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Protein

Protocadherin gamma-A2

Gene

PCDHGA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin gamma-A2
Short name:
PCDH-gamma-A2
Gene namesi
Name:PCDHGA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:8700. PCDHGA2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini29 – 692664ExtracellularSequence analysisAdd
BLAST
Transmembranei693 – 71321HelicalSequence analysisAdd
BLAST
Topological domaini714 – 932219CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33048.

Polymorphism and mutation databases

BioMutaiPCDHGA2.
DMDMi37999841.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2828Sequence analysisAdd
BLAST
Chaini29 – 932904Protocadherin gamma-A2PRO_0000003950Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi419 – 4191N-linked (GlcNAc...)Sequence analysis
Glycosylationi545 – 5451N-linked (GlcNAc...)Sequence analysis
Glycosylationi685 – 6851N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9Y5H1.
PaxDbiQ9Y5H1.
PRIDEiQ9Y5H1.

PTM databases

iPTMnetiQ9Y5H1.
PhosphoSiteiQ9Y5H1.

Expressioni

Gene expression databases

BgeeiQ9Y5H1.
GenevisibleiQ9Y5H1. HS.

Organism-specific databases

HPAiHPA008755.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000378077.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5H1.
SMRiQ9Y5H1. Positions 31-690.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini29 – 133105Cadherin 1PROSITE-ProRule annotationAdd
BLAST
Domaini134 – 242109Cadherin 2PROSITE-ProRule annotationAdd
BLAST
Domaini243 – 347105Cadherin 3PROSITE-ProRule annotationAdd
BLAST
Domaini348 – 452105Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Domaini453 – 562110Cadherin 5PROSITE-ProRule annotationAdd
BLAST
Domaini570 – 682113Cadherin 6PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 6 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129690.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9Y5H1.
KOiK16495.
OMAiQVAYFLE.
OrthoDBiEOG7KSX80.
PhylomeDBiQ9Y5H1.
TreeFamiTF332299.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR032455. Cadherin_C.
IPR031904. Cadherin_CBD.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
IPR030725. PCDHGA2.
[Graphical view]
PANTHERiPTHR24028:SF134. PTHR24028:SF134. 1 hit.
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
PF16492. Cadherin_C_2. 1 hit.
PF15974. Cadherin_tail. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 6 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 6 hits.
PROSITEiPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y5H1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAALQKLPHC RKLVLLCFLL ATLWEARAGQ IRYSVREEID RGSFVGNIAK
60 70 80 90 100
DLGLEPLALA EQGVRIVSRG RSQLFALNPR SGSLVTANRI DREELCAQSA
110 120 130 140 150
PCLLNFNILL EDKLTIYSVE VEITDINDNA PRFGVEELEL KISETTTPGF
160 170 180 190 200
RIPLKNAHDA DVGENALQKY ALNPNDHFSL DVRRGADGNK YPELVLERSL
210 220 230 240 250
DREEEAVHHL VLVASDGGDP VLSGTSRICV KVLDANDNAP VFTQPEYRIS
260 270 280 290 300
IPENTLVGTR ILTVTATDAD EGYYAQVVYF LEKSPGETSE VFELKSTSGE
310 320 330 340 350
LTIIKDLDYE DATFHEIDIE AQDGPGLLTR AKVIVTVLDV NDNAPEFYMT
360 370 380 390 400
SATSSVSEDS LPGTIIGLFN VHDRDSGQNA FTTCSLPEDL PFKLEKSVDN
410 420 430 440 450
YYRLVTTRAL DREQFSFYNI TLTAKDGGNP SLSTDAHILL QVADINDNAP
460 470 480 490 500
AFSRTSYSTY IPENNPRGAS VFSVTAHDPD SNDNAHVTYS FAEDTVQGAP
510 520 530 540 550
LSSYISINSD TGVLYALRSF DYEQLRDLQV WVIARDSGNP PLSSNVSLSL
560 570 580 590 600
FVLDQNDNAP EILYPAFPTD GSTGVELAPR SAEPGYLVTK VVAVDRDSGQ
610 620 630 640 650
NAWLSYHLLK ASEPGLFSVG LHTGEVRTAR ALLDRDALKQ SLVVAIQDHG
660 670 680 690 700
QPPLSATVTL TVAVADRIPD ILADLGSLEP SAIPNDSDLT LYLVVAVAAV
710 720 730 740 750
SCVFLAFVIV LLAHRLRRWH KSRLLQASGG SLTGMQSSHF VGVDGVRAFL
760 770 780 790 800
QTYSHEVSLT ADSRKSHLIF PQPNYADTLI SQESCEKKDF LSAPQSLLEE
810 820 830 840 850
EREETFSQQA PPNTDWRFSQ AQRPGTSGSQ NGDDTGTWPN NQFDTEMLQA
860 870 880 890 900
MILASASEAA DGSSTLGGGA GTMGLSARYG PQFTLQHVPD YRQNVYIPGS
910 920 930
NATLTNAAGK RDGKAPAGGN GNKKKSGKKE KK
Length:932
Mass (Da):101,484
Last modified:November 1, 1999 - v1
Checksum:i19FE96244C0AB248
GO
Isoform 2 (identifier: Q9Y5H1-2) [UniParc]FASTAAdd to basket

Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     809-823: QAPPNTDWRFSQAQR → VIYLFTTYVLASLLK
     824-932: Missing.

