KITLG (KIT ligand) - Rat Genome Database

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Gene: KITLG (KIT ligand) Homo sapiens
Analyze
Symbol: KITLG
Name: KIT ligand
RGD ID: 737118
HGNC Page HGNC:6343
Description: Predicted to enable cytokine activity and stem cell factor receptor binding activity. Involved in embryonic hemopoiesis; male gonad development; and positive regulation of cell population proliferation. Located in several cellular components, including filopodium; lamellipodium; and plasma membrane. Implicated in Waardenburg syndrome; autosomal dominant nonsyndromic deafness 69; familial progressive hyperpigmentation with or without hypopigmentation; and pigmentation disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: c-Kit ligand; DCUA; DFNA69; DKFZp686F2250; familial progressive hyperpigmentation 2; FPH2; FPHH; kit-ligand; Kitl; KL-1; mast cell growth factor; MGF; SCF; SF; SHEP7; SLF; steel factor; stem cell factor; WS2F
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381288,492,793 - 88,580,471 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1288,492,793 - 88,580,851 (-)EnsemblGRCh38hg38GRCh38
GRCh371288,886,570 - 88,974,248 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361287,410,697 - 87,498,369 (-)NCBINCBI36Build 36hg18NCBI36
Build 341287,389,036 - 87,476,706NCBI
Celera1288,556,999 - 88,644,657 (-)NCBICelera
Cytogenetic Map12q21.32NCBI
HuRef1285,953,228 - 86,040,884 (-)NCBIHuRef
CHM1_11288,851,652 - 88,939,322 (-)NCBICHM1_1
T2T-CHM13v2.01288,474,752 - 88,562,405 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-artemisinic acid  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (EXP)
1-chloro-2,4-dinitrobenzene  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-diaminotoluene  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
allethrin  (ISO)
amiodarone  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
ammonium hexachloroplatinate  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
atrazine  (ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzophenanthridine  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
butyric acid  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
ceric oxide  (EXP)
chloroprene  (ISO)
cholesterol  (EXP)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (ISO)
cyclophosphamide  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
daidzein  (EXP)
daidzein 7-O-beta-D-glucoside  (EXP)
daunorubicin  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
erlotinib hydrochloride  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
fumonisin B1  (EXP)
furan  (ISO)
gadodiamide hydrate  (ISO)
gemcitabine  (EXP)
genistein  (EXP)
genistein 7-O-beta-D-glucoside  (EXP)
gentamycin  (ISO)
glycitein  (EXP)
glycitin  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hexamethylene diisocyanate  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP)
letrozole  (ISO)
lipopolysaccharide  (EXP,ISO)
LY294002  (EXP)
melphalan  (EXP)
mercury dibromide  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methylisothiazolinone  (EXP)
microcystin-LR  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methyl-N-nitrosourea  (ISO)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
nitrofen  (ISO)
Nutlin-3  (EXP)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
oxymetholone  (EXP)
ozone  (ISO)
p-menthan-3-ol  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PCB138  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (EXP,ISO)
phencyclidine  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pifithrin-?  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pravastatin  (ISO)
pyrethrins  (ISO)
quercetin  (EXP,ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
silver(1+) nitrate  (EXP)
sirolimus  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
topotecan  (ISO)
torcetrapib  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (EXP,ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
wortmannin  (EXP,ISO)
zaragozic acid A  (ISO)
zearalenone  (EXP)
zinc atom  (EXP)
zinc protoporphyrin  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell projection  (IEA)
cytoplasm  (IDA,IEA)
cytoskeleton  (IEA)
extracellular region  (IEA,TAS)
extracellular space  (IEA)
filopodium  (IDA,IEA)
lamellipodium  (IDA,IEA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,NAS,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Primary structure and functional expression of rat and human stem cell factor DNAs. Martin FH, etal., Cell 1990 Oct 5;63(1):203-11.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Delayed gastric emptying and disruption of the interstitial cells of Cajal network after gastric ischaemia and reperfusion. Suzuki S, etal., Neurogastroenterol Motil. 2010 May;22(5):585-93, e126. doi: 10.1111/j.1365-2982.2009.01444.x. Epub 2009 Dec 23.
8. miR-222 regulates cell growth, apoptosis, and autophagy of interstitial cells of Cajal isolated from slow transit constipation rats by targeting c-kit. Zheng H, etal., Indian J Gastroenterol. 2021 Apr;40(2):198-208. doi: 10.1007/s12664-020-01143-7. Epub 2021 Apr 1.
