Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54798
Gene name	Dachsous cadherin-related 2
Gene symbol	DCHS2
Synonyms (NCBI Gene)	CDH27CDHJCDHR7PCDH23PCDHJ
Chromosome	4
Chromosome location	4q31.3
Summary	This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimer`s disease, compressive strength index, and appendicular lean

Show/Hide all (22)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017262	hsa-miR-335-5p	Microarray	18185580
MIRT029174	hsa-miR-26b-5p	Microarray	19088304
MIRT926006	hsa-miR-3065-5p	CLIP-seq
MIRT926007	hsa-miR-3180-5p	CLIP-seq
MIRT926008	hsa-miR-3616-5p	CLIP-seq
MIRT926009	hsa-miR-3647-5p	CLIP-seq
MIRT926010	hsa-miR-3713	CLIP-seq
MIRT926011	hsa-miR-383	CLIP-seq
MIRT926012	hsa-miR-3926	CLIP-seq
MIRT926013	hsa-miR-421	CLIP-seq
MIRT926014	hsa-miR-4772-5p	CLIP-seq
MIRT926015	hsa-miR-520a-5p	CLIP-seq
MIRT926016	hsa-miR-525-5p	CLIP-seq
MIRT926017	hsa-miR-548s	CLIP-seq
MIRT926018	hsa-miR-573	CLIP-seq
MIRT926019	hsa-miR-587	CLIP-seq
MIRT926020	hsa-miR-643	CLIP-seq
MIRT926021	hsa-miR-1206	CLIP-seq
MIRT926022	hsa-miR-1298	CLIP-seq
MIRT926023	hsa-miR-375	CLIP-seq
MIRT926024	hsa-miR-433	CLIP-seq
MIRT926025	hsa-miR-664	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence
GO:0003007	Process	Heart morphogenesis	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007409	Process	Axonogenesis	IBA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030855	Process	Epithelial cell differentiation	IBA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0048729	Process	Tissue morphogenesis	IEA
GO:0060429	Process	Epithelium development	IEA
GO:0072006	Process	Nephron development	IEA
GO:0072137	Process	Condensed mesenchymal cell proliferation	IEA
GO:0098609	Process	Cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
612486	23111	ENSG00000197410

Q6V1P9

Protein name

Protocadherin-23 (Cadherin-27) (Cadherin-like protein CDHJ) (Cadherin-like protein VR8) (Protein dachsous homolog 2) (Protocadherin PCDHJ)

Protein function

Calcium-dependent cell-adhesion protein.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	64 → 154	Cadherin domain	Domain
PF00028	Cadherin	382 → 471	Cadherin domain	Domain
PF00028	Cadherin	485 → 575	Cadherin domain	Domain
PF00028	Cadherin	590 → 683	Cadherin domain	Domain
PF00028	Cadherin	848 → 939	Cadherin domain	Domain
PF00028	Cadherin	953 → 1046	Cadherin domain	Domain
PF00028	Cadherin	1060 → 1156	Cadherin domain	Domain
PF00028	Cadherin	1169 → 1260	Cadherin domain	Domain
PF00028	Cadherin	1274 → 1365	Cadherin domain	Domain
PF00028	Cadherin	1379 → 1469	Cadherin domain	Domain
PF00028	Cadherin	1483 → 1574	Cadherin domain	Domain
PF00028	Cadherin	1589 → 1676	Cadherin domain	Domain
PF00028	Cadherin	1689 → 1778	Cadherin domain	Domain
PF00028	Cadherin	1792 → 1883	Cadherin domain	Domain
PF00028	Cadherin	1896 → 1983	Cadherin domain	Domain
PF00028	Cadherin	1997 → 2085	Cadherin domain	Domain
PF00028	Cadherin	2099 → 2201	Cadherin domain	Domain
PF00028	Cadherin	2215 → 2305	Cadherin domain	Domain
PF00028	Cadherin	2319 → 2416	Cadherin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Cerebral cortex and testis. {ECO:0000269|PubMed:15003449}.

Sequence

MSPCGRKMGEGRQQRRAPVGKLLLLPGRRDTPHGRSGSSGARTQRSLLWLLVHVWLWAAS
GSSAQLFNLTLSVDEGLPPDTLVGDIRAGLPAAQQQEGSGFFLSEDSDDSPLLDDFHVHP
DTGIIRTARRLDRERRDHYSFVAATLLGAVVQVEIRVNDVNDHSPRFPLDSLQLDVSELS
PPGTAFRLPVAHDPDAGLFSTQGYTLVQPSDLPKDPAGPFFQLRYRTPGPLPSPLLPGSS
SPLEPLDLVLLRRLDREEAAAHRLQIEAWDGGRPRRTGLLSVELRVLDENDNPPVFEQDE
YRAAVREDAQPGAEVCRVRATDRDLGPNGFVRYSVRARQVPGAGSGGGALGDAAYFAVEE
LSGVVRVWRPLDREAQAWHQLVVEARDGGAEPEVATVRVSIAVLDVNDNRPAIHVLFLTE
GGVARVSEGARPGDYVARVSVSDADGDWEKEDEATGELGVGLGDGSISLSLEGGEGDFAL
LPGGPPGVFFLCVEGPLDRESRDLYELLLVATDAGSPPLSTEETLLLRVADLNDQPPLFS
QQHYKASVSEAAAPGTVVMWVSASDADEAGSDHAWLRYTVVQLSAPCNLGSLQSKMVHTA
ECGPSFAIDSESGAISTIRTLDREVQEAVELKVVAQDLGEPPLSATCLVSITVDDVNDNE
PIFWRQVYNATIAEHAPVGHCFLQVTASDADSGLYGFIEYSLYDGFLSYEAPQAFRIDPH
DGQICVSQDIDRERDPATYDLLVEAKDGGGLSAQAFVRVDLEDVNDNHPVFNPSTYVTSI
SDETQPGTEIINVLATDQDSGIYGTVAYELIPGNVSSLFTIDSTTGIIYLTLPLSHLEST
TLSLMVSAQDGGGLTAVINADVTIHIFQTTLAPAEFERPKYTFLVYEDVPEDSPIGTVKA
REPLNSSEPIFYRISSGDLGGKFSIHPRLGTIRTRKPLDHETQPVVVLTVQAQLGSAPAC
SSTEVNITVMDVNDNHPAFLRTSDEIRISQTTPPGTALYLARAEDRDSGRNGLIRYSIAS
PQPGVFAIDRALGVLFLNGSLGAGEQRELTLTLRAEDQGVHPQAALLVLTVVIEKREHSP
SWTFEHLVYQVEVSESLSPMTQMLQTQAHPLGPQRAASPLRYSLEPSVDSAMFGIRPYTG
WIYLRRQFDYESTQTYNFRVFAWIPEDGFLQNVSTTVIVRVWDENDNSPTFLHDVLFLKV
EESPVPQGVIGKITAIDMDSGKNGQLLYFLLSDGKFFKMNPNTGELINWVALDREHRGHH
EMTVLVTDRGSPPRNATMAVYVSVTDINDNRPFFPQCLPGKELHVKVLEGQPVNMLVTTV
FAKDPDEGNNAEVTYSVSSEDSSDHFKIDANNGEIRTTTILSYDYRPSYRMSVIATDQGV
PPLQGQAVVNIQVIPLSKGRAIMSQNIRHLIIPENLKPTKIMSLIKSSDHLQQHYNGKLH
FSIVADDKDGHFEIDSSTGDLFLSKELDYETTSHYLFRVITTDHSKNLSLSSTVFLSIDV
EDQNDHSPSFQDELIVISVEENVPIGTLVYVFNAKDDDGSFLNSRIQYYIESHNPGTNPF
LIHPSFGTLVTVSRLDRESIPTVILTVTASDQAVNVTDRRLRSLTAQIVILDVNDHNPTF
ISFPNAHVKEDVTVGSLVHHITAHDPDEGRNGKVTYSILSGNENMTFMLDESSGLLTTTC
