• Gene id: 673

Gene Summary

• Gene Symbol: BRAF   Gene   UCSC   Ensembl
• Aliases: B-RAF1, B-raf, BRAF1, NS7, RAFB1
• Gene name: B-Raf proto-oncogene, serine/threonine kinase
• Alternate names: serine/threonine-protein kinase B-raf, 94 kDa B-raf protein, B-Raf proto-oncogene serine/threonine-protein kinase (p94), B-Raf serine/threonine-protein, murine sarcoma viral (v-raf) oncogene homolog B1, proto-oncogene B-Raf, v-raf murine sarcoma viral oncogene ,
• Gene location: 7q34 (140924928: 140713327)     Exons: 23     NC_000007.14
• Gene summary(Entrez): This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene,
• OMIM: 164757

SNPs

rs10269148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.135230056C>A
NC_000007.14   g.135230056C>G
NC_000007.13   g.134914808C>A
NC_000007.13   g.134914808C>G|SEQ=[C/A/G]|GENE=STRA8

rs17168319

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.135230201A>G
NC_000007.13   g.134914953A>G|SEQ=[A/G]|GENE=STRA8

rs17168337

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.135258880C>G
NC_000007.13   g.134943632C>G|SEQ=[C/G]|GENE=STRA8

Protein Summary

• Protein general information: P15056  
  • Name: Serine/threonine protein kinase B raf (EC 2.7.11.1) (Proto oncogene B Raf) (p94) (v Raf murine sarcoma viral oncogene homolog B1)
  • Length: 766  
  • Mass: 84437
  • Tissue specificity: Brain and testis.
• Sequence:

  MAALSGGGGGGAEPGQALFNGDMEPEAGAGAGAAASSAADPAIPEEVWNIKQMIKLTQEHIEALLDKFGGEHNPP
  SIYLEAYEEYTSKLDALQQREQQLLESLGNGTDFSVSSSASMDTVTSSSSSSLSVLPSSLSVFQNPTDVARSNPK
  SPQKPIVRVFLPNKQRTVVPARCGVTVRDSLKKALMMRGLIPECCAVYRIQDGEKKPIGWDTDISWLTGEELHVE
  VLENVPLTTHNFVRKTFFTLAFCDFCRKLLFQGFRCQTCGYKFHQRCSTEVPLMCVNYDQLDLLFVSKFFEHHPI
  PQEEASLAETALTSGSSPSAPASDSIGPQILTSPSPSKSIPIPQPFRPADEDHRNQFGQRDRSSSAPNVHINTIE
  PVNIDDLIRDQGFRGDGGSTTGLSATPPASLPGSLTNVKALQKSPGPQRERKSSSSSEDRNRMKTLGRRDSSDDW
  EIPDGQITVGQRIGSGSFGTVYKGKWHGDVAVKMLNVTAPTPQQLQAFKNEVGVLRKTRHVNILLFMGYSTKPQL
  AIVTQWCEGSSLYHHLHIIETKFEMIKLIDIARQTAQGMDYLHAKSIIHRDLKSNNIFLHEDLTVKIGDFGLATV
  KSRWSGSHQFEQLSGSILWMAPEVIRMQDKNPYSFQSDVYAFGIVLYELMTGQLPYSNINNRDQIIFMVGRGYLS
  PDLSKVRSNCPKAMKRLMAECLKKKRDERPLFPQILASIELLARSLPKIHRSASEPSLNRAGFQTEDFSLYACAS
  PKTPIQAGGYGAFPVH

