Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

O15499 (GSC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 113. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein goosecoid-2

Short name=GSC-2
Alternative name(s):
Homeobox protein goosecoid-like
Short name=GSC-L
Gene names
Name:GSC2
Synonyms:GSCL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length205 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC.

Subcellular location

Nucleus By similarity.

Tissue specificity

Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels.

Developmental stage

Expressed in early human development as well as in a limited number of adult tissues.

Sequence similarities

Belongs to the paired homeobox family. Bicoid subfamily.

Contains 1 homeobox DNA-binding domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 205205Homeobox protein goosecoid-2
PRO_0000048891

Regions

DNA binding126 – 18560Homeobox
Compositional bias2 – 54Poly-Ala
Compositional bias64 – 707Poly-Cys

Natural variations

Natural variant471R → C. Ref.1
Corresponds to variant rs34341950 [ dbSNP | Ensembl ].
VAR_008549

Sequences

Sequence LengthMass (Da)Tools
O15499 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 665C33D9C454E7A7

FASTA20521,545
        10         20         30         40         50         60 
MAAAAGGAAS RRGAGRPCPF SIEHILSSLP ERSLPARAAC PPQPAGRQSP AKPEEPGAPE 

        70         80         90        100        110        120 
AAPCACCCCC GPRAAPCGPP EAAAGLGARL AWPLRLGPAV PLSLGAPAGG SGALPGAVGP 

       130        140        150        160        170        180 
GSQRRTRRHR TIFSEEQLQA LEALFVQNQY PDVSTRERLA GRIRLREERV EVWFKNRRAK 

       190        200 
WRHQKRASAS ARLLPGVKKS PKGSC 

« Hide

References

[1]"Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11."
Funke B., St Jore B., Puech A., Sirotkin H., Edelmann L., Carlson C., Raft S., Pandita R.K., Kucherlapati R., Skoultchi A., Morrow B.E.
Genomics 46:364-372(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT CYS-47.
[2]"The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development."
Gottlieb S., Emanuel B.S., Driscoll D.A., Sellinger B., Wang Z., Roe B., Budarf M.L.
Am. J. Hum. Genet. 60:1194-1201(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U96402 Genomic DNA. Translation: AAC39544.1.
CCDSCCDS13757.1.
RefSeqNP_005306.1. NM_005315.1.
UniGeneHs.534318.

3D structure databases

ProteinModelPortalO15499.
SMRO15499. Positions 127-189.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000086933.

Proteomic databases

PaxDbO15499.
PRIDEO15499.

Protocols and materials databases

DNASU2928.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000086933; ENSP00000086933; ENSG00000063515.
ENST00000595458; ENSP00000471256; ENSG00000267876.
GeneID2928.
KEGGhsa:2928.
UCSCuc011ags.2. human.

Organism-specific databases

CTD2928.
GeneCardsGC22M019136.
HGNCHGNC:4613. GSC2.
HPAHPA043011.
MIM601845. gene.
neXtProtNX_O15499.
PharmGKBPA162390265.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG244876.
HOGENOMHOG000112823.
HOVERGENHBG005922.
InParanoidO15499.
KOK09325.
OMACPFSIEH.
OrthoDBEOG78SQKS.
PhylomeDBO15499.
TreeFamTF351613.

Gene expression databases

BgeeO15499.
CleanExHS_GSC2.
GenevestigatorO15499.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi2928.
NextBio11607.
PROO15499.
SOURCESearch...

Entry information

Entry nameGSC2_HUMAN
AccessionPrimary (citable) accession number: O15499
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: July 9, 2014
This is version 113 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM