Reviewed, UniProtKB/Swiss-Prot Q9BZP3 (CR002_HUMAN)

Names and origin

Protein names

Recommended name:
    Uncharacterized protein C18orf2

Gene names

Name:

C18orf2

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

General annotation (Comments)

Tissue specificity

Retina-specific. Ref.1

Ontologies

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BZP3-1)

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 2 (identifier: Q9BZP3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-22: Missing.

Isoform 3 (identifier: Q9BZP3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MVRHPYSVQTQLSTEAKAIWRSM → MQCLYFILILKGYFHQQHHTLLITIALCFLQ
     62-86: CNCPIIGEIVISCYWLFEIPPLISE → ETQKCIQKPLHEK

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 86	86	Uncharacterized protein C18orf2		PRO_0000329448
Natural variations
	Alternative sequence	1 – 23	23	MVRHP…IWRSM → MQCLYFILILKGYFHQQHHT LLITIALCFLQ in isoform 3.		VSP_032987
	Alternative sequence	1 – 22	22	Missing in isoform 2.		VSP_032988
	Alternative sequence	62 – 86	25	CNCPI…PLISE → ETQKCIQKPLHEK in isoform 3.		VSP_032989

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: F36D86CAC6466992	FASTA	86	9,646
	10 20 30 40 50 60 MVRHPYSVQT QLSTEAKAIW RSMQQQETNL LANLTTNDAR DNSKDFQNSK VGAAATSRDE 70 80 GCNCPIIGEI VISCYWLFEI PPLISE
	Isoform 2. Checksum: C168EF9E8B863957	FASTA	64	7,075
	10 20 30 40 50 60 MQQQETNLLA NLTTNDARDN SKDFQNSKVG AAATSRDEGC NCPIIGEIVI SCYWLFEIPP LISE
	Isoform 3. Checksum: 5162CA14CED467B5	FASTA	82	9,406
	10 20 30 40 50 60 MQCLYFILIL KGYFHQQHHT LLITIALCFL QQQQETNLLA NLTTNDARDN SKDFQNSKVG 70 80 AAATSRDEGE TQKCIQKPLH EK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"EST mining of the UniGene dataset to identify retina-specific genes." Stoehr H., Mah N., Schulz H.L., Gehrig A., Froehlich S., Weber B.H.F. Cytogenet. Cell Genet. 91:267-277(2000) [PubMed: 11173868] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY. Tissue: Retina.
[2]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF295726 mRNA. Translation: AAK13319.1. AF295728 mRNA. Translation: AAK13320.1. AF295729 mRNA. Translation: AAK13321.1. CH471113 Genomic DNA. Translation: EAX01703.1. CH471113 Genomic DNA. Translation: EAX01704.1.
IPI	IPI00289169. IPI00889719. IPI00889778.
UniGene	Hs.541165
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9BZP3.
Genome annotation databases
Ensembl	ENST00000269201; ENSP00000269201; ENSG00000132204; Homo sapiens. [Genome view]
Organism-specific databases
GeneCards	GC18M001244. GC18U900451.
HGNC	HGNC:1225. C18orf2.
PharmGKB	PA25594.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9BZP3.
InParanoid	Q9BZP3.
Gene expression databases
ArrayExpress	Q9BZP3.
Bgee	Q9BZP3.
CleanEx	HS_C18orf2.
Genevestigator	Q9BZP3.
Family and domain databases
ProtoNet	Search...

Entry information

Entry name

CR002_HUMAN

Accession

Primary (citable) accession number: Q9BZP3
Secondary accession number(s): Q9BZP2, Q9BZP4

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 8, 2008
Last sequence update:	June 1, 2001
Last modified:	December 15, 2009
This is version 39 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.