Additional References at PubMed
PMID:1375232   PMID:1378327   PMID:1379243   PMID:1379846   PMID:1381905   PMID:1383693   PMID:1427906   PMID:1707188   PMID:1724381   PMID:7528592   PMID:7529021   PMID:7545103  
PMID:7680037   PMID:8547494   PMID:8626683   PMID:9113989   PMID:9239726   PMID:9269751   PMID:9371281   PMID:9590652   PMID:9722506   PMID:9889281   PMID:10049787   PMID:10224464  
PMID:10320642   PMID:10880433   PMID:10884405   PMID:10901444   PMID:11124255   PMID:11159541   PMID:11905054   PMID:11920266   PMID:11999217   PMID:12002675   PMID:12062186   PMID:12123753  
PMID:12297464   PMID:12393403   PMID:12393703   PMID:12421569   PMID:12429808   PMID:12445210   PMID:12477932   PMID:12481031   PMID:12556557   PMID:12637332   PMID:12666065   PMID:12753403  
PMID:12829027   PMID:14628073   PMID:14654075   PMID:14662725   PMID:14691917   PMID:14702039   PMID:14985355   PMID:15140230   PMID:15145934   PMID:15217825   PMID:15308671   PMID:15337769  
PMID:15355893   PMID:15378028   PMID:15474101   PMID:15475566   PMID:15489334   PMID:15504546   PMID:15504551   PMID:15526160   PMID:15526978   PMID:15576295   PMID:15728521   PMID:15781331  
PMID:15866728   PMID:16015044   PMID:16181409   PMID:16213778   PMID:16479403   PMID:16616334   PMID:16647379   PMID:16709604   PMID:16780589   PMID:16905672   PMID:17115933   PMID:17175329  
PMID:17191042   PMID:17207965   PMID:17257055   PMID:17289809   PMID:17410437   PMID:17556598   PMID:17662946   PMID:17687495   PMID:17848411   PMID:17855052   PMID:17952075   PMID:18026739  
PMID:18042633   PMID:18083106   PMID:18166170   PMID:18239612   PMID:18339685   PMID:18372228   PMID:18499891   PMID:18602222   PMID:18684968   PMID:18830255   PMID:18834862   PMID:18928604  
PMID:19001805   PMID:19074504   PMID:19196101   PMID:19197368   PMID:19285034   PMID:19342032   PMID:19375057   PMID:19416273   PMID:19480722   PMID:19481739   PMID:19483681   PMID:19483682  
PMID:19492092   PMID:19570824   PMID:19675587   PMID:19897599   PMID:19912360   PMID:19913121   PMID:20028869   PMID:20117079   PMID:20131076   PMID:20237496   PMID:20305142   PMID:20337985  
PMID:20353940   PMID:20384797   PMID:20396801   PMID:20543847   PMID:20596251   PMID:20608808   PMID:20628086   PMID:20857409   PMID:21094786   PMID:21106245   PMID:21149635   PMID:21161069  
PMID:21257825   PMID:21281800   PMID:21320746   PMID:21368769   PMID:21617256   PMID:21636540   PMID:21763396   PMID:21799876   PMID:21873635   PMID:22004924   PMID:22072546   PMID:22140272  
PMID:22194441   PMID:22204707   PMID:22279057   PMID:22349512   PMID:22467521   PMID:22533504   PMID:22833529   PMID:23060556   PMID:23125456   PMID:23185384   PMID:23222517   PMID:23273644  
PMID:23548203   PMID:23662587   PMID:23666239   PMID:23666240   PMID:23680593   PMID:23703692   PMID:23771924   PMID:24083421   PMID:24116170   PMID:24120139   PMID:24449920   PMID:24745671  
PMID:24790137   PMID:24880339   PMID:24897070   PMID:24944064   PMID:24999927   PMID:25061857   PMID:25086759   PMID:25161061   PMID:25213795   PMID:25220285   PMID:25241372   PMID:25241761  
PMID:25401222   PMID:25418470   PMID:25457384   PMID:25514101   PMID:25766327   PMID:25799412   PMID:25962936   PMID:26026391   PMID:26049754   PMID:26177551   PMID:26179221   PMID:26186194  
PMID:26188365   PMID:26522471   PMID:26666817   PMID:26704889   PMID:26791471   PMID:26853551   PMID:26909822   PMID:27762658   PMID:27859606   PMID:28064312   PMID:28153790   PMID:28285567  
PMID:28290616   PMID:28370370   PMID:28456630   PMID:28514442   PMID:28551414   PMID:28714970   PMID:28880927   PMID:28954236   PMID:29112292   PMID:29631773   PMID:29961894   PMID:30021884  
PMID:30091263   PMID:30142893   PMID:30298755   PMID:30388134   PMID:30617299   PMID:31138788   PMID:31530062   PMID:31612386   PMID:31870114   PMID:32189379   PMID:32203862   PMID:32223088  
PMID:32327564   PMID:32336682   PMID:32463597   PMID:32578480   PMID:32736659   PMID:33407466   PMID:33961781   PMID:34450114   PMID:34716665   PMID:35023029   PMID:35543077   PMID:36233032  
PMID:36242590   PMID:37174705   PMID:37759746   PMID:38206705  


Genomics

Comparative Map Data
KITLG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381288,492,793 - 88,580,471 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1288,492,793 - 88,580,851 (-)EnsemblGRCh38hg38GRCh38
GRCh371288,886,570 - 88,974,248 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361287,410,697 - 87,498,369 (-)NCBINCBI36Build 36hg18NCBI36
Build 341287,389,036 - 87,476,706NCBI
Celera1288,556,999 - 88,644,657 (-)NCBICelera
Cytogenetic Map12q21.32NCBI
HuRef1285,953,228 - 86,040,884 (-)NCBIHuRef
CHM1_11288,851,652 - 88,939,322 (-)NCBICHM1_1
T2T-CHM13v2.01288,474,752 - 88,562,405 (-)NCBIT2T-CHM13v2.0
Kitl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391099,851,477 - 99,936,278 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1099,851,492 - 99,936,278 (+)EnsemblGRCm39 Ensembl
GRCm3810100,015,615 - 100,100,416 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10100,015,630 - 100,100,416 (+)EnsemblGRCm38mm10GRCm38
MGSCv371099,478,458 - 99,563,046 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361099,445,512 - 99,530,100 (+)NCBIMGSCv36mm8
Celera10101,983,926 - 102,068,221 (+)NCBICelera
Cytogenetic Map10D1NCBI
cM Map1051.4NCBI
