Gene Gene information from NCBI Gene database.
Entrez ID 23101
Gene name MCF.2 cell line derived transforming sequence-like 2
Gene symbol MCF2L2
Synonyms (NCBI Gene)
ARHGEF22
Chromosome 3
Chromosome location 3q27.1
miRNA miRNA information provided by mirtarbase database.
487
miRTarBase ID miRNA Experiments Reference
MIRT694441 hsa-miR-508-5p HITS-CLIP 23313552
MIRT694440 hsa-miR-25-3p HITS-CLIP 23313552
MIRT694439 hsa-miR-32-5p HITS-CLIP 23313552
MIRT694438 hsa-miR-363-3p HITS-CLIP 23313552
MIRT694437 hsa-miR-367-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005737 Component Cytoplasm IBA
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619946 30319 ENSG00000053524
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86YR7
Protein name Probable guanine nucleotide exchange factor MCF2L2 (Dbs-related Rho family guanine nucleotide exchange factor) (MCF2-transforming sequence-like protein 2)
Protein function Probably functions as a guanine nucleotide exchange factor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13716 CRAL_TRIO_2 60 194 Divergent CRAL/TRIO domain Domain
PF00621 RhoGEF 623 820 RhoGEF domain Domain
Tissue specificity TISSUE SPECIFICITY: Significantly expressed in brain and modestly in pancreas, brain and testis. {ECO:0000269|PubMed:18259684}.
Sequence
MLSCLKEEMPPQELTRRLATVITHVDEIMQQEVRPLMAVEIIEQLHRQFAILSGGRGEDG
APIITFPEFSGFKHIPDEDFLNVMTYLTSIPSVEAASIGFIVVIDRRRDKWSSVKASLTR
IAVAFPGNLQLIFILRPSRFIQRTFTDIGIKYYRNEFKTKVPIIMVNSVSDLHGYIDKSQ
LTRELGGTLEYRHG
QWVNHRTAIENFALTLKTTAQMLQTFGSCLATAELPRSMLSTEDLL
MSHTRQRDKLQDELKLLGKQGTTLLSCIQEPATKCPNSKLNLNQLENVTTMERLLVQLDE
TEKAFSHFWSEHHLKLNQCLQLQHFEHDFCKAKLALDNLLEEQAEFTGIGDSVMHVEQIL
KEHKKLEEKSQEPLEKAQLLALVGDQLIQSHHYAADAIRPRCVELRHLCDDFINGNKKKW
DILGKSLEFHRQLDKVSQWCEAGIYLLASQAVDKCQSREGVDIALNDIATFLGTVKEYPL
LSPKEFYNEFELLLTLDAKAKAQKVLQRLDDVQEIFHKRQVSLMKLAAKQTRPVQPVAPH
PESSPKWVSSKTSQPSTSVPLARPLRTSEEPYTETELNSRGKEDDETKFEVKSEEIFESH
HERGNPELEQQARLGDLSPRRRIIRDLLETEEIYIKEIKSIIDGYITPMDFIWLKHLIPD
VLQNNKDFLFGNIRELYEFHNRTFLKELEKCAENPELLAHCFLKRKEDLQIYFKYHKNLP
RARAIWQECQDCAYFGVCQRQLDHNLPLFKYLKGPSQRLIKYQMLLKGLLDFESPEDMEI
DPGELGGSAKDGPKRTKDSAFSTELQQALAVIEDLIKSCE
LAVDLAAVTECPDDIGKLGK
LLLHGPFSVWTIHKDRYKMKDLIRFKPSQRQIYLFERGIVFCKIRMEPGDQGLSPHYSFK
KTMKLMTLSIRQLGRGSHRKFEIASRNGLEKYILQAASKEIRDCWFSEISKLLMEQQNNI
KDQGNPQFEMSTSKGSGAGSGPWIKNMERATTSKEDPASSTGGIKGCSSREFSSMDTFED
CEGAEDMEKESSALSLAGLFQSDDSHETCSSKSAFLERGESSQGEKEERDEEETATRSTE
EERAGASTGRLAPAGATAGFQARALRPRTSAQES
Sequence length 1114
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 3 Disgenet
★★☆☆☆
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
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 30745030
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28845052
★☆☆☆☆
Found in Text Mining only
Choroid Plexus Papilloma Choroid Plexus Papilloma BEFREE 30067887
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 30065662
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis BEFREE 29474860
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 31601968
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 20667095 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus BEFREE 20667095
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Diabetic neuropathy Pubtator 20667095 Associate
★☆☆☆☆
Found in Text Mining only