Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
345930
Gene name Gene Name - the full gene name approved by the HGNC.
Epithelial cell transforming 2 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ECT2L
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGEF32, C6orf91, FBXO49, LFDH, dJ509I19.2, dJ509I19.3, dJ509I19.5
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.1
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID 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
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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
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 36344993
Neoplasms Associate 30865299
Precursor T Cell Lymphoblastic Leukemia Lymphoma Associate 22237106
Spastic Paraplegia Hereditary Associate 36344993