Gene Gene information from NCBI Gene database.
Entrez ID 6714
Gene name SRC proto-oncogene, non-receptor tyrosine kinase
Gene symbol SRC
Synonyms (NCBI Gene)
ASVSRC1THC6c-SRCp60-Src
Chromosome 20
Chromosome location 20q11.23
Summary This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibi
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121913314 C>T Likely-pathogenic, pathogenic Stop gained, coding sequence variant
rs879255268 G>A Likely-pathogenic, pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
165
miRTarBase ID miRNA Experiments Reference
MIRT007051 hsa-miR-23b-3p Luciferase reporter assay 23074286
MIRT007357 hsa-miR-33a-5p ImmunofluorescenceLuciferase reporter assayWestern blot 23547260
MIRT007357 hsa-miR-33a-5p ImmunofluorescenceLuciferase reporter assayWestern blot 23547260
MIRT024971 hsa-miR-205-5p Reporter assay 21330408
MIRT053284 hsa-miR-203a-3p ImmunoprecipitaionqRT-PCRWestern blot 23462723
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SP1 Unknown 19112177
TAF1 Unknown 14993269
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
191
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 21531765
GO:0000166 Function Nucleotide binding IEA
GO:0002102 Component Podosome IEA
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway TAS
GO:0002283 Process Neutrophil activation involved in immune response ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190090 11283 ENSG00000197122
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12931
Protein name Proto-oncogene tyrosine-protein kinase Src (EC 2.7.10.2) (Proto-oncogene c-Src) (pp60c-src) (p60-Src)
Protein function Non-receptor protein tyrosine kinase which is activated following engagement of many different classes of cellular receptors including immune response receptors, integrins and other adhesion receptors, receptor protein tyrosine kinases, G protei
PDB 1A07 , 1A08 , 1A09 , 1A1A , 1A1B , 1A1C , 1A1E , 1FMK , 1HCS , 1HCT , 1KSW , 1O41 , 1O42 , 1O43 , 1O44 , 1O45 , 1O46 , 1O47 , 1O48 , 1O49 , 1O4A , 1O4B , 1O4C , 1O4D , 1O4E , 1O4F , 1O4G , 1O4H , 1O4I , 1O4J , 1O4K , 1O4L , 1O4M , 1O4N , 1O4O , 1O4P , 1O4Q , 1O4R , 1SHD , 1Y57 , 1YI6 , 1YOJ , 1YOL , 1YOM , 2BDF , 2BDJ , 2H8H , 2SRC , 3VRO , 3ZMP , 3ZMQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00018 SH3_1 90 137 SH3 domain Domain
PF00017 SH2 151 233 SH2 domain Domain
PF07714 PK_Tyr_Ser-Thr 270 519 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed ubiquitously. Expressed in the skin (at protein level) (PubMed:22294297). Platelets, neurons and osteoclasts express 5-fold to 200-fold higher levels than most other tissues. {ECO:0000269|PubMed:22294297}.; TISSUE SPECIFICITY
Sequence
Sequence length 536
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon cancer, advanced Pathogenic rs121913314 RCV000013401
Osteoporosis Likely pathogenic rs879255268 RCV001003535
Primary myelofibrosis Likely pathogenic rs879255268 RCV001003535
Thrombocytopenia Likely pathogenic rs879255268 RCV001003535
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs2145792 RCV005923228
Nonpapillary renal cell carcinoma Uncertain significance rs367543242 RCV005887705
SRC-related disorder Likely benign; Benign rs111844926, rs559060103, rs757188731, rs150488614, rs751359112, rs201170704, rs80023903, rs56182609, rs6012117 RCV003965903
RCV003909357
RCV003924589
RCV003934249
RCV003946939
RCV003954570
RCV003957978
RCV004757298
RCV003970792
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 25007143, 25350844, 37010714
Adenocarcinoma of Lung Associate 21623279, 22157722, 23874428, 26556867, 28415726, 29927028, 33593309, 33985619, 37000102
Adenoma Associate 23778325
Adenoma Stimulate 7509341
Adenomatous Polyposis Coli Associate 27698945
Alzheimer Disease Associate 26519433, 32812532, 34686734, 37010714
Amyotrophic Lateral Sclerosis Associate 28539470, 37682161
Anophthalmia with pulmonary hypoplasia Associate 22761868
Arterial Tortuosity Syndrome Associate 26376865
Arthritis Associate 18062965, 24385683