Summary ?
GeneID3815
SymbolKIT
SynonymsC-Kit|CD117|PBT|SCFR
DescriptionKIT proto-oncogene receptor tyrosine kinase
ReferenceMIM:164920|HGNC:HGNC:6342|Ensembl:ENSG00000157404|HPRD:01287|Vega:OTTHUMG00000128713
Gene typeprotein-coding
Map location4q12
Pascal p-value0.193
Sherlock p-value0.084
Fetal beta0.797
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0486 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs17199431chr2225810942KIT38150.17trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
IPO70.960.96
UBE3A0.950.95
CSNK1G30.950.95
CAND10.950.96
ATF20.950.96
ARMC10.950.95
CUL4B0.950.95
ABCE10.940.94
FYTTD10.940.94
NUDT210.940.95
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MT-CO2-0.76-0.81
AF347015.31-0.75-0.80
FXYD1-0.74-0.81
AF347015.8-0.73-0.80
MT-CYB-0.73-0.78
HIGD1B-0.73-0.79
AF347015.33-0.73-0.78
AF347015.21-0.72-0.80
AF347015.27-0.72-0.78
IFI27-0.71-0.78

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0005021vascular endothelial growth factor receptor activityIEA-
GO:0004872receptor activityIEA-
GO:0004716receptor signaling protein tyrosine kinase activityTAS9438854 
GO:0005020stem cell factor receptor activityIEA-
GO:0005515protein bindingIEA-
GO:0005515protein bindingIPI17662946 
GO:0005524ATP bindingIEA-
GO:0016740transferase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007169transmembrane receptor protein tyrosine kinase signaling pathwayIEA-
GO:0007243protein kinase cascadeIEA-
GO:0007165signal transductionTAS9990072 
GO:0008284positive regulation of cell proliferationIEA-
GO:0048066pigmentation during developmentIEA-
GO:0009314response to radiationIEA-
GO:0018108peptidyl-tyrosine phosphorylationIEA-
GO:0019221cytokine-mediated signaling pathwayIEA-
GO:0043406positive regulation of MAP kinase activityIEA-
GO:0030097hemopoiesisIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005634nucleusIDA18029348 
GO:0005737cytoplasmIDA18029348 
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-
GO:0009897external side of plasma membraneIEA-
GO:0005886plasma membraneIDA18029348 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
BCRALL | BCR-ABL1 | BCR1 | CML | D22S11 | D22S662 | FLJ16453 | PHLbreakpoint cluster regionAffinity Capture-WesternBioGRID8757502 
CBLBDKFZp686J10223 | DKFZp779A0729 | DKFZp779F1443 | FLJ36865 | FLJ41152 | Nbla00127 | RNF56Cas-Br-M (murine) ecotropic retroviral transforming sequence bAffinity Capture-WesternBioGRID12177062 
CD63LAMP-3 | ME491 | MLA1 | OMA81H | TSPAN30CD63 molecule-HPRD,BioGRID12036870 
CD81S5.7 | TAPA1 | TSPAN28CD81 molecule-HPRD,BioGRID12036870 
CD95H9 | BA2 | BTCC-1 | DRAP-27 | GIG2 | MIC3 | MRP-1 | P24 | TSPAN29CD9 molecule-HPRD,BioGRID12036870 
CLTCCHC | CHC17 | CLH-17 | CLTCL2 | Hc | KIAA0034clathrin, heavy chain (Hc)-HPRD,BioGRID10477727 
CRKL-v-crk sarcoma virus CT10 oncogene homolog (avian)-like-HPRD,BioGRID9092574 
DOK1MGC117395 | MGC138860 | P62DOKdocking protein 1, 62kDa (downstream of tyrosine kinase 1)-HPRD,BioGRID11825908 
EPORMGC138358erythropoietin receptor-HPRD11124255 
GRAPMGC64880GRB2-related adaptor protein-HPRD,BioGRID8647802 
GRAP2GADS | GRAP-2 | GRB2L | GRBLG | GRID | GRPL | GrbX | Grf40 | Mona | P38GRB2-related adaptor protein 2-HPRD9872323 
GRB10GRB-IR | Grb-10 | IRBP | KIAA0207 | MEG1 | RSSgrowth factor receptor-bound protein 10-HPRD,BioGRID11809791 
GRB2ASH | EGFRBP-GRB2 | Grb3-3 | MST084 | MSTP084growth factor receptor-bound protein 2Kit interacts with Grb2. This interaction was modeled on a demonstrated interaction between mouse proteins.BIND10022833 
