Gene Gene information from NCBI Gene database.
Entrez ID 23263
Gene name MCF.2 cell line derived transforming sequence like
Gene symbol MCF2L
Synonyms (NCBI Gene)
ARHGEF14DBSOST
Chromosome 13
Chromosome location 13q34
Summary 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.
225
miRTarBase ID miRNA Experiments Reference
MIRT736677 hsa-miR-140-3p Luciferase reporter assayWestern blottingqRT-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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609499 14576 ENSG00000126217
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
APPENDICITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 30045751, 33069246 Associate
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 28320164
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 25898923
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 25898923
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 25898923 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 31089935
★☆☆☆☆
Found in Text Mining only
bilateral breast cancer Breast Cancer BEFREE 25409685
★☆☆☆☆
Found in Text Mining only
Bipolar II disorder Bipolar Disorder BEFREE 31581800
★☆☆☆☆
Found in Text Mining only
Blepharospasm Blepharospasm BEFREE 31078682
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19366686
★☆☆☆☆
Found in Text Mining only