Q9Y5I4 (PCDC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protocadherin alpha-C2
Short name=PCDH-alpha-C2

Gene names

Name:

PCDHAC2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1007 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
Subcellular location	Cell membrane; Single-pass type I membrane protein By similarity.
Sequence similarities	Contains 6 cadherin domains.

Ontologies

Keywords
Biological process	Cell adhesion
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing
Domain	Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell adhesion Traceable author statement Ref.1. Source: ProtInc homophilic cell adhesion Inferred from electronic annotation. Source: InterPro nervous system development Traceable author statement Ref.1. Source: ProtInc
Cellular_component	integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform Long (identifier: Q9Y5I4-1)

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: Q9Y5I4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     856-884: PRQPNPDWRYSASLRAGMHSSVHLEEAGI → VRQWSGGLLQTHAFVTHPPISCDLALLSH
     885-1007: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 42	42	Potential
	Chain	43 – 1007	965	Protocadherin alpha-C2		PRO_0000003912
Regions
	Topological domain	43 – 708	666	Extracellular Potential
	Transmembrane	709 – 729	21	Helical; Potential
	Topological domain	730 – 1007	278	Cytoplasmic Potential
	Domain	43 – 148	106	Cadherin 1
	Domain	149 – 257	109	Cadherin 2
	Domain	258 – 365	108	Cadherin 3
	Domain	374 – 469	96	Cadherin 4
	Domain	470 – 579	110	Cadherin 5
	Domain	594 – 691	98	Cadherin 6
	Repeat	856 – 859	4	PXXP 1
	Repeat	889 – 892	4	PXXP 2
	Repeat	930 – 933	4	PXXP 3
	Repeat	948 – 951	4	PXXP 4
	Region	856 – 951	96	4 X 4 AA repeats of P-X-X-P
	Compositional bias	980 – 987	8	Poly-Lys
Amino acid modifications
	Glycosylation	280	1	N-linked (GlcNAc...) Potential
	Glycosylation	436	1	N-linked (GlcNAc...) Potential
	Glycosylation	586	1	N-linked (GlcNAc...) Potential
	Glycosylation	657	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	856 – 884	29	PRQPN…EEAGI → VRQWSGGLLQTHAFVTHPPI SCDLALLSH in isoform Short.		VSP_000701
	Alternative sequence	885 – 1007	123	Missing in isoform Short.		VSP_000702

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 39BF2356923E3B67	FASTA	1,007	109,450
	10 20 30 40 50 60 MEQAGTRPAA TEHPRLRRPM PWLLLLPLLL LLLLLLPGPA ASQLRYSVPE EQAPGALVGN 70 80 90 100 110 120 VARALGLELR RLGPGCLRIN HLGAPSPRYL ELDLTSGALF VNERIDREAL CEQRPRCLLS 130 140 150 160 170 180 LEVLAHNPVA VSAVEVEILD INDNSPRFPR PNYQLQVSES VAPGARFHIE SAQDPDVGAN 190 200 210 220 230 240 SVQTYELSPS EHFELDLKPL QENSKVLELV LRKGLDREQA ALHHLVLTAV DGGIPARSGT 250 260 270 280 290 300 AQISVRVLDT NDNSPAFDQS TYRVQLREDS PPGTLVVKLN ASDPDEGSNG ELRYSLSSYT 310 320 330 340 350 360 SDRERQLFSI DASTGEVRVI GGLDYEEASS YQIYVQATDR GPVPMAGHCK VLVDIVDVND 370 380 390 400 410 420 NAPEVVLTDL YSPVPENATP NTIVAVLSVN DQDSGPNRKV SLGLEATLPF RLNGFGNSYT 430 440 450 460 470 480 LVVSGPLDRE RVAVYNITVT ATDGGIPQLT SLRTLKVEIS DINDNPPSFL EDSYSIYIQE 490 500 510 520 530 540 NNLPGVLLCT VQATDPDEKE NAEVTYSLLE REIQGLPVTS YVSINSASGS LYAVNSFDYE 550 560 570 580 590 600 KFREFFVTVE AQDKGSPPLS STVTANVYVV DMNDHAPHIL YPTSTNSSAA FEMVPRTAPA 610 620 630 640 650 660 GYLVTKVIAM DSDSGQNAWL FYHLAQTSDL DLFKVELHTG EIRTTRKMGD ESGSTFNLTV 670 680 690 700 710 720 VVRDNGEPSL SASVAITVAV VDRVSKILPD TQRHVKSPRT YSEITLYLII ALSTVSFIFL 730 740 750 760 770 780 LTIIILSIIK CYRYTAYGTA CCGGFCGVRE RSPAELYKQA NNNIDARIPH GLKVQPHFIE 790 800 810 820 830 840 VRGNGSLTKT YCYKACLTAG SGSDTFMFYN TGAQTGPGPS GAQAAVTDSR NLTGQSGQNA 850 860 870 880 890 900 GNLIILKNEA VSQNEPRQPN PDWRYSASLR AGMHSSVHLE EAGILRAGPG GPDQQWPTVS 910 920 930 940 950 960 SATPEPEAGE VSPPVGAGVN SNSWTFKYGP GNPKQSGPGE LPDKFIIPGS PAIISIRQEP 970 980 990 1000 TNSQIDKSDF ITFGKKEETK KKKKKKKGNK TQEKKEKGNS TTDNSDQ
	Isoform Short [UniParc]. Checksum: 87C84D767A888375	FASTA	884	96,197
	10 20 30 40 50 60 MEQAGTRPAA TEHPRLRRPM PWLLLLPLLL LLLLLLPGPA ASQLRYSVPE EQAPGALVGN 70 80 90 100 110 120 VARALGLELR RLGPGCLRIN HLGAPSPRYL ELDLTSGALF VNERIDREAL CEQRPRCLLS 130 140 150 160 170 180 LEVLAHNPVA VSAVEVEILD INDNSPRFPR PNYQLQVSES VAPGARFHIE SAQDPDVGAN 190 200 210 220 230 240 SVQTYELSPS EHFELDLKPL QENSKVLELV LRKGLDREQA ALHHLVLTAV DGGIPARSGT 250 260 270 280 290 300 AQISVRVLDT NDNSPAFDQS TYRVQLREDS PPGTLVVKLN ASDPDEGSNG ELRYSLSSYT 310 320 330 340 350 360 SDRERQLFSI DASTGEVRVI GGLDYEEASS YQIYVQATDR GPVPMAGHCK VLVDIVDVND 370 380 390 400 410 420 NAPEVVLTDL YSPVPENATP NTIVAVLSVN DQDSGPNRKV SLGLEATLPF RLNGFGNSYT 430 440 450 460 470 480 LVVSGPLDRE RVAVYNITVT ATDGGIPQLT SLRTLKVEIS DINDNPPSFL EDSYSIYIQE 490 500 510 520 530 540 NNLPGVLLCT VQATDPDEKE NAEVTYSLLE REIQGLPVTS YVSINSASGS LYAVNSFDYE 550 560 570 580 590 600 KFREFFVTVE AQDKGSPPLS STVTANVYVV DMNDHAPHIL YPTSTNSSAA FEMVPRTAPA 610 620 630 640 650 660 GYLVTKVIAM DSDSGQNAWL FYHLAQTSDL DLFKVELHTG EIRTTRKMGD ESGSTFNLTV 670 680 690 700 710 720 VVRDNGEPSL SASVAITVAV VDRVSKILPD TQRHVKSPRT YSEITLYLII ALSTVSFIFL 730 740 750 760 770 780 LTIIILSIIK CYRYTAYGTA CCGGFCGVRE RSPAELYKQA NNNIDARIPH GLKVQPHFIE 790 800 810 820 830 840 VRGNGSLTKT YCYKACLTAG SGSDTFMFYN TGAQTGPGPS GAQAAVTDSR NLTGQSGQNA 850 860 870 880 GNLIILKNEA VSQNEVRQWS GGLLQTHAFV THPPISCDLA LLSH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A striking organization of a large family of human neural cadherin-like cell adhesion genes." Wu Q., Maniatis T. Cell 97:779-790(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT). Tissue: Brain.
[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].
[3]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT). Tissue: Cerebellum.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF152304 mRNA. Translation: AAD43698.1. AF152474 mRNA. Translation: AAD43735.1. CH471062 Genomic DNA. Translation: EAW62000.1. BC104776 mRNA. Translation: AAI04777.1. BC105111 mRNA. Translation: AAI05112.1.
IPI	IPI00001516. IPI00218806.
RefSeq	NP_061722.1. NM_018899.5. NP_114089.1. NM_031883.2.
UniGene	Hs.199343.
3D structure databases
ProteinModelPortal	Q9Y5I4.
ModBase	Search...
PTM databases
PhosphoSite	Q9Y5I4.
Polymorphism databases
DMDM	13878435.
Proteomic databases
PaxDb	Q9Y5I4.
PRIDE	Q9Y5I4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000289269; ENSP00000289269; ENSG00000243232.
GeneID	56134.
KEGG	hsa:56134.
UCSC	uc003lii.3. human. uc011dag.2. human.
Organism-specific databases
CTD	56134.
GeneCards	GC05P140345.
HGNC	HGNC:8677. PCDHAC2.
HPA	HPA008712.
MIM	604966. gene. 606321. gene.
neXtProt	NX_Q9Y5I4.
PharmGKB	PA33023.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG267459.
HOGENOM	HOG000220892.
HOVERGEN	HBG054878.
InParanoid	Q9Y5I4.
KO	K16493.
OMA	VPMVGHC.
OrthoDB	EOG4SN1N1.
PhylomeDB	Q9Y5I4.
Gene expression databases
Bgee	Q9Y5I4.
Genevestigator	Q9Y5I4.
GermOnline	ENSG00000081842. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.60. 5 hits.
InterPro	IPR002126. Cadherin. IPR015919. Cadherin-like. IPR020894. Cadherin_CS. IPR013164. Cadherin_N. [Graphical view]
Pfam	PF00028. Cadherin. 5 hits. PF08266. Cadherin_2. 1 hit. [Graphical view]
PRINTS	PR00205. CADHERIN.
SMART	SM00112. CA. 6 hits. [Graphical view]
SUPFAM	SSF49313. Cadherin. 6 hits.
PROSITE	PS00232. CADHERIN_1. 5 hits. PS50268. CADHERIN_2. 6 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	56134.
NextBio	61668.
SOURCE	Search...

Entry information

Entry name

PCDC2_HUMAN

Accession

Primary (citable) accession number: Q9Y5I4
Secondary accession number(s): Q2M3V1, Q9Y5F4

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 27, 2001
Last sequence update:	November 1, 1999
Last modified:	May 1, 2013
This is version 110 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.