BRAF Gene
protein-coding GIFtS: 72
GCID: GC07M140424
|
|
v-raf murine sarcoma viral oncogene homolog B1
| |
Aliases for BRAF gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| V-Raf Murine Sarcoma Viral Oncogene Homolog B11 2 3 | | 94 KDa B-Raf Protein2 | | BRAF11 2 3 | | B-RAF12 | | Proto-Oncogene B-Raf2 3 | | B-Raf Proto-Oncogene Serine/Threonine-Protein Kinase (P94)2 | | RAFB12 3 | | Murine Sarcoma Viral (V-Raf) Oncogene Homolog B12 | | P941 | | Serine/Threonine-Protein Kinase B-Raf2 | | NS72 5 | | EC 2.7.11.13 |
Export aliases for BRAF gene to outside databasesPrevious GC identifers: GC07M138705 GC07M139764 GC07M139841 GC07M139754 GC07M139887 GC07M140080 GC07M134729 |
Summaries for BRAF gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for BRAF: This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays arole in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion.Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects,mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with variouscancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lungcarcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for thisgene. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056Function: Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role inthe postsynaptic responses of hippocampal neuron
summary
for BRAF: Raf kinases, a family of three serine/threonine kinases, are part of the ras-MAPK signaling cascade and phosphorylate MEK. Upon growth factor stimulation, Raf-1 (or c-Raf) is activated by GTP-bound Ras and recruited to the cell membrane. This activation process is tightly regulated by a number of factors including phosphatases (e.g. PP1, PP2A, PP5), kinases (e.g. Src, ERK, Akt, PKC) and proteins that bind directly to Raf-1 (e.g. RKIP, 14-3-3zeta, KSR, Hsp90). Raf-1 is also thought to be able to dimerize with wild type B-Raf in a Ras-dependent process. B-raf is commonly mutated and thereby activated in many human cancers, the most frequent mutation being the V600E mutation of the kinase domain. Whilst wt b-Raf and Raf-1 are strongly activated by growth factor signals via Ras and Src, a-Raf is only modestly activated and has low basal activity. All three isoforms of Raf are considered to be oncogenic. Gene Wiki entry for BRAF
|
Genomic Views for BRAF gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000007.13 NC_018918.1 NT_007914.15 NT_079596.2
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the BRAF gene promoter: p53 AP-1 ATF-2 E2F-2 C/EBPalpha E2F E2F-1 STAT3 c-Jun Other transcription factors
Search SABiosciences Chromatin IP Primers for BRAF
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRAF |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 7q34 Ensembl cytogenetic band: 7q34 HGNC cytogenetic band: 7q34BRAF Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M140424: view genomic region
(about GC identifiers)
Start:
|
140,424,943 bp from pter |
End:
|
140,624,564 bp from pter |
Size:
|
199,622 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 139,771,989-139,962,886 |
|
Proteins for BRAF gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056 (See
protein sequence)Recommended Name: Serine/threonine-protein kinase B-raf Size: 766 amino acids; 84437 Da
Cofactor: Binds 2 zinc ions per subunit (By similarity)
Subunit: Monomer. Homodimer. Heterodimerizes with RAF1, and the heterodimer possesses a highly increased kinaseactivity compared to the respective homodimers or monomers. Heterodimerization is mitogen-regulated and enhanced by14-3-3 proteins. MAPK1/ERK2 activation can induce a negative feedback that promotes the dissociation of theheterodimer by phosphorylating BRAF at Thr-753. Found in a complex with at least BRAF, HRAS1, MAP2K1, MAPK3 and RGS14.Interacts with RIT1. Interacts (via N-terminus) with RGS14 (via RBD domains); the interaction mediates the formationof a ternary complex with RAF1, a ternary complex inhibited by GNAI1 (By similarity). Interacts with DGKH. Interactswith PRMT5
Subcellular location: Nucleus (By similarity). Cytoplasm. Cell membrane (By similarity). Note=Colocalizes with RGS14and RAF1 in both the cytoplasm and membranes (By similarity)
Sequence caution: Sequence=AAD43193.1; Type=Erroneous gene model prediction; Sequence=CAQ43111.1; Type=Erroneousinitiation; Note=Translation N-terminally shortened; Sequence=CAQ43112.1; Type=Erroneous initiation; Note=TranslationN-terminally shortened; Sequence=CAQ43113.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;Sequence=CAQ43114.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAQ43115.1;Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAQ43116.1; Type=Erroneous initiation;Note=Translation N-terminally shortened;
