Details for: KITLG

Gene ID: 4254

Symbol: KITLG

Ensembl ID: ENSG00000049130

Description: KIT ligand

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 11.8017
    Cell Significance Index: 258.4200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.5439
    Cell Significance Index: 251.6500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.0969
    Cell Significance Index: 28.6100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.9814
    Cell Significance Index: 47.5200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.8851
    Cell Significance Index: 115.8700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.5575
    Cell Significance Index: 309.0900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.4650
    Cell Significance Index: 21.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2560
    Cell Significance Index: 251.9500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.2017
    Cell Significance Index: 431.0400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1755
    Cell Significance Index: 1061.4200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8893
    Cell Significance Index: 40.3100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.8847
    Cell Significance Index: 12.8500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8413
    Cell Significance Index: 91.5100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8258
    Cell Significance Index: 134.3100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7304
    Cell Significance Index: 43.8500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6773
    Cell Significance Index: 86.8300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.6174
    Cell Significance Index: 12.0500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.5760
    Cell Significance Index: 3.4800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4450
    Cell Significance Index: 9.6400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3601
    Cell Significance Index: 24.9000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2905
    Cell Significance Index: 33.8500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2372
    Cell Significance Index: 6.6300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2253
    Cell Significance Index: 6.4300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1736
    Cell Significance Index: 6.1000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1253
    Cell Significance Index: 55.3800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.1122
    Cell Significance Index: 1.7800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1008
    Cell Significance Index: 4.4600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0740
    Cell Significance Index: 1.8500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0735
    Cell Significance Index: 13.9900
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 0.0681
    Cell Significance Index: 0.5500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0473
    Cell Significance Index: 25.8100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0423
    Cell Significance Index: 26.4400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0292
    Cell Significance Index: 18.5400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0106
    Cell Significance Index: 1.3100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0101
    Cell Significance Index: 7.6800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0073
    Cell Significance Index: 1.2500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0048
    Cell Significance Index: 0.8600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0101
    Cell Significance Index: -18.9900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0117
    Cell Significance Index: -5.3000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0136
    Cell Significance Index: -10.0700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0138
    Cell Significance Index: -10.0900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0141
    Cell Significance Index: -25.9900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0169
    Cell Significance Index: -25.9900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0190
    Cell Significance Index: -2.6100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0195
    Cell Significance Index: -26.5700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0201
    Cell Significance Index: -11.3400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0298
    Cell Significance Index: -0.8100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0595
    Cell Significance Index: -12.5400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0710
    Cell Significance Index: -20.4400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0886
    Cell Significance Index: -2.3300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0981
    Cell Significance Index: -11.2000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1109
    Cell Significance Index: -11.3300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1109
    Cell Significance Index: -3.1800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1163
    Cell Significance Index: -5.8800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1228
    Cell Significance Index: -6.8900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1280
    Cell Significance Index: -14.6700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1345
    Cell Significance Index: -2.7000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1477
    Cell Significance Index: -4.7300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1479
    Cell Significance Index: -21.5000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1646
    Cell Significance Index: -21.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1664
    Cell Significance Index: -7.7600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1836
    Cell Significance Index: -3.9100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2134
    Cell Significance Index: -22.2300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2261
    Cell Significance Index: -16.8500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2374
    Cell Significance Index: -5.1300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2403
    Cell Significance Index: -9.1000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2436
    Cell Significance Index: -5.1700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2548
    Cell Significance Index: -18.0200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2731
    Cell Significance Index: -20.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2739
    Cell Significance Index: -21.6900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2876
    Cell Significance Index: -13.5200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3213
    Cell Significance Index: -21.6100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3370
    Cell Significance Index: -20.6600
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.3412
    Cell Significance Index: -4.4300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3505
    Cell Significance Index: -7.2700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3848
    Cell Significance Index: -6.4400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3962
    Cell Significance Index: -24.9700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3985
    Cell Significance Index: -20.7000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.4413
    Cell Significance Index: -6.6500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.4428
    Cell Significance Index: -3.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4617
    Cell Significance Index: -24.2400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.4807
    Cell Significance Index: -3.9200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.4867
    Cell Significance Index: -6.9700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.5141
    Cell Significance Index: -10.7300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5238
    Cell Significance Index: -17.1500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5306
    Cell Significance Index: -16.9000
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.5367
    Cell Significance Index: -7.6400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5757
    Cell Significance Index: -15.4000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5761
    Cell Significance Index: -21.1500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5790
    Cell Significance Index: -20.2900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5833
    Cell Significance Index: -15.6300
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.5847
    Cell Significance Index: -25.4200
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.6164
    Cell Significance Index: -14.9300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6541
    Cell Significance Index: -22.7300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6546
    Cell Significance Index: -19.2800
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: -0.6782
    Cell Significance Index: -6.0200
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.7398
    Cell Significance Index: -14.5600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.7641
    Cell Significance Index: -11.4500
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.7642
    Cell Significance Index: -12.2600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The KITLG gene is characterized by its ability to interact with the KIT receptor, a tyrosine kinase receptor, to activate signaling cascades that regulate various cellular processes. The KITLG protein is a ligand that binds to the KIT receptor, leading to the activation of downstream signaling pathways that promote cell growth, survival, and migration. The KITLG gene is highly expressed in various tissues, including the hematopoietic system, the nervous system, and the reproductive system. **Pathways and Functions** The KITLG gene is involved in several signaling pathways, including: 1. **Cell adhesion**: KITLG interacts with the KIT receptor to regulate cell adhesion, which is essential for cell migration and tissue development. 2. **Constitutive signaling by aberrant PI3K in cancer**: KITLG can activate the PI3K/AKT signaling pathway, leading to uncontrolled cell growth and proliferation in cancer cells. 3. **Cytokine activity**: KITLG can regulate cytokine production and activity, which is essential for immune responses and tissue development. 4. **Growth factor activity**: KITLG can act as a growth factor, promoting cell proliferation and differentiation. 5. **Hematopoietic progenitor cell differentiation**: KITLG regulates the differentiation of hematopoietic progenitor cells into mature blood cells. **Clinical Significance** The KITLG gene has been implicated in several diseases, including: 1. **Cancer**: Aberrant expression of KITLG has been observed in various types of cancer, including leukemia, lymphoma, and melanoma. 2. **Autoimmune disorders**: KITLG has been implicated in autoimmune disorders, such as mastocytosis and ataxia-telangiectasia. 3. **Developmental abnormalities**: Mutations in the KITLG gene have been associated with developmental abnormalities, such as neural crest cell migration defects. 4. **Neurological disorders**: KITLG has been implicated in neurological disorders, such as autism spectrum disorder and schizophrenia. In conclusion, the KITLG gene plays a critical role in regulating various cellular processes, including cell proliferation, differentiation, migration, and survival. Aberrant expression of KITLG has been implicated in several diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 2520053684

