PCDGE_HUMAN
ID PCDGE_HUMAN Reviewed; 931 AA.
AC Q9Y5G2; Q3MIJ3; Q9UN65;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Protocadherin gamma-B2;
DE Short=PCDH-gamma-B2;
DE Flags: Precursor;
GN Name=PCDHGB2;
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=Q9Y5G2-1; Sequence=Displayed;
CC Name=2; Synonyms=Short;
CC IsoId=Q9Y5G2-2; Sequence=VSP_008686, VSP_008687;
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DR EMBL; AF152331; AAD43725.1; -; mRNA.
DR EMBL; AF152518; AAD43778.1; -; mRNA.
DR EMBL; CH471062; EAW61939.1; -; Genomic_DNA.
DR EMBL; BC101805; AAI01806.1; -; mRNA.
DR CCDS; CCDS54924.1; -. [Q9Y5G2-1]
DR CCDS; CCDS75332.1; -. [Q9Y5G2-2]
DR RefSeq; NP_061746.1; NM_018923.2. [Q9Y5G2-1]
DR RefSeq; NP_115267.1; NM_032096.1. [Q9Y5G2-2]
DR AlphaFoldDB; Q9Y5G2; -.
DR SMR; Q9Y5G2; -.
DR BioGRID; 121043; 42.
DR IntAct; Q9Y5G2; 2.
DR STRING; 9606.ENSP00000429018; -.
DR GlyConnect; 1687; 4 N-Linked glycans (1 site).
DR GlyGen; Q9Y5G2; 2 sites, 3 N-linked glycans (1 site).
DR iPTMnet; Q9Y5G2; -.
DR PhosphoSitePlus; Q9Y5G2; -.
DR BioMuta; PCDHGB2; -.
DR DMDM; 37999832; -.
DR EPD; Q9Y5G2; -.
DR jPOST; Q9Y5G2; -.
DR MassIVE; Q9Y5G2; -.
DR MaxQB; Q9Y5G2; -.
DR PaxDb; Q9Y5G2; -.
DR PeptideAtlas; Q9Y5G2; -.
DR PRIDE; Q9Y5G2; -.
DR ProteomicsDB; 86365; -. [Q9Y5G2-1]
DR ProteomicsDB; 86366; -. [Q9Y5G2-2]
DR Antibodypedia; 56127; 201 antibodies from 19 providers.
DR DNASU; 56103; -.
DR Ensembl; ENST00000522605.2; ENSP00000429018.1; ENSG00000253910.3. [Q9Y5G2-1]
DR Ensembl; ENST00000622527.1; ENSP00000481512.1; ENSG00000253910.3. [Q9Y5G2-2]
DR GeneID; 56103; -.
DR KEGG; hsa:56103; -.
DR MANE-Select; ENST00000522605.2; ENSP00000429018.1; NM_018923.3; NP_061746.1.
DR UCSC; uc003ljs.3; human. [Q9Y5G2-1]
DR CTD; 56103; -.
DR GeneCards; PCDHGB2; -.
DR HGNC; HGNC:8709; PCDHGB2.
DR HPA; ENSG00000253910; Tissue enhanced (brain).
DR MIM; 604968; gene.
DR MIM; 606300; gene.
DR neXtProt; NX_Q9Y5G2; -.
DR OpenTargets; ENSG00000253910; -.
DR PharmGKB; PA33057; -.
DR VEuPathDB; HostDB:ENSG00000253910; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000165388; -.
DR HOGENOM; CLU_006480_3_0_1; -.
DR InParanoid; Q9Y5G2; -.
DR OMA; PNTNHEG; -.
DR OrthoDB; 385992at2759; -.
DR PhylomeDB; Q9Y5G2; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5G2; -.
DR SignaLink; Q9Y5G2; -.
DR SIGNOR; Q9Y5G2; -.
DR BioGRID-ORCS; 56103; 10 hits in 1020 CRISPR screens.
DR GenomeRNAi; 56103; -.
DR Pharos; Q9Y5G2; Tdark.
DR PRO; PR:Q9Y5G2; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5G2; protein.
DR Bgee; ENSG00000253910; Expressed in cortical plate and 101 other tissues.
DR Genevisible; Q9Y5G2; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
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 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 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; SSF49313; 6.
DR PROSITE; PS00232; CADHERIN_1; 4.
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..30
FT /evidence="ECO:0000255"
FT CHAIN 31..931
FT /note="Protocadherin gamma-B2"
FT /id="PRO_0000003974"
FT TOPO_DOM 31..691
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 692..712
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 713..931
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 31..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..675
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REGION 814..840
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 901..931
FT /note="Disordered"
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 VAR_SEQ 808..811
FT /note="QAPP -> VSFN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008686"
FT VAR_SEQ 812..931
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008687"
FT VARIANT 26
FT /note="P -> R (in dbSNP:rs17097231)"
FT /id="VAR_048568"
FT VARIANT 58
FT /note="V -> I (in dbSNP:rs13171859)"
FT /id="VAR_061071"
FT VARIANT 687
FT /note="K -> E (in dbSNP:rs57735633)"
FT /id="VAR_061072"
SQ SEQUENCE 931 AA; 100875 MW; 26B7518D2B632BEF CRC64;
MKASSGRCGL VRWLQVLLPF LLSLFPGALP VQIRYSIPEE LAKNSVVGNL AKDLGLSVRD
LPARKLRVSA EKEYFTVNPE SGDLLVSDRI DREQICGKQP LCVLDFDTVA ENPLNIFYIA
VIVQDINDNT PLFKQTKINL KIGESTKPGT TFPLDPALDS DVGPNSLQRY HLNDNEYFDL
AEKQTPDGRK YPELILKHSL DREEHSLHQL VLTAVDGGDP PQSGTTQIRI KVTDANDNPP
VFSQDVYRVT LREDVPPGFF VLQVTATDRD EGINAEITYS FHNVDEQVKH FFNLNEKTGE
ITTKDDLDFE IASSYTLSIE AKDPGDLAAH CSIQVEILDD NDCAPEVIVT SVSTPLPEDS
PPGTVIALIK TRDRDSGENG EVYCQVLGNA KFILKSSSKN YYKLVTDGAL DREEIPEYNL
TITATDGGKP PLSSSIIVTL HISDVNDNAP VFQQTSYMVH VAENNPPGAS IAQISASDPD
LGPSGQVSYS IVASDLKPRE ILSYVSVSAQ SGVVFAQRAF DHEQLRAFEL TLQARDQGSP
ALSANVSLRV LVGDLNDNAP RVLYPALGPD GSALFDMVPR AAEPGYLVTK VVAVDADSGH
NAWLSYHVLQ ASEPGLFSLG LRTGEVRTAR ALGDRDAARQ RLLVAVRDGG QPPLSATATL
HLIFADSLQE VLPDLSDRRE PSDPQAKLQF YLVVALALIS VLFFLAVILA ISLRLRLSSR
SDAWDCFQPG LSSKPGPGVL PNYSEGTLPY SYNLCVASQS AKTEFNFLNI TPELVPAQDL
VCDNASWEQN TNHGAAGVPF ASDTILKQAP PNTDWRFSQA QRPGTSGSQN GDDTGTWPNN
QFDTEMLQAM ILASASEAAD GSSTLGGGAG TMGLSARYGP QFTLQHVPDY RQNVYIPGSN
ATLTNAAGKR DGKAPAGGNG NKKKSGKKEK K
