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Protein

Cadherin-related family member 2

Gene

CDHR2

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

Functioni

Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR5 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation (PubMed:24725409). May also play a role in cell-cell adhesion and contact inhibition in epithelial cells (PubMed:12117771).2 Publications

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • cell adhesion molecule binding Source: UniProtKB

GO - Biological processi

  • cell-cell adhesion mediated by cadherin Source: UniProtKB
  • epithelial cell differentiation Source: UniProtKB
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • intermicrovillar adhesion Source: UniProtKB
  • negative regulation of cell growth involved in contact inhibition Source: UniProtKB
  • regulation of microvillus length Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cell adhesion, Differentiation

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000074276-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Cadherin-related family member 2Curated
Alternative name(s):
Protocadherin LKC1 Publication
Short name:
PC-LKC1 Publication
Protocadherin-241 Publication
Gene namesi
Name:CDHR2Imported
Synonyms:PCDH241 Publication, PCLKC1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:18231. CDHR2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini21 – 1154ExtracellularSequence analysisAdd BLAST1134
Transmembranei1155 – 1175HelicalSequence analysisAdd BLAST21
Topological domaini1176 – 1310CytoplasmicSequence analysisAdd BLAST135

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • brush border Source: UniProtKB
  • brush border membrane Source: UniProtKB
  • cell junction Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • microvillus membrane Source: UniProtKB
  • spanning component of plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1310L → R: Loss of interaction with USH1C. 1 Publication1

Organism-specific databases

DisGeNETi54825.
OpenTargetsiENSG00000074276.
PharmGKBiPA165660231.

Polymorphism and mutation databases

BioMutaiCDHR2.
DMDMi209572658.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000000401121 – 1310Cadherin-related family member 2Add BLAST1290

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi29N-linked (GlcNAc...)Sequence analysis1
Glycosylationi134N-linked (GlcNAc...)Sequence analysis1
Glycosylationi182N-linked (GlcNAc...)Sequence analysis1
Glycosylationi188N-linked (GlcNAc...)Sequence analysis1
Glycosylationi195N-linked (GlcNAc...)Sequence analysis1
Glycosylationi300N-linked (GlcNAc...)Sequence analysis1
Glycosylationi355N-linked (GlcNAc...)Sequence analysis1
Glycosylationi371N-linked (GlcNAc...)Sequence analysis1
Glycosylationi401N-linked (GlcNAc...)Sequence analysis1
Glycosylationi460N-linked (GlcNAc...)Sequence analysis1
Glycosylationi565N-linked (GlcNAc...)Sequence analysis1
Glycosylationi600N-linked (GlcNAc...)Sequence analysis1
Glycosylationi616N-linked (GlcNAc...)Sequence analysis1
Glycosylationi632N-linked (GlcNAc...)Sequence analysis1
Glycosylationi680N-linked (GlcNAc...)Sequence analysis1
Glycosylationi696N-linked (GlcNAc...)Sequence analysis1
Glycosylationi701N-linked (GlcNAc...)Sequence analysis1
Glycosylationi775N-linked (GlcNAc...)Sequence analysis1
Glycosylationi821N-linked (GlcNAc...)Sequence analysis1
Glycosylationi871N-linked (GlcNAc...)Sequence analysis1
Glycosylationi877N-linked (GlcNAc...)Sequence analysis1
Glycosylationi911N-linked (GlcNAc...)Sequence analysis1
Glycosylationi932N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1107N-linked (GlcNAc...)Sequence analysis1
Modified residuei1248PhosphoserineCombined sources1
Modified residuei1299PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ9BYE9.
PaxDbiQ9BYE9.
PeptideAtlasiQ9BYE9.
PRIDEiQ9BYE9.

PTM databases

iPTMnetiQ9BYE9.
PhosphoSitePlusiQ9BYE9.

Expressioni

Tissue specificityi

Highly expressed in liver, kidney and colon. Moderately expressed in small intestine. Down-regulated in a number of liver and colon cancers (PubMed:12117771, PubMed:15534908). Expressed in duodenum with higher expression in enterocytes along the villus axis and lower expression in crypts (at protein level) (PubMed:24725409).3 Publications

Gene expression databases

BgeeiENSG00000074276.
CleanExiHS_PCDH24.
ExpressionAtlasiQ9BYE9. baseline and differential.
GenevisibleiQ9BYE9. HS.