PLDYEMKTQHILTVLALDDGTPALSSSQTLTVTVLDVNDEAPVFKQHLYEASVKENQNPG
EFVTRVEALDRDSGVNSKLQFEIMPGASFELFEINSDTGEVVTTTILDREIQEVFTLRVL
VRDGGFPSLSSTTTILCTVEDENDHAPEFIVSSYDIEVLENQEPEVVYTVLASDMDAGNN
RAVEYHIIDGNTDECFTINEMSGELSTTRALDREQISNFTLVILCSDLGDPPRSSVIHLQ
VRVLDANDHSPSFPTLYYQSSVREDAEVGTVVLVLSAVDKDEGLNGQTEYFLTDEASGAF
TIDPMSGTLKTSNTLDREARSQHTFSAVARDCSIQGSRSTTVIIKVYVTDVNDNDPVLEQ
NPFDVFLSPESPTNQTTVIVRADDLDLGPNGTVVFSFAETQSMFSIDKYTGEIQFQQNPS
SEYFPIWLQLKVTDQGIPARTTTGLLVIHMEGEDVKISFSHHLYKGLVTENCEAGTSIVT
VKAFAPDSIQDSMKYSIFSGNEDGVLSLCSKSGQLTVKEPKFLDFEVRNEVQLIVLAESS
GHRAYCKVAVLIQDENDNSPCFEQSIYQASVSESQLYNAHVIQVFATDLDSGLNGLIEYS
ILSGNQEEAFQIDALSGVITTKAILDYELTSSYSLIVQATDKGMPRLSNTTVIKVQVTDI
NDNAPAFLPSEAVEITEDSLPGVIVTHVSVHDVDLNSAFIFSFAKESNPGTKFAIDQNTG
VVVLVKTLDFEEMTEYELLIQISDSVHYTEGALVVRVLDVNDNPPVFSQDFYQVTVPESI
PVGYSVLTLSATDLESNENISYRILSSSKEFSIDPKNGTIFTISPVLLLDTISTTQFLVE
ASDGGNPDLRALTLVEIGIEDMNNYAPEFTVKSYNLSLSEDALVGSTLVTFSNIDHDWTR
ENTYVEYSIISGNSQNNFHVETKFFHSEYPYKQVGYLVLLHSLDREASASHELVILASDS
GCPPLSSTAVISIQVLDVNDNPPNFSSLSYHTHVKESTPLGSHITVVSANDRDTGSHAEI
IYNIISGNEKGHFYLEENTGVLYLIKPLDYEKMTKFTLTVQASDAEKKHFSFAVVFVSVL
DDNDHAPQFMFSSFSCIVPENLPISSTICSINALDFDAGPYGELTYSIVSPCFLTHGMSY
DHDLFLIDPLTGDIHAKQILDYENGNKYCLTVQAKDKGDATASLVVWVDIEGIDEFEPIF
TQDQYFFTLPEKNKDRQLIGRVEASDADAGIDGVILYSLGTSSPFFSVNKTNGNIYLIRA
LPLIKSQLNKEDTLEMKIIAHSPKSDSKFASCTVFVNVSFSSEGTPLAVFASSFSISLVV
SFLVFLILICILIVMILRHKQKDTINNYEEKKTSSLDADLRVTRDASVLKAFQKTDDCSN
EVVPVDATPEWLSLISIMEKDIVNLYRHSNSSGHCSVEGETAEDKEIQRINEHPYRKCSD
SALSDHESRVPDSGIPRDSDQLSCLSGETDVMVTAETAEASQTFGEGDQGEGCSTTCAQN
NVLPQTVQKREAKESILADVRKESVFISGDQEVRCAALSTQTTSDHDGKDNYHWNYLLSW
EPKFQPLASVFNDIAKLKDEHLHMPGIPKEKKSFVFPPPLITAVAQPGIKAVPPRMPAVN
LGQVPPKHPRSPIPYHLGSLPEGMTPNFSPSLSLLTMQPPALSPLLREGELLGTHISGTC
HELKAEDEVQI

