This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, ... See more...

Aliases for CDH17 Gene

Aliases for CDH17 Gene

  • Cadherin 17 2 3 5
  • Intestinal Peptide-Associated Transporter HPT-1 3 4
  • Cadherin 17, LI Cadherin (Liver-Intestine) 2 3
  • Liver-Intestine Cadherin 3 4
  • Cadherin-17 3 4
  • HPT-1 2 3
  • Human Intestinal Peptide-Associated Transporter HPT-1 3
  • Human Peptide Transporter 1 3
  • HPT-1 Cadherin 3
  • LI Cadherin 3
  • Cadherin-16 3
  • LI-Cadherin 4
  • Cadherin 2
  • CDH16 3
  • CDH17 5
  • HPT1 3

External Ids for CDH17 Gene

Previous GeneCards Identifiers for CDH17 Gene

  • GC08M093885
  • GC08M094985
  • GC08M094808
  • GC08M095095
  • GC08M095208
  • GC08M090347

Summaries for CDH17 Gene

Entrez Gene Summary for CDH17 Gene

  • This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

GeneCards Summary for CDH17 Gene

CDH17 (Cadherin 17) is a Protein Coding gene. Diseases associated with CDH17 include Metanephric Adenoma and Elsahy-Waters Syndrome. Among its related pathways are Presenilin-Mediated Signaling and Cell junction organization. Gene Ontology (GO) annotations related to this gene include calcium ion binding and proton-dependent oligopeptide secondary active transmembrane transporter activity. An important paralog of this gene is CDH23.

UniProtKB/Swiss-Prot Summary for CDH17 Gene

  • Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport.

Gene Wiki entry for CDH17 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CDH17 Gene

Genomics for CDH17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CDH17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J094233 Promoter/Enhancer 1.7 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 250.4 -17.4 -17358 1.5 POLR2A CTCF BATF MAZ IKZF1 NR2F1 SP1 ZFX FOS ESRRA RF00017-6615 CDH17 GEM MYL12AP1 HSALNG0067012
GH08J094205 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 255.8 +9.8 9764 4.7 CTCF JUND BHLHE40 FOXA1 ZNF384 CEBPB IKZF1 ZNF687 RAD21 MTA2 CDH17 GEM ENSG00000249510 RPL6P23 PDP1
GH08J094216 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 257.6 +0.1 102 2.4 JUND TRIM22 EBF1 PRDM10 SPI1 ELF1 HDGF ATF2 TCF12 IKZF1 CDH17 RPL6P23 PDP1
GH08J094203 Promoter 0.3 EPDnew 250.4 +14.2 14215 0.1 ENSG00000249510 RPL6P23 lnc-GEM-1 CDH17 PDP1
GH08J094239 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17.2 -24.9 -24897 6.8 SP1 ZNF600 JUND ZIC2 BCL11A ZNF639 ZEB1 NR2C1 MAX ZNF217 HSALNG0067012 GEM CDH17 HSALNG0067014
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDH17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CDH17

Top Transcription factor binding sites by QIAGEN in the CDH17 gene promoter:
  • Nkx2-5

Genomic Locations for CDH17 Gene

Latest Assembly
chr8:94,127,162-94,217,303
(GRCh38/hg38)
Size:
90,142 bases
Orientation:
Minus strand

Previous Assembly
chr8:95,139,390-95,229,506
(GRCh37/hg19 by Entrez Gene)
Size:
90,117 bases
Orientation:
Minus strand

chr8:95,139,399-95,229,531
(GRCh37/hg19 by Ensembl)
Size:
90,133 bases
Orientation:
Minus strand

Genomic View for CDH17 Gene

Genes around CDH17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH17 Gene

Proteins for CDH17 Gene

  • Protein details for CDH17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12864-CAD17_HUMAN
    Recommended name:
    Cadherin-17
    Protein Accession:
    Q12864
    Secondary Accessions:
    • Q15336
    • Q2M2E0

    Protein attributes for CDH17 Gene

    Size:
    832 amino acids
    Molecular mass:
    92219 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CDH17 Gene

Post-translational modifications for CDH17 Gene

  • Glycosylation at Asn149, Asn184, Asn250, Asn419, Asn456, Asn546, Asn587, and Asn722
  • Modification sites at PhosphoSitePlus