Organism-specific databases

HPAiHPA012569.
HPA017053.

Interactioni

Subunit structurei

Part of the IMAC/intermicrovillar adhesion complex/intermicrovillar tip-link complex composed of ANKS4B, MYO7B, USH1C, CDHR2 and CDHR5 (PubMed:26812018). Interacts with MAST2 (PubMed:12117771). Interacts (via cytoplasmic domain) with USH1C and MYO7B; required for proper localization of CDHR2 to microvilli tips and its function in brush border differentiation (PubMed:24725409, PubMed:26812017).4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CDHR5Q9HBB8-13EBI-493793,EBI-9540729
CDHR5Q9HBB8-23EBI-493793,EBI-9629917
MAST2Q6P0Q84EBI-493793,EBI-493777
MYO7BQ6PIF63EBI-493793,EBI-4400912
USH1CQ9Y6N9-12EBI-493793,EBI-9541226

GO - Molecular functioni

  • cell adhesion molecule binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120179. 1 interactor.
IntActiQ9BYE9. 4 interactors.
STRINGi9606.ENSP00000261944.

Structurei

3D structure databases

ProteinModelPortaliQ9BYE9.
SMRiQ9BYE9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini27 – 124Cadherin 1PROSITE-ProRule annotationAdd BLAST98
Domaini125 – 241Cadherin 2PROSITE-ProRule annotationAdd BLAST117
Domaini242 – 353Cadherin 3PROSITE-ProRule annotationAdd BLAST112
Domaini368 – 480Cadherin 4PROSITE-ProRule annotationAdd BLAST113
Domaini481 – 586Cadherin 5PROSITE-ProRule annotationAdd BLAST106
Domaini586 – 695Cadherin 6PROSITE-ProRule annotationAdd BLAST110
Domaini696 – 808Cadherin 7PROSITE-ProRule annotationAdd BLAST113
Domaini810 – 928Cadherin 8PROSITE-ProRule annotationAdd BLAST119
Domaini930 – 1058Cadherin 9PROSITE-ProRule annotationAdd BLAST129

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1180 – 1310Mediates interaction with USH1C and MYO7B and is required for proper localization to microvilli tips and function in microvilli organization1 PublicationAdd BLAST131

Domaini

The cadherin 1 domain is required for binding to CDHR5.1 Publication

Sequence similaritiesi

Contains 9 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00850000132327.
HOGENOMiHOG000115467.
HOVERGENiHBG053524.
InParanoidiQ9BYE9.
KOiK16502.
OMAiCSLPACT.
OrthoDBiEOG091G00MF.
PhylomeDBiQ9BYE9.
TreeFamiTF332908.

