Reviewed, UniProtKB/Swiss-Prot Q6U949 (IG2AS_HUMAN)

Names and origin

Protein names

Recommended name:
    Putative insulin-like growth factor 2 antisense gene protein
      Short name=IGF2-AS
Alternative name(s):
    PEG8/IGF2AS protein

Gene names

Name:

IGF2AS

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	168 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Involvement in disease	Overexpressed in Wilms' tumor samples.
Sequence caution	The sequence BAA90470.1 differs from that shown. Reason: Frameshift at position 162.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 168	168	Putative insulin-like growth factor 2 antisense gene protein		PRO_0000076224
Natural variations
	Natural variant	106	1	S → I		VAR_024844
	Natural variant	112	1	P → T		VAR_024845
	Natural variant	125	1	F → V		VAR_024846
	Natural variant	150	1	T → A		VAR_024847
Experimental info
	Sequence conflict	163	1	P → T in BAA90470. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q6U949-1 [UniParc]. Last modified February 20, 2007. Version 2. Checksum: 4641D52BCBFE64D2	FASTA	168	18,035
	10 20 30 40 50 60 MSKRKWRGFR GAQQERAQPP AASPQPCPAP HAGLPGGSRR RAPAPAGQQQ MRAESRSGAQ 70 80 90 100 110 120 RRRGSARRGA HREAGGCVRG RTRSSGSERS NALWQAVDAA EALALSSPLR RPWDQAQHFT 130 140 150 160 NPAPFSKGPQ SAPPSPPAGR RRRGADLALT PLAGEGHTRW RQPGRPGK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Expression and imprinting status of human PEG8/IGF2AS, a paternally expressed antisense transcript from the IGF2 locus, in Wilms' tumors." Okutsu T., Kuroiwa Y., Kagitani F., Kai M., Aisaka K., Tsutsumi O., Kaneko Y., Yokomori K., Surani M.A., Kohda T., Kaneko-Ishino T., Ishino F. J. Biochem. 127:475-483(2000) [PubMed: 10731720] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-125 AND ALA-150. Tissue: Kidney.
[2]	"Loss of imprinting of IGF2 sense and antisense transcripts in Wilms' tumor." Vu T.H., Chuyen N.V., Li T., Hoffman A.R. Cancer Res. 63:1900-1905(2003) [PubMed: 12702581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-125 AND ALA-150.
[3]	SeattleSNPs program for genomic applications Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-106; THR-112; VAL-125 AND ALA-150.
[4]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
+	Additional computationally mapped references.

Web resources

SeattleSNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB030733 mRNA. Translation: BAA90470.1. Frameshift. AY149295 mRNA. Translation: AAP50262.1. AY375532 Genomic DNA. Translation: AAQ86595.1. AC132217 Genomic DNA. No translation available. BC142634 mRNA. Translation: AAI42635.1. BC142691 mRNA. Translation: AAI42692.1.
PIR	JC7217.
RefSeq	NP_057496.2.
UniGene	Hs.272259
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000099869. Homo sapiens. [Contig view]
GeneID	51214.
KEGG	hsa:51214.
Organism-specific databases
HGNC	HGNC:14062. IGF2AS.
MIM	610146. gene.
PharmGKB	PA29700.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q6U949.
Gene expression databases
ArrayExpress	Q6U949.
CleanEx	HS_IGF2AS.
GermOnline	ENSG00000099869. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	54288.
SOURCE	Search...

Entry information

Entry name

IG2AS_HUMAN

Accession

Primary (citable) accession number: Q6U949
Secondary accession number(s): A5PKV8 , A6NNQ2, Q7Z712, Q9P2W0

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 10, 2006
Last sequence update:	February 20, 2007
Last modified:	November 4, 2008
This is version 29 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)