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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. Gene Ontology (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

Additional gene information for CDHR5 Gene

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

Genomics for CDHR5 Gene

GeneHancer (GH) Regulatory Elements for CDHR5 Gene

Promoters and enhancers for CDHR5 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
GH11J000623 Promoter/Enhancer 1.2 EPDnew ENCODE 650.7 +1.0 962 3.7 KLF1 SAP130 RAD21 RARA POLR2A SCRT2 ATF7 ZNF600 NR2F6 ZNF10 CDHR5 TMEM80 EPS8L2 ENSG00000254815 GC11M000619 SCT
GH11J000627 Promoter 0.5 EPDnew 650.7 -1.1 -1123 0.1 CDHR5 SCT
GH11J000654 Enhancer 1.1 FANTOM5 ENCODE 16.9 -29.2 -29241 0.9 FOXA2 MLX ARID4B SIN3A RAD21 RARA ZNF614 EGR1 THAP11 MIXL1 GC11P000654 TMEM80 CDHR5 EPS8L2 DEAF1 IRF7 TALDO1 ENSG00000255142 GATD1 LOC171391
GH11J000636 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 7.3 -13.0 -13041 5.5 KLF1 ZBTB6 ZIC2 HIC1 ZFP69B GLIS2 POLR2A GLIS1 ZNF341 RBM22 GC11P000637 GC11P000643 GC11P000641 DRD4 TMEM80 PTDSS2 CDHR5 HRAS LMNTD2 OR4F2P
GH11J000662 Enhancer 0.7 ENCODE 12.1 -36.8 -36808 0.2 CTCF SAP130 RB1 ARID4B MAX EBF1 RAD21 ARID2 SMC3 ZNF143 GC11P000663 TMEM80 EPS8L2 CDHR5 DEAF1 IRF7 LOC171391 GATD1 ENSG00000255142 CEND1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDHR5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CDHR5 Gene

Genomic Locations for CDHR5 Gene
chr11:616,565-626,078
(GRCh38/hg38)
Size:
9,514 bases
Orientation:
Minus strand
chr11:616,565-626,078
(GRCh37/hg19)
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 posLast=526526, posLast=405405, Asn308, posLast=297297, posLast=198198, posLast=140140, Asn81, and Asn44
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CDHR5 Gene

Domains & Families for CDHR5 Gene

Gene Families for CDHR5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for CDHR5 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CDHR5 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for CDHR5 Gene

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.

Phenotypes From GWAS Catalog for CDHR5 Gene

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
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

Clone 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 IDA,IEA 24725409
genes like me logo Genes that share ontologies with CDHR5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CDHR5 Gene

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 Approved 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:

Clone 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 CGAP 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 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).

Evidence on tissue expression from TISSUES for CDHR5 Gene

  • Liver(4.4)
  • Bone marrow(4)
  • Intestine(3.2)
  • Gall bladder(2.8)
  • Kidney(2.8)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with CDHR5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CDHR5 Gene

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 33
  • 95.54 (n)
mouse
(Mus musculus)
Mammalia Cdhr5 16 34 33
  • 71.88 (n)
cow
(Bos Taurus)
Mammalia CDHR5 33
  • 71.79 (n)
MUPCDH 34
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdhr5 33
  • 71.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CDHR5 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDHR5 34
  • 28 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDHR5 34
  • 29 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdhr5 33
  • 44.88 (n)
zebrafish
(Danio rerio)
Actinopterygii cdhr5b 34
  • 27 (a)
OneToMany
BX323820.1 34
  • 22 (a)
OneToMany
CDHR5 (3 of 3) 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CDHR5: view image

Paralogs for CDHR5 Gene

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

  • CDHR5_HUMAN
  • E9PKR2_HUMAN
  • E9PLX6_HUMAN
  • E9PMY2_HUMAN
  • E9PPW2_HUMAN
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 Variation AA Info Type
rs1000029513 -- 624,305(-) A/G intron_variant
rs1000085475 -- 619,677(-) C/T intron_variant
rs1000228694 -- 619,696(-) C/T coding_sequence_variant, synonymous_variant
rs1000283316 -- 623,245(-) G/T intron_variant
rs1000399627 -- 623,426(-) C/T intron_variant

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

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

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)

Additional Variant Information for CDHR5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CDHR5 Gene

Additional Disease Information for CDHR5

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

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 MJ … Williams BR (Genomics 2000) 2 3 4 22 58
  2. Identification and expression analysis of the human mu-protocadherin gene in fetal and adult kidneys. (PMID: 12167596) Goldberg M … Warburton D (American journal of physiology. Renal physiology 2002) 3 4 22 58
  3. mu-Protocadherin, a novel developmentally regulated protocadherin with mucin-like domains. (PMID: 10801787) Goldberg M … Al-Awqati Q (The Journal of biological chemistry 2000) 2 3 22 58
  4. Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion. (PMID: 24725409) Crawley SW … Tyska MJ (Cell 2014) 3 4 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for CDHR5 Gene

Sources for CDHR5 Gene

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