Gene:
KITLG
KIT ligand

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  familial progressive hyperpigmentation 2; mast cell growth factor; steel factor; stem cell factor
Alternate Symbols:  FPH2; KL-1; Kitl; SCF; SF
PharmGKB Accession Id: PA30129

Details

Cytogenetic Location: chr12 : q22 - q21.32
GP mRNA Boundary: chr12 : 88886570 - 88974250
GP Gene Boundary: chr12 : 88883570 - 88984250
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Glucocorticoid Pathway - Transcription Regulation, Pharmacodynamics
    Model displaying genes which may be involved in the nuclear complex formed that regulates transcription in response to glucocorticoids.

External Pathways

Links to non-PharmGKB pathways.

  1. cdk regulation of dna replication - (BioCarta via Pathway Interaction Database)
  2. melanocyte development and pigmentation pathway - (BioCarta via Pathway Interaction Database)
  3. regulation of bad phosphorylation - (BioCarta via Pathway Interaction Database)
  4. Signaling events mediated by Stem cell factor receptor (c-Kit) - (Pathway Interaction Database NCI-Nature Curated)

Publications related to KITLG: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation. American journal of human genetics. 2009. Wang Zhi-Qiang, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Transcription of stem cell factor (SCF) is potentiated by glucocorticoids and interleukin-1beta through concerted regulation of a GRE-like and an NF-kappaB response element. The FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2003. Da Silva Carla Alexandra, et al. PubMed

LinkOuts

Entrez Gene:
4254
OMIM:
145250
184745
611664
UCSC Genome Browser:
NM_000899
RefSeq RNA:
NM_000899
NM_003994
RefSeq Protein:
NP_000890
NP_003985
RefSeq DNA:
AC_000055
AC_000144
NC_000012
NG_012098
NT_029419
NW_001838061
NW_925395
UniProtKB:
SCF_HUMAN (P21583)
Ensembl:
ENSG00000049130
GenAtlas:
KITLG
GeneCard:
KITLG
MutDB:
KITLG
ALFRED:
LO023437T
HuGE:
KITLG
Comparative Toxicogenomics Database:
4254
ModBase:
P21583
HumanCyc Gene:
HS00611
HGNC:
6343

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