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Protein

Protocadherin alpha-2

Gene

PCDHA2

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

  • cell adhesion Source: ProtInc
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • nervous system development Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin alpha-2
Short name:
PCDH-alpha-2
Gene namesi
Name:PCDHA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:8668. PCDHA2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 697675ExtracellularSequence analysisAdd
BLAST
Transmembranei698 – 71821HelicalSequence analysisAdd
BLAST
Topological domaini719 – 948230CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum Source: Ensembl
  • integral component of plasma membrane Source: ProtInc
  • nucleus Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33014.

Polymorphism and mutation databases

BioMutaiPCDHA2.
DMDMi13878430.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 22221 PublicationAdd
BLAST
Chaini23 – 948926Protocadherin alpha-2PRO_0000003886Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi257 – 2571N-linked (GlcNAc...)Sequence analysis
Glycosylationi265 – 2651N-linked (GlcNAc...)Sequence analysis
Glycosylationi362 – 3621N-linked (GlcNAc...)Sequence analysis
Glycosylationi548 – 5481N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9Y5H9.
PeptideAtlasiQ9Y5H9.
PRIDEiQ9Y5H9.

PTM databases

iPTMnetiQ9Y5H9.
PhosphoSiteiQ9Y5H9.

Expressioni

Gene expression databases

BgeeiENSG00000204969.
GenevisibleiQ9Y5H9. HS.

Organism-specific databases

HPAiHPA035653.

Interactioni

Protein-protein interaction databases

BioGridi121086. 10 interactions.
IntActiQ9Y5H9. 1 interaction.
STRINGi9606.ENSP00000431748.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5H9.
SMRiQ9Y5H9. Positions 27-667.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini30 – 133104Cadherin 1PROSITE-ProRule annotationAdd
BLAST
Domaini157 – 24286Cadherin 2PROSITE-ProRule annotationAdd
BLAST
Domaini243 – 350108Cadherin 3PROSITE-ProRule annotationAdd
BLAST
Domaini351 – 455105Cadherin 4PROSITE-ProRule annotationAdd
BLAST
Domaini456 – 565110Cadherin 5PROSITE-ProRule annotationAdd
BLAST
Domaini588 – 67891Cadherin 6PROSITE-ProRule annotationAdd
BLAST
Repeati734 – 7374PXXP 1
Repeati797 – 8004PXXP 2
Repeati830 – 8334PXXP 3
Repeati871 – 8744PXXP 4
Repeati889 – 8924PXXP 5

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni734 – 8921595 X 4 AA repeats of P-X-X-PAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi921 – 9288Poly-Lys

Sequence similaritiesi

Contains 6 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129695.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9Y5H9.
KOiK16493.
OMAiECSIHVE.
OrthoDBiEOG091G00KR.
PhylomeDBiQ9Y5H9.
TreeFamiTF332299.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR031904. Cadherin_CBD.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_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 (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y5H9-1) [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
MASSIRRGRG AWTRLLSLLL LAAWEVGSGQ LRYSVPEEAK HGTFVGRIAQ
60 70 80 90 100
DLGLELEELV PRLFRVASKR HGDLLEVNLQ NGILFVNSRI DREELCGRSA
110 120 130 140 150
ECSIHVEVIV DRPLQVFHVE VEVKDINDNP PIFPMTVKTI RFPESRLLDS
160 170 180 190 200
RFPLEGASDA DIGVNALLSY KLSSSEFFFL DIQANDELSE SLSLVLGKSL
210 220 230 240 250
DREETAEVNL LLVATDGGKP ELTGTVQILI KVLDVNDNEP TFAQSVYKVK
260 270 280 290 300
LLENTANGTL VVKLNASDAD EGPNSEIVYS LGSDVSSTIQ TKFTIDPISG
310 320 330 340 350
EIRTKGKLDY EEAKSYEIQV TATDKGTPSM SGHCKISLKL VDINDNTPEV
360 370 380 390 400
SITSLSLPIS ENASLGTVIA LITVSDRDSG TNGHVTCSLT PHVPFKLVST
410 420 430 440 450
FKNYYSLVLD SALDRESVSA YELVVTARDG GSPSLWATTS VSIEVADVND
460 470 480 490 500
NAPAFAQPEY TVFVKENNPP GCHIFTVSAW DADAQENALV SYSLVERRVG
510 520 530 540 550
ERALSSYVSV HAESGKVYAL QPLDHEEVEL LQFQVSARDA GVPPLGSNVT
560 570 580 590 600
LQVFVLDEND NAPALLAPRA GTAAGAVSEL VPWSVGAGHV VAKVRAVDAD
610 620 630 640 650
SGYNAWLSYE LQLGTGSARI PFRVGLYTGE ISTTRALDEA DSPRHRLLVL
660 670 680 690 700
VKDHGEPALT ATATVLVSLV ESGQAPKASS RAWVGAAGSE ATLVDVNVYL
710 720 730 740 750
IIAICAVSSL LVLTVLLYTA LRCSVPPTEG ARAPGKPTLV CSSAVGSWSY
760 770 780 790 800
SQQRRQRVCS GEDPPKTDLM AFSPSLSQGP DSAEEKQLSE SEYVGKPRQP
810 820 830 840 850
NPDWRYSASL RAGMHSSVHL EEAGILRAGP GGPDQQWPTV SSATPEPEAG
860 870 880 890 900
EVSPPVGAGV NSNSWTFKYG PGNPKQSGPG ELPDKFIIPG SPAIISIRQE
910 920 930 940
PTNSQIDKSD FITFGKKEET KKKKKKKKGN KTQEKKEKGN STTDNSDQ
Length:948
Mass (Da):102,063
Last modified:November 1, 1999 - v1
Checksum:i8D2E9644982AE59E
GO
Isoform 2 (identifier: Q9Y5H9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     797-824: PRQPNPDWRYSASLRAGMHSSVHLEEAG → VSLLLFLANSKIVLFKKFYMISTSYLDS
     825-948: Missing.