Kitlg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8736,782,621 - 36,863,796 (+)NCBIGRCr8
mRatBN7.2734,896,075 - 34,977,215 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl734,896,053 - 34,977,214 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx736,884,748 - 36,965,896 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0739,066,514 - 39,147,673 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0738,799,729 - 38,880,883 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0742,269,784 - 42,351,054 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl742,269,784 - 42,351,054 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0742,302,651 - 42,383,921 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4737,714,157 - 37,795,722 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1737,734,427 - 37,804,538 (+)NCBI
Celera731,898,840 - 31,979,932 (+)NCBICelera
RH 3.4 Map7286.2RGD
Cytogenetic Map7q21NCBI
Kitlg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540525,886,447 - 25,969,395 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540525,816,137 - 25,969,006 (-)NCBIChiLan1.0ChiLan1.0
KITLG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21096,547,522 - 96,623,042 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11296,527,362 - 96,619,438 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01286,036,501 - 86,124,274 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11289,341,921 - 89,436,081 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1289,341,921 - 89,436,758 (-)Ensemblpanpan1.1panPan2
KITLG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11529,591,068 - 29,671,985 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1529,591,170 - 29,671,974 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1530,041,648 - 30,122,153 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01530,230,533 - 30,311,189 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1530,230,587 - 30,311,541 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11529,545,261 - 29,626,200 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01529,607,389 - 29,688,442 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01529,890,288 - 29,970,909 (-)NCBIUU_Cfam_GSD_1.0
Kitlg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494530,584,662 - 30,669,431 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365075,565,821 - 5,650,828 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365075,566,144 - 5,650,412 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KITLG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl594,017,387 - 94,110,214 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1594,016,992 - 94,110,219 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2598,745,850 - 98,834,052 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KITLG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11183,856,149 - 83,943,095 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1183,856,157 - 83,943,083 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037161,319,600 - 161,407,409 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kitlg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248377,456,120 - 7,541,730 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248377,456,116 - 7,541,764 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KITLG
91 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000012.12:g.88905969C>T single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN [RCV000013660] Chr12:88905969 [GRCh38]
Chr12:89299746 [GRCh37]
Chr12:12q21.33		 pathogenic|association|affects
NC_000012.12:g.88934558T>C single nucleotide variant SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN [RCV000013659] Chr12:88934558 [GRCh38]
Chr12:89328335 [GRCh37]
Chr12:12q21.33		 pathogenic|association|affects
NM_000899.5(KITLG):c.107A>G (p.Asn36Ser) single nucleotide variant Hyperpigmentation with or without hypopigmentation, familial progressive [RCV000013661] Chr12:88545774 [GRCh38]
Chr12:88939551 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_000899.4(KITLG):c.193-4307A>G single nucleotide variant Lung cancer [RCV000097514] Chr12:88523174 [GRCh38]
Chr12:88916951 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.4(KITLG):c.192+5538G>A single nucleotide variant Lung cancer [RCV000097515] Chr12:88526903 [GRCh38]
Chr12:88920680 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.4(KITLG):c.62C>T (p.Pro21Leu) single nucleotide variant Malignant melanoma [RCV000070248] Chr12:88545819 [GRCh38]
Chr12:88939596 [GRCh37]
Chr12:87463727 [NCBI36]
Chr12:12q21.32		 not provided
NM_000899.5(KITLG):c.343G>A (p.Val115Met) single nucleotide variant not provided [RCV000657999] Chr12:88518717 [GRCh38]
Chr12:88912494 [GRCh37]
Chr12:12q21.32		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 copy number loss See cases [RCV000143099] Chr12:73485697..92795805 [GRCh38]
Chr12:73879477..93189581 [GRCh37]
Chr12:72165744..91713712 [NCBI36]
Chr12:12q21.1-22		 pathogenic
NM_000899.5(KITLG):c.310C>G (p.Leu104Val) single nucleotide variant not provided [RCV000203232] Chr12:88518750 [GRCh38]
Chr12:88912527 [GRCh37]
Chr12:12q21.32		 likely pathogenic|uncertain significance
NM_000899.5(KITLG):c.286_303delinsT (p.Leu95_Ser96insTer) indel Autosomal dominant nonsyndromic hearing loss 69 [RCV000203239] Chr12:88518757..88518774 [GRCh38]
