Gene Gene information from NCBI Gene database.
Entrez ID 245806
Gene name Vestigial like family member 2
Gene symbol VGLL2
Synonyms (NCBI Gene)
VGL2VITO1
Chromosome 6
Chromosome location 6q22.1
Summary This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants en
miRNA miRNA information provided by mirtarbase database.
119
miRTarBase ID miRNA Experiments Reference
MIRT552960 hsa-miR-1277-5p HITS-CLIP 23313552
MIRT552958 hsa-miR-1295b-5p HITS-CLIP 23313552
MIRT552957 hsa-miR-1912 HITS-CLIP 23313552
MIRT552956 hsa-miR-3130-5p HITS-CLIP 23313552
MIRT552955 hsa-miR-4482-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0003713 Function Transcription coactivator activity IEA
GO:0005515 Function Protein binding IPI 25416956
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609979 20232 ENSG00000170162
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N8G2
Protein name Transcription cofactor vestigial-like protein 2 (Vgl-2) (Protein VITO1)
Protein function May act as a specific coactivator for the mammalian TEFs. May play a role in the development of skeletal muscles.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07545 Vg_Tdu 79 109 Vestigial/Tondu family Family
Tissue specificity TISSUE SPECIFICITY: Skeletal muscle. {ECO:0000269|PubMed:12617818}.
Sequence
MSCLDVMYQVYGPPQPYFAAAYTPYHQKLAYYSKMQEAQECNASPSSSGSGSSSFSSQTP
ASIKEEEGSPEKERPPEAEYINSRCVLFTYFQGDISSVVDEHFSRALSQPSSYSPSCTSS
KAPRSSGPWRDCSFPMSQRSFPASFWNSAYQAPVPPPLGSPLATAHSELPFAAADPYSPA
ALHGHLHQGATEPWHHAHPHHAHPHHPYALGGALGAQAAPYPRPAAVHEVYAPHFDPRYG
PLLMPAASGRPARLATAPAPAPGSPPCELSGKGEPAGAAWAGPGGPFASPSGDVAQGLGL
SVDSARRYSLCGASLLS
Sequence length 317
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA CTD
★★☆☆☆
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
Carcinoma Carcinoma Pubtator 26501226, 30181563, 32087612, 34067464, 35452896, 38607246 Associate
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma CTD_human_DG 22535842
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma Rhabdomyosarcoma BEFREE 31696361
★☆☆☆☆
Found in Text Mining only
Rhabdomyosarcoma Rhabdomyosarcoma Pubtator 38607246 Associate
★☆☆☆☆
Found in Text Mining only