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MCF2L (MCF.2 cell line derived transforming sequence like)
Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23263
Gene nameGene Name - the full gene name approved by the HGNC.
MCF.2 cell line derived transforming sequence like
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MCF2L
SynonymsGene synonyms aliases
ARHGEF14, DBS, OST
ChromosomeChromosome number
13
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q34
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005615 Component Extracellular space HDA 22664934
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IEA
GO:0007186 Process G protein-coupled receptor signaling pathway TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O15068
Protein name Guanine nucleotide exchange factor DBS (DBL's big sister) (MCF2-transforming sequence-like protein)
Protein function Guanine nucleotide exchange factor that catalyzes guanine nucleotide exchange on RHOA and CDC42, and thereby contributes to the regulation of RHOA and CDC42 signaling pathways (By similarity). Seems to lack activity with RAC1. Becomes activated and highly tumorigenic by truncation of the N-terminus (By similarity). Isoform 5 activates CDC42 (PubMed:15157669). ; [Isoform 3]: Does not catalyze guanine nucleotide exchange on CDC42 (PubMed:15157669).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13716 CRAL_TRIO_2
91 → 225
Divergent CRAL/TRIO domain
 Domain
PF00435 Spectrin
351 → 456
Spectrin repeat
 Domain
PF00621 RhoGEF
635 → 809
RhoGEF domain
 Domain
PF00169 PH
830 → 945
PH domain
 Domain
PF07653 SH3_2
1059 → 1114
Variant SH3 domain
 Domain
Sequence 
MFDCWRFILCKRPGSNSYSSPQRPNEAKKEETDHQIDVSDVIRLVQDTPEATAMATDEIM
HQDIVPLCAADIQDQLKKRFAYLSGGRGQDGSPVITFPDYPAFSEIPDKEFQNVMTYLTS
IPSLQDAGIGFILVIDRRRDKWTSVKASVLRIAASFPANLQLVLVLRPTGFFQRTLSDIA
FKFNRDDFKMKVPVIMLSSVPDLHGYIDKSQLTEDLGGTLDYCHSRWLCQRTAIESFALM
VKQTAQMLQSFGTELAETELPNDVQSTSSVLCAHTEKKDKAKEDLRLALKEGHSVLESLR
ELQAEGSEPSVNQDQLDNQATVQRLLAQLNETEAAFDEFWAKHQQKLEQCLQLRHFEQGF
REVKAILDAASQKIATFTDIGNSLAHVEHLLRDLASFEEKSGVAVERARALSLDGEQLIG
NKHYAVDSIRPKCQELRHLCDQFSAEIARRRGLLSKSLELHRRLETSMKWCDEGIYLLAS
QPVDKCQSQDGAEAALQEIEKFLETGAENKIQELNAIYKEYESILNQDLMEHVRKVFQKQ
ASMEEVFHRRQASLKKLAARQTRPVQPVAPRPEALAKSPCPSPGIRRGSENSSSEGGALR
RGPYRRAKSEMSESRQGRGSAGEEEESLAILRRHVMSELLDTERAYVEELLCVLEGYAAE
MDNPLMAHLLSTGLHNKKDVLFGNMEEIYHFHNRIFLRELENYTDCPELVGRCFLERMED
FQIYEKYCQNKPRSESLWRQCSDCPFFQECQRKLDHKLSLDSYLLKPVQRITKYQLLLKE
MLKYSRNCEGAEDLQEALSSILGILKAVNDSMHLIAITGYDGNLGDLGKLLMQGSFSVWT
DHKRGHTKVKELARFKPMQRHLFLHEKAVLFCKKREENGEGYEKAPSYSYKQSLNMAAVG
ITENVKGDAKKFEIWYNAREEVYIVQAPTPEIKAAWVNEIRKVLTSQLQACREASQHRAL
EQSQSLPLPAPTSTSPSRGNSRNIKKLEERKTDPLSLEGYVSSAPLTKPPEKGKGWSKTS
HSLEAPEDDGGWSSAEEQINSSDAEEDGGLGPKKLVPGKYTVVADHEKGGPDALRVRSGD
VVELVQEGDEGLWYVRDPTTGKEGWVPASSLSVRLGPSGSAQCLSSSGKAHVPRAHP
Sequence length 1137
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
Associated diseases
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29212778
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 21871595
Unknown
Disease name Disease term dbSNP ID References
Cardiovascular diseases Cardiovascular Diseases 30595370

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