GRB2ASH | EGFRBP-GRB2 | Grb3-3 | MST084 | MSTP084growth factor receptor-bound protein 2Grb2 interacts with c-Kit upon stimulation with SLF. This interaction was modeled on a demonstrated interaction between mouse Grb2 and human c-Kit.BIND7523381 
GRB2ASH | EGFRBP-GRB2 | Grb3-3 | MST084 | MSTP084growth factor receptor-bound protein 2-HPRD,BioGRID10377264 
GRB7-growth factor receptor-bound protein 7-HPRD,BioGRID10377264 
INPP5DMGC104855 | MGC142140 | MGC142142 | SHIP | SHIP1 | SIP-145 | hp51CNinositol polyphosphate-5-phosphatase, 145kDaReconstituted ComplexBioGRID11071635 
JAK2JTK10Janus kinase 2 (a protein tyrosine kinase)-HPRD,BioGRID7527392 |8611693 
|9355737 
KITLGDKFZp686F2250 | KL-1 | Kitl | MGF | SCF | SF | SHEP7KIT ligand-HPRD1375232|7680037 
KITLGDKFZp686F2250 | KL-1 | Kitl | MGF | SCF | SF | SHEP7KIT ligandAffinity Capture-Western
Reconstituted Complex
BioGRID1375232 |7680037 
LCKYT16 | p56lck | pp58lcklymphocyte-specific protein tyrosine kinase-HPRD,BioGRID9788619 
LYNFLJ26625 | JTK8v-yes-1 Yamaguchi sarcoma viral related oncogene homologc-Kit interacts with p53Lyn.BIND9341198 
LYNFLJ26625 | JTK8v-yes-1 Yamaguchi sarcoma viral related oncogene homolog-HPRD,BioGRID9341198 
LYNFLJ26625 | JTK8v-yes-1 Yamaguchi sarcoma viral related oncogene homologc-Kit interacts with p56Lyn.BIND9341198 
MATKCHK | CTK | DKFZp434N1212 | HHYLTK | HYL | HYLTK | Lsk | MGC1708 | MGC2101megakaryocyte-associated tyrosine kinase-HPRD,BioGRID7536744 |9038210 
MPDZDKFZp781P216 | FLJ25909 | FLJ34626 | FLJ90240 | MUPP1multiple PDZ domain proteinReconstituted Complex
Two-hybrid
BioGRID11018522 
PIK3R1GRB1 | p85 | p85-ALPHAphosphoinositide-3-kinase, regulatory subunit 1 (alpha)Kit interacts with p85-alpha. This interaction was modeled on a demonstrated interaction between mouse proteinsBIND10022833 
PIK3R1GRB1 | p85 | p85-ALPHAphosphoinositide-3-kinase, regulatory subunit 1 (alpha)-HPRD,BioGRID7509796 
PIK3R2P85B | p85 | p85-BETAphosphoinositide-3-kinase, regulatory subunit 2 (beta)Kit interacts with p85-beta. This interaction was modeled on a demonstrated interaction between mouse proteins.BIND10022833 
PIK3R2P85B | p85 | p85-BETAphosphoinositide-3-kinase, regulatory subunit 2 (beta)Two-hybridBioGRID10022833 
PIK3R2P85B | p85 | p85-BETAphosphoinositide-3-kinase, regulatory subunit 2 (beta)-HPRD7537096 
PLCG1PLC-II | PLC1 | PLC148 | PLCgamma1phospholipase C, gamma 1Kit interacts with PLC-gamma. This interaction was modeled on a demonstrated interaction between mouse proteins.BIND10022833 
PLCG1PLC-II | PLC1 | PLC148 | PLCgamma1phospholipase C, gamma 1-HPRD,BioGRID7536744 
PTPN11BPTP3 | CFC | MGC14433 | NS1 | PTP-1D | PTP2C | SH-PTP2 | SH-PTP3 | SHP2protein tyrosine phosphatase, non-receptor type 11-HPRD,BioGRID7523381 |9528781 
PTPN11BPTP3 | CFC | MGC14433 | NS1 | PTP-1D | PTP2C | SH-PTP2 | SH-PTP3 | SHP2protein tyrosine phosphatase, non-receptor type 11Syp interacts with c-Kit via its SH2 domain.BIND7523381 
PTPN6HCP | HCPH | HPTP1C | PTP-1C | SH-PTP1 | SHP-1 | SHP-1L | SHP1protein tyrosine phosphatase, non-receptor type 6-HPRD,BioGRID7684496 |9528781 
PTPROGLEPP1 | PTP-U2 | PTPU2protein tyrosine phosphatase, receptor type, O-HPRD,BioGRID10397721 
RFC1A1 | MGC51786 | MHCBFB | PO-GA | RECC1 | RFC | RFC140replication factor C (activator 1) 1, 145kDaAffinity Capture-WesternBioGRID10353443 
SH2B2APSSH2B adaptor protein 2-HPRD10872802 
SH3KBP1CIN85 | GIG10 | MIG18SH3-domain kinase binding protein 1Affinity Capture-WesternBioGRID12177062 
