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Aliases for CDHR5 Gene

Aliases for CDHR5 Gene

  • Cadherin Related Family Member 5 2 3 5
  • Cadherin-Related Family Member 5 2 3
  • Mucin And Cadherin-Like Protein 3 4
  • Mucin-Like Protocadherin 2 4
  • Mu-Protocadherin 3 4
  • MUCDHL 3 4
  • MUPCDH 3 4
  • MLPCDH 3 4
  • Differentiation-Associated Catenin Regulator 3
  • Mucin And Cadherin-Like 2
  • MU-PCDH 3

External Ids for CDHR5 Gene

Previous HGNC Symbols for CDHR5 Gene

  • MUCDHL
  • MUPCDH

Previous GeneCards Identifiers for CDHR5 Gene

  • GC11M000435

Summaries for CDHR5 Gene

Entrez Gene Summary for CDHR5 Gene

  • This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]

GeneCards Summary for CDHR5 Gene

CDHR5 (Cadherin Related Family Member 5) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and beta-catenin binding.

UniProtKB/Swiss-Prot for CDHR5 Gene

  • Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR2 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.

Gene Wiki entry for CDHR5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDHR5 Gene

Genomics for CDHR5 Gene

Regulatory Elements for CDHR5 Gene

Enhancers for CDHR5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F000654 1.2 FANTOM5 ENCODE 16.9 -29.2 -29242 0.9 MLX ARID4B SIN3A RAD21 THRB ZNF48 RARA MIXL1 THAP11 KLF11 TMEM80 CDHR5 EPS8L2 DEAF1 IRF7 TALDO1 ENSG00000255142 LOC171391 PDDC1 CEND1
GH11F000662 0.7 ENCODE 12.1 -36.8 -36808 0.2 CTCF SAP130 ARID4B IRF3 RAD21 ZNF143 SMC3 NR2F6 CREM ZNF654 EPS8L2 TMEM80 DEAF1 CDHR5 IRF7 LOC171391 PDDC1 ENSG00000255142 CEND1 SLC25A22
GH11F000657 0.7 ENCODE 11.9 -31.8 -31842 1.3 SAP130 ARID4B CEBPG THRB RAD21 RARA YY1 HNF4G NR2F6 GATAD2A TMEM80 EPS8L2 DEAF1 CDHR5 IRF7 TALDO1 CEND1 SLC25A22 PIDD1 RPLP2
GH11F000636 1 Ensembl ENCODE 7.3 -13.0 -13042 5.5 CTCF KLF1 ZNF837 TEAD4 ZIC2 HIC1 GLIS2 POLR2A ZNF600 KLF8 TMEM80 PTDSS2 CDHR5 HRAS LMNTD2 OR4F2P ENSG00000254815 DRD4 GC11P000641
GH11F000623 1 Ensembl ENCODE 0.8 +0.5 529 4.6 TFAP4 KLF1 SAP130 RAD21 ZNF48 RARA POLR2A ZNF547 SCRT2 ZNF600 TMEM80 EPS8L2 ENSG00000254815 CDHR5 GC11M000619
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CDHR5 on UCSC Golden Path with GeneCards custom track

Genomic Location for CDHR5 Gene

Chromosome:
11
Start:
616,565 bp from pter
End:
626,078 bp from pter
Size:
9,514 bases
Orientation:
Minus strand

Genomic View for CDHR5 Gene

Genes around CDHR5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDHR5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDHR5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDHR5 Gene

Proteins for CDHR5 Gene

  • Protein details for CDHR5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBB8-CDHR5_HUMAN
    Recommended name:
    Cadherin-related family member 5
    Protein Accession:
    Q9HBB8
    Secondary Accessions:
    • C9J7X1
    • Q9H746
    • Q9HAU3
    • Q9HBB5
    • Q9HBB6
    • Q9HBB7
    • Q9NX86
    • Q9NXI9

