PCDC2_HUMAN
ID PCDC2_HUMAN Reviewed; 1007 AA.
AC Q9Y5I4; Q2M3V1; Q9Y5F4;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 172.
DE RecName: Full=Protocadherin alpha-C2;
DE Short=PCDH-alpha-C2;
DE Flags: Precursor;
GN Name=PCDHAC2;
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 LONG AND SHORT).
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 SHORT).
RC TISSUE=Cerebellum;
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=Long;
CC IsoId=Q9Y5I4-1; Sequence=Displayed;
CC Name=Short;
CC IsoId=Q9Y5I4-2; Sequence=VSP_000701, VSP_000702;
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DR EMBL; AF152304; AAD43698.1; -; mRNA.
DR EMBL; AF152474; AAD43735.1; -; mRNA.
DR EMBL; CH471062; EAW62000.1; -; Genomic_DNA.
DR EMBL; BC104776; AAI04777.1; -; mRNA.
DR EMBL; BC105111; AAI05112.1; -; mRNA.
DR CCDS; CCDS4242.1; -. [Q9Y5I4-1]
DR RefSeq; NP_061722.1; NM_018899.5. [Q9Y5I4-1]
DR RefSeq; NP_114089.1; NM_031883.2. [Q9Y5I4-2]
DR AlphaFoldDB; Q9Y5I4; -.
DR SMR; Q9Y5I4; -.
DR BioGRID; 121074; 99.
DR IntAct; Q9Y5I4; 37.
DR STRING; 9606.ENSP00000289269; -.
DR GlyGen; Q9Y5I4; 4 sites.
DR iPTMnet; Q9Y5I4; -.
DR PhosphoSitePlus; Q9Y5I4; -.
DR BioMuta; PCDHAC2; -.
DR DMDM; 13878435; -.
DR EPD; Q9Y5I4; -.
DR MassIVE; Q9Y5I4; -.
DR PaxDb; Q9Y5I4; -.
DR PeptideAtlas; Q9Y5I4; -.
DR PRIDE; Q9Y5I4; -.
DR ProteomicsDB; 86414; -. [Q9Y5I4-1]
DR ProteomicsDB; 86415; -. [Q9Y5I4-2]
DR TopDownProteomics; Q9Y5I4-2; -. [Q9Y5I4-2]
DR Antibodypedia; 35019; 160 antibodies from 24 providers.
DR DNASU; 56134; -.
DR Ensembl; ENST00000289269.7; ENSP00000289269.5; ENSG00000243232.6. [Q9Y5I4-1]
DR Ensembl; ENST00000615316.1; ENSP00000478629.1; ENSG00000243232.6. [Q9Y5I4-2]
DR GeneID; 56134; -.
DR KEGG; hsa:56134; -.
DR MANE-Select; ENST00000289269.7; ENSP00000289269.5; NM_018899.6; NP_061722.1.
DR UCSC; uc003lii.4; human. [Q9Y5I4-1]
DR CTD; 56134; -.
DR DisGeNET; 56134; -.
DR GeneCards; PCDHAC2; -.
DR HGNC; HGNC:8677; PCDHAC2.
DR HPA; ENSG00000243232; Tissue enriched (parathyroid).
DR MIM; 604966; gene.
DR MIM; 606321; gene.
DR neXtProt; NX_Q9Y5I4; -.
DR OpenTargets; ENSG00000243232; -.
DR PharmGKB; PA33023; -.
DR VEuPathDB; HostDB:ENSG00000243232; -.
DR eggNOG; KOG3594; Eukaryota.
DR GeneTree; ENSGT00940000160554; -.
DR HOGENOM; CLU_006480_0_0_1; -.
DR InParanoid; Q9Y5I4; -.
DR OMA; AGICNWI; -.
DR OrthoDB; 64478at2759; -.
DR PhylomeDB; Q9Y5I4; -.
DR TreeFam; TF332299; -.
DR PathwayCommons; Q9Y5I4; -.
DR SignaLink; Q9Y5I4; -.
DR BioGRID-ORCS; 56134; 9 hits in 1020 CRISPR screens.
DR GeneWiki; PCDHAC2; -.
DR GenomeRNAi; 56134; -.
DR Pharos; Q9Y5I4; Tdark.
