Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6714
Gene name Gene Name - the full gene name approved by the HGNC.
SRC proto-oncogene, non-receptor tyrosine kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SRC
Synonyms (NCBI Gene) Gene synonyms aliases
ASV, SRC1, THC6, c-SRC, p60-Src
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT007051 hsa-miR-23b-3p Luciferase reporter assay 23074286
MIRT007357 hsa-miR-33a-5p Immunofluorescence, Luciferase reporter assay, Western blot 23547260
MIRT007357 hsa-miR-33a-5p Immunofluorescence, Luciferase reporter assay, Western blot 23547260
MIRT024971 hsa-miR-205-5p Reporter assay 21330408
MIRT053284 hsa-miR-203a-3p Immunoprecipitaion, qRT-PCR, Western blot 23462723
Transcription factors
Transcription factor Regulation Reference
SP1 Unknown 19112177
TAF1 Unknown 14993269
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190090 11283 ENSG00000197122
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Thrombocytopenia thrombocytopenia 6 rs879255268 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carcinoma Squamous cell carcinoma N/A N/A GWAS
Colorectal Cancer colorectal cancer N/A N/A GenCC
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Associations from Text Mining Disease 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