Chr12:88912534..88912551 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_000899.5(KITLG):c.200_202del (p.His67_Cys68delinsArg) deletion Autosomal dominant nonsyndromic hearing loss 69 [RCV000203244] Chr12:88518858..88518860 [GRCh38]
Chr12:88912635..88912637 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_000899.5(KITLG):c.98T>C (p.Val33Ala) single nucleotide variant Hyperpigmentation with or without hypopigmentation, familial progressive [RCV000162036] Chr12:88545783 [GRCh38]
Chr12:88939560 [GRCh37]
Chr12:12q21.32		 pathogenic|not provided
NM_000899.5(KITLG):c.100A>C (p.Thr34Pro) single nucleotide variant Hyperpigmentation with or without hypopigmentation, familial progressive [RCV000162037] Chr12:88545781 [GRCh38]
Chr12:88939558 [GRCh37]
Chr12:12q21.32		 pathogenic|not provided
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_000899.5(KITLG):c.130-11dup duplication Hyperpigmentation with or without hypopigmentation, familial progressive [RCV002491302]|not provided [RCV001683605]|not specified [RCV000600149] Chr12:88532513..88532514 [GRCh38]
Chr12:88926291 [GRCh37]
Chr12:12q21.32		 benign|likely benign
NM_000899.5(KITLG):c.178G>A (p.Gly60Arg) single nucleotide variant not provided [RCV000522442] Chr12:88532455 [GRCh38]
Chr12:88926232 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.714+24T>A single nucleotide variant not provided [RCV001566276] Chr12:88507004 [GRCh38]
Chr12:88900781 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.108T>A (p.Asn36Lys) single nucleotide variant not provided [RCV000445155] Chr12:88545773 [GRCh38]
Chr12:88939550 [GRCh37]
Chr12:12q21.32		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_000899.5(KITLG):c.628G>T (p.Asp210Tyr) single nucleotide variant not provided [RCV002063048]|not specified [RCV000602827] Chr12:88507114 [GRCh38]
Chr12:88900891 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.-16A>C single nucleotide variant not specified [RCV000615087] Chr12:88580294 [GRCh38]
Chr12:88974071 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.177C>T (p.Pro59=) single nucleotide variant not provided [RCV000958408]|not specified [RCV000610940] Chr12:88532456 [GRCh38]
Chr12:88926233 [GRCh37]
Chr12:12q21.32		 benign|likely benign
GRCh37/hg19 12q21.32(chr12:88904063-88996837)x1 copy number loss not provided [RCV000683392] Chr12:88904063..88996837 [GRCh37]
Chr12:12q21.32		 uncertain significance
GRCh37/hg19 12q21.32-21.33(chr12:87654236-91893923)x1 copy number loss not provided [RCV000683472] Chr12:87654236..91893923 [GRCh37]
Chr12:12q21.32-21.33		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33		 pathogenic
GRCh37/hg19 12q21.32(chr12:88387608-88993471)x3 copy number gain not provided [RCV000737985] Chr12:88387608..88993471 [GRCh37]
Chr12:12q21.32		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q21.32-21.33(chr12:88866748-89051634)x3 copy number gain not provided [RCV000750517] Chr12:88866748..89051634 [GRCh37]
Chr12:12q21.32-21.33		 benign
NM_000899.5(KITLG):c.130-11del deletion not provided [RCV001678822] Chr12:88532514 [GRCh38]
Chr12:88926291 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.521-6A>G single nucleotide variant not provided [RCV000901413] Chr12:88515623 [GRCh38]
Chr12:88909400 [GRCh37]
Chr12:12q21.32		 benign
GRCh37/hg19 12q21.32-21.33(chr12:87296336-90301051)x1 copy number loss not provided [RCV000856657] Chr12:87296336..90301051 [GRCh37]
Chr12:12q21.32-21.33		 likely pathogenic|uncertain significance
NC_000012.12:g.(?_88516334)_(89591295_?)del deletion not provided [RCV001033711] Chr12:88910111..89985072 [GRCh37]
Chr12:12q21.32-21.33		 pathogenic|uncertain significance
NM_000899.5(KITLG):c.160A>G (p.Thr54Ala) single nucleotide variant KITLG-related condition [RCV003910755]|not provided [RCV000901278] Chr12:88532473 [GRCh38]
Chr12:88926250 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.723G>A (p.Gln241=) single nucleotide variant not provided [RCV000881766] Chr12:88506370 [GRCh38]
Chr12:88900147 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.130-10G>T single nucleotide variant not provided [RCV000843136] Chr12:88532513 [GRCh38]
Chr12:88926290 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.15+2T>A single nucleotide variant not specified [RCV000825034] Chr12:88580262 [GRCh38]
Chr12:88974039 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.213C>T (p.Ser71=) single nucleotide variant not provided [RCV000953465]|not specified [RCV000825072] Chr12:88518847 [GRCh38]
Chr12:88912624 [GRCh37]
Chr12:12q21.32		 benign
GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1 copy number loss not provided [RCV000848027] Chr12:77737623..94330526 [GRCh37]
Chr12:12q21.2-22		 pathogenic
NM_000899.5(KITLG):c.16-119T>A single nucleotide variant not provided [RCV001544555] Chr12:88545984 [GRCh38]
Chr12:88939761 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.470C>T (p.Ala157Val) single nucleotide variant not provided [RCV000994958] Chr12:88516384 [GRCh38]
Chr12:88910161 [GRCh37]
Chr12:12q21.32		 likely benign|uncertain significance
NM_000899.5(KITLG):c.708C>T (p.Tyr236=) single nucleotide variant not provided [RCV003770194]|not specified [RCV001195328] Chr12:88507034 [GRCh38]
