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VGLL2 vestigial like family member 2 [ Homo sapiens (human) ]

Gene ID: 245806, updated on 13-Mar-2020

Summary

Official Symbol
VGLL2provided by HGNC
Official Full Name
vestigial like family member 2provided by HGNC
Primary source
HGNC:HGNC:20232
See related
Ensembl:ENSG00000170162 MIM:609979
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VGL2; VITO1
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 encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]
Expression
Biased expression in heart (RPKM 1.5), prostate (RPKM 0.6) and 4 other tissues See more
Orthologs

Genomic context

See VGLL2 in Genome Data Viewer
Location:
6q22.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (117265558..117273565)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (117586721..117594728)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 214 Neighboring gene uncharacterized LOC105377964 Neighboring gene RN7SK pseudogene 18 Neighboring gene RN7SK pseudogene 51 Neighboring gene ROS proto-oncogene 1, receptor tyrosine kinase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
transcription cofactor vestigial-like protein 2
Names
Vestigial and Tondu related protein 1
vestigial like 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_153453.1NP_703154.1  transcription cofactor vestigial-like protein 2 isoform 2

    See identical proteins and their annotated locations for NP_703154.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AY056583
    Consensus CDS
    CCDS5114.1
    UniProtKB/Swiss-Prot
    Q8N8G2
    Related
    ENSP00000305405.5, ENST00000352536.7
    Conserved Domains (1) summary
    pfam07545
    Location:79109
    Vg_Tdu; Vestigial/Tondu family
  2. NM_182645.3NP_872586.1  transcription cofactor vestigial-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_872586.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AJ578053, AY056583
    Consensus CDS
    CCDS5115.1
    UniProtKB/Swiss-Prot
    Q8N8G2
    Related
    ENSP00000320957.5, ENST00000326274.6
    Conserved Domains (1) summary
    pfam07545
    Location:79109
    Vg_Tdu; Vestigial/Tondu family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    117265558..117273565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266883.2XP_005266940.1  transcription cofactor vestigial-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005266940.1

    Conserved Domains (1) summary
    pfam07545
    Location:79109
    Vg_Tdu; Vestigial/Tondu family
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