• Structural information:
  • Protein Domains: (155..22-)
    (/note="RBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00262-)
    (457..71-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR020454  IPR011009  IPR002219  IPR000719  IPR017441   IPR003116  IPR001245  IPR008271  IPR029071  
  • Prosite: PS00107 PS50011 PS00108 PS50898 PS00479 PS50081
  • CDD: cd00029
  • PDB: 1UWH 1UWJ 2FB8 2L05 3C4C 3D4Q 3IDP 3II5 3NY5 3OG7 3PPJ 3PPK 3PRF 3PRI 3PSB 3PSD 3Q4C 3Q96 3SKC 3TV4 3TV6 4CQE 4DBN 4E26 4E4X 4EHE 4EHG 4FC0 4FK3 4G9C 4G9R 4H58 4JVG 4KSP 4KSQ 4MBJ 4MNE 4MNF 4PP7 4R5Y 4RZV 4RZW 4WO5 4XV1 4XV2 4XV3 4XV9 4YHT 5C9C 5CSW 5CSX 5CT7 5FD2 5HI2 5HID 5HIE 5ITA 5J17 5J18 5J2R 5JRQ 5JSM 5JT2 5VA
  • PDBsum: 1UWH 1UWJ 2FB8 2L05 3C4C 3D4Q 3IDP 3II5 3NY5 3OG7 3PPJ 3PPK 3PRF 3PRI 3PSB 3PSD 3Q4C 3Q96 3SKC 3TV4 3TV6 4CQE 4DBN 4E26 4E4X 4EHE 4EHG 4FC0 4FK3 4G9C 4G9R 4H58 4JVG 4KSP 4KSQ 4MBJ 4MNE 4MNF 4PP7 4R5Y 4RZV 4RZW 4WO5 4XV1 4XV2 4XV3 4XV9 4YHT 5C9C 5CSW 5CSX 5CT7 5FD2 5HI2 5HID 5HIE 5ITA 5J17 5J18 5J2R 5JRQ 5JSM 5JT2 5VA
  • DIP: 1045
  • STRING: ENSP00000288602
• Other Databases: GeneCards:  BRAF  Malacards:  BRAF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090150	establishment of protein localization to membrane	IDA	biological process
GO:0010828	positive regulation of glucose transmembrane transport	IDA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0004672	protein kinase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004672	protein kinase activity	TAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0070413	trehalose metabolism in response to stress	IMP	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0004672	protein kinase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0097110	scaffold protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0000165	MAPK cascade	IDA	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IDA	biological process
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0000186	activation of MAPKK activity	IDA	biological process
GO:0031267	small GTPase binding	IPI	NOT|molecular function
GO:0004672	protein kinase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa04010	MAPK signaling pathway
hsa04810	Regulation of actin cytoskeleton
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa04062	Chemokine signaling pathway
hsa04510	Focal adhesion
hsa05034	Alcoholism
hsa05205	Proteoglycans in cancer
hsa04150	mTOR signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04934	Cushing syndrome
hsa04910	Insulin signaling pathway
hsa05226	Gastric cancer
hsa05161	Hepatitis B
hsa05224	Breast cancer
hsa04270	Vascular smooth muscle contraction
hsa05160	Hepatitis C
hsa04722	Neurotrophin signaling pathway
hsa04068	FoxO signaling pathway
hsa04726	Serotonergic synapse
hsa04650	Natural killer cell mediated cytotoxicity
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04914	Progesterone-mediated oocyte maturation
hsa04012	ErbB signaling pathway
hsa01522	Endocrine resistance
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05215	Prostate cancer
hsa04720	Long-term potentiation
hsa05214	Glioma
hsa05212	Pancreatic cancer
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa05221	Acute myeloid leukemia
hsa05211	Renal cell carcinoma
hsa05218	Melanoma
hsa05223	Non-small cell lung cancer
hsa04730	Long-term depression
hsa05213	Endometrial cancer
hsa05216	Thyroid cancer
hsa05219	Bladder cancer
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Noonan syndrome and related disorders	KEGG:H00523
Thyroid cancer	KEGG:H00032
Noonan syndrome	KEGG:H01738
Cardiofaciocutaneous syndrome	KEGG:H01745
Erdheim-Chester disease	KEGG:H02425
Melanoma	KEGG:H00038
Langerhans cell histiocytosis	KEGG:H01512
Leopard syndrome	KEGG:H01984
Noonan syndrome and related disorders	KEGG:H00523
Thyroid cancer	KEGG:H00032
Noonan syndrome	KEGG:H01738
Cardiofaciocutaneous syndrome	KEGG:H01745
Erdheim-Chester disease	KEGG:H02425
Melanoma	KEGG:H00038
Langerhans cell histiocytosis	KEGG:H01512
Leopard syndrome	KEGG:H01984
colorectal adenocarcinoma	PMID:24500602
Cardiofaciocutaneous syndrome	PMID:16474404
Colon carcinoma	PMID:22319199
pancreatic cancer	PMID:22871572
Melanoma	PMID:16424035
Melanoma	PMID:22319199
Melanoma	PMID:25623140
prostate adenocarcinoma	PMID:19079609
Dysembryoplastic neuroepithelial tumor	PMID:25346165
Endometrial carcinoma	PMID:16144912
Astrocytoma	PMID:19794125
Astrocytoma	PMID:25346165
Germinoma	PMID:19289622
thyroid gland papillary carcinoma	PMID:22702340
pleomorphic xanthoastrocytoma	PMID:25346165
intrahepatic cholangiocarcinoma	PMID:24139215
cholangiocarcinoma	PMID:12692057
Bile duct adenoma	PMID:25704541
pancreatic acinar cell adenocarcinoma	PMID:25266736
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq