PCDA2_HUMAN
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 03-AUG-2022, entry version 183.
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;
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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 GlyGen; Q9Y5H9; 4 sites.
DR iPTMnet; Q9Y5H9; -.
DR PhosphoSitePlus; Q9Y5H9; -.
DR BioMuta; PCDHA2; -.
DR DMDM; 13878430; -.
DR jPOST; Q9Y5H9; -.
DR MassIVE; Q9Y5H9; -.
DR PaxDb; Q9Y5H9; -.
DR PeptideAtlas; Q9Y5H9; -.
DR PRIDE; Q9Y5H9; -.
DR Antibodypedia; 27110; 119 antibodies from 20 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 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 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; VTCTLIP; -.
DR OrthoDB; 300321at2759; -.
DR PhylomeDB; Q9Y5H9; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5H9; -.
DR SignaLink; Q9Y5H9; -.
DR SIGNOR; Q9Y5H9; -.
DR BioGRID-ORCS; 56146; 4 hits in 1022 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 tissues.
DR Genevisible; Q9Y5H9; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:Ensembl.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
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; 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 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 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 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