Chr12:88900811 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.715-2A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 69 [RCV003231747]|not provided [RCV003231746] Chr12:88506380 [GRCh38]
Chr12:88900157 [GRCh37]
Chr12:12q21.32		 likely pathogenic|uncertain significance
NM_000899.5(KITLG):c.15+6T>C single nucleotide variant Waardenburg syndrome, IIa 2F [RCV003232050] Chr12:88580258 [GRCh38]
Chr12:88974035 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.129+21C>T single nucleotide variant not provided [RCV001593431] Chr12:88545731 [GRCh38]
Chr12:88939508 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.604+133T>G single nucleotide variant not provided [RCV001556860] Chr12:88515401 [GRCh38]
Chr12:88909178 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.129+22G>A single nucleotide variant not provided [RCV001616782] Chr12:88545730 [GRCh38]
Chr12:88939507 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.15+279C>A single nucleotide variant not provided [RCV001558941] Chr12:88579985 [GRCh38]
Chr12:88973762 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.363+16T>A single nucleotide variant not provided [RCV001637143] Chr12:88518681 [GRCh38]
Chr12:88912458 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.121A>C (p.Thr41Pro) single nucleotide variant not provided [RCV001558082] Chr12:88545760 [GRCh38]
Chr12:88939537 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.192+245A>G single nucleotide variant not provided [RCV001676361] Chr12:88532196 [GRCh38]
Chr12:88925973 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.364-40G>A single nucleotide variant not provided [RCV001597615] Chr12:88516530 [GRCh38]
Chr12:88910307 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.130-22A>T single nucleotide variant not provided [RCV001641513] Chr12:88532525 [GRCh38]
Chr12:88926302 [GRCh37]
Chr12:12q21.32		 benign
NC_000012.12:g.(?_87983103)_(88507137_?)del deletion Familial aplasia of the vermis [RCV001033710] Chr12:88376880..88900914 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_000899.5(KITLG):c.16-148A>G single nucleotide variant not provided [RCV001678605] Chr12:88546013 [GRCh38]
Chr12:88939790 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.16-137G>A single nucleotide variant not provided [RCV001665910] Chr12:88546002 [GRCh38]
Chr12:88939779 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.783-41T>A single nucleotide variant not provided [RCV001583502] Chr12:88505276 [GRCh38]
Chr12:88899053 [GRCh37]
Chr12:12q21.32		 likely benign
NC_000012.12:g.88580488C>A single nucleotide variant not provided [RCV001614820] Chr12:88580488 [GRCh38]
Chr12:88974265 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.255G>C (p.Leu85=) single nucleotide variant not specified [RCV001195329] Chr12:88518805 [GRCh38]
Chr12:88912582 [GRCh37]
Chr12:12q21.32		 likely benign
NC_000012.11:g.(?_88910111)_(89985072_?)del deletion not provided [RCV001305883] Chr12:88910111..89985072 [GRCh37]
Chr12:12q21.32-21.33		 uncertain significance
NM_000899.5(KITLG):c.715-91C>A single nucleotide variant not provided [RCV001698832] Chr12:88506469 [GRCh38]
Chr12:88900246 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.364-203C>A single nucleotide variant not provided [RCV001685652] Chr12:88516693 [GRCh38]
Chr12:88910470 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.192+146G>A single nucleotide variant not provided [RCV001716457] Chr12:88532295 [GRCh38]
Chr12:88926072 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.193-44A>G single nucleotide variant not provided [RCV001774935] Chr12:88518911 [GRCh38]
Chr12:88912688 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.58A>T (p.Asn20Tyr) single nucleotide variant not provided [RCV001757529] Chr12:88545823 [GRCh38]
Chr12:88939600 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.680T>C (p.Ile227Thr) single nucleotide variant not provided [RCV001786023] Chr12:88507062 [GRCh38]
Chr12:88900839 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.9G>A (p.Lys3=) single nucleotide variant not provided [RCV001753379] Chr12:88580270 [GRCh38]
Chr12:88974047 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.629A>G (p.Asp210Gly) single nucleotide variant Inborn genetic diseases [RCV002544291]|not provided [RCV001786017] Chr12:88507113 [GRCh38]
Chr12:88900890 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.281G>C (p.Gly94Ala) single nucleotide variant not provided [RCV001776507] Chr12:88518779 [GRCh38]
Chr12:88912556 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.16-138C>A single nucleotide variant not provided [RCV001779563] Chr12:88546003 [GRCh38]
Chr12:88939780 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.519A>G (p.Lys173=) single nucleotide variant not provided [RCV001929334] Chr12:88516335 [GRCh38]
Chr12:88910112 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.386G>C (p.Ser129Thr) single nucleotide variant not provided [RCV001985344] Chr12:88516468 [GRCh38]
Chr12:88910245 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.588C>G (p.Asp196Glu) single nucleotide variant not provided [RCV001979079] Chr12:88515550 [GRCh38]
Chr12:88909327 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.226C>G (p.Gln76Glu) single nucleotide variant not provided [RCV001935350] Chr12:88518834 [GRCh38]
Chr12:88912611 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.509G>A (p.Ser170Asn) single nucleotide variant not provided [RCV001931663] Chr12:88516345 [GRCh38]
Chr12:88910122 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.49C>T (p.Leu17Phe) single nucleotide variant not provided [RCV002034160] Chr12:88545832 [GRCh38]
Chr12:88939609 [GRCh37]
Chr12:12q21.32		 uncertain significance
NC_000012.11:g.(?_88442961)_(89919672_?)dup duplication not provided [RCV002048337] Chr12:88442961..89919672 [GRCh37]
Chr12:12q21.32-21.33		 uncertain significance
NM_000899.5(KITLG):c.129+14G>C single nucleotide variant not provided [RCV002209495] Chr12:88545738 [GRCh38]
Chr12:88939515 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.783-15C>A single nucleotide variant not provided [RCV002154413] Chr12:88505250 [GRCh38]
Chr12:88899027 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.806_807del (p.Glu269fs) microsatellite not provided [RCV003115373] Chr12:88505211..88505212 [GRCh38]
Chr12:88898988..88898989 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.94C>T (p.Arg32Cys) single nucleotide variant Waardenburg syndrome, IIa 2F [RCV002260949] Chr12:88545787 [GRCh38]
Chr12:88939564 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_000899.5(KITLG):c.443T>C (p.Ile148Thr) single nucleotide variant Waardenburg syndrome, IIa 2F [RCV002260950] Chr12:88516411 [GRCh38]
Chr12:88910188 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_000899.5(KITLG):c.320T>A (p.Ile107Lys) single nucleotide variant Hyperpigmentation with or without hypopigmentation, familial progressive [RCV002287272] Chr12:88518740 [GRCh38]
Chr12:88912517 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.550_551del (p.Met184fs) deletion Waardenburg syndrome, IIa 2F [RCV002260951] Chr12:88515587..88515588 [GRCh38]
Chr12:88909364..88909365 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_000899.5(KITLG):c.108T>G (p.Asn36Lys) single nucleotide variant Hyperpigmentation with or without hypopigmentation, familial progressive [RCV002291093] Chr12:88545773 [GRCh38]
Chr12:88939550 [GRCh37]
Chr12:12q21.32		 pathogenic
NM_000899.5(KITLG):c.2T>A (p.Met1Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 69 [RCV002283908] Chr12:88580277 [GRCh38]
Chr12:88974054 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.106A>C (p.Asn36His) single nucleotide variant Hyperpigmentation with or without hypopigmentation, familial progressive [RCV002468729] Chr12:88545775 [GRCh38]
Chr12:88939552 [GRCh37]
Chr12:12q21.32		 likely pathogenic
NM_000899.5(KITLG):c.706T>C (p.Tyr236His) single nucleotide variant not provided [RCV002794927] Chr12:88507036 [GRCh38]
Chr12:88900813 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.103A>G (p.Asn35Asp) single nucleotide variant not provided [RCV002690558] Chr12:88545778 [GRCh38]
Chr12:88939555 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.364-1G>A single nucleotide variant not provided [RCV002791486] Chr12:88516491 [GRCh38]
Chr12:88910268 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.319A>G (p.Ile107Val) single nucleotide variant Inborn genetic diseases [RCV002916223] Chr12:88518741 [GRCh38]
Chr12:88912518 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.429T>C (p.Ile143=) single nucleotide variant not provided [RCV002700948] Chr12:88516425 [GRCh38]
Chr12:88910202 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.573C>T (p.Ser191=) single nucleotide variant not provided [RCV003082321] Chr12:88515565 [GRCh38]
Chr12:88909342 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.339G>T (p.Glu113Asp) single nucleotide variant not provided [RCV002832993] Chr12:88518721 [GRCh38]
Chr12:88912498 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.783-16dup duplication not provided [RCV002580588] Chr12:88505250..88505251 [GRCh38]
Chr12:88899027..88899028 [GRCh37]
Chr12:12q21.32		 benign
NM_000899.5(KITLG):c.66C>T (p.Leu22=) single nucleotide variant not provided [RCV002633542] Chr12:88545815 [GRCh38]
Chr12:88939592 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.67G>A (p.Val23Ile) single nucleotide variant not provided [RCV003229223] Chr12:88545814 [GRCh38]
Chr12:88939591 [GRCh37]
Chr12:12q21.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000899.5(KITLG):c.376T>A (p.Ser126Thr) single nucleotide variant Inborn genetic diseases [RCV003195445] Chr12:88516478 [GRCh38]
Chr12:88910255 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.151_153del (p.Tyr51del) deletion not provided [RCV003565644]|not specified [RCV003324405] Chr12:88532480..88532482 [GRCh38]
Chr12:88926257..88926259 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.16-2A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 69 [RCV003335840] Chr12:88545867 [GRCh38]
Chr12:88939644 [GRCh37]
Chr12:12q21.32		 likely pathogenic
NM_000899.5(KITLG):c.63T>A (p.Pro21=) single nucleotide variant not provided [RCV003332785] Chr12:88545818 [GRCh38]
Chr12:88939595 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.632C>T (p.Ser211Phe) single nucleotide variant not provided [RCV003482078] Chr12:88507110 [GRCh38]
Chr12:88900887 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.797_798del (p.Lys266fs) deletion not provided [RCV003570086] Chr12:88505220..88505221 [GRCh38]