Symbol: SCF_HUMAN

Name: Kit ligand

UniProtKB Accession Codes:

P21583 A0AV09 A8K2Q4 B7ZLM4 Q16487 Q68DZ2 Q7M4N8 Q9UQK7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 15 EMDB 4 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 37 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 8 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 3 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 7 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2208279

Title: Primary structure and functional expression of rat and human stem cell factor DNAs.

PubMed ID: 2208279

DOI: 10.1016/0092-8674(90)90301-t

PubMed ID: 1724381

Title: Alternate splicing of mRNAs encoding human mast cell growth factor and localization of the gene to chromosome 12q22-q24.

PubMed ID: 1724381

PubMed ID: 10049787

Title: Parathyroid hormone-regulated production of stem cell factor in human osteoblasts and osteoblast-like cells.

PubMed ID: 10049787

DOI: 10.1006/bbrc.1999.0260

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1381905

Title: Post-translational processing of membrane-associated recombinant human stem cell factor expressed in Chinese hamster ovary cells.

PubMed ID: 1381905

DOI: 10.1016/0003-9861(92)90106-7

PubMed ID: 1379846

Title: Expression of two types of kit ligand mRNAs in human tumor cells.

PubMed ID: 1379846

PubMed ID: 10582791

Title: Stem cell factor/c-kit system in spermatogenesis.

PubMed ID: 10582791

DOI: 10.1093/humupd/5.5.535

PubMed ID: 15526160

Title: Signal transduction via the stem cell factor receptor/c-Kit.

PubMed ID: 15526160

DOI: 10.1007/s00018-004-4189-6

PubMed ID: 15625120

Title: Normal and oncogenic forms of the receptor tyrosine kinase kit.

PubMed ID: 15625120

DOI: 10.1634/stemcells.2004-0117

PubMed ID: 17952075

Title: Genetic determinants of hair, eye and skin pigmentation in Europeans.

PubMed ID: 17952075

DOI: 10.1038/ng.2007.13

PubMed ID: 24880339

Title: A molecular basis for classic blond hair color in Europeans.

PubMed ID: 24880339

DOI: 10.1038/ng.2991

PubMed ID: 10880433

Title: Structure of the active core of human stem cell factor and analysis of binding to its receptor kit.

PubMed ID: 10880433

DOI: 10.1093/emboj/19.13.3192

PubMed ID: 10884405

Title: Crystal structure of human stem cell factor: implication for stem cell factor receptor dimerization and activation.

PubMed ID: 10884405

DOI: 10.1073/pnas.97.14.7732

PubMed ID: 17662946

Title: Structural basis for activation of the receptor tyrosine kinase KIT by stem cell factor.

PubMed ID: 17662946

DOI: 10.1016/j.cell.2007.05.055

PubMed ID: 19375057

Title: Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.

PubMed ID: 19375057

DOI: 10.1016/j.ajhg.2009.03.019

PubMed ID: 26522471

Title: Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

PubMed ID: 26522471

DOI: 10.1016/j.ajhg.2015.09.011

PubMed ID: 28504826

Title: Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.

PubMed ID: 28504826

DOI: 10.1111/pcmr.12597

PubMed ID: 35543077

Title: Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

PubMed ID: 35543077

DOI: 10.1111/jdv.18207

Sequence Information:

  • Length: 273
  • Mass: 30899
  • Checksum: 19FD362CB59C6607
  • Sequence:
    • MKKTQTWILT CIYLQLLLFN PLVKTEGICR NRVTNNVKDV TKLVANLPKD YMITLKYVPG 
MDVLPSHCWI SEMVVQLSDS LTDLLDKFSN ISEGLSNYSI IDKLVNIVDD LVECVKENSS 
KDLKKSFKSP EPRLFTPEEF FRIFNRSIDA FKDFVVASET SDCVVSSTLS PEKDSRVSVT 
KPFMLPPVAA SSLRNDSSSS NRKAKNPPGD SSLHWAAMAL PALFSLIIGF AFGALYWKKR 
QPSLTRAVEN IQINEEDNEI SMLQEKEREF QEV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.