    Protein attributes for CDHR5 Gene

    Size:
    845 amino acids
    Molecular mass:
    88223 Da
    Quaternary structure:
    • Part of the IMAC/intermicrovillar adhesion complex/intermicrovillar tip-link complex composed of ANKS4B, MYO7B, USH1C, CDHR2 and CDHR5 (PubMed:26812018). Interacts (via cytoplasmic domain) with USH1C and MYO7B; required for proper localization of CDHR5 to microvilli tips and its function in brush border differentiation (PubMed:24725409).
    SequenceCaution:
    • Sequence=AAG16730.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAG16732.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAA91021.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91021.1; Type=Frameshift; Positions=763; Evidence={ECO:0000305}; Sequence=BAA91021.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BAB15052.1; Type=Frameshift; Positions=458; Evidence={ECO:0000305};

    Alternative splice isoforms for CDHR5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDHR5 Gene

Post-translational modifications for CDHR5 Gene

  • N- and O-glycosylated.
  • Glycosylation at Asn 44, Asn 81, Asn 140, Asn 198, Asn 297, Asn 308, Asn 405, and Asn 526
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CDHR5 Gene

Domains & Families for CDHR5 Gene

Gene Families for CDHR5 Gene

Protein Domains for CDHR5 Gene

Suggested Antigen Peptide Sequences for CDHR5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HBB8

UniProtKB/Swiss-Prot:

CDHR5_HUMAN :
  • Contains 4 cadherin domains.
Domain:
  • Contains 4 cadherin domains.
genes like me logo Genes that share domains with CDHR5: view

Function for CDHR5 Gene

Molecular function for CDHR5 Gene

UniProtKB/Swiss-Prot Function:
Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR2 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.

Gene Ontology (GO) - Molecular Function for CDHR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding ISS --
GO:0005515 protein binding IPI 24725409
GO:0008013 beta-catenin binding IPI 22202456
GO:0050839 cell adhesion molecule binding IDA 24725409
genes like me logo Genes that share ontologies with CDHR5: view

Phenotypes for CDHR5 Gene

genes like me logo Genes that share phenotypes with CDHR5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CDHR5

miRNA for CDHR5 Gene

miRTarBase miRNAs that target CDHR5

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CDHR5 Gene

Localization for CDHR5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDHR5 Gene

Apical cell membrane; Single-pass type I membrane protein. Cell projection, microvillus 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 CDHR5 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CDHR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005905 clathrin-coated pit IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA,IDA 24725409
genes like me logo Genes that share ontologies with CDHR5: view

Pathways & Interactions for CDHR5 Gene

SuperPathways for CDHR5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CDHR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion ISS --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0030154 cell differentiation IEA --
GO:0032532 regulation of microvillus length IMP 24725409
GO:0090675 intermicrovillar adhesion IMP 24725409
genes like me logo Genes that share ontologies with CDHR5: view

No data available for Pathways by source and SIGNOR curated interactions for CDHR5 Gene

Drugs & Compounds for CDHR5 Gene

(1) Drugs for CDHR5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with CDHR5: view

Transcripts for CDHR5 Gene

Unigene Clusters for CDHR5 Gene

Cadherin-related family member 5:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDHR5 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
SP1: - -
SP2: -
SP3: - - -
SP4: - -
SP5: - -
SP6: - - -
SP7: - -
SP8: - - - -

ExUns: 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for CDHR5 Gene

GeneLoc Exon Structure for
CDHR5
ECgene alternative splicing isoforms for
CDHR5

Expression for CDHR5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CDHR5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDHR5 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x20.8), Colon - Transverse (x15.0), Liver (x11.2), and Kidney - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for CDHR5 Gene

This gene is overexpressed in Pancreatic juice (42.6) and Serum (16.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CDHR5 Gene



Protein tissue co-expression partners for CDHR5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CDHR5 Gene:

CDHR5

SOURCE GeneReport for Unigene cluster for CDHR5 Gene:

Hs.165619

mRNA Expression by UniProt/SwissProt for CDHR5 Gene:

Q9HBB8-CDHR5_HUMAN
Tissue specificity: Highest expression in kidney, liver, colon and small intestine. In kidney, expressed apically along brush border of proximal convoluted tubule but not in cortical collecting ducts. Isoform 1 is expressed primarily in adult small intestine and colon. Isoform 2 is highly expressed in fetal liver (PubMed:12167596). Expressed in duodenum with higher expression in enterocytes along the villus axis and lower expression in crypts (at protein level) (PubMed:24725409).
genes like me logo Genes that share expression patterns with CDHR5: view