DR PRO; PR:Q9Y5I4; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9Y5I4; protein.
DR Bgee; ENSG00000243232; Expressed in cortical plate and 100 other tissues.
DR Genevisible; Q9Y5I4; 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; TAS:ProtInc.
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 InterPro; IPR030726; PCDHAC2.
DR PANTHER; PTHR24028:SF119; PTHR24028:SF119; 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; SSF49313; 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..42
FT /evidence="ECO:0000255"
FT CHAIN 43..1007
FT /note="Protocadherin alpha-C2"
FT /id="PRO_0000003912"
FT TOPO_DOM 43..708
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 709..729
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 730..1007
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 43..148
FT /note="Cadherin 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 149..257
FT /note="Cadherin 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 258..365
FT /note="Cadherin 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 374..469
FT /note="Cadherin 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 470..579
FT /note="Cadherin 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT DOMAIN 594..691
FT /note="Cadherin 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00043"
FT REPEAT 856..859
FT /note="PXXP 1"
FT REPEAT 889..892
FT /note="PXXP 2"
FT REPEAT 930..933
FT /note="PXXP 3"
FT REPEAT 948..951
FT /note="PXXP 4"
FT REGION 856..951
FT /note="4 X 4 AA repeats of P-X-X-P"
FT REGION 885..1007
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 916..930
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 955..969
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 992..1007
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 280
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 436
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 586
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 657
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 856..884
FT /note="PRQPNPDWRYSASLRAGMHSSVHLEEAGI -> VRQWSGGLLQTHAFVTHPP
FT ISCDLALLSH (in isoform Short)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_000701"
FT VAR_SEQ 885..1007
FT /note="Missing (in isoform Short)"
FT /evidence="ECO:0000303|PubMed:10380929,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_000702"
SQ SEQUENCE 1007 AA; 109450 MW; 39BF2356923E3B67 CRC64;
MEQAGTRPAA TEHPRLRRPM PWLLLLPLLL LLLLLLPGPA ASQLRYSVPE EQAPGALVGN
VARALGLELR RLGPGCLRIN HLGAPSPRYL ELDLTSGALF VNERIDREAL CEQRPRCLLS
LEVLAHNPVA VSAVEVEILD INDNSPRFPR PNYQLQVSES VAPGARFHIE SAQDPDVGAN
SVQTYELSPS EHFELDLKPL QENSKVLELV LRKGLDREQA ALHHLVLTAV DGGIPARSGT
AQISVRVLDT NDNSPAFDQS TYRVQLREDS PPGTLVVKLN ASDPDEGSNG ELRYSLSSYT
SDRERQLFSI DASTGEVRVI GGLDYEEASS YQIYVQATDR GPVPMAGHCK VLVDIVDVND
NAPEVVLTDL YSPVPENATP NTIVAVLSVN DQDSGPNRKV SLGLEATLPF RLNGFGNSYT
LVVSGPLDRE RVAVYNITVT ATDGGIPQLT SLRTLKVEIS DINDNPPSFL EDSYSIYIQE
NNLPGVLLCT VQATDPDEKE NAEVTYSLLE REIQGLPVTS YVSINSASGS LYAVNSFDYE
KFREFFVTVE AQDKGSPPLS STVTANVYVV DMNDHAPHIL YPTSTNSSAA FEMVPRTAPA
GYLVTKVIAM DSDSGQNAWL FYHLAQTSDL DLFKVELHTG EIRTTRKMGD ESGSTFNLTV
VVRDNGEPSL SASVAITVAV VDRVSKILPD TQRHVKSPRT YSEITLYLII ALSTVSFIFL
LTIIILSIIK CYRYTAYGTA CCGGFCGVRE RSPAELYKQA NNNIDARIPH GLKVQPHFIE
VRGNGSLTKT YCYKACLTAG SGSDTFMFYN TGAQTGPGPS GAQAAVTDSR NLTGQSGQNA
GNLIILKNEA VSQNEPRQPN PDWRYSASLR AGMHSSVHLE EAGILRAGPG GPDQQWPTVS
SATPEPEAGE VSPPVGAGVN SNSWTFKYGP GNPKQSGPGE LPDKFIIPGS PAIISIRQEP
TNSQIDKSDF ITFGKKEETK KKKKKKKGNK TQEKKEKGNS TTDNSDQ
