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 27-MAR-2024, entry version 191. 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; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC 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-like RT 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., Gomez M., RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., RA Rokhsar D.S., 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 project: RT 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., Thomas G.R., RA Vandekerckhove J.; RT "Exploring proteomes and analyzing protein processing by mass spectrometric RT identification of sorted N-terminal peptides."; RL Nat. Biotechnol. 21:566-569(2003). CC -!- FUNCTION: Potential calcium-dependent cell-adhesion protein. May be CC involved in the establishment and maintenance of specific neuronal CC connections in the brain. CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I CC 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 --------------------------------------------------------------------------- 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 AlphaFoldDB; Q9Y5H9; -. DR SMR; Q9Y5H9; -. DR BioGRID; 121086; 13. DR IntAct; Q9Y5H9; 2. DR STRING; 9606.ENSP00000431748; -. DR GlyCosmos; Q9Y5H9; 4 sites, No reported glycans. DR GlyGen; Q9Y5H9; 4 sites. DR iPTMnet; Q9Y5H9; -. DR PhosphoSitePlus; Q9Y5H9; -. DR BioMuta; PCDHA2; -. DR DMDM; 13878430; -. DR jPOST; Q9Y5H9; -. DR MassIVE; Q9Y5H9; -. DR PaxDb; 9606-ENSP00000431748; -. DR PeptideAtlas; Q9Y5H9; -. DR Antibodypedia; 27110; 124 antibodies from 21 providers. DR DNASU; 56146; -. DR Ensembl; ENST00000378132.2; ENSP00000367372.1; ENSG00000204969.7. [Q9Y5H9-2] DR Ensembl; ENST00000520672.2; ENSP00000430584.2; ENSG00000204969.7. [Q9Y5H9-3] DR Ensembl; ENST00000526136.2; ENSP00000431748.1; ENSG00000204969.7. [Q9Y5H9-1] DR Ensembl; ENST00000708288.1; ENSP00000517139.1; ENSG00000291650.1. [Q9Y5H9-2] DR Ensembl; ENST00000708289.1; ENSP00000517140.1; ENSG00000291650.1. [Q9Y5H9-1] DR Ensembl; ENST00000708290.1; ENSP00000517141.1; ENSG00000291650.1. [Q9Y5H9-3] DR GeneID; 56146; -. DR KEGG; hsa:56146; -. DR MANE-Select; ENST00000526136.2; ENSP00000431748.1; NM_018905.3; NP_061728.1. DR UCSC; uc003lhc.2; human. [Q9Y5H9-1] DR AGR; HGNC:8668; -. DR CTD; 56146; -. DR DisGeNET; 56146; -. DR GeneCards; PCDHA2; -. DR HGNC; HGNC:8668; PCDHA2. DR HPA; ENSG00000204969; Tissue enhanced (brain, pituitary gland). DR MIM; 604966; gene. DR MIM; 606308; gene. DR neXtProt; NX_Q9Y5H9; -. DR OpenTargets; ENSG00000204969; -. DR PharmGKB; PA33014; -. DR VEuPathDB; HostDB:ENSG00000204969; -. DR eggNOG; KOG3594; Eukaryota. DR GeneTree; ENSGT00940000164747; -. DR HOGENOM; CLU_006480_3_0_1; -. DR InParanoid; Q9Y5H9; -. DR OMA; AKTIRFH; -. DR OrthoDB; 4259465at2759; -. DR PhylomeDB; Q9Y5H9; -. DR TreeFam; TF332299; -. DR PathwayCommons; Q9Y5H9; -. DR SignaLink; Q9Y5H9; -. DR SIGNOR; Q9Y5H9; -. DR BioGRID-ORCS; 56146; 5 hits in 1099 CRISPR screens. DR GeneWiki; PCDHA2; -. DR GenomeRNAi; 56146; -. DR Pharos; Q9Y5H9; Tdark. DR PRO; PR:Q9Y5H9; -. DR Proteomes; UP000005640; Chromosome 5. DR RNAct; Q9Y5H9; Protein. DR Bgee; ENSG00000204969; Expressed in cortical plate and 64 other cell types or tissues. DR Genevisible; Q9Y5H9; HS. DR GO; GO:0005783; C:endoplasmic reticulum; IEA:Ensembl. DR GO; GO:0005634; C:nucleus; IEA:Ensembl. DR GO; GO:0005886; C:plasma membrane; TAS:ProtInc. DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro. DR GO; GO:0007155; P:cell adhesion; IBA:GO_Central. 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 CDD; cd11304; Cadherin_repeat; 6. DR Gene3D; 2.60.40.60; Cadherins; 6. DR InterPro; IPR002126; Cadherin-like_dom. DR InterPro; IPR015919; Cadherin-like_sf. DR InterPro; IPR031904; Cadherin_CBD. DR InterPro; IPR020894; Cadherin_CS. DR InterPro; IPR013164; Cadherin_N. DR PANTHER; PTHR24028; CADHERIN-87A; 1. DR PANTHER; PTHR24028:SF60; PROTOCADHERIN ALPHA-2; 1. 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; Cadherin-like; 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 Direct protein sequencing; Glycoprotein; Membrane; Reference proteome; KW Repeat; Signal; Transmembrane; Transmembrane helix. FT SIGNAL 1..22 FT /evidence="ECO:0000269|PubMed:12665801" FT CHAIN 23..948 FT /note="Protocadherin alpha-2" FT /id="PRO_0000003886" FT TOPO_DOM 23..697 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 698..718 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 719..948 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT DOMAIN 30..133 FT /note="Cadherin 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT DOMAIN 157..242 FT /note="Cadherin 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT DOMAIN 243..350 FT /note="Cadherin 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT DOMAIN 351..455 FT /note="Cadherin 4" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT DOMAIN 456..565 FT /note="Cadherin 5" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT DOMAIN 588..678 FT /note="Cadherin 6" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043" FT REPEAT 734..737 FT /note="PXXP 1" FT REPEAT 797..800 FT /note="PXXP 2" FT REPEAT 830..833 FT /note="PXXP 3" FT REPEAT 871..874 FT /note="PXXP 4" FT REPEAT 889..892 FT /note="PXXP 5" FT REGION 734..892 FT /note="5 X 4 AA repeats of P-X-X-P" FT REGION 754..801 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 829..854 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 868..948 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 896..910 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 933..948 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT CARBOHYD 257 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 265 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 362 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 548 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VAR_SEQ 797..824 FT /note="PRQPNPDWRYSASLRAGMHSSVHLEEAG -> VSLLLFLANSKIVLFKKFYM FT ISTSYLDS (in isoform 2)" FT /evidence="ECO:0000303|PubMed:10380929" FT /id="VSP_000673" FT VAR_SEQ 797..808 FT /note="PRQPNPDWRYSA -> IWNFNLQIQLAS (in isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_008040" FT VAR_SEQ 809..948 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_008041" FT VAR_SEQ 825..948 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:10380929" FT /id="VSP_000674" FT VARIANT 25 FT /note="E -> K (in dbSNP:rs9686540)" FT /id="VAR_059179" FT VARIANT 106 FT /note="V -> L (in dbSNP:rs11167600)" FT /id="VAR_024389" FT VARIANT 764 FT /note="P -> L (in dbSNP:rs6858913)" FT /id="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 //