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GSC2 goosecoid homeobox 2 [ Homo sapiens (human) ]

Gene ID: 2928, updated on 11-Jun-2021

Summary

Official Symbol
GSC2provided by HGNC
Official Full Name
goosecoid homeobox 2provided by HGNC
Primary source
HGNC:HGNC:4613
See related
Ensembl:ENSG00000063515 MIM:601845
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
GSCL
Summary
Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See GSC2 in Genome Data Viewer
Location:
22q11.21
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19146993..19150292, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19134506..19137805, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ess-2 splicing factor homolog Neighboring gene testis specific serine kinase 2 Neighboring gene uncharacterized LOC112268297 Neighboring gene long intergenic non-protein coding RNA 1311 Neighboring gene solute carrier family 25 member 1

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

Phenotypes

Associated conditions

Description Tests
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
homeobox protein goosecoid-2

NCBI Reference Sequences (RefSeq)

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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_005315.2NP_005306.1  homeobox protein goosecoid-2

    See identical proteins and their annotated locations for NP_005306.1

    Status: REVIEWED

    Source sequence(s)
    AC004463
    Consensus CDS
    CCDS13757.1
    UniProtKB/Swiss-Prot
    O15499
    Related
    ENSP00000086933.2, ENST00000086933.3
    Conserved Domains (1) summary
    pfam00046
    Location:129182
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    19146993..19150292 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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