Chr12:88898997..88898998 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.193-1G>A single nucleotide variant not provided [RCV003570289] Chr12:88518868 [GRCh38]
Chr12:88912645 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.333del (p.Val112fs) deletion not provided [RCV003571381] Chr12:88518727 [GRCh38]
Chr12:88912504 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.365A>G (p.Asp122Gly) single nucleotide variant KITLG-related condition [RCV003402954]|not provided [RCV003732586] Chr12:88516489 [GRCh38]
Chr12:88910266 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.424A>T (p.Arg142Ter) single nucleotide variant not provided [RCV003576532] Chr12:88516430 [GRCh38]
Chr12:88910207 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.639A>T (p.Leu213=) single nucleotide variant not provided [RCV003663307] Chr12:88507103 [GRCh38]
Chr12:88900880 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.388C>T (p.Pro130Ser) single nucleotide variant not provided [RCV003662388] Chr12:88516466 [GRCh38]
Chr12:88910243 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.364-8T>C single nucleotide variant not provided [RCV003875951] Chr12:88516498 [GRCh38]
Chr12:88910275 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.699A>G (p.Gly233=) single nucleotide variant not provided [RCV003725449] Chr12:88507043 [GRCh38]
Chr12:88900820 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.193-16T>G single nucleotide variant not provided [RCV003663888] Chr12:88518883 [GRCh38]
Chr12:88912660 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.193-11A>T single nucleotide variant not provided [RCV003859637] Chr12:88518878 [GRCh38]
Chr12:88912655 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.15+8G>C single nucleotide variant not provided [RCV003557426] Chr12:88580256 [GRCh38]
Chr12:88974033 [GRCh37]
Chr12:12q21.32		 likely benign
GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1 copy number loss not specified [RCV003986972] Chr12:74887087..90469800 [GRCh37]
Chr12:12q21.1-21.33		 pathogenic
NM_000899.5(KITLG):c.375dup (p.Ser126fs) duplication KITLG-related condition [RCV003982668] Chr12:88516478..88516479 [GRCh38]
Chr12:88910255..88910256 [GRCh37]
Chr12:12q21.32		 uncertain significance
NM_000899.5(KITLG):c.639A>G (p.Leu213=) single nucleotide variant KITLG-related condition [RCV003964559] Chr12:88507103 [GRCh38]
Chr12:88900880 [GRCh37]
Chr12:12q21.32		 likely benign
NM_000899.5(KITLG):c.547T>C (p.Phe183Leu) single nucleotide variant KITLG-related condition [RCV003909333] Chr12:88515591 [GRCh38]
Chr12:88909368 [GRCh37]
Chr12:12q21.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:680
Count of miRNA genes:306
Interacting mature miRNAs:331
Transcripts:ENST00000228280, ENST00000347404, ENST00000357116, ENST00000378535, ENST00000552044
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D12S1453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371288,968,912 - 88,969,041UniSTSGRCh37
Build 361287,493,043 - 87,493,172RGDNCBI36
Celera1288,639,321 - 88,639,450RGD
Cytogenetic Map12q22UniSTS
HuRef1286,035,548 - 86,035,677UniSTS
Whitehead-YAC Contig Map12 UniSTS
K-F2_K-R2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371288,912,474 - 88,912,644UniSTSGRCh37
Build 361287,436,605 - 87,436,775RGDNCBI36
Celera1288,582,904 - 88,583,074RGD
Cytogenetic Map12q22UniSTS
HuRef1285,979,133 - 85,979,303UniSTS
Whitehead-RH Map12444.2UniSTS
RH17708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371288,890,714 - 88,890,897UniSTSGRCh37
Build 361287,414,845 - 87,415,028RGDNCBI36
Celera1288,561,143 - 88,561,326RGD
Cytogenetic Map12q22UniSTS
HuRef1285,957,372 - 85,957,555UniSTS
GeneMap99-GB4 RH Map12346.64UniSTS
NCBI RH Map12593.5UniSTS
RH11244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371288,886,797 - 88,886,897UniSTSGRCh37
Build 361287,410,928 - 87,411,028RGDNCBI36
Celera1288,557,226 - 88,557,326RGD
Cytogenetic Map12q22UniSTS
HuRef1285,953,455 - 85,953,555UniSTS
GeneMap99-GB4 RH Map12349.33UniSTS
MGF  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371288,909,325 - 88,910,193UniSTSGRCh37
Celera1288,579,755 - 88,580,623UniSTS
HuRef1285,975,984 - 85,976,852UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2060 401 319 163 110 40 1516 912 827 294 631 1104 138 1 795 832 3 2
Low 376 1836 1311 376 496 340 2831 1263 2843 122 820 501 37 409 1950 1
Below cutoff 1 664 92 85 948 85 10 17 61 3 8 6 6 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC024941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF119835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF400437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX474960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC320486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S42571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S45983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S45995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000347404   ⟹   ENSP00000054216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,492,793 - 88,580,851 (-)Ensembl
RefSeq Acc Id: ENST00000357116   ⟹   ENSP00000474021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,497,080 - 88,580,471 (-)Ensembl
RefSeq Acc Id: ENST00000378535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,492,793 - 88,534,762 (-)Ensembl