Family and domain databases

Gene3Di2.60.40.60. 9 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR030276. CDHR2.
[Graphical view]
PANTHERiPTHR24027:SF312. PTHR24027:SF312. 3 hits.
PfamiPF00028. Cadherin. 6 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 9 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 9 hits.
PROSITEiPS00232. CADHERIN_1. 7 hits.
PS50268. CADHERIN_2. 9 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9BYE9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAQLWLSCFL LPALVVSVAA NVAPKFLANM TSVILPEDLP VGAQAFWLVA
60 70 80 90 100
EDQDNDPLTY GMSGPNAYFF AVTPKTGEVK LASALDYETL YTFKVTISVS
110 120 130 140 150
DPYIQVQREM LVIVEDRNDN APVFQNTAFS TSINETLPVG SVVFSVLAVD
160 170 180 190 200
KDMGSAGMVV YSIEKVIPST GDSEHLFRIL ANGSIVLNGS LSYNNKSAFY
210 220 230 240 250
QLELKACDLG GMYHNTFTIQ CSLPVFLSIS VVDQPDLDPQ FVREFYSASV
260 270 280 290 300
AEDAAKGTSV LTVEAVDGDK GINDPVIYSI SYSTRPGWFD IGADGVIRVN
310 320 330 340 350
GSLDREQLLE ADEEVQLQVT ATETHLNIYG QEAKVSIWVT VRVMDVNDHK
360 370 380 390 400
PEFYNCSLPA CTFTPEEAQV NFTGYVDEHA SPRIPIDDLT MVVYDPDKGS
410 420 430 440 450
NGTFLLSLGG PDAEAFSVSP ERAVGSASVQ VLVRVSALVD YERQTAMAVQ
460 470 480 490 500
VVATDSVSQN FSVAMVTIHL RDINDHRPTF PQSLYVLTVP EHSATGSVVT
510 520 530 540 550
DSIHATDPDT GAWGQITYSL LPGNGADLFQ VDPVSGTVTV RNGELLDRES
560 570 580 590 600
QAVYYLTLQA TDGGNLSSST TLQIHLLDIN DNAPVVSGSY NIFVQEEEGN
610 620 630 640 650
VSVTIQAHDN DEPGTNNSRL LFNLLPGPYS HNFSLDPDTG LLRNLGPLDR
660 670 680 690 700
EAIDPALEGR IVLTVLVSDC GEPVLGTKVN VTITVEDIND NLPIFNQSSY
710 720 730 740 750
NFTVKEEDPG VLVGVVKAWD ADQTEANNRI SFSLSGSGAN YFMIRGLVLG
760 770 780 790 800
AGWAEGYLRL PPDVSLDYET QPVFNLTVSA ENPDPQGGET IVDVCVNVKD
810 820 830 840 850
VNDNPPTLDV ASLRGIRVAE NGSQHGQVAV VVASDVDTSA QLEIQLVNIL
860 870 880 890 900
CTKAGVDVGS LCWGWFSVAA NGSVYINQSK AIDYEACDLV TLVVRACDLA
910 920 930 940 950
TDPGFQAYSN NGSLLITIED VNDNAPYFLP ENKTFVIIPE LVLPNREVAS
960 970 980 990 1000
VRARDDDSGN NGVILFSILR VDFISKDGAT IPFQGVFSIF TSSEADVFAG
1010 1020 1030 1040 1050
SIQPVTSLDS TLQGTYQVTV QARDRPSLGP FLEATTTLNL FTVDQSYRSR
1060 1070 1080 1090 1100
LQFSTPKEEV GANRQAINAA LTQATRTTVY IVDIQDIDSA ARARPHSYLD
1110 1120 1130 1140 1150
AYFVFPNGSA LTLDELSVMI RNDQDSLTQL LQLGLVVLGS QESQESDLSK
1160 1170 1180 1190 1200
QLISVIIGLG VALLLVLVIM TMAFVCVRKS YNRKLQAMKA AKEARKTAAG
1210 1220 1230 1240 1250
VMPSAPAIPG TNMYNTERAN PMLNLPNKDL GLEYLSPSND LDSVSVNSLD
1260 1270 1280 1290 1300
DNSVDVDKNS QEIKEHRPPH TPPEPDPEPL SVVLLGRQAG ASGQLEGPSY
1310
TNAGLDTTDL
Length:1,310
Mass (Da):141,543
Last modified:October 14, 2008 - v2
Checksum:iE0BC8AEEF8D9E1F2
GO

Sequence cautioni

The sequence BAA90962 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti64G → S in BAB40777 (PubMed:12117771).Curated1
Sequence conflicti1229D → G in BAA90962 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046695107Q → H.Corresponds to variant rs6886860dbSNPEnsembl.1
Natural variantiVAR_046696415A → G.Corresponds to variant rs3762960dbSNPEnsembl.1
Natural variantiVAR_046697424V → A.3 PublicationsCorresponds to variant rs11134982dbSNPEnsembl.1
Natural variantiVAR_046698766L → P.Corresponds to variant rs752138dbSNPEnsembl.1
Natural variantiVAR_046699901T → M.Corresponds to variant rs35018750dbSNPEnsembl.1
Natural variantiVAR_046700948V → M.Corresponds to variant rs3749625dbSNPEnsembl.1
Natural variantiVAR_0541481004P → L Found in an acute myeloid leukemia sample; somatic mutation. 1 PublicationCorresponds to variant rs371676123dbSNPEnsembl.1
Natural variantiVAR_0467011128T → M.3 PublicationsCorresponds to variant rs2291442dbSNPEnsembl.1
Natural variantiVAR_0215481164L → M.1 PublicationCorresponds to variant rs17078347dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB047004 mRNA. Translation: BAB40777.1.
AK000131 mRNA. Translation: BAA90962.1. Different initiation.
AK315055 mRNA. Translation: BAG37531.1.
AC091934 Genomic DNA. No translation available.
BC130282 mRNA. Translation: AAI30283.1.
CCDSiCCDS34297.1.
RefSeqiNP_001165447.1. NM_001171976.1.
NP_060145.3. NM_017675.4.
UniGeneiHs.4205.

Genome annotation databases

EnsembliENST00000261944; ENSP00000261944; ENSG00000074276.
ENST00000506348; ENSP00000421078; ENSG00000074276.
ENST00000510636; ENSP00000424565; ENSG00000074276.
GeneIDi54825.
KEGGihsa:54825.
UCSCiuc003mem.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Protein Spotlight

A tighter mesh - Issue 178 of April 2016

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB047004 mRNA. Translation: BAB40777.1.
AK000131 mRNA. Translation: BAA90962.1. Different initiation.
AK315055 mRNA. Translation: BAG37531.1.
AC091934 Genomic DNA. No translation available.
BC130282 mRNA. Translation: AAI30283.1.
CCDSiCCDS34297.1.
RefSeqiNP_001165447.1. NM_001171976.1.
NP_060145.3. NM_017675.4.
UniGeneiHs.4205.

3D structure databases

ProteinModelPortaliQ9BYE9.
SMRiQ9BYE9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120179. 1 interactor.
IntActiQ9BYE9. 4 interactors.
STRINGi9606.ENSP00000261944.

PTM databases

iPTMnetiQ9BYE9.
PhosphoSitePlusiQ9BYE9.

Polymorphism and mutation databases

BioMutaiCDHR2.
DMDMi209572658.

Proteomic databases

MaxQBiQ9BYE9.
PaxDbiQ9BYE9.
PeptideAtlasiQ9BYE9.
PRIDEiQ9BYE9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261944; ENSP00000261944; ENSG00000074276.
ENST00000506348; ENSP00000421078; ENSG00000074276.
ENST00000510636; ENSP00000424565; ENSG00000074276.
GeneIDi54825.
KEGGihsa:54825.
UCSCiuc003mem.3. human.

Organism-specific databases

CTDi54825.
DisGeNETi54825.
GeneCardsiCDHR2.
HGNCiHGNC:18231. CDHR2.
HPAiHPA012569.
HPA017053.
neXtProtiNX_Q9BYE9.
OpenTargetsiENSG00000074276.
PharmGKBiPA165660231.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00850000132327.
HOGENOMiHOG000115467.
HOVERGENiHBG053524.
InParanoidiQ9BYE9.
KOiK16502.
OMAiCSLPACT.
OrthoDBiEOG091G00MF.
PhylomeDBiQ9BYE9.
TreeFamiTF332908.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000074276-MONOMER.

Miscellaneous databases

GeneWikiiPCLKC.
GenomeRNAii54825.
PROiQ9BYE9.

Gene expression databases

BgeeiENSG00000074276.
CleanExiHS_PCDH24.
ExpressionAtlasiQ9BYE9. baseline and differential.
GenevisibleiQ9BYE9. HS.

Family and domain databases

Gene3Di2.60.40.60. 9 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR030276. CDHR2.
[Graphical view]
PANTHERiPTHR24027:SF312. PTHR24027:SF312. 3 hits.
PfamiPF00028. Cadherin. 6 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 9 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 9 hits.
PROSITEiPS00232. CADHERIN_1. 7 hits.
PS50268. CADHERIN_2. 9 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCDHR2_HUMAN
AccessioniPrimary (citable) accession number: Q9BYE9
Secondary accession number(s): A1L3U4, A6NC80, Q9NXP8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: October 14, 2008
Last modified: November 2, 2016
This is version 133 of the entry and version 2 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. 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.