CDHR5 (cadherin related family member 5)

Gene

• Entrez ID: 53841
• Gene name: Cadherin related family member 5
• Gene symbol: CDHR5
• Synonyms (NCBI Gene): MLPCDH, MU-PCDH, MUCDHL, MUPCDH
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: 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 motif

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019081	hsa-miR-335-5p	Microarray	18185580
MIRT880105	hsa-miR-1204	CLIP-seq
MIRT880106	hsa-miR-1275	CLIP-seq
MIRT880107	hsa-miR-2277-3p	CLIP-seq
MIRT880108	hsa-miR-3144-5p	CLIP-seq
MIRT880109	hsa-miR-3170	CLIP-seq
MIRT880110	hsa-miR-3189-3p	CLIP-seq
MIRT880111	hsa-miR-3191	CLIP-seq
MIRT880112	hsa-miR-342-5p	CLIP-seq
MIRT880113	hsa-miR-3978	CLIP-seq
MIRT880114	hsa-miR-4651	CLIP-seq
MIRT880115	hsa-miR-4652-5p	CLIP-seq
MIRT880116	hsa-miR-4664-5p	CLIP-seq
MIRT880117	hsa-miR-4665-5p	CLIP-seq
MIRT880118	hsa-miR-491-5p	CLIP-seq
MIRT880119	hsa-miR-608	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	24725409
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24725409
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IDA	32209652
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	ISS
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0008013	Function	Beta-catenin binding	IPI	22202456
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	24725409
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031526	Component	Brush border membrane	IDA	24725409
GO:0031528	Component	Microvillus membrane	IDA	24725409
GO:0031528	Component	Microvillus membrane	IEA
GO:0032532	Process	Regulation of microvillus length	IMP	24725409
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IBA
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0050839	Function	Cell adhesion molecule binding	IDA	24725409
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0090675	Process	Intermicrovillar adhesion	IMP	24725409
GO:0098609	Process	Cell-cell adhesion	IBA
GO:1904970	Process	Brush border assembly	IDA	32209652

Other IDs

• MIM: 606839
• HGNC: 7521
• e!Ensembl: ENSG00000099834

Protein

• UniProt ID: Q9HBB8
• Protein name: Cadherin-related family member 5 (Mu-protocadherin) (Mucin and cadherin-like protein) (Mucin-like protocadherin) (MLPCDH)
• Protein 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. Thro
• PDB: 6OAE
• Tissue specificity: 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 intest
• Sequence:

  MGSWALLWPPLLFTGLLVRPPGTMAQAQYCSVNKDIFEVEENTNVTEPLVDIHVPEGQEV
  TLGALSTPFAFRIQGNQLFLNVTPDYEEKSLLEAQLLCQSGGTLVTQLRVFVSVLDVNDN
  APEFPFKTKEIRVEEDTKVNSTVIPETQLQAEDRDKDDILFYTLQEMTAGASDYFSLVSV
  NRPALRLDRPLDFYERPNMTFWLLVRDTPGENVEPSHTATATLVLNVVPADLRPPWFLPC
  TFSDGYVCIQAQYHGAVPTGHILPSPLVLRPGPIYAEDGDRGINQPIIYSIFRGNVNGTF
  IIHPDSGNLTVARSVPSPMTFLLLVKGQQADLARYSVTQVTVEAVAAAGSPPRFPQRLYR
  GTVARGAGAGVVVKDAAAPSQPLRIQAQDPEFSDLNSAITYRITNHSHFRMEGEVVLTTT
  TLAQAGAFYAEVEAHNTVTSGTATTVIEIQVSEQEPPSTDVPPSPEAGGTTGPWTSTTSE
  VPRPPEPSQGPSTTSSGGGTGPHPPSGTTLRPPTSSTPGGPPGAENSTSHQPATPGGDTA
  QTPKPGTSQPMPPGVGTSTSHQPATPSGGTAQTPEPGTSQPMPPSMGTSTSHQPATPGGG
  TAQTPEAGTSQPMPPGMGTSTSHQPTTPGGGTAQTPEPGTSQPMPLSKSTPSSGGGPSED
  KRFSVVDMAALGGVLGALLLLALLGLAVLVHKHYGPRLKCCCGKAPEPQPQGFDNQAFLP
  DHKANWAPVPSPTHDPKPAEAPMPAEPAPPGPASPGGAPEPPAAARAGGSPTAVRSILTK
  ERRPEGGYKAVWFGEDIGTEADVVVLNAPTLDVDGASDSGSGDEGEGAGRGGGPYDAPGG
  DDSYI

• Sequence length: 845

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	32046242	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	32651463	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33025744	Associate	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	21839066		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29088846		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21315419, 27310872, 30296522		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27310872, 34929577	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	30296522	Inhibit	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29088846		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	21839066		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	30296522		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31482521		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26502338, 28714469		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29088846		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29088846		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	26463459	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	26463459		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29088846		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASCAT_DG	31672989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations