Gene Gene information from NCBI Gene database.
Entrez ID 345930
Gene name Epithelial cell transforming 2 like
Gene symbol ECT2L
Synonyms (NCBI Gene)
ARHGEF32C6orf91FBXO49LFDHdJ509I19.2dJ509I19.3dJ509I19.5
Chromosome 6
Chromosome location 6q24.1
miRNA miRNA information provided by mirtarbase database.
156
miRTarBase ID miRNA Experiments Reference
MIRT951858 hsa-miR-1297 CLIP-seq
MIRT951859 hsa-miR-1305 CLIP-seq
MIRT951860 hsa-miR-26a CLIP-seq
MIRT951861 hsa-miR-26b CLIP-seq
MIRT951862 hsa-miR-4465 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q008S8
Protein name Epithelial cell-transforming sequence 2 oncogene-like (Lung-specific F-box and DH domain-containing protein) (Putative guanine nucleotide exchange factor LFDH)
Protein function May act as a guanine nucleotide exchange factor (GEF).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12937 F-box-like 79 124 F-box-like Domain
PF14252 DUF4347 290 460 Domain of unknown function (DUF4347) Family
PF00621 RhoGEF 570 752 RhoGEF domain Domain
Sequence
MESFHTRFSAWTPFSNKSLNRQLFQERVALISHWFDLWTNKQRQEFLFAIFLRCTKSQLR
FVQDWFSERMQVAKVDFSTVLPRFISLYIFSFLSPKDLCAAAQVSWPWKFLTEQDCLWMP
KCVK
FGWFLPYTPTDNEYGAWKRHYIACVSHLDWLTPREAAATYGTLNEPKTEDEELLER
QREKCLRKRIWEKIALRKKELFKVRPPWVSGTCCSSVLKPRCQPRLSQTVRERVGLHEAL
EKQLVLTSLETLPKRSNISGSHSYPLLSKKNWHGVHKNDDRSSYALRPHFMLISSRIPAY
EMVMESVKAGVVSVVYEHSVTLESLLYLIEKALDGQKAQSIGIFSDGDSREINLLQGYKI
GVKNLLRPEVRDFWEKLGSYVATEEEGGHVDFFVPLGASEAGIEVLSQLSQLTGTFFTAP
TGIATGSYQHILSDWLGSQWGKAPSSIYFCESKLQTWSSF
TDFLEETLKTVRKQLYPFFK
ELQKSISGRMIGQFMFDTMGMTNILNNQDTAQALADGLMELSKEDSERNVVEDNSWDTKS
RLSKNDLNFEALINLERILQKDSAEKRARVVRELLQSERKYVQILEIVRDVYVAPLKAAL
SSNRAILSAANIQIIFCDILQILSLNRQFLDNLRDRLQEWGPAHCVGEIVTKFGSQLNTY
TNFFNNYPVILKTIEKCREMIPAFRTFLKRHDKTIVTKMLSLPELLLYPSRRFEEYLNLL
YAVRLHTPAEHVDRGDLTTAIDQIKKYKGYID
QMKQNITMKDHLSDIQRIIWGCPTLSEV
NRYLIRVQDVAQLHCCDEEISFSLRLYEHIHDLSLFLFNDALLVSSRGTSHTPFERTSKT
TYQFIASVALHRLLIENIPDSKYVKNAFILQGPKYKWICATEIEDDKFLWLSVLRNAIKS
SMEK
Sequence length 904
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
Cholangiocarcinoma not provided ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma not provided ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM GWAS catalog
★★☆☆☆
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
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 26621817
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36344993 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASCAT_DG 26621817
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal Neoplasms GWASCAT_DG 26621817
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial Neoplasms GWASCAT_DG 26621817
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of large intestine Colorectal Neoplasms GWASCAT_DG 26621817
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms GWASCAT_DG 26621817
★☆☆☆☆
Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Lymphoblastic Leukemia CGI_DG
★☆☆☆☆
Found in Text Mining only
Spastic Paraplegia Hereditary Hereditary spastic paraplegia Pubtator 36344993 Associate
★☆☆☆☆
Found in Text Mining only