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Protein

Cadherin-related family member 2

Gene

CDHR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processCell adhesion, Differentiation
LigandCalcium

Protein family/group databases

MoonDBiQ9BYE9 Predicted

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

EuPathDBiHostDB:ENSG00000074276.10
HGNCiHGNC:18231 CDHR2
neXtProtiNX_Q9BYE9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ9BYE9
PaxDbiQ9BYE9
PeptideAtlasiQ9BYE9
PRIDEiQ9BYE9
ProteomicsDBi79633

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 Expressed in 120 organ(s), highest expression level in jejunal mucosa
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120179, 10 interactors
IntActiQ9BYE9, 4 interactors
STRINGi9606.ENSP00000261944

Structurei

Secondary structure

11310
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00920000149083
HOGENOMiHOG000115467
HOVERGENiHBG053524
InParanoidiQ9BYE9
KOiK16502
OMAiNVICTKA
OrthoDBiEOG091G00MF
PhylomeDBiQ9BYE9
TreeFamiTF332908

Family and domain databases

InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR030276 CDHR2
PANTHERiPTHR44787 PTHR44787, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 6 hits
PRINTSiPR00205 CADHERIN
SMARTiView protein in SMART
SM00112 CA, 9 hits
SUPFAMiSSF49313 SSF49313, 9 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 7 hits
PS50268 CADHERIN_2, 9 hits

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6REJ3D6REJ3_HUMAN
Cadherin-related family member 2
CDHR2
62Annotation score:

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 dbSNP:rs6886860Ensembl.1
Natural variantiVAR_046696415A → G. Corresponds to variant dbSNP:rs3762960Ensembl.1
Natural variantiVAR_046697424V → A3 PublicationsCorresponds to variant dbSNP:rs11134982Ensembl.1
Natural variantiVAR_046698766L → P. Corresponds to variant dbSNP:rs752138Ensembl.1
Natural variantiVAR_046699901T → M. Corresponds to variant dbSNP:rs35018750Ensembl.1
Natural variantiVAR_046700948V → M. Corresponds to variant dbSNP:rs3749625Ensembl.1
Natural variantiVAR_0541481004P → L Found in an acute myeloid leukemia sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs371676123Ensembl.1
Natural variantiVAR_0467011128T → M3 PublicationsCorresponds to variant dbSNP:rs2291442Ensembl.1
Natural variantiVAR_0215481164L → M1 PublicationCorresponds to variant dbSNP:rs17078347Ensembl.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

Similar proteinsi

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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CZRX-ray2.30A/B/C/D21-237[»]
ProteinModelPortaliQ9BYE9
SMRiQ9BYE9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120179, 10 interactors
IntActiQ9BYE9, 4 interactors
STRINGi9606.ENSP00000261944

Protein family/group databases

MoonDBiQ9BYE9 Predicted

PTM databases

iPTMnetiQ9BYE9
PhosphoSitePlusiQ9BYE9

Polymorphism and mutation databases

BioMutaiCDHR2
DMDMi209572658

Proteomic databases

MaxQBiQ9BYE9
PaxDbiQ9BYE9
PeptideAtlasiQ9BYE9
PRIDEiQ9BYE9
ProteomicsDBi79633

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
EuPathDBiHostDB:ENSG00000074276.10
GeneCardsiCDHR2
HGNCiHGNC:18231 CDHR2
HPAiHPA012569
HPA017053
neXtProtiNX_Q9BYE9
OpenTargetsiENSG00000074276
PharmGKBiPA165660231
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00920000149083
HOGENOMiHOG000115467
HOVERGENiHBG053524
InParanoidiQ9BYE9
KOiK16502
OMAiNVICTKA
OrthoDBiEOG091G00MF
PhylomeDBiQ9BYE9
TreeFamiTF332908

Miscellaneous databases

GeneWikiiPCLKC
GenomeRNAii54825
PROiPR:Q9BYE9

Gene expression databases

BgeeiENSG00000074276 Expressed in 120 organ(s), highest expression level in jejunal mucosa
CleanExiHS_PCDH24
ExpressionAtlasiQ9BYE9 baseline and differential
GenevisibleiQ9BYE9 HS

Family and domain databases

InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR030276 CDHR2
PANTHERiPTHR44787 PTHR44787, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 6 hits
PRINTSiPR00205 CADHERIN
SMARTiView protein in SMART
SM00112 CA, 9 hits
SUPFAMiSSF49313 SSF49313, 9 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 7 hits
PS50268 CADHERIN_2, 9 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCDHR2_HUMAN
AccessioniPrimary (citable) accession number: Q9BYE9
Secondary accession number(s): A1L3U4, A6NC80, Q9NXP8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: October 14, 2008
Last modified: November 7, 2018
This is version 146 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  5. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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