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    GSC goosecoid homeobox [ Homo sapiens (human) ]

    Gene ID: 145258, updated on 27-Nov-2024

    Summary

    Official Symbol
    GSCprovided by HGNC
    Official Full Name
    goosecoid homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:4612
    See related
    Ensembl:ENSG00000133937 MIM:138890; AllianceGenome:HGNC:4612
    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
    GSC1; SAMS
    Summary
    This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in fat (RPKM 1.7), brain (RPKM 0.2) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GSC in Genome Data Viewer
    Location:
    14q32.13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94768223..94770113, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88998287..89000177, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (95234560..95236450, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 59 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:95147830-95148378 Neighboring gene ribosomal protein SA pseudogene 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_38793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:95234013-95234551 Neighboring gene GSC divergent transcript Neighboring gene ribosomal protein L15 pseudogene 2

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in forebrain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gastrulation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in middle ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in muscle organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural crest cell fate specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in signal transduction involved in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_034111.1 RefSeqGene

      Range
      5050..6940
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173849.3NP_776248.1  homeobox protein goosecoid

      See identical proteins and their annotated locations for NP_776248.1

      Status: REVIEWED

      Source sequence(s)
      AY177407
      Consensus CDS
      CCDS9930.1
      UniProtKB/Swiss-Prot
      P56915, Q86YR1
      Related
      ENSP00000238558.3, ENST00000238558.5
      Conserved Domains (1) summary
      pfam00046
      Location:163216
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      94768223..94770113 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      88998287..89000177 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)