Other Protein References for CDH17 Gene

Protein products for research

Assay products for research

  • Boster Bio ELISA Kits for CDH17

No data available for DME Specific Peptides for CDH17 Gene

Domains & Families for CDH17 Gene

Gene Families for CDH17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CDH17 Gene

Suggested Antigen Peptide Sequences for CDH17 Gene

GenScript: Design optimal peptide antigens:
  • Liver-intestine cadherin (CAD17_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12864

UniProtKB/Swiss-Prot:

CAD17_HUMAN :
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
Domain:
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
genes like me logo Genes that share domains with CDH17: view

Function for CDH17 Gene

Molecular function for CDH17 Gene

UniProtKB/Swiss-Prot Function:
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport.
GENATLAS Biochemistry:
cadherin 17,LI-cadherin,transmembrane glycoprotein component of adherens junction,expressed in the liver and intestine located in a region deleted (LOH) in adult acute leukemia

Phenotypes From GWAS Catalog for CDH17 Gene

Gene Ontology (GO) - Molecular Function for CDH17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IPI 25336636
GO:0005215 transporter activity TAS 8153632
GO:0005427 proton-dependent oligopeptide secondary active transmembrane transporter activity ISS --
GO:0005509 calcium ion binding IEA,IBA 21873635
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with CDH17: view
genes like me logo Genes that share phenotypes with CDH17: view

Animal Models for CDH17 Gene

MGI Knock Outs for CDH17:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH17

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CDH17 Gene

Localization for CDH17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH17 Gene

Cell membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDH17 gene
Compartment Confidence
plasma membrane 5
nucleus 5
extracellular 3
cytoskeleton 3
endoplasmic reticulum 3
cytosol 3
mitochondrion 2
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDH17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IEA,TAS --
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CDH17: view

Pathways & Interactions for CDH17 Gene

genes like me logo Genes that share pathways with CDH17: view

Pathways by source for CDH17 Gene

1 Sino Biological pathway for CDH17 Gene
1 KEGG pathway for CDH17 Gene
7 Qiagen pathways for CDH17 Gene
  • G12-G13 in Cellular Signaling
  • GSK3 Signaling
  • ILK Signaling
  • Presenilin-Mediated Signaling
  • Rho Family GTPases
1 Cell Signaling Technology pathway for CDH17 Gene

SIGNOR curated interactions for CDH17 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CDH17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002314 germinal center B cell differentiation IEA --
GO:0002315 marginal zone B cell differentiation IEA --
GO:0006857 oligopeptide transport ISS --
GO:0007155 cell adhesion IEA,TAS 8153632
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA,ISS --
genes like me logo Genes that share ontologies with CDH17: view

Drugs & Compounds for CDH17 Gene

(2) Drugs for CDH17 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with CDH17: view

Transcripts for CDH17 Gene

mRNA/cDNA for CDH17 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDH17

Alternative Splicing Database (ASD) splice patterns (SP) for CDH17 Gene

No ASD Table

Relevant External Links for CDH17 Gene

GeneLoc Exon Structure for
CDH17

Expression for CDH17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDH17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDH17 Gene

This gene is overexpressed in Colon - Transverse (x35.4) and Small Intestine - Terminal Ileum (x15.1).

Protein differential expression in normal tissues from HIPED for CDH17 Gene

This gene is overexpressed in Rectum (22.5), Pancreatic juice (17.0), Colon (14.5), and Fetal gut (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CDH17 Gene



Protein tissue co-expression partners for CDH17 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CDH17

SOURCE GeneReport for Unigene cluster for CDH17 Gene:

Hs.591853

mRNA Expression by UniProt/SwissProt for CDH17 Gene:

Q12864-CAD17_HUMAN
Tissue specificity: Expressed in the gastrointestinal tract and pancreatic duct. Not detected in kidney, lung, liver, brain, adrenal gland and skin.

Evidence on tissue expression from TISSUES for CDH17 Gene

  • Intestine(4.6)
  • Nervous system(4.6)
  • Pancreas(2.7)
  • Heart(2.7)
  • Skin(2.7)
  • Stomach(2.5)
  • Kidney(2.5)
  • Muscle(2.5)
  • Blood(2.5)
  • Lymph node(2.4)
  • Eye(2.3)
  • Lung(2.2)
  • Liver(2.2)
  • Bone(2)
genes like me logo Genes that share expression patterns with CDH17: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CDH17 Gene