Show »
Length:824
Mass (Da):88,867
Checksum:iDF8CEA0DE1ACA25D
GO
Isoform 3 (identifier: Q9Y5H9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     797-808: PRQPNPDWRYSA → IWNFNLQIQLAS
     809-948: Missing.

Note: No experimental confirmation available.
Show »
Length:808
Mass (Da):87,071
Checksum:iD24E04FEE1207EA1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251E → K.
Corresponds to variant rs9686540 [ dbSNP | Ensembl ].
VAR_059179
Natural varianti106 – 1061V → L.
Corresponds to variant rs11167600 [ dbSNP | Ensembl ].
VAR_024389
Natural varianti764 – 7641P → L.
Corresponds to variant rs6858913 [ dbSNP | Ensembl ].
VAR_048523

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei797 – 82428PRQPN…LEEAG → VSLLLFLANSKIVLFKKFYM ISTSYLDS in isoform 2. 1 PublicationVSP_000673Add
BLAST
Alternative sequencei797 – 80812PRQPN…WRYSA → IWNFNLQIQLAS in isoform 3. 1 PublicationVSP_008040Add
BLAST
Alternative sequencei809 – 948140Missing in isoform 3. 1 PublicationVSP_008041Add
BLAST
Alternative sequencei825 – 948124Missing in isoform 2. 1 PublicationVSP_000674Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152310 mRNA. Translation: AAD43704.1.
AF152480 mRNA. Translation: AAD43741.1.
AC005609 Genomic DNA. Translation: AAC34324.1.
BC003126 mRNA. Translation: AAH03126.1.
CCDSiCCDS54914.1. [Q9Y5H9-1]
CCDS64269.1. [Q9Y5H9-3]
RefSeqiNP_061728.1. NM_018905.2. [Q9Y5H9-1]
NP_113683.1. NM_031495.1. [Q9Y5H9-2]
NP_113684.1. NM_031496.1. [Q9Y5H9-3]
UniGeneiHs.199343.

Genome annotation databases

EnsembliENST00000378132; ENSP00000367372; ENSG00000204969. [Q9Y5H9-2]
ENST00000520672; ENSP00000430584; ENSG00000204969. [Q9Y5H9-3]
ENST00000526136; ENSP00000431748; ENSG00000204969. [Q9Y5H9-1]
GeneIDi56146.
KEGGihsa:56146.
UCSCiuc003lhc.2. human. [Q9Y5H9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF152310 mRNA. Translation: AAD43704.1.
AF152480 mRNA. Translation: AAD43741.1.
AC005609 Genomic DNA. Translation: AAC34324.1.
BC003126 mRNA. Translation: AAH03126.1.
CCDSiCCDS54914.1. [Q9Y5H9-1]
CCDS64269.1. [Q9Y5H9-3]
RefSeqiNP_061728.1. NM_018905.2. [Q9Y5H9-1]
NP_113683.1. NM_031495.1. [Q9Y5H9-2]
NP_113684.1. NM_031496.1. [Q9Y5H9-3]
UniGeneiHs.199343.

3D structure databases

ProteinModelPortaliQ9Y5H9.
SMRiQ9Y5H9. Positions 27-667.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121086. 10 interactions.
IntActiQ9Y5H9. 1 interaction.
STRINGi9606.ENSP00000431748.

PTM databases

iPTMnetiQ9Y5H9.
PhosphoSiteiQ9Y5H9.

Polymorphism and mutation databases

BioMutaiPCDHA2.
DMDMi13878430.

Proteomic databases

PaxDbiQ9Y5H9.
PeptideAtlasiQ9Y5H9.
PRIDEiQ9Y5H9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378132; ENSP00000367372; ENSG00000204969. [Q9Y5H9-2]
ENST00000520672; ENSP00000430584; ENSG00000204969. [Q9Y5H9-3]
ENST00000526136; ENSP00000431748; ENSG00000204969. [Q9Y5H9-1]
GeneIDi56146.
KEGGihsa:56146.
UCSCiuc003lhc.2. human. [Q9Y5H9-1]

Organism-specific databases

CTDi56146.
GeneCardsiPCDHA2.
HGNCiHGNC:8668. PCDHA2.
HPAiHPA035653.
MIMi604966. gene.
606308. gene.
neXtProtiNX_Q9Y5H9.
PharmGKBiPA33014.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00840000129695.
HOGENOMiHOG000220892.
HOVERGENiHBG054878.
InParanoidiQ9Y5H9.
KOiK16493.
OMAiECSIHVE.
OrthoDBiEOG091G00KR.
PhylomeDBiQ9Y5H9.
TreeFamiTF332299.

Miscellaneous databases

GeneWikiiPCDHA2.
GenomeRNAii56146.
PROiQ9Y5H9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204969.
GenevisibleiQ9Y5H9. HS.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR031904. Cadherin_CBD.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_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...

Entry informationi

Entry nameiPCDA2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5H9
Secondary accession number(s): O75287, Q9BTV3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1999
Last modified: September 7, 2016
This is version 145 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, Direct protein sequencing, 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.