Reviewed, UniProtKB/Swiss-Prot O15499 (GSC2_HUMAN)

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	205 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	anatomical structure morphogenesis Ref.2 Traceable author statement. Source: ProtInc regulation of transcription from RNA polymerase II promoter Ref.1 Inferred from direct assay. Source: MGI
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro transcription factor activity Ref.1 Inferred from direct assay. Source: MGI
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 205	205	Homeobox protein goosecoid-2		PRO_0000048891
Regions
	DNA binding	126 – 185	60	Homeobox
	Compositional bias	2 – 5	4	Poly-Ala
	Compositional bias	64 – 70	7	Poly-Cys
Natural variations
	Natural variant	47	1	R → C: dbSNP rs34341950. Ref.1		VAR_008549

Sequences

	Sequence		Length	Mass (Da)
	O15499-1 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 665C33D9C454E7A7	FASTA	205	21,545
	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

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: 9441739] [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: 9150167] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].

Cross-references

Sequence databases
EMBL GenBank DDBJ	U96402 Genomic DNA. Translation: AAC39544.1.
IPI	IPI00006760.
RefSeq	NP_005306.1.
UniGene	Hs.534318
3D structure databases
SMR	O15499. Positions 127-189.
ModBase	Search...
Protein-protein interaction databases
STRING	O15499.
Proteomic databases
PRIDE	O15499.
Genome annotation databases
Ensembl	ENST00000086933; ENSP00000086933; ENSG00000063515; Homo sapiens. [Genome view]
GeneID	2928.
KEGG	hsa:2928.
UCSC	uc002zox.1. human.
Organism-specific databases
CTD	2928.
GeneCards	GC22M017516.
HGNC	HGNC:4613. GSC2.
MIM	601845. gene.
PharmGKB	PA29005.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG125479.
HOVERGEN	HBG005922.
InParanoid	O15499.
OMA	CPFSIEH.
OrthoDB	EOG9MGVSR.
PhylomeDB	O15499.
Gene expression databases
ArrayExpress	O15499.
CleanEx	HS_GSC2.
Genevestigator	O15499.
GermOnline	ENSG00000063515. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR017970. Homeobox_CS. IPR009057. Homeodomain-like. IPR012287. Homeodomain-rel. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	11607.
SOURCE	Search...

Entry information

Entry name

GSC2_HUMAN

Accession

Primary (citable) accession number: O15499

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	January 1, 1998
Last modified:	March 2, 2010
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.