SOCS1CIS1 | CISH1 | JAB | SOCS-1 | SSI-1 | SSI1 | TIP3suppressor of cytokine signaling 1-HPRD,BioGRID10022833 
SOCS1CIS1 | CISH1 | JAB | SOCS-1 | SSI-1 | SSI1 | TIP3suppressor of cytokine signaling 1Socs1 interacts with Kit. This interaction was modeled on a demonstrated interaction between mouse proteinsBIND10022833 
SPRED1FLJ33903 | NFLSsprouty-related, EVH1 domain containing 1-HPRD12646235 
SPRED2FLJ21897 | FLJ31917 | MGC163164 | Spred-2sprouty-related, EVH1 domain containing 2-HPRD12646235 |14981116 
STAP1BRDG1 | STAP-1signal transducing adaptor family member 1-HPRD10679268 
STAT1DKFZp686B04100 | ISGF-3 | STAT91signal transducer and activator of transcription 1, 91kDaSTAT1-alpha interacts with c-kitBIND9355737 
STAT1DKFZp686B04100 | ISGF-3 | STAT91signal transducer and activator of transcription 1, 91kDa-HPRD,BioGRID9355737 
TECMGC126760 | MGC126762 | PSCTK4tec protein tyrosine kinase-HPRD,BioGRID7526158 
YES1HsT441 | P61-YES | Yes | c-yesv-yes-1 Yamaguchi sarcoma viral oncogene homolog 1Reconstituted ComplexBioGRID11071635 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CYTOKINE CYTOKINE RECEPTOR INTERACTION 267161All SZGR 2.0 genes in this pathway
KEGG ENDOCYTOSIS 183132All SZGR 2.0 genes in this pathway
KEGG HEMATOPOIETIC CELL LINEAGE 8860All SZGR 2.0 genes in this pathway
KEGG MELANOGENESIS 10280All SZGR 2.0 genes in this pathway
KEGG PATHWAYS IN CANCER 328259All SZGR 2.0 genes in this pathway
KEGG ACUTE MYELOID LEUKEMIA 6047All SZGR 2.0 genes in this pathway
BIOCARTA BAD PATHWAY 2623All SZGR 2.0 genes in this pathway
PID CMYB PATHWAY 8461All SZGR 2.0 genes in this pathway
PID KIT PATHWAY 5240All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY SCF KIT 7859All SZGR 2.0 genes in this pathway
REACTOME REGULATION OF KIT SIGNALING 1710All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN 481290All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 UP 408247All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS DUCTAL NORMAL DN 198110All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY DN 367220All SZGR 2.0 genes in this pathway
SMIRNOV CIRCULATING ENDOTHELIOCYTES IN CANCER UP 158103All SZGR 2.0 genes in this pathway
JAEGER METASTASIS DN 258141All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 10D UP 194122All SZGR 2.0 genes in this pathway
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 16D UP 175108All SZGR 2.0 genes in this pathway
JAATINEN HEMATOPOIETIC STEM CELL UP 316190All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS DN 508354All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER DN 232154All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 3 4WK UP 214144All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL UP 584356All SZGR 2.0 genes in this pathway
ZIRN TRETINOIN RESPONSE WT1 UP 2314All SZGR 2.0 genes in this pathway
MAHADEVAN IMATINIB RESISTANCE DN 2011All SZGR 2.0 genes in this pathway
BEGUM TARGETS OF PAX3 FOXO1 FUSION DN 4534All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355243All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS LUMINAL 326213All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS BASAL 330217All SZGR 2.0 genes in this pathway
SHI SPARC TARGETS DN 138All SZGR 2.0 genes in this pathway
HATADA METHYLATED IN LUNG CANCER UP 390236All SZGR 2.0 genes in this pathway
WEI MIR34A TARGETS 14897All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR UP 487286All SZGR 2.0 genes in this pathway
TENEDINI MEGAKARYOCYTE MARKERS 6648All SZGR 2.0 genes in this pathway
RADAEVA RESPONSE TO IFNA1 DN 105All SZGR 2.0 genes in this pathway
HEDVAT ELF4 TARGETS UP 128All SZGR 2.0 genes in this pathway
PARK HSC MARKERS 4431All SZGR 2.0 genes in this pathway
NAKAJIMA MAST CELL 4634All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED DN 246180All SZGR 2.0 genes in this pathway
ZHOU TNF SIGNALING 4HR 5436All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237837All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 24HR DN 148102All SZGR 2.0 genes in this pathway
YAMAZAKI TCEB3 TARGETS UP 175116All SZGR 2.0 genes in this pathway
YIH RESPONSE TO ARSENITE C2 1815All SZGR 2.0 genes in this pathway
NIELSEN GIST AND SYNOVIAL SARCOMA UP 2015All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR 681420All SZGR 2.0 genes in this pathway
LEIN CEREBELLUM MARKERS 8547All SZGR 2.0 genes in this pathway
RIGGI EWING SARCOMA PROGENITOR UP 430288All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL B DN 564326All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476285All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
MATZUK EMBRYONIC GERM CELL 1916All SZGR 2.0 genes in this pathway
MATZUK SPERMATOGONIA 2417All SZGR 2.0 genes in this pathway
QI PLASMACYTOMA UP 259185All SZGR 2.0 genes in this pathway
ALONSO METASTASIS NEURAL UP 1813All SZGR 2.0 genes in this pathway
MUELLER PLURINET 299189All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA C D DN 252155All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
CHANG CORE SERUM RESPONSE DN 209137All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435289All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368247All SZGR 2.0 genes in this pathway
KORKOLA EMBRYONIC CARCINOMA VS SEMINOMA DN 2514All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE 721492All SZGR 2.0 genes in this pathway
KYNG RESPONSE TO H2O2 VIA ERCC6 UP 4030All SZGR 2.0 genes in this pathway
NIELSEN GIST 9866All SZGR 2.0 genes in this pathway
LI INDUCED T TO NATURAL KILLER UP 307182All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP A 898516All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS UP 259159All SZGR 2.0 genes in this pathway
BAKKER FOXO3 TARGETS UP 6141All SZGR 2.0 genes in this pathway
WANG THOC1 TARGETS DN 2014All SZGR 2.0 genes in this pathway
HUANG GATA2 TARGETS UP 14996All SZGR 2.0 genes in this pathway
DELACROIX RAR BOUND ES 462273All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517302All SZGR 2.0 genes in this pathway
LIM MAMMARY LUMINAL PROGENITOR UP 5830All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-130/30116491655m8hsa-miR-130abrainCAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrainCAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3pUAGUGCAAUAUUGCUUAUAGGGUUU
miR-137196319691Ahsa-miR-137UAUUGCUUAAGAAUACGCGUAG
miR-142-5p20302036m8hsa-miR-142-5pCAUAAAGUAGAAAGCACUAC
miR-151124112471Ahsa-miR-151brainACUAGACUGAAGCUCCUUGAGG
miR-1816721678m8hsa-miR-18aUAAGGUGCAUCUAGUGCAGAUA
hsa-miR-18bUAAGGUGCAUCUAGUGCAGUUA
miR-1916481654m8hsa-miR-19aUGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19bUGUGCAAAUCCAUGCAAAACUGA
miR-193108810951A,m8hsa-miR-193aAACUGGCCUACAAAGUCCCAG
hsa-miR-193bAACUGGCCCUCAAAGUCCCGCUUU
miR-2057978031Ahsa-miR-205UCCUUCAUUCCACCGGAGUCUG
miR-218844850m8hsa-miR-218brainUUGUGCUUGAUCUAACCAUGU
miR-221/222195919661A,m8hsa-miR-221brainAGCUACAUUGUCUGCUGGGUUUC
hsa-miR-222brainAGCUACAUCUGGCUACUGGGUCUC