Seroatlas · Human Serome Atlas

KITLG

Kit ligand

Also known as: DFNA69, FPH2, Kitl, KL-1, MGF, SCF, SCF_HUMAN, SF, SLF

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P21583
Gene
KITLG
Ensembl
ENSG00000049130
Chromosome
12
Canonical length
273 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, RAS pathway related proteins
Subcellular location
Vesicles
Secretome location
Intracellular and membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

273 residues, UniProt reviewed canonical sequence.

>P21583|KITLG
     1  MKKTQTWILT CIYLQLLLFN PLVKTEGICR NRVTNNVKDV TKLVANLPKD YMITLKYVPG
    61  MDVLPSHCWI SEMVVQLSDS LTDLLDKFSN ISEGLSNYSI IDKLVNIVDD LVECVKENSS
   121  KDLKKSFKSP EPRLFTPEEF FRIFNRSIDA FKDFVVASET SDCVVSSTLS PEKDSRVSVT
   181  KPFMLPPVAA SSLRNDSSSS NRKAKNPPGD SSLHWAAMAL PALFSLIIGF AFGALYWKKR
   241  QPSLTRAVEN IQINEEDNEI SMLQEKEREF QEV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KITLG can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.45
Highest tissue expression
30 nTPM

Expression across tissuesHPA

Tissue

  • lung: 30 nTPM
  • rectum: 21 nTPM
  • smooth muscle: 18 nTPM
  • colon: 18 nTPM
  • gallbladder: 17 nTPM
  • stomach: 17 nTPM

Single-cell type

  • renal connecting tubule cells: 521 nCPM
  • distal convoluted tubule cells: 272 nCPM
  • renal collecting duct principal cells: 269 nCPM
  • papillary tip epithelial cells: 250 nCPM
  • respiratory ionocytes: 188 nCPM
  • bergmann glia: 155 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • white matter: 23 nTPM
  • thalamus: 22 nTPM
  • basal ganglia: 17 nTPM
  • cerebral cortex: 17 nTPM
  • amygdala: 15 nTPM
  • hippocampal formation: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KITLG.

Disease | AllUniProt

Conditions KITLG is implicated in, by any mechanism.

  • Hyperpigmentation with or without hypopigmentation, familial progressive (FPHH) MIM:145250
  • Deafness, congenital, unilateral or asymmetric (DCUA) MIM:616697
  • Waardenburg syndrome 2F (WS2F) MIM:619947

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 150 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hyperpigmentation with or without hypopigmentation, familial progressive
  • Waardenburg syndrome 2F
  • Autosomal dominant nonsyndromic hearing loss 69

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.42
gnomAD pLI
0.85
gnomAD missense Z
0.81
DepMap mean gene effect
0.11
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KITLG in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KITLG as an antibody target. Whether an autoantibody or antibody against KITLG could matter depends on whether native KITLG is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KITLG is annotated at the cell surface, where native KITLG is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label KITLG as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KITLG. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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