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Protein

Homeobox protein goosecoid-2

Gene

GSC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi126 – 18560HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: ProtInc
  2. sequence-specific DNA binding Source: InterPro
  3. sequence-specific DNA binding transcription factor activity Source: MGI

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. regulation of transcription from RNA polymerase II promoter Source: MGI
Complete GO annotation...

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein goosecoid-2
Short name:
GSC-2
Alternative name(s):
Homeobox protein goosecoid-like
Short name:
GSC-L
Gene namesi
Name:GSC2
Synonyms:GSCL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:4613. GSC2.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162390265.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 205205Homeobox protein goosecoid-2PRO_0000048891Add
BLAST

Proteomic databases

PaxDbiO15499.
PRIDEiO15499.

Expressioni

Tissue specificityi

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

Developmental stagei

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

Gene expression databases

BgeeiO15499.
CleanExiHS_GSC2.
GenevestigatoriO15499.

Organism-specific databases

HPAiHPA043011.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000086933.

Structurei

3D structure databases

ProteinModelPortaliO15499.
SMRiO15499. Positions 127-189.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2 – 54Poly-Ala
Compositional biasi64 – 707Poly-Cys

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG244876.
GeneTreeiENSGT00760000118908.
HOGENOMiHOG000112823.
HOVERGENiHBG005922.
InParanoidiO15499.
KOiK09325.
OMAiCPFSIEH.
OrthoDBiEOG78SQKS.
PhylomeDBiO15499.
TreeFamiTF351613.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O15499-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MAAAAGGAAS RRGAGRPCPF SIEHILSSLP ERSLPARAAC PPQPAGRQSP
60 70 80 90 100
AKPEEPGAPE AAPCACCCCC GPRAAPCGPP EAAAGLGARL AWPLRLGPAV
110 120 130 140 150
PLSLGAPAGG SGALPGAVGP GSQRRTRRHR TIFSEEQLQA LEALFVQNQY
160 170 180 190 200
PDVSTRERLA GRIRLREERV EVWFKNRRAK WRHQKRASAS ARLLPGVKKS

PKGSC
Length:205
Mass (Da):21,545
Last modified:January 1, 1998 - v1
Checksum:i665C33D9C454E7A7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471R → C.1 Publication
Corresponds to variant rs34341950 [ dbSNP | Ensembl ].
VAR_008549

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U96402 Genomic DNA. Translation: AAC39544.1.
CCDSiCCDS13757.1.
RefSeqiNP_005306.1. NM_005315.1.
UniGeneiHs.534318.

Genome annotation databases

EnsembliENST00000086933; ENSP00000086933; ENSG00000063515.
GeneIDi2928.
KEGGihsa:2928.
UCSCiuc011ags.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U96402 Genomic DNA. Translation: AAC39544.1.
CCDSiCCDS13757.1.
RefSeqiNP_005306.1. NM_005315.1.
UniGeneiHs.534318.

3D structure databases

ProteinModelPortaliO15499.
SMRiO15499. Positions 127-189.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000086933.

Proteomic databases

PaxDbiO15499.
PRIDEiO15499.

Protocols and materials databases

DNASUi2928.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000086933; ENSP00000086933; ENSG00000063515.
GeneIDi2928.
KEGGihsa:2928.
UCSCiuc011ags.2. human.

Organism-specific databases

CTDi2928.
GeneCardsiGC22M019136.
HGNCiHGNC:4613. GSC2.
HPAiHPA043011.
MIMi601845. gene.
neXtProtiNX_O15499.
PharmGKBiPA162390265.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG244876.
GeneTreeiENSGT00760000118908.
HOGENOMiHOG000112823.
HOVERGENiHBG005922.
InParanoidiO15499.
KOiK09325.
OMAiCPFSIEH.
OrthoDBiEOG78SQKS.
PhylomeDBiO15499.
TreeFamiTF351613.

Miscellaneous databases

GenomeRNAii2928.
NextBioi11607.
PROiO15499.
SOURCEiSearch...

Gene expression databases

BgeeiO15499.
CleanExiHS_GSC2.
GenevestigatoriO15499.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  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].

Entry informationi

Entry nameiGSC2_HUMAN
AccessioniPrimary (citable) accession number: O15499
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: January 1, 1998
Last modified: January 7, 2015
This is version 116 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.