6/27 PDB 3D structures from and Proteopedia for BRAF (see all 27):1UWH (3D)
  1UWJ (3D)
  2FB8 (3D)
  2L05 (3D)
  3C4C (3D)
  3D4Q (3D)
 
Secondary accessions: A4D1T4 B6HY61 B6HY62 B6HY63 B6HY64 B6HY65 B6HY66 Q13878 Q3MIN6 Q9UDP8 Q9Y6T3Explore the universe of human proteins at neXtProt for BRAF: NX_P15056
Post-translational modifications:
Phosphorylation at Ser-365 by SGK1 inhibits its activity1
Methylation at Arg-671 decreases stability and kinase activity1
Ubiquitinated by RNF149; which leads to proteasomal degradation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P15056 BRAF Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_004324.2 ENSEMBL proteins: ENSP00000419060 ENSP00000288602 ENSP00000418033 ENSP00000420119 Reactome Protein details: P15056 Human Recombinant Protein Products:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
BRAF for ontologies About GeneDecksing
BRAF Antibody Products: Assay Products for BRAF: |
Protein
Domains / Families for BRAF gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BRAF for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry P15056ProtoNet protein and cluster: P15056 2 Blocks protein families: IPB002219 Protein kinase C IPB003116 Raf-like Ras-binding
UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamilySimilarity: Contains 1 phorbol-ester/DAG-type zinc fingerSimilarity: Contains 1 protein kinase domainSimilarity: Contains 1 RBD (Ras-binding) domain |
Function for BRAF gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056Function: Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role inthe postsynaptic responses of hippocampal neuronCatalytic activity: ATP + a protein = ADP + a phosphoproteinEnzyme regulation: Activity is increased by EGF and HGF Genatlas biochemistry entry for BRAF:murine sarcoma 3611 viral (v-raf) oncogene homolog B1 (Rmil),expressed in cerebrum and testis,fused with TIF1A to formthe oncoprotein T18 Enzyme Number (IUBMB): EC 2.7.11.11
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BRAF (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BRAF OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BRAF (NM_004333) | |  | Sino Biological Human cDNA Clone for BRAF | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BRAF | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRAF  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRAF |
Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table
BRAF for ontologies About GeneDecksing
4 GenomeRNAi human phenotypes for BRAF: Animal Models: Mouse knock-outs for BRAF: Braftm1.1Wds Braftm1.1Sva Braftm1Zim 15/25 MGI mutant phenotypes (inferred from 14 alleles ) (MGI details for Braf) (see all 25):
BRAF for phenotypes About GeneDecksing
|
Pathways & Interactions for BRAF gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways - 5/83 super-pathways (see all 83) About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | IL-9 Signaling Pathways | | | 2 | ErbB4 Pathway | | | 3 | G-protein signaling_G-Protein alpha-i signaling cascades | | | 4 | GPCR Pathway | | | 5 | Glioma | |
Pathway sources See GeneCards unified pathways Show all pathways
5/17 EMD Millipore Pathways for BRAF (see all 17) 5/9 R&D Systems Pathways for BRAF (see all 9) 5/59 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BRAF (see all 59) 1
Cell Signaling Technology (CST) Pathway for BRAF 3 Tocris Bioscience Pathways for BRAF 5/17 GeneGo (Thomson Reuters) Pathways for BRAF (see all 17) 5/19 BioSystems Pathways for BRAF (see all 19) 
5/20
Reactome Pathways for BRAF (see all 20) 2 PharmGKB Pathways for BRAF 5/27
Kegg Pathways (Kegg details for BRAF) (see all 27):
BRAF for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BRAF
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/122 Interacting proteins for BRAF (P150561, 2, 3 ENSP000002886024) via UniProtKB, MINT, STRING, and/or I2D (see all 122)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| MAP3K1 | Q132332, 3, ENSP000003824234 | MINT-3374124 MINT-2833404 I2D:
score=1 STRING: ENSP00000382423 | | RPS6KA2 | Q153492, 3, ENSP000003860504 | MINT-2833347 MINT-2833314 I2D:
score=1 STRING: ENSP00000386050 | | KSR1 | Q8IVT52, 3, ENSP000002687634 | MINT-8396979 I2D:
score=2 STRING: ENSP00000268763 | | HSP90AB1 | P082381, 3, ENSP000003258754 | EBI-365980,EBI-352572 I2D:
score=1 STRING: ENSP00000325875 | | SFN | P319472, 3 | MINT-3975375 I2D:
score=2 | About this table
Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17): About this table
BRAF for ontologies About GeneDecksing
|
Drugs & Compounds for BRAF gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
BRAF for compounds About GeneDecksing
Compounds for BRAF available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| GDC 0879 | Potent B-Raf inhibitor | [905281-76-7] | | ZM 336372 | Potent, selective c-Raf inhibitor | [208260-29-1] | | SB 590885 | Potent B-Raf inhibitor | [405554-55-4] | | GW 5074 | Potent, selective c-Raf1 kinase inhibitor | [220904-83-6] | | L-779,450 | Potent Raf kinase inhibitor | [303727-31-3] |
10/845 HMDB Compounds for BRAF (see all 845) About this table
4 DrugBank Compounds for BRAF About this table
10/58 Novoseek chemical compound relationships for BRAF gene (see all 58) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| crcs |
79.1 |
24 |
19474002 (4), 19147861 (2), 18435933 (2), 15542810 (2) (see all 15) |
| panitumumab |
77.9 |
3 |
19001320 (4), 19806185 (2), 18621636 (2), 19935791 (1) |
| cetuximab |
71.4 |
23 |
19001320 (4), 20146801 (3), 19806185 (2), 19884556 (2) (see all 13) |
| sorafenib |
71.2 |
33 |
19638574 (5), 18676765 (3), 19878585 (3), 18192256 (1) (see all 20) |
| threonine |
60.8 |
41 |
8557035 (1), 14508525 (1), 19206169 (1), 1630826 (1) (see all 35) |
| gw-5074 |
59.5 |
11 |
18194435 (5), 16314406 (1), 15255937 (1) |
| 17-(allylamino)-17-demethoxygeldanamycin |
58.8 |
10 |
18375819 (2), 16371460 (1), 18281615 (1), 18676857 (1) |
| o6-methylguanine |
51.4 |
6 |
19164452 (1), 17867575 (1), 18300810 (1), 15616773 (1) (see all 6) |
| valine |
47.7 |
10 |
15688405 (1), 16964379 (1), 19149686 (1), 19200582 (1) (see all 9) |
| phosphatidylinositol |
46.1 |
6 |
15263001 (2), 8576262 (1), 17183069 (1), 19118027 (1) (see all 5) |
1 PharmGKB related drug/compound annotation for BRAF geneAbout this table
Search CenterWatch for drugs/clinical trials and news about BRAF 
|
Transcripts for BRAF gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for BRAF gene: NM_004333.4 Unigene Cluster for BRAF: V-raf murine sarcoma viral oncogene homolog B1 Hs.550061 [show with all ESTs]Unigene Representative Sequence: NM_0043335 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000496384 ENST00000288602(uc003vwc.4) ENST00000479537 ENST00000497784 ENST00000469930
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BRAF (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BRAF OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BRAF (NM_004333) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BRAF | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BRAF  |
Additional cDNA sequence: AK314346.1 BC038966.1 BC101757.1 BC112079.1 GU149303.1 HM053972.1 HM437233.1 M21001.1 M95712.2 8 DOTS entries: DT.412400 DT.95121279 DT.92070713 DT.121078775 DT.75172532 DT.121078703 DT.40105916 DT.445289 24/151 AceView cDNA sequences (see all 151): AK098095 AI435611 AA676542 AL135067 CB241287 AA907838 BQ771705 AA705424 BE620440 AI378370 CA396753 AA279937 AI796104 AA905230 BU742293 BX280711 AI378339 AA812678 AA679780 BM931879 CA868313 AI384098 AU118767 BF089752 GeneLoc Exon Structure
|
Expression for BRAF gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BRAF expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AAGAGATTAA
About this image See BRAF Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for BRAF
SOURCE GeneReport for Unigene cluster: Hs.550061 UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056Tissue specificity: Brain and testis SABiosciences Expression via Pathway-Focused PCR Arrays including BRAF (see all 7):
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BRAF Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BRAF | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BRAF | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BRAF | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRAF |
Orthologs for BRAF gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for BRAF gene from 8/28 species (see all 28) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
BRAF1 |
v-raf murine sarcoma viral oncogene homolog B1 |
85.67(n) 94.63(a) |
  |
396239 NM_205302.1 NP_990633.1 |
lizard (Anolis carolinensis) |
Reptilia |
BRAF6 |
-- |
86(a) |
1 ↔ 1 |
5(15603244-15652623) |
African clawed frog (Xenopus laevis) |
Amphibia |
BRAF2 |
serine/threonine protein kinase BRAF |