Primer Products

Orthologs for CDHR5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDHR5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDHR5 34
  • 95.54 (n)
mouse
(Mus musculus)
Mammalia Cdhr5 34 16 35
  • 71.88 (n)
cow
(Bos Taurus)
Mammalia CDHR5 34
  • 71.79 (n)
MUPCDH 35
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdhr5 34
  • 71.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CDHR5 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDHR5 35
  • 28 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDHR5 35
  • 29 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdhr5 34
  • 44.88 (n)
zebrafish
(Danio rerio)
Actinopterygii cdhr5b 35
  • 27 (a)
OneToMany
BX323820.1 35
  • 22 (a)
OneToMany
CDHR5 (3 of 3) 35
  • 22 (a)
OneToMany
Species where no ortholog for CDHR5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • dog (Canis familiaris)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (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 CDHR5 Gene

ENSEMBL:
Gene Tree for CDHR5 (if available)
TreeFam:
Gene Tree for CDHR5 (if available)

Paralogs for CDHR5 Gene

(1) SIMAP similar genes for CDHR5 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CDHR5: view

No data available for Paralogs for CDHR5 Gene

Variants for CDHR5 Gene

Sequence variations from dbSNP and Humsavar for CDHR5 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs111246420 -- 617,854(+) GACAC(C/T)CCTCC intron-variant, upstream-variant-2KB
rs111307862 -- 617,833(+) GCACA(A/C)CCTCA intron-variant, upstream-variant-2KB
rs111335179 -- 624,336(+) CAGGC(A/C/G)CTGGC intron-variant
rs111358941 -- 619,721(+) GCTGA(A/G)AAGGG reference, missense
rs111653843 -- 620,474(+) GCAGG(C/G)TTGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CDHR5 Gene

Variant ID Type Subtype PubMed ID
nsv951270 CNV deletion 24416366
nsv552865 CNV loss 21841781
nsv552862 CNV loss 21841781
nsv552861 CNV loss 21841781
nsv552856 CNV gain 21841781
nsv552854 CNV loss 21841781
nsv528415 CNV loss 19592680
nsv527327 CNV loss 19592680
nsv469923 CNV loss 18288195
nsv467635 CNV loss 19166990
nsv467634 CNV loss 19166990
nsv1159791 CNV deletion 26073780
nsv1053964 CNV gain 25217958
nsv1039558 CNV gain 25217958
esv2762889 CNV loss 21179565
esv2759794 CNV loss 17122850
esv2668299 CNV deletion 23128226
dgv182e199 CNV deletion 23128226
dgv1524n54 CNV loss 21841781
dgv1523n54 CNV gain 21841781
dgv1522n54 CNV loss 21841781

Variation tolerance for CDHR5 Gene

Residual Variation Intolerance Score: 95.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.98; 84.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDHR5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDHR5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDHR5 Gene

Disorders for CDHR5 Gene

Relevant External Links for CDHR5

Genetic Association Database (GAD)
CDHR5
Human Genome Epidemiology (HuGE) Navigator
CDHR5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDHR5

No disorders were found for CDHR5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CDHR5 Gene

Publications for CDHR5 Gene

  1. Characterization of a 500-kb contig spanning the region between c-Ha- Ras and MUC2 on chromosome 11p15.5. (PMID: 11031102) Paris M.J. … Williams B.R.G. (Genomics 2000) 2 3 4 22 64
  2. Identification and expression analysis of the human mu-protocadherin gene in fetal and adult kidneys. (PMID: 12167596) Goldberg M. … Warburton D. (Am. J. Physiol. 2002) 3 4 22 64
  3. mu-Protocadherin, a novel developmentally regulated protocadherin with mucin-like domains. (PMID: 10801787) Goldberg M. … Al-Awqati Q. (J. Biol. Chem. 2000) 2 3 22 64
  4. Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion. (PMID: 24725409) Crawley S.W. … Tyska M.J. (Cell 2014) 3 4 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for CDHR5 Gene

Sources for CDHR5 Gene

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