Show »
Length:823
Mass (Da):90,284
Checksum:i9149FDC3C4004377
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51Q → R.
Corresponds to variant rs6878145 [ dbSNP | Ensembl ].
VAR_048556

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei809 – 82315QAPPN…SQAQR → VIYLFTTYVLASLLK in isoform 2. 2 PublicationsVSP_008661Add
BLAST
Alternative sequencei824 – 932109Missing in isoform 2. 2 PublicationsVSP_008662Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152322 mRNA. Translation: AAD43716.1.
AF152508 mRNA. Translation: AAD43769.1.
CH471062 Genomic DNA. Translation: EAW61941.1.
BC093871 mRNA. Translation: AAH93871.1.
BC104950 mRNA. Translation: AAI04951.1.
CCDSiCCDS47289.1. [Q9Y5H1-1]
RefSeqiNP_061738.1. NM_018915.3. [Q9Y5H1-1]
NP_114398.1. NM_032009.2. [Q9Y5H1-2]
UniGeneiHs.368160.

Genome annotation databases

EnsembliENST00000394576; ENSP00000378077; ENSG00000081853. [Q9Y5H1-1]
ENST00000528330; ENSP00000483020; ENSG00000081853. [Q9Y5H1-2]
GeneIDi56113.
KEGGihsa:56113.
UCSCiuc003ljk.4. human. [Q9Y5H1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152322 mRNA. Translation: AAD43716.1.
AF152508 mRNA. Translation: AAD43769.1.
CH471062 Genomic DNA. Translation: EAW61941.1.
BC093871 mRNA. Translation: AAH93871.1.
BC104950 mRNA. Translation: AAI04951.1.
CCDSiCCDS47289.1. [Q9Y5H1-1]
RefSeqiNP_061738.1. NM_018915.3. [Q9Y5H1-1]
NP_114398.1. NM_032009.2. [Q9Y5H1-2]
UniGeneiHs.368160.

3D structure databases

ProteinModelPortaliQ9Y5H1.
SMRiQ9Y5H1. Positions 31-690.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000378077.

PTM databases

iPTMnetiQ9Y5H1.
PhosphoSiteiQ9Y5H1.

Polymorphism and mutation databases

BioMutaiPCDHGA2.
DMDMi37999841.

Proteomic databases

EPDiQ9Y5H1.
PaxDbiQ9Y5H1.
PRIDEiQ9Y5H1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000394576; ENSP00000378077; ENSG00000081853. [Q9Y5H1-1]
ENST00000528330; ENSP00000483020; ENSG00000081853. [Q9Y5H1-2]
GeneIDi56113.
KEGGihsa:56113.
UCSCiuc003ljk.4. human. [Q9Y5H1-1]

Organism-specific databases

CTDi56113.
GeneCardsiPCDHGA2.
HGNCiHGNC:8700. PCDHGA2.
HPAiHPA008755.
MIMi604968. gene.
606289. gene.
neXtProtiNX_Q9Y5H1.
PharmGKBiPA33048.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129690.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9Y5H1.
KOiK16495.
OMAiQVAYFLE.
OrthoDBiEOG7KSX80.
PhylomeDBiQ9Y5H1.
TreeFamiTF332299.

Miscellaneous databases

GenomeRNAii56113.
NextBioi61591.
PROiQ9Y5H1.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y5H1.
GenevisibleiQ9Y5H1. HS.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR032455. Cadherin_C.
IPR031904. Cadherin_CBD.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
IPR030725. PCDHGA2.
[Graphical view]
PANTHERiPTHR24028:SF134. PTHR24028:SF134. 1 hit.
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
PF16492. Cadherin_C_2. 1 hit.
PF15974. Cadherin_tail. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 6 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 6 hits.
PROSITEiPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A striking organization of a large family of human neural cadherin-like cell adhesion genes."
    Wu Q., Maniatis T.
    Cell 97:779-790(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.

Entry informationi

Entry nameiPCDG2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5H1
Secondary accession number(s): Q52LL6, Q9Y5D5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: November 1, 1999
Last modified: May 11, 2016
This is version 130 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.