Sequence length

3371

Interactions

View interactions

	KEGG
	Hippo signaling pathway - multiple species

150

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs61743677, rs28561984, rs116029479	RCV005937163 RCV005935507 RCV005935382
Cervical cancer	Benign	rs79295524, rs116029479	RCV005935307 RCV005935383
Cholangiocarcinoma	Benign	rs116029479	RCV005935384
Colon adenocarcinoma	Benign	rs61743677, rs28561984, rs116029479, rs76121430	RCV005937162 RCV005935504 RCV005935380 RCV005935132
DCHS2-related disorder	Uncertain significance; Likely benign; Benign	rs2530209626, rs111557030, rs79215995, rs201027235, rs199621086, rs184619033, rs189750850, rs537827508, rs112889386, rs111455548, rs17031725, rs112514539, rs115999956, rs149548848, rs115814256 View all (94 more)	RCV003418910 RCV003919194 RCV003908949 RCV003919195 RCV003919196 RCV003919197 RCV003939000 RCV003939001 RCV003907012 RCV003919587 RCV003919678 RCV003907318 RCV003921907 RCV003907337 RCV003923928 RCV003923990 RCV003924126 RCV003924127 RCV003929584 RCV003929674 RCV003929782 RCV003974306 RCV003974313 RCV003974575 RCV003974682 RCV003974689 RCV003906868 RCV003979631 RCV003979662 RCV003979693 RCV003979725 RCV003979738 RCV003979869 RCV003984641 RCV003984726 RCV003984755 RCV003903853 RCV003914178 RCV003914247 RCV003916855 RCV003916873 RCV003916881 RCV003916963 RCV003979354 RCV003964436 RCV003967343 RCV003982302 RCV003977278 RCV003977348 RCV003977374 RCV003984601 RCV003909576 RCV003909649 RCV003933986 RCV003934073 RCV003941875 RCV003961536 RCV003961629 RCV003961697 RCV003963973 RCV003917143 RCV003919419 RCV003919467 RCV003931467 RCV003931613 RCV003931625 RCV003927093 RCV003927181 RCV003929506 RCV003929538 RCV003924557 RCV003941518 RCV003914368 RCV003914457 RCV003914550 RCV003914569 RCV003914626 RCV003932328 RCV003939288 RCV003939313 RCV003937191 RCV003951403 RCV003956945 RCV003922089 RCV003922223 RCV003922242 RCV003926922 RCV003946796 RCV003956745 RCV003979036 RCV003979178 RCV003974743 RCV003974755 RCV003974766 RCV003981848 RCV003982013 RCV003982063 RCV003982184 RCV003957270 RCV003971663 RCV003976539 RCV003972240 RCV003976696 RCV003976717 RCV003976751 RCV003981281 RCV003976282 RCV003976314 RCV003976326 RCV003976381 RCV003976433
Gastric cancer	Benign	rs79295524, rs76121430	RCV005935308 RCV005935133
Hepatocellular carcinoma	Benign	rs28561984	RCV005935505
Lung cancer	Benign	rs61743677, rs17373874	RCV005937169 RCV005937267
Malignant lymphoma, large B-cell, diffuse	Benign	rs61743677	RCV005937164
Malignant tumor of esophagus	Benign	rs28561984	RCV005935506
Melanoma	Benign	rs61743677, rs28561984	RCV005937168 RCV005935512
Multiple congenital anomalies	Uncertain significance	rs2530167555	RCV003228191
Nonpapillary renal cell carcinoma	Benign	rs116029479	RCV005935381
Ovarian cancer	Benign	rs28561984	RCV005935508
Ovarian serous cystadenocarcinoma	Benign	rs79295524, rs76121430	RCV005935309 RCV005935134
Prostate cancer	Uncertain significance	rs193920995	RCV000149244
Sarcoma	Benign	rs61743677, rs28561984	RCV005937165 RCV005935509
Thymoma	Benign	rs61743677, rs28561984	RCV005937167 RCV005935511
Thyroid cancer, nonmedullary, 1	Benign	rs79295524, rs76121430	RCV005935311 RCV005935136
Uterine carcinosarcoma	Benign	rs61743677, rs28561984, rs17373874, rs79295524, rs17031394, rs76121430	RCV005937166 RCV005935510 RCV005937266 RCV005935310 RCV005935193 RCV005935203 RCV005935135
Uterine corpus endometrial carcinoma	Benign	rs79295524	RCV005935312

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Colorectal Neoplasms	Associate	24898286, 35975176
Microsatellite Instability	Associate	24898286
Neoplasms	Associate	24898286

DCHS2 (dachsous cadherin-related 2)