ID PCDA2_HUMAN Reviewed; 948 AA. AC Q9Y5H9; O75287; Q9BTV3; DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1999, sequence version 1. DT 11-MAY-2016, entry version 142. DE RecName: Full=Protocadherin alpha-2; DE Short=PCDH-alpha-2; DE Flags: Precursor; GN Name=PCDHA2; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). RC TISSUE=Brain; RX PubMed=10380929; DOI=10.1016/S0092-8674(00)80789-8; RA Wu Q., Maniatis T.; RT "A striking organization of a large family of human neural cadherin- RT like cell adhesion genes."; RL Cell 97:779-790(1999). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15372022; DOI=10.1038/nature02919; RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S., RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., RA Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., RA Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., RA Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., RA Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., RA Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., RA Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., RA Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., RA Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., RA Richardson P., Lucas S.M., Myers R.M., Rubin E.M.; RT "The DNA sequence and comparative analysis of human chromosome 5."; RL Nature 431:268-274(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). RC TISSUE=Brain; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP PROTEIN SEQUENCE OF 23-32. RC TISSUE=Platelet; RX PubMed=12665801; DOI=10.1038/nbt810; RA Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., RA Thomas G.R., Vandekerckhove J.; RT "Exploring proteomes and analyzing protein processing by mass RT spectrometric identification of sorted N-terminal peptides."; RL Nat. Biotechnol. 21:566-569(2003). CC -!- FUNCTION: Potential calcium-dependent cell-adhesion protein. May CC be involved in the establishment and maintenance of specific CC neuronal connections in the brain. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass CC type I membrane protein {ECO:0000250}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q9Y5H9-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9Y5H9-2; Sequence=VSP_000673, VSP_000674; CC Name=3; CC IsoId=Q9Y5H9-3; Sequence=VSP_008040, VSP_008041; CC Note=No experimental confirmation available.; CC -!- SIMILARITY: Contains 6 cadherin domains. {ECO:0000255|PROSITE- CC ProRule:PRU00043}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF152310; AAD43704.1; -; mRNA. DR EMBL; AF152480; AAD43741.1; -; mRNA. DR EMBL; AC005609; AAC34324.1; -; Genomic_DNA. DR EMBL; BC003126; AAH03126.1; -; mRNA. DR CCDS; CCDS54914.1; -. [Q9Y5H9-1] DR CCDS; CCDS64269.1; -. [Q9Y5H9-3] DR RefSeq; NP_061728.1; NM_018905.2. [Q9Y5H9-1] DR RefSeq; NP_113683.1; NM_031495.1. [Q9Y5H9-2] DR RefSeq; NP_113684.1; NM_031496.1. [Q9Y5H9-3] DR UniGene; Hs.199343; -. DR ProteinModelPortal; Q9Y5H9; -. DR SMR; Q9Y5H9; 27-667. DR BioGrid; 121086; 10. DR IntAct; Q9Y5H9; 1. DR STRING; 9606.ENSP00000431748; -. DR PhosphoSite; Q9Y5H9; -. DR BioMuta; PCDHA2; -. DR DMDM; 13878430; -. DR PaxDb; Q9Y5H9; -. DR PRIDE; Q9Y5H9; -. DR Ensembl; ENST00000378132; ENSP00000367372; ENSG00000204969. [Q9Y5H9-2] DR Ensembl; ENST00000520672; ENSP00000430584; ENSG00000204969. [Q9Y5H9-3] DR Ensembl; ENST00000526136; ENSP00000431748; ENSG00000204969. [Q9Y5H9-1] DR GeneID; 56146; -. DR KEGG; hsa:56146; -. DR UCSC; uc003lhc.2; human. [Q9Y5H9-1] DR CTD; 56146; -. DR GeneCards; PCDHA2; -. DR HGNC; HGNC:8668; PCDHA2. DR HPA; HPA035653; -. DR MIM; 604966; gene. DR MIM; 606308; gene. DR neXtProt; NX_Q9Y5H9; -. DR PharmGKB; PA33014; -. DR eggNOG; KOG3594; Eukaryota. DR eggNOG; ENOG410XQHI; LUCA. DR GeneTree; ENSGT00840000129695; -. DR HOGENOM; HOG000220892; -. DR HOVERGEN; HBG054878; -. DR InParanoid; Q9Y5H9; -. DR KO; K16493; -. DR OMA; ECSIHVE; -. DR OrthoDB; EOG7KSX80; -. DR PhylomeDB; Q9Y5H9; -. DR TreeFam; TF332299; -. DR GeneWiki; PCDHA2; -. DR GenomeRNAi; 56146; -. DR NextBio; 61744; -. DR PRO; PR:Q9Y5H9; -. DR Proteomes; UP000005640; Chromosome 5. DR Bgee; Q9Y5H9; -. DR Genevisible; Q9Y5H9; HS. DR