Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23263
Gene name Gene Name - the full gene name approved by the HGNC.
MCF.2 cell line derived transforming sequence like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCF2L
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGEF14, DBS, OST
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q34
Summary Summary 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 multi
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT736677 hsa-miR-140-3p Luciferase reporter assay, Western blotting, qRT-PCR 31732956
MIRT1136833 hsa-miR-128 CLIP-seq
MIRT1136834 hsa-miR-148a CLIP-seq
MIRT1136835 hsa-miR-148b CLIP-seq
MIRT1136836 hsa-miR-152 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 15157669
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity TAS
GO:0005515 Function Protein binding IPI 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609499 14576 ENSG00000126217
Protein
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
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
FKFNRDDFKMKVPVIMLSSVPDLHGYIDKSQLTEDLGGTLDYCHS
RWLCQRTAIESFALM
VKQTAQMLQSFGTELAETELPNDVQSTSSVLCAHTEKKDKAKEDLRLALKEGHSVLESLR
ELQAEGSEPSVNQDQLDNQATVQRLLAQLNETEAAFDEFWAKHQQKLEQCLQLRHFEQGF
REVKAILDAASQKIATFTDIGNSLAHVEHLLRDLASFEEKSGVAVERARALSLDGEQLIG
NKHYAVDSIRPKCQELRHLCDQFSAEIARRRGLLSK
SLELHRRLETSMKWCDEGIYLLAS
QPVDKCQSQDGAEAALQEIEKFLETGAENKIQELNAIYKEYESILNQDLMEHVRKVFQKQ
ASMEEVFHRRQASLKKLAARQTRPVQPVAPRPEALAKSPCPSPGIRRGSENSSSEGGALR
RGPYRRAKSEMSESRQGRGSAGEEEESLAILRRHVMSELLDTERAYVEELLCVLEGYAAE
MDNPLMAHLLSTGLHNKKDVLFGNMEEIYHFHNRIFLRELENYTDCPELVGRCFLERMED
FQIYEKYCQNKPRSESLWRQCSDCPFFQECQRKLDHKLSLDSYLLKPVQRITKYQLLLKE
MLKYSRNCEGAEDLQEALSSILGILKAVN
DSMHLIAITGYDGNLGDLGKLLMQGSFSVWT
DHKRGHTKVKELARFKPMQRHLFLHEKAVLFCKKREENGEGYEKAPSYSYKQSLNMAAVG
ITENVKGDAKKFEIWYNAREEVYIVQAPTPEIKAAWVNEIRKVLT
SQLQACREASQHRAL
EQSQSLPLPAPTSTSPSRGNSRNIKKLEERKTDPLSLEGYVSSAPLTKPPEKGKGWSKTS
HSLEAPEDDGGWSSAEEQINSSDAEEDGGLGPKKLVPGKYTVVADHEKGGPDALRVRSGD
VVELVQEGDEGLWYVRDPTTGKEGWVPASSLSVR
LGPSGSAQCLSSSGKAHVPRAHP
Sequence length 1137
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Coronary artery disease Coronary artery disease N/A N/A GWAS
Dementia Dementia N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aging Premature Associate 37110517
Alzheimer Disease Associate 30045751, 33069246
Atherosclerosis Associate 25898923
Breast Neoplasms Associate 19366686, 25483302, 37110517
Cardiovascular Diseases Associate 25898923
Myocardial Infarction Associate 39748436
Neoplasms Associate 23555185, 25483302
Osteoarthritis Associate 25483302, 26584642
Osteoarthritis Knee Associate 22615457
Prostatic Neoplasms Associate 23555185