79.22(n) |
  |
AB113401.1 |
zebrafish (Danio rerio) |
Actinopterygii |
AB113402.12 |
-- |
76.52(n) |
  |
AB113402.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
phl1 , 3 |
dorsal/ventral axis determination, follicular more3 pole hole1 |
42(a)3 50.9(n)1 48.16(a)1 |
  |
1 3A13 312211 NM_080308.21 NP_525047.11 |
worm (Caenorhabditis elegans) |
Secernentea |
lin-451 , 3 |
Expression: head neurons, neurons3 Protein LIN-451 |
54(a)3 51.83(n)1 48.29(a)1 |
  |
IV(6743426-6747592)3 1774361 NM_171367.41 NP_741430.31 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
AT3G247156AT3G469206(see all 7) |
octicosapeptide/Phox/Bem1p domain-containing prote...octicosapeptide/Phox/Bem1p domain-containing prote...(see all 7) |
9(a)9(a)(see all 7) |
many ↔ manymany ↔ many(see all 7) |
3(9025849-9029948) 3(17280430-17284857) |
rice (Oryza sativa) |
Liliopsida |
----(see all 5) |
protein kinase domain containing protein, expresse...protein kinase domain containing protein, expresse...(see all 5) |
9(a)9(a)(see all 5) |
many ↔ manymany ↔ many(see all 5) |
6(26398279-26404234) 2(33380337-33387027) |
ENSEMBL Gene Tree for BRAF (if available) TreeFam Gene Tree for BRAF (if available)  |
Paralogs for BRAF gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for BRAF gene
- MAP3K112 MAP3K122 KIAA18042 RAF12 KSR22 KSR12 MOS2 MAP3K102
- MAP3K92 ARAF2 MAP3K72 MAP3K7CL2 TNNI3K2 ZAK2 MAP3K132 ILK2
18/106 SIMAP similar genes for BRAF using alignment to 8 protein entries: BRAF_HUMAN (see all proteins)
(see all similar genes):RAF1 ARAF MARK2 BLK RPS6KA2 JAK2 MARK4 TESK2 TYRO3 MAP3K9 MAP3K6 NEK5 MAP3K15 MERTK NEK8 PHKG2 RPS6KA3 CDK16
BRAF for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for BRAF PGOHUM00000241860
|
Genomic Variants for BRAF gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 7 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for BRAF (140424943 - 140624564 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for BRAF 1 Indel: 41033 Human Gene Mutation Database (HGMD): BRAF
 | 5/38 SABiosciences Cancer Mutation PCR Assays for BRAF (see all 38): |
 | 5/31 SABiosciences Cancer Mutation PCR Arrays containing BRAF (see all 31): |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BRAF |
|
Disorders
/ Diseases for BRAF gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
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BRAF for disorders About GeneDecksing
OMIM gene information: 164757 OMIM disorders: 211980 115150 613706 613707 UniProtKB/Swiss-Prot: BRAF_HUMAN, P15056
Note=Defects in BRAF are found in a wide range of cancers Defects in BRAF may be a cause of colorectal cancer (CRC) [MIM:114500] Defects in BRAF are involved in lung cancer (LNCR) [MIM:211980]. LNCR is a common malignancy affecting tissuesof the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is oftendiagnosed at an advanced stage and has a poor prognosis Defects in BRAF are involved in non-Hodgkin lymphoma (NHL) [MIM:605027]. NHL is a cancer that starts in cellsof the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked byenlarged lymph nodes, fever and weight loss Defects in BRAF are a cause of cardiofaciocutaneous syndrome (CFC syndrome) [MIM:115150]; also known ascardio-facio-cutaneous syndrome. CFC syndrome is characterized by a distinctive facial appearance, heart defects andmental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy.Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skinlesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. Theyinclude high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures,a depressed nasal bridge, and posteriorly angulated ears with prominent helices. The inheritance of CFC syndrome isautosomal dominant Defects in BRAF are the cause of Noonan syndrome type 7 (NS7) [MIM:613706]. Noonan syndrome is a disordercharacterized by facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotatedears. Other features can include short stature, a short neck with webbing or redundancy of skin, cardiac anomalies,deafness, motor delay and variable intellectual deficits Defects in BRAF are the cause of LEOPARD syndrome type 3 (LEOPARD3) [MIM:613707]. LEOPARD3 is a disordercharacterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis,abnormalities of genitalia, retardation of growth, and sensorineural deafness Note=A chromosomal aberration involving BRAF is found in pilocytic astrocytomas. A tandem duplication of 2 Mbat 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducingcell transformation 20/150 diseases for BRAF (see all 150): About MalaCardsnon-small cell lung carcinoma non-hodgkin lymphoma hodgkin's lymphoma cardiofaciocutaneous syndrome thyroid carcinoma colorectal cancer carcinoma adenocarcinoma nonsmall cell lung cancer, somatic lung carcinoma thyroiditis melanoma spitz nevus sarcoma struma ovarii familial adenomatous polyposis pilocytic astrocytoma of cerebellum posterior uveal melanoma melanoma, malignant, somatic developmental disabilities
