GSC2:Homeobox protein goosecoid-2

Gene Name
Homeobox protein goosecoid-2
Protein ID
O15499
Chromosome ID
22
HPP Status
2
Protein Name
Homeobox protein goosecoid-2
Synonyms

GSC-L

homeobox protein goosecoid-2

Homeobox protein goosecoid-like

GSC-2

GSCL

goosecoid-like

goosecoid homeobox 2


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSC2 ]
Chromosomal Position
22q11.21 | Start:19148576 End:19148576
Sequence
O15499.fasta
Description

Entrez Gene Summary for GSC2
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)

UniProtKB Summary for GSC2
Function: May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSC2 ]
External IDs
Hgnc ID: 4613 EntrezGene ID: 2928 Ensembl ID: ENSG00000063515
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=GSC2 ]
Reference Source
http://www.nextprot.org

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


Sequence Similarity

Db NameQuery UniSubject UniSequence LengthAlignment LengthIdentityCoverageMismatchesGap OpeningsQuery StartQuery EndSubject StartSubject EndEvalueBit Score
Reviewed non-human mammalian with experimental evidenceGSC2_HUMANDRGX_MOUSE2057655.2637.07321124199311042E-1889
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

InterProScan Annotation

Uniprot IDInterpro IDGo IDTypeNameCategoryDescription
GSC2_HUMANIPR001356GO:0003700DomainHomeobox domainMolecular Functionsequence-specific DNA binding transcription factor activity
GSC2_HUMANIPR001356GO:0043565DomainHomeobox domainMolecular Functionsequence-specific DNA binding
GSC2_HUMANIPR009057GO:0003677DomainHomeodomain-likeMolecular FunctionDNA binding
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




PRIDE

Peptide SequenceScoresPride IDSpectrum IDAnnotation
No results found.
Evidence File
/mnt/mpp/ms_data/O15499_pridedb.txt
Reference
Vizcaino JA, et al. 2016 update of the PRIDE database and related tools. Nucleic Acids Res. 2016 Jan 1;44(D1):D447-D456.
https://www.ebi.ac.uk/pride/archive/ ">PRIDE Archive


Proteomics DB

Evidence File
/mnt/mpp/ms_data/O15499_protdb.txt
Reference
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7.
https://www.proteomicsdb.org/ ">Proteomics DB