Reviewed, UniProtKB/Swiss-Prot O43822 (CU002_HUMAN)

Names and origin

Protein names

Recommended name:
    Uncharacterized protein C21orf2
Alternative name(s):
    C21orf-HUMF09G8.5
    YF5/A2

Gene names

Name:

C21orf2

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

General annotation (Comments)

Sequence similarities

To C.elegans F09G8.5.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: O43822-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform Short (identifier: O43822-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.
     49-51: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 256	256	Uncharacterized protein C21orf2		PRO_0000079503
Natural variations
	Alternative sequence	1 – 38	38	Missing in isoform Short.		VSP_004138
	Alternative sequence	49 – 51	3	Missing in isoform Short.		VSP_004139
	Natural variant	150	1	T → I: dbSNP rs2277809. Ref.2		VAR_016155
	Natural variant	153	1	G → S: dbSNP rs9306099.		VAR_050927
Experimental info
	Sequence conflict	106	1	R → A in AAB46590. Ref.3
	Sequence conflict	106	1	R → A in AAB46591. Ref.3
	Sequence conflict	183	1	Missing in AAB46590. Ref.3
	Sequence conflict	183	1	Missing in AAB46591. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified June 1, 1998. Version 1. Checksum: D33F31EDAEA77D2A	FASTA	256	28,340
	10 20 30 40 50 60 MKLTRKMVLT RAKASELHSV RKLNCWGSRL TDISICQEMP SLEVITLSVN SISTLEPVSR 70 80 90 100 110 120 CQRLSELYLR RNRIPSLAEL FYLKGLPRLR VLWLAENPCC GTSPHRYRMT VLRTLPRLQK 130 140 150 160 170 180 LDNQAVTEEE LSRALSEGEE ITAAPEREGT GHGGPKLCCT LSSLSSAAET GRDPLDSEEE 190 200 210 220 230 240 ATSGAQDERG LKPPSRGQFP SLSARDASSS HRGRNVLTAI LLLLRELDAE GLEAVQQTVG 250 SRLQALRGEE VQEHAE
	Isoform Short. Checksum: FB0E3948D4D824FC	FASTA	215	23,654
	10 20 30 40 50 60 MPSLEVITLS ISTLEPVSRC QRLSELYLRR NRIPSLAELF YLKGLPRLRV LWLAENPCCG 70 80 90 100 110 120 TSPHRYRMTV LRTLPRLQKL DNQAVTEEEL SRALSEGEEI TAAPEREGTG HGGPKLCCTL 130 140 150 160 170 180 SSLSSAAETG RDPLDSEEEA TSGAQDERGL KPPSRGQFPS LSARDASSSH RGRNVLTAIL 190 200 210 LLLRELDAEG LEAVQQTVGS RLQALRGEEV QEHAE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis." Scott H.S., Kyriakou D.S., Peterson P., Heino M., Tahtinen M., Krohn K., Chen H., Rossier C., Lalioti M.D., Antonarakis S.E. Genomics 47:64-70(1998) [PubMed: 9465297] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Lung and Pancreas.
[2]	"Isolation of candidate genes mapping in the APECED disease (PGD type I) region on Human chromosome 21q22.3." Thiel C., Lehrach H., Yaspo M.-L. Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ILE-150. Tissue: Lung.
[3]	"Characterization of alternatively spliced human YF5 and A2 cDNAs." Pruijn G.J.M., Misaki Y., van Venrooij W.J. Submitted (FEB-1997) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT). Tissue: Placenta and Teratocarcinoma.
[4]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [PubMed: 10830953] [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] (ISOFORM LONG). Tissue: Ovary.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	Y11392 mRNA. Translation: CAA72202.1. Z93322 mRNA. Translation: CAB07532.1. U84569 mRNA. Translation: AAB46590.1. U84570 mRNA. Translation: AAB46591.1. AP001754 Genomic DNA. Translation: BAA95562.1. BC072012 mRNA. Translation: AAH72012.1.
IPI	IPI00014472. IPI00884002.
RefSeq	NP_004919.1.
UniGene	Hs.517331
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	O43822.
Proteomic databases
PRIDE	O43822.
Genome annotation databases
Ensembl	ENST00000339818; ENSP00000344566; ENSG00000160226; Homo sapiens. [Genome view]
GeneID	755.
KEGG	hsa:755.
NMPDR	fig|9606.3.peg.21070.
UCSC	uc002zeo.1. human. uc002zep.2. human.
Organism-specific databases
CTD	755.
GeneCards	GC21M044573.
HGNC	HGNC:1260. C21orf2.
MIM	603191. gene.
PharmGKB	PA25816.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	O43822.
OrthoDB	EOG9PVRJV.
Gene expression databases
ArrayExpress	O43822.
Bgee	O43822.
CleanEx	HS_C21orf2.
Genevestigator	O43822.
GermOnline	ENSG00000160226. Homo sapiens.
Family and domain databases
InterPro	IPR003603. U2A'_phosphoprotein32A_C. [Graphical view]
SMART	SM00446. LRRcap. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	3056.
SOURCE	Search...

Entry information

Entry name

CU002_HUMAN

Accession

Primary (citable) accession number: O43822
Secondary accession number(s): O14993, Q99837, Q99838

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	June 1, 1998
Last modified:	November 24, 2009
This is version 77 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.