GO; GO:0005783; C:endoplasmic reticulum; IEA:Ensembl. DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc. DR GO; GO:0005634; C:nucleus; IEA:Ensembl. DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro. DR GO; GO:0007155; P:cell adhesion; TAS:ProtInc. DR GO; GO:0007156; P:homophilic cell adhesion via plasma membrane adhesion molecules; IEA:InterPro. DR GO; GO:0007399; P:nervous system development; TAS:ProtInc. DR Gene3D; 2.60.40.60; -; 6. DR InterPro; IPR002126; Cadherin. DR InterPro; IPR015919; Cadherin-like. DR InterPro; IPR031904; Cadherin_CBD. DR InterPro; IPR020894; Cadherin_CS. DR InterPro; IPR013164; Cadherin_N. DR Pfam; PF00028; Cadherin; 5. DR Pfam; PF08266; Cadherin_2; 1. DR Pfam; PF15974; Cadherin_tail; 1. DR PRINTS; PR00205; CADHERIN. DR SMART; SM00112; CA; 6. DR SUPFAM; SSF49313; SSF49313; 6. DR PROSITE; PS00232; CADHERIN_1; 5. DR PROSITE; PS50268; CADHERIN_2; 6. PE 1: Evidence at protein level; KW Alternative splicing; Calcium; Cell adhesion; Cell membrane; KW Complete proteome; Direct protein sequencing; Glycoprotein; Membrane; KW Polymorphism; Reference proteome; Repeat; Signal; Transmembrane; KW Transmembrane helix. FT SIGNAL 1 22 {ECO:0000269|PubMed:12665801}. FT CHAIN 23 948 Protocadherin alpha-2. FT /FTId=PRO_0000003886. FT TOPO_DOM 23 697 Extracellular. {ECO:0000255}. FT TRANSMEM 698 718 Helical. {ECO:0000255}. FT TOPO_DOM 719 948 Cytoplasmic. {ECO:0000255}. FT DOMAIN 30 133 Cadherin 1. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT DOMAIN 157 242 Cadherin 2. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT DOMAIN 243 350 Cadherin 3. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT DOMAIN 351 455 Cadherin 4. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT DOMAIN 456 565 Cadherin 5. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT DOMAIN 588 678 Cadherin 6. {ECO:0000255|PROSITE- FT ProRule:PRU00043}. FT REPEAT 734 737 PXXP 1. FT REPEAT 797 800 PXXP 2. FT REPEAT 830 833 PXXP 3. FT REPEAT 871 874 PXXP 4. FT REPEAT 889 892 PXXP 5. FT REGION 734 892 5 X 4 AA repeats of P-X-X-P. FT COMPBIAS 921 928 Poly-Lys. FT CARBOHYD 257 257 N-linked (GlcNAc...). {ECO:0000255}. FT CARBOHYD 265 265 N-linked (GlcNAc...). {ECO:0000255}. FT CARBOHYD 362 362 N-linked (GlcNAc...). {ECO:0000255}. FT CARBOHYD 548 548 N-linked (GlcNAc...). {ECO:0000255}. FT VAR_SEQ 797 824 PRQPNPDWRYSASLRAGMHSSVHLEEAG -> VSLLLFLAN FT SKIVLFKKFYMISTSYLDS (in isoform 2). FT {ECO:0000303|PubMed:10380929}. FT /FTId=VSP_000673. FT VAR_SEQ 797 808 PRQPNPDWRYSA -> IWNFNLQIQLAS (in isoform FT 3). {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_008040. FT VAR_SEQ 809 948 Missing (in isoform 3). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_008041. FT VAR_SEQ 825 948 Missing (in isoform 2). FT {ECO:0000303|PubMed:10380929}. FT /FTId=VSP_000674. FT VARIANT 25 25 E -> K (in dbSNP:rs9686540). FT /FTId=VAR_059179. FT VARIANT 106 106 V -> L (in dbSNP:rs11167600). FT /FTId=VAR_024389. FT VARIANT 764 764 P -> L (in dbSNP:rs6858913). FT /FTId=VAR_048523. SQ SEQUENCE 948 AA; 102063 MW; 8D2E9644982AE59E CRC64; MASSIRRGRG AWTRLLSLLL LAAWEVGSGQ LRYSVPEEAK HGTFVGRIAQ DLGLELEELV PRLFRVASKR HGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHVEVIV DRPLQVFHVE VEVKDINDNP PIFPMTVKTI RFPESRLLDS RFPLEGASDA DIGVNALLSY KLSSSEFFFL DIQANDELSE SLSLVLGKSL DREETAEVNL LLVATDGGKP ELTGTVQILI KVLDVNDNEP TFAQSVYKVK LLENTANGTL VVKLNASDAD EGPNSEIVYS LGSDVSSTIQ TKFTIDPISG EIRTKGKLDY EEAKSYEIQV TATDKGTPSM SGHCKISLKL VDINDNTPEV SITSLSLPIS ENASLGTVIA LITVSDRDSG TNGHVTCSLT PHVPFKLVST FKNYYSLVLD SALDRESVSA YELVVTARDG GSPSLWATTS VSIEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAW DADAQENALV SYSLVERRVG ERALSSYVSV HAESGKVYAL QPLDHEEVEL LQFQVSARDA GVPPLGSNVT LQVFVLDEND NAPALLAPRA GTAAGAVSEL VPWSVGAGHV VAKVRAVDAD SGYNAWLSYE LQLGTGSARI PFRVGLYTGE ISTTRALDEA DSPRHRLLVL VKDHGEPALT ATATVLVSLV ESGQAPKASS RAWVGAAGSE ATLVDVNVYL IIAICAVSSL LVLTVLLYTA LRCSVPPTEG ARAPGKPTLV CSSAVGSWSY SQQRRQRVCS GEDPPKTDLM AFSPSLSQGP DSAEEKQLSE SEYVGKPRQP NPDWRYSASL RAGMHSSVHL EEAGILRAGP GGPDQQWPTV SSATPEPEAG EVSPPVGAGV NSNSWTFKYG PGNPKQSGPG ELPDKFIIPG SPAIISIRQE PTNSQIDKSD FITFGKKEET KKKKKKKKGN KTQEKKEKGN STTDNSDQ //