Function (LOF)
Missense or nonsense mutations (e.g., p.Leu36Pro) impair KITLG binding to KIT, reducing melanocyte development and causing piebaldism.
Gain of Function (GOF)
Amplification or overexpression of KITLG in germ cell tumors leads to constitutive KIT signaling, promoting cell proliferation.
Dominant Negative (DN)
Not well documented for KITLG; most mutations are recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
Pathways
• KITLG-KIT signaling pathway (Reactome: R-HSA-1433557)
• PI3K/AKT signaling (Reactome: R-HSA-1257604)
• MAPK/ERK signaling (Reactome: R-HSA-5673001)
• Hematopoietic cell lineage (KEGG: hsa04640)
• Melanogenesis (KEGG: hsa04916)
Protein Summary
The KIT ligand (SCF) is a 245-amino acid glycoprotein that exists as a membrane-bound or soluble form. It binds as a dimer to the KIT receptor tyrosine kinase, inducing receptor dimerization and autophosphorylation. This activates downstream pathways including PI3K/AKT, MAPK/ERK, and STAT, regulating cell survival, proliferation, and migration. The protein is essential for hematopoiesis, melanogenesis, and gametogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KITLG Knockout HEK293 Cell Line | EDJ-KQ680 | Human | 4254 | Details Get a Quote |
| KITLG Knockout A-549 Cell Line | EDJ-KQ19221 | Human | 4254 | Details Get a Quote |
| KITLG Knockout HCT 116 Cell Line | EDJ-KQ19222 | Human | 4254 | Details Get a Quote |
| KITLG Knockout HeLa Cell Line | EDJ-KQ19223 | Human | 4254 | Details Get a Quote |
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