Orthologs for CDH17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CDH17 29 30
  • 99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CDH17 29 30
  • 82.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CDH17 29 30
  • 82.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cdh17 29 16 30
  • 81.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cdh17 29
  • 81.14 (n)
Oppossum
(Monodelphis domestica)
Mammalia CDH17 30
  • 65 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CDH17 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CDH17 29 30
  • 58.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CDH17 30
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cdh17 29
  • 55.53 (n)
Zebrafish
(Danio rerio)
Actinopterygii cdh17 29 30
  • 49.75 (n)
OneToOne
-- 29
Species where no ortholog for CDH17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CDH17 Gene

ENSEMBL:
Gene Tree for CDH17 (if available)
TreeFam:
Gene Tree for CDH17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDH17: view image
Alliance of Genome Resources:
Additional Orthologs for CDH17

Paralogs for CDH17 Gene

(9) SIMAP similar genes for CDH17 Gene using alignment to 4 proteins:

  • CAD17_HUMAN
  • E5RJT3_HUMAN
  • E7EN24_HUMAN
  • H0YBL0_HUMAN
genes like me logo Genes that share paralogs with CDH17: view

Variants for CDH17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CDH17 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs111589116 Likely Benign: not provided 94,170,963(-) G/A
NM_004063.4(CDH17):c.806C>T (p.Ala269Val)
MISSENSE
rs1237135515 Likely Benign: not provided 94,130,955(-) A/G
NM_004063.4(CDH17):c.2205T>C (p.Phe735=)
SYNONYMOUS
rs144007824 Benign: not provided 94,176,590(-) C/T
NM_004063.4(CDH17):c.375G>A (p.Thr125=)
SYNONYMOUS
rs145864525 Benign: not provided 94,145,974(-) G/A
NM_004063.4(CDH17):c.2121C>T (p.Leu707=)
SYNONYMOUS
rs146691258 Benign: not provided 94,130,660(-) T/C
NM_004063.4(CDH17):c.2364A>G (p.Ala788=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CDH17 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CDH17 Gene

Variant ID Type Subtype PubMed ID
dgv465n21 CNV gain 19592680
esv2660000 CNV deletion 23128226
esv3418079 CNV insertion 20981092
esv3618067 CNV gain 21293372
esv3618069 CNV loss 21293372
esv3618070 CNV loss 21293372
esv3618071 CNV loss 21293372
nsv1020665 CNV gain 25217958
nsv1022473 CNV loss 25217958
nsv396169 CNV deletion 16902084
nsv6311 CNV insertion 18451855
nsv831401 CNV loss 17160897

Variation tolerance for CDH17 Gene

Residual Variation Intolerance Score: 23.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.51; 43.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDH17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDH17
Leiden Open Variation Database (LOVD)
CDH17

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH17 Gene

Disorders for CDH17 Gene

MalaCards: The human disease database

(33) MalaCards diseases for CDH17 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
metanephric adenoma
elsahy-waters syndrome
  • esws
cleft lip/palate-ectodermal dysplasia syndrome
  • clped1
gastric cancer
  • gastric cancer, somatic
gastric adenocarcinoma
  • adenocarcinoma of stomach
- elite association - COSMIC cancer census association via MalaCards
Search CDH17 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CDH17

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CDH17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDH17 Gene

Publications for CDH17 Gene

  1. Loss of liver-intestine cadherin in human intrahepatic cholangiocarcinoma promotes angiogenesis by up-regulating metal-responsive transcription factor-1 and placental growth factor. (PMID: 19956853) Takamura M … Aoyagi Y (International journal of oncology 2010) 3 22
  2. Targeting cadherin-17 inactivates Wnt signaling and inhibits tumor growth in liver carcinoma. (PMID: 19676131) Liu LX … Luk JM (Hepatology (Baltimore, Md.) 2009) 3 22
  3. A genomewide association study points to multiple loci that predict antidepressant drug treatment outcome in depression. (PMID: 19736353) Ising M … Müller-Myhsok B (Archives of general psychiatry 2009) 3 40
  4. Cadherin-17 is a useful diagnostic marker for adenocarcinomas of the digestive system. (PMID: 18552820) Su MC … Jeng YM (Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2008) 3 22
  5. A clinicopathological study on the expression of cadherin-17 and caudal-related homeobox transcription factor (CDX2) in human gastric carcinoma. (PMID: 18353622) Ge J … Chen Z (Clinical oncology (Royal College of Radiologists (Great Britain)) 2008) 3 22

Products for CDH17 Gene

Sources for CDH17 Gene