RefSeq Acc Id: ENST00000552044   ⟹   ENSP00000475042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,518,833 - 88,580,469 (-)Ensembl
RefSeq Acc Id: ENST00000644744   ⟹   ENSP00000495951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,492,793 - 88,580,471 (-)Ensembl
RefSeq Acc Id: ENST00000646633   ⟹   ENSP00000494139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1288,494,471 - 88,580,301 (-)Ensembl
RefSeq Acc Id: NM_000899   ⟹   NP_000890
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381288,492,793 - 88,580,471 (-)NCBI
GRCh371288,886,570 - 88,974,250 (-)ENTREZGENE
Build 361287,410,697 - 87,498,369 (-)NCBI Archive
HuRef1285,953,228 - 86,040,884 (-)ENTREZGENE
CHM1_11288,851,652 - 88,939,322 (-)NCBI
T2T-CHM13v2.01288,474,752 - 88,562,405 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003994   ⟹   NP_003985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381288,492,793 - 88,580,471 (-)NCBI
GRCh371288,886,570 - 88,974,250 (-)ENTREZGENE
Build 361287,410,697 - 87,498,369 (-)NCBI Archive
HuRef1285,953,228 - 86,040,884 (-)ENTREZGENE
CHM1_11288,851,652 - 88,939,322 (-)NCBI
T2T-CHM13v2.01288,474,752 - 88,562,405 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000890 (Get FASTA)   NCBI Sequence Viewer  
  NP_003985 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA85450 (Get FASTA)   NCBI Sequence Viewer  
  AAB22846 (Get FASTA)   NCBI Sequence Viewer  
  AAB23572 (Get FASTA)   NCBI Sequence Viewer  
  AAB23573 (Get FASTA)   NCBI Sequence Viewer  
  AAB35922 (Get FASTA)   NCBI Sequence Viewer  
  AAB39247 (Get FASTA)   NCBI Sequence Viewer  
  AAD22048 (Get FASTA)   NCBI Sequence Viewer  
  AAH69733 (Get FASTA)   NCBI Sequence Viewer  
  AAH69783 (Get FASTA)   NCBI Sequence Viewer  
  AAH69797 (Get FASTA)   NCBI Sequence Viewer  
  AAH74725 (Get FASTA)   NCBI Sequence Viewer  
  AAI26167 (Get FASTA)   NCBI Sequence Viewer  
  AAI43900 (Get FASTA)   NCBI Sequence Viewer  
  AAK92485 (Get FASTA)   NCBI Sequence Viewer  
  AAK92486 (Get FASTA)   NCBI Sequence Viewer  
  BAF83008 (Get FASTA)   NCBI Sequence Viewer  
  BAF85691 (Get FASTA)   NCBI Sequence Viewer  
  CAH18078 (Get FASTA)   NCBI Sequence Viewer  
  EAW97416 (Get FASTA)   NCBI Sequence Viewer  
  EAW97417 (Get FASTA)   NCBI Sequence Viewer  
  EAW97418 (Get FASTA)   NCBI Sequence Viewer  
  EAW97419 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000054216
  ENSP00000054216.5
  ENSP00000474021.1
  ENSP00000475042.1
  ENSP00000494139.1
  ENSP00000495951
  ENSP00000495951.1
GenBank Protein P21583 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_003985   ⟸   NM_003994
- Peptide Label: isoform a precursor
- Sequence:
RefSeq Acc Id: NP_000890   ⟸   NM_000899
- Peptide Label: isoform b precursor
- UniProtKB: Q7M4N8 (UniProtKB/Swiss-Prot),   Q68DZ2 (UniProtKB/Swiss-Prot),   Q16487 (UniProtKB/Swiss-Prot),   B7ZLM4 (UniProtKB/Swiss-Prot),   A8K2Q4 (UniProtKB/Swiss-Prot),   A0AV09 (UniProtKB/Swiss-Prot),   Q9UQK7 (UniProtKB/Swiss-Prot),   P21583 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000054216   ⟸   ENST00000347404
RefSeq Acc Id: ENSP00000495951   ⟸   ENST00000644744
RefSeq Acc Id: ENSP00000475042   ⟸   ENST00000552044
RefSeq Acc Id: ENSP00000474021   ⟸   ENST00000357116
RefSeq Acc Id: ENSP00000494139   ⟸   ENST00000646633

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P21583-F1-model_v2 AlphaFold P21583 1-273 view protein structure

Promoters
RGD ID:6789901
Promoter ID:HG_KWN:16287
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000228280,   ENST00000347404
Position:
Human AssemblyChrPosition (strand)Source
Build 361287,498,086 - 87,498,586 (-)MPROMDB
RGD ID:7224965
Promoter ID:EPDNEW_H18228
Type:initiation region
Name:KITLG_1
Description:KIT ligand
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381288,580,471 - 88,580,531EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6343 AgrOrtholog
COSMIC KITLG COSMIC
Ensembl Genes ENSG00000049130 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000347404 ENTREZGENE
  ENST00000347404.10 UniProtKB/Swiss-Prot
  ENST00000357116.4 UniProtKB/TrEMBL
  ENST00000552044.1 UniProtKB/TrEMBL
  ENST00000644744 ENTREZGENE
  ENST00000644744.1 UniProtKB/Swiss-Prot
  ENST00000646633.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000049130 GTEx
HGNC ID HGNC:6343 ENTREZGENE
Human Proteome Map KITLG Human Proteome Map
InterPro 4_helix_cytokine-like_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4254 UniProtKB/Swiss-Prot
NCBI Gene 4254 ENTREZGENE
OMIM 184745 OMIM
PANTHER KIT LIGAND UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11574 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SCF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30129 PharmGKB
PIRSF SCF UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47266 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y515_HUMAN UniProtKB/TrEMBL
  A0AV09 ENTREZGENE
  A8K2Q4 ENTREZGENE
  B7ZLM4 ENTREZGENE
  P21583 ENTREZGENE
  Q16487 ENTREZGENE
  Q68DZ2 ENTREZGENE
  Q7M4N8 ENTREZGENE
  Q9UQK7 ENTREZGENE
  S4R384_HUMAN UniProtKB/TrEMBL
  S4R442_HUMAN UniProtKB/TrEMBL
  SCF_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0AV09 UniProtKB/Swiss-Prot
  A8K2Q4 UniProtKB/Swiss-Prot
  B7ZLM4 UniProtKB/Swiss-Prot
  Q16487 UniProtKB/Swiss-Prot
  Q68DZ2 UniProtKB/Swiss-Prot
  Q7M4N8 UniProtKB/Swiss-Prot
  Q9UQK7 UniProtKB/Swiss-Prot