1 disease from the University of Copenhagen DISEASES database for BRAF:Melanoma 10/97 Novoseek disease relationships for BRAF gene (see all 97) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| thyroid papillary carcinoma |
91.4 |
159 |
15968271 (6), 17060774 (4), 20012784 (3), 15095090 (2) (see all 99) |
| cfc syndrome |
89.8 |
17 |
18651097 (2), 17366577 (2), 17551924 (2), 19376813 (2) (see all 12) |
| microsatellite instability |
89.4 |
103 |
16403224 (4), 18718023 (3), 15221372 (2), 18517279 (2) (see all 87) |
| papillary thyroid cancer |
86.7 |
58 |
16487015 (3), 16174717 (2), 12970315 (2), 16708643 (2) (see all 41) |
| melanoma |
85.4 |
857 |
15824163 (9), 15917418 (8), 17699719 (8), 15060100 (7) (see all 99) |
| somatic mutations |
81.4 |
66 |
20200438 (3), 16567964 (2), 14688025 (2), 14612909 (1) (see all 54) |
| thyroid cancer |
80.5 |
69 |
17878251 (5), 19878585 (5), 12970315 (3), 17179987 (3) (see all 40) |
| thyroid carcinoma anaplastic |
79.9 |
20 |
15195111 (7), 16533790 (2), 15880523 (1), 17878251 (1) (see all 11) |
| colorectal cancer |
79.9 |
211 |
14734469 (7), 17924122 (6), 15782118 (5), 15340260 (5) (see all 99) |
| tumors |
74.1 |
721 |
16199894 (6), 18473997 (6), 18235983 (5), 19919912 (5) (see all 99) |
GeneTests: BRAF Costello SyndromeCardiofaciocutaneous Syndrome Genetic Association Database (GAD): BRAF Human Genome Epidemiology (HuGE) Navigator: BRAF (256 documents) Export disorders for BRAF gene to outside databases
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Publications for BRAF gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BRAF gene, integrated from 9 sources (see all 1671): (articles sorted by number of sources associating them with BRAF) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Complete coding sequence of a human B-raf cDNA and detection of B-raf protein kinase with isozyme specific antibodies. (PubMed id 2284096)1, 2, 3 Sithanandam G.... Rapp U.R. (1990)
- BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. (PubMed id 16174717)1, 4, 9 Xing M....Ladenson P.W. (2005)
- BRAF mutations in non-Hodgkin's lymphoma. (PubMed id 14612909)1, 2, 9 Lee J.W.... Lee S.H. (2003)
- No Evidence for BRAF as a melanoma/nevus susceptibility gene. (PubMed id 15824163)1, 4, 9 Jackson S....Newton Bishop J.A. (2005)
- BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study. (PubMed id 14722037)1, 4, 9 Casula M....Palmieri G. (2004)
- BRAF mutation in endometrial carcinoma and hyperplasi a: correlation with KRAS and p53 mutations and mismatch repair protein expressi on. (PubMed id 16144912)1, 4, 9 Feng Y.Z....Konishi I. (2005)
- Mutations of the BRAF gene in papillary thyroid carcinoma and in Hashimoto's thyroiditis. (PubMed id 16143028)1, 4, 9 Kim K.H....Kang D.Y. (2005)
- BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors. (PubMed id 16015629)1, 4, 9 Lubomierski N....Raedle J. (2005)
- BRAF and NRAS mutations are frequent in nodular melanoma but are not associated with tumor cell proliferation or patient survival. (PubMed id 16098042)1, 4, 9 Akslen L.A....Kumar R. (2005)
- Diacylglycerol kinase eta augments C-Raf activity and B-Raf/C-Raf heterodimerization. (PubMed id 19710016)1, 2, 9 Yasuda S....Sakane F. (2009)
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External Searches for BRAF gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing BRAF gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing BRAF gene
(According to HUGE)
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Specialized Databases showing BRAF gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for BRAF | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for BRAF | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BRAF |
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| Patent Information for BRAF gene: Search GeneIP for patents involving BRAF
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products for BRAF gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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