ID PCDG2_HUMAN Reviewed; 932 AA.
AC Q9Y5H1; Q52LL6; Q9Y5D5;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 24-JAN-2024, entry version 175.
DE RecName: Full=Protocadherin gamma-A2;
DE Short=PCDH-gamma-A2;
DE Flags: Precursor;
GN Name=PCDHGA2;
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].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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).
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=2;
CC Name=1;
CC IsoId=Q9Y5H1-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5H1-2; Sequence=VSP_008661, VSP_008662;
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DR EMBL; AF152322; AAD43716.1; -; mRNA.
DR EMBL; AF152508; AAD43769.1; -; mRNA.
DR EMBL; CH471062; EAW61941.1; -; Genomic_DNA.
DR EMBL; BC093871; AAH93871.1; -; mRNA.
DR EMBL; BC104950; AAI04951.1; -; mRNA.
DR CCDS; CCDS47289.1; -. [Q9Y5H1-1]
DR RefSeq; NP_061738.1; NM_018915.3. [Q9Y5H1-1]
DR RefSeq; NP_114398.1; NM_032009.2. [Q9Y5H1-2]
DR AlphaFoldDB; Q9Y5H1; -.
DR SMR; Q9Y5H1; -.
DR BioGRID; 121053; 1.
DR STRING; 9606.ENSP00000378077; -.
DR GlyCosmos; Q9Y5H1; 3 sites, No reported glycans.
DR GlyGen; Q9Y5H1; 3 sites.
DR iPTMnet; Q9Y5H1; -.
DR PhosphoSitePlus; Q9Y5H1; -.
DR BioMuta; PCDHGA2; -.
DR DMDM; 37999841; -.
DR EPD; Q9Y5H1; -.
DR jPOST; Q9Y5H1; -.
DR MassIVE; Q9Y5H1; -.
DR MaxQB; Q9Y5H1; -.
DR PaxDb; 9606-ENSP00000378077; -.
DR PeptideAtlas; Q9Y5H1; -.
DR ProteomicsDB; 86383; -. [Q9Y5H1-1]
DR ProteomicsDB; 86384; -. [Q9Y5H1-2]
DR Antibodypedia; 2261; 80 antibodies from 16 providers.
DR DNASU; 56113; -.
DR Ensembl; ENST00000394576.3; ENSP00000378077.2; ENSG00000081853.15. [Q9Y5H1-1]
DR Ensembl; ENST00000528330.2; ENSP00000483020.1; ENSG00000081853.15. [Q9Y5H1-2]
DR GeneID; 56113; -.
DR KEGG; hsa:56113; -.
DR MANE-Select; ENST00000394576.3; ENSP00000378077.2; NM_018915.4; NP_061738.1.
DR UCSC; uc003ljk.4; human. [Q9Y5H1-1]
DR AGR; HGNC:8700; -.
DR CTD; 56113; -.
DR DisGeNET; 56113; -.
DR GeneCards; PCDHGA2; -.
DR HGNC; HGNC:8700; PCDHGA2.
DR HPA; ENSG00000081853; Low tissue specificity.
DR MalaCards; PCDHGA2; -.
DR MIM; 604968; gene.
DR MIM; 606289; gene.
DR neXtProt; NX_Q9Y5H1; -.
DR PharmGKB; PA33048; -.
DR VEuPathDB; HostDB:ENSG00000081853; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000159725; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5H1; -.
DR OMA; LWLTAWD; -.
DR OrthoDB; 5402790at2759; -.
DR PhylomeDB; Q9Y5H1; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5H1; -.
DR SIGNOR; Q9Y5H1; -.
DR BioGRID-ORCS; 56113; 7 hits in 1085 CRISPR screens.
DR ChiTaRS; PCDHGA2; human.
DR GenomeRNAi; 56113; -.
DR Pharos; Q9Y5H1; Tdark.
DR PRO; PR:Q9Y5H1; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5H1; Protein.
DR Bgee; ENSG00000081853; Expressed in cortical plate and 101 other cell types or tissues.
DR Genevisible; Q9Y5H1; HS.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
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; IEA:UniProt.
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; IPR032455; Cadherin_C.
DR InterPro; IPR031904; Cadherin_CBD.
DR InterPro; IPR020894; Cadherin_CS.
DR InterPro; IPR013164; Cadherin_N.
DR PANTHER; PTHR24028; CADHERIN-87A; 1.
DR PANTHER; PTHR24028:SF134; PROTOCADHERIN GAMMA-A2; 1.
DR Pfam; PF00028; Cadherin; 5.
DR Pfam; PF08266; Cadherin_2; 1.
DR Pfam; PF16492; Cadherin_C_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 2: Evidence at transcript level;
KW Alternative splicing; Calcium; Cell adhesion; Cell membrane; Glycoprotein;
KW Membrane; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..28
FT /evidence="ECO:0000255"
FT CHAIN 29..932
FT /note="Protocadherin gamma-A2"
FT /id="PRO_0000003950"
FT TOPO_DOM 29..692
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 693..713
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 714..932
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 29..133
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 134..242
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 243..347
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 348..452
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 453..562
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 570..682
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 798..841
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 902..932
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 807..841
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 419
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 545
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 685
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 809..823
FT /note="QAPPNTDWRFSQAQR -> VIYLFTTYVLASLLK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008661"
FT VAR_SEQ 824..932
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008662"
FT VARIANT 5
FT /note="Q -> R (in dbSNP:rs6878145)"
FT /id="VAR_048556"
SQ SEQUENCE 932 AA; 101484 MW; 19FE96244C0AB248 CRC64;
MAALQKLPHC RKLVLLCFLL ATLWEARAGQ IRYSVREEID RGSFVGNIAK DLGLEPLALA
EQGVRIVSRG RSQLFALNPR SGSLVTANRI DREELCAQSA PCLLNFNILL EDKLTIYSVE
VEITDINDNA PRFGVEELEL KISETTTPGF RIPLKNAHDA DVGENALQKY ALNPNDHFSL
DVRRGADGNK YPELVLERSL DREEEAVHHL VLVASDGGDP VLSGTSRICV KVLDANDNAP
VFTQPEYRIS IPENTLVGTR ILTVTATDAD EGYYAQVVYF LEKSPGETSE VFELKSTSGE
LTIIKDLDYE DATFHEIDIE AQDGPGLLTR AKVIVTVLDV NDNAPEFYMT SATSSVSEDS
LPGTIIGLFN VHDRDSGQNA FTTCSLPEDL PFKLEKSVDN YYRLVTTRAL DREQFSFYNI
TLTAKDGGNP SLSTDAHILL QVADINDNAP AFSRTSYSTY IPENNPRGAS VFSVTAHDPD
SNDNAHVTYS FAEDTVQGAP LSSYISINSD TGVLYALRSF DYEQLRDLQV WVIARDSGNP
PLSSNVSLSL FVLDQNDNAP EILYPAFPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
NAWLSYHLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAIQDHG QPPLSATVTL
TVAVADRIPD ILADLGSLEP SAIPNDSDLT LYLVVAVAAV SCVFLAFVIV LLAHRLRRWH
KSRLLQASGG SLTGMQSSHF VGVDGVRAFL QTYSHEVSLT ADSRKSHLIF PQPNYADTLI
SQESCEKKDF LSAPQSLLEE EREETFSQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN
NQFDTEMLQA MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK
//
