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VGLL4 vestigial like family member 4 [ Homo sapiens (human) ]

Gene ID: 9686, updated on 24-Nov-2020

Summary

Official Symbol
VGLL4provided by HGNC
Official Full Name
vestigial like family member 4provided by HGNC
Primary source
HGNC:HGNC:28966
See related
Ensembl:ENSG00000144560 MIM:618692
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VGL-4
Expression
Ubiquitous expression in ovary (RPKM 26.1), thyroid (RPKM 18.5) and 25 other tissues See more
Orthologs

Genomic context

See VGLL4 in Genome Data Viewer
Location:
3p25.3-p25.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (11556067..11720715, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (11597543..11762220, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene histamine receptor H1 Neighboring gene Sharpr-MPRA regulatory region 13806 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 4 Neighboring gene autophagy related 7 Neighboring gene uncharacterized LOC105376952 Neighboring gene TAM41 mitochondrial translocator assembly and maintenance homolog Neighboring gene FANCD2 pseudogene 2 Neighboring gene CYCS pseudogene 12

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

Associated conditions

Description Tests
A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.
GeneReviews: Not available
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
GeneReviews: Not available
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0121

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
negative regulation of Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of hippo signaling IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of hippo signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cellular protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
transcription cofactor vestigial-like protein 4
Names
Vestigial-like 4
vestigial like 4

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_001128219.3NP_001121691.1  transcription cofactor vestigial-like protein 4 isoform a

    See identical proteins and their annotated locations for NP_001121691.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    BU682809, D50911, DA383197, DA386938, DR159250
    Consensus CDS
    CCDS46754.1
    UniProtKB/Swiss-Prot
    Q14135
    UniProtKB/TrEMBL
    G5E9M7
    Related
    ENSP00000404251.2, ENST00000430365.7
    Conserved Domains (2) summary
    smart00711
    Location:240255
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:14230
    VGLL4; Transcription cofactor vestigial-like protein 4
  2. NM_001128220.3NP_001121692.1  transcription cofactor vestigial-like protein 4 isoform c

    See identical proteins and their annotated locations for NP_001121692.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK307708, BU682809, D50911
    Consensus CDS
    CCDS46755.1
    UniProtKB/Swiss-Prot
    Q14135
    Related
    ENSP00000416615.2, ENST00000451674.6
    Conserved Domains (2) summary
    smart00711
    Location:154169
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:6144
    VGLL4; Transcription cofactor vestigial-like protein 4
  3. NM_001128221.3NP_001121693.1  transcription cofactor vestigial-like protein 4 isoform d

    See identical proteins and their annotated locations for NP_001121693.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK308761, BU682809, D50911
    Consensus CDS
    CCDS46756.1
    UniProtKB/Swiss-Prot
    Q14135
    Related
    ENSP00000402878.2, ENST00000424529.6
    Conserved Domains (2) summary
    smart00711
    Location:150165
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:1140
    VGLL4; Transcription cofactor vestigial-like protein 4
  4. NM_001284390.2NP_001271319.1  transcription cofactor vestigial-like protein 4 isoform e

    See identical proteins and their annotated locations for NP_001271319.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (e) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    BC000763, BU682809, D50911, DA383197
    Consensus CDS
    CCDS68343.1
    UniProtKB/Swiss-Prot
    Q14135
    UniProtKB/TrEMBL
    A0A0A6YYI5
    Related
    ENSP00000413030.2, ENST00000426568.5
    Conserved Domains (2) summary
    smart00711
    Location:239254
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:27229
    VGLL4; Transcription cofactor vestigial-like protein 4
  5. NM_001284391.1NP_001271320.1  transcription cofactor vestigial-like protein 4 isoform f

    See identical proteins and their annotated locations for NP_001271320.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (f) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC022001, AI809612, AK300344, BU682809, D50911, DA383197
    Consensus CDS
    CCDS68342.1
    UniProtKB/Swiss-Prot
    Q14135
    UniProtKB/TrEMBL
    G5E9M9
    Related
    ENSP00000404624.1, ENST00000413604.5
    Conserved Domains (2) summary
    smart00711
    Location:175190
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:1165
    VGLL4; Transcription cofactor vestigial-like protein 4
  6. NM_014667.4NP_055482.2  transcription cofactor vestigial-like protein 4 isoform b

    See identical proteins and their annotated locations for NP_055482.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains alternate 5' exon structure and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK130542, BU682809, D50911, DA383197
    Consensus CDS
    CCDS2606.1
    UniProtKB/Swiss-Prot
    Q14135
    UniProtKB/TrEMBL
    A0A075B6E4
    Related
    ENSP00000273038.3, ENST00000273038.7
    Conserved Domains (2) summary
    smart00711
    Location:234249
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:8223
    VGLL4; Transcription cofactor vestigial-like protein 4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    11556067..11720715 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007542.1XP_016863031.1  transcription cofactor vestigial-like protein 4 isoform X5

    Related
    ENSP00000412923.1, ENST00000445411.5
    Conserved Domains (1) summary
    pfam15245
    Location:8204
    VGLL4; Transcription cofactor vestigial-like protein 4
  2. XM_024453835.1XP_024309603.1  transcription cofactor vestigial-like protein 4 isoform X3

    Conserved Domains (2) summary
    smart00711
    Location:234249
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:8223
    VGLL4; Transcription cofactor vestigial-like protein 4
  3. XM_024453837.1XP_024309605.1  transcription cofactor vestigial-like protein 4 isoform X5

    Related
    ENSP00000394439.1, ENST00000418000.5
    Conserved Domains (1) summary
    pfam15245
    Location:8204
    VGLL4; Transcription cofactor vestigial-like protein 4
  4. XM_017007541.1XP_016863030.1  transcription cofactor vestigial-like protein 4 isoform X1

    UniProtKB/TrEMBL
    A0A0A6YYI5
    Conserved Domains (2) summary
    smart00711
    Location:239254
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:27229
    VGLL4; Transcription cofactor vestigial-like protein 4
  5. XM_011534267.2XP_011532569.1  transcription cofactor vestigial-like protein 4 isoform X2

    Conserved Domains (2) summary
    smart00711
    Location:235250
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:23225
    VGLL4; Transcription cofactor vestigial-like protein 4
  6. XM_024453836.1XP_024309604.1  transcription cofactor vestigial-like protein 4 isoform X3

    Conserved Domains (2) summary
    smart00711
    Location:234249
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:8223
    VGLL4; Transcription cofactor vestigial-like protein 4
  7. XM_011534269.1XP_011532571.1  transcription cofactor vestigial-like protein 4 isoform X4

    See identical proteins and their annotated locations for XP_011532571.1

    UniProtKB/TrEMBL
    G5E9M9
    Conserved Domains (2) summary
    smart00711
    Location:175190
    TDU; Short repeats in human TONDU, fly vestigial and other proteins
    pfam15245
    Location:1165
    VGLL4; Transcription cofactor vestigial-like protein 4
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