CDHR5 cadherin related family member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDHR5provided by HGNC
Official Full Name: cadherin related family member 5provided by HGNC
Primary source: HGNC:HGNC:7521
See related: Ensembl:ENSG00000099834 MIM:606839; AllianceGenome:HGNC:7521
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MLPCDH; MUCDHL; MUPCDH; MU-PCDH
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 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]
Expression: Biased expression in small intestine (RPKM 219.8), duodenum (RPKM 209.0) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (616583..624955, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (665199..673567, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (616583..624955, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterophilic and homophilic cadherin interactions in intestinal intermicrovillar links are species dependent.
Title: Heterophilic and homophilic cadherin interactions in intestinal intermicrovillar links are species dependent.
The atypical cadherin MUCDHL antagonizes colon cancer formation and inhibits oncogenic signaling through multiple mechanisms.
Title: The atypical cadherin MUCDHL antagonizes colon cancer formation and inhibits oncogenic signaling through multiple mechanisms.
Up-regulation of CDHR5 expression promotes malignant phenotype of pancreatic ductal adenocarcinoma.
Title: Up-regulation of CDHR5 expression promotes malignant phenotype of pancreatic ductal adenocarcinoma.
Expression of MUCDHL is negatively regulated by the activation of the beta-catenin signaling pathway in normal and cancer colorectal enterocytes.
Title: Expression of μ-protocadherin is negatively regulated by the activation of the β-catenin signaling pathway in normal and cancer colorectal enterocytes.
It suggests that methylation status of MUPCDH promoter can be used as a novel epigenetic biomarker and a therapeutic target in ADPKD.
Title: Epigenetic silencing of the MUPCDH gene as a possible prognostic biomarker for cyst growth in ADPKD.
Study found that brush border assembly is driven by the formation of Ca(2+)-dependent adhesion links between adjacent microvilli. Intermicrovillar links are composed of protocadherin-24 and mucin-like protocadherin, which target to microvillar tips and interact to form a trans-heterophilic complex.
Title: Intestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion.
The transcription factor Cdx2 activates expression of the protocadherin Mucdhl, which interacts with beta-catenin and regulates activities of colon cancer cells.
Title: Cdx2 controls expression of the protocadherin Mucdhl, an inhibitor of growth and β-catenin activity in colon cancer cells.
The MUPCDH genetic polymorphism rs3758650 was considered a genetic marker to predict symptomatic Gallstone disease subjects.
Title: Polymorphism at the mucin-like protocadherin gene influences susceptibility to gallstone disease.
Our data consequently suggest that down-regulation of mu-protocadherin expression is a common event in colorectal carcinogenesis and might therefore play an important role in this pathologic process.
Title: Down-regulation of μ-protocadherin expression is a common event in colorectal carcinogenesis.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables cell adhesion molecule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in brush border assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in intermicrovillar adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of microvillus length	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in microvillus	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cadherin-related family member 5

Names: differentiation-associated catenin regulator; mu-protocadherin; mucin and cadherin-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001171968.3 → NP_001165439.2 cadherin-related family member 5 isoform 4 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.

Source sequence(s)

AP006284

Consensus CDS

CCDS91397.1

UniProtKB/TrEMBL

A0A0G2JMW3

Related

ENSP00000351118.4, ENST00000358353.8

Conserved Domains (2) summary

cd11304
Location:274 → 343

Cadherin_repeat; Cadherin tandem repeat domain

PHA03247
Location:454 → 645

PHA03247; large tegument protein UL36; Provisional
NM_021924.5 → NP_068743.3 cadherin-related family member 5 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as MUCDHLFL).

Source sequence(s)

AA975851, AF301909, AK300991, AP006284, AY358368, DA373160

Consensus CDS

CCDS7707.1

UniProtKB/Swiss-Prot

C9J7X1, Q9H746, Q9HAU3, Q9HBB5, Q9HBB6, Q9HBB7, Q9HBB8, Q9NX86, Q9NXI9

UniProtKB/TrEMBL

A0A0G2JMW3

Related

ENSP00000380676.2, ENST00000397542.7

Conserved Domains (2) summary

cd11304
Location:274 → 343

Cadherin_repeat; Cadherin tandem repeat domain

PHA03247
Location:452 → 651

PHA03247; large tegument protein UL36; Provisional
NM_031264.5 → NP_112554.3 cadherin-related family member 5 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.

Source sequence(s)

AP006284

Consensus CDS

CCDS7708.1

UniProtKB/TrEMBL

Q58EZ6

Related

ENSP00000345726.7, ENST00000349570.11

Conserved Domains (1) summary

cd11304
Location:274 → 343

Cadherin_repeat; Cadherin tandem repeat domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

616583..624955 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011520190.3 → XP_011518492.1 cadherin-related family member 5 isoform X5

Conserved Domains (1) summary

cd11304
Location:274 → 343

Cadherin_repeat; Cadherin tandem repeat domain
XM_011520189.3 → XP_011518491.1 cadherin-related family member 5 isoform X3

UniProtKB/TrEMBL

Q58EZ6

Conserved Domains (1) summary

cd11304
Location:274 → 343

Cadherin_repeat; Cadherin tandem repeat domain
XM_011520188.3 → XP_011518490.1 cadherin-related family member 5 isoform X2

UniProtKB/TrEMBL

Q58EZ6

Conserved Domains (2) summary

cd11304
Location:274 → 343

Cadherin_repeat; Cadherin tandem repeat domain

pfam07001
Location:452 → 550

BAT2_N; BAT2 N-terminus
XM_006718253.4 → XP_006718316.1 cadherin-related family member 5 isoform X1

UniProtKB/TrEMBL

A0A0G2JMW3

Conserved Domains (2) summary

cd11304
Location:274 → 343

Cadherin_repeat; Cadherin tandem repeat domain

pfam07001
Location:452 → 534

BAT2_N; BAT2 N-terminus
XM_024448584.2 → XP_024304352.1 cadherin-related family member 5 isoform X4

Conserved Domains (2) summary

cd11304
Location:274 → 343

Cadherin_repeat; Cadherin tandem repeat domain

cl26464
Location:452 → 665

Atrophin-1; Atrophin-1 family

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187586.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

146482..154854 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328908.1 → XP_054184883.1 cadherin-related family member 5 isoform X5
XM_054328906.1 → XP_054184881.1 cadherin-related family member 5 isoform X3
XM_054328905.1 → XP_054184880.1 cadherin-related family member 5 isoform X2
XM_054328904.1 → XP_054184879.1 cadherin-related family member 5 isoform X1
XM_054328907.1 → XP_054184882.1 cadherin-related family member 5 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

665199..673567 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369143.1 → XP_054225118.1 cadherin-related family member 5 isoform X5
XM_054369141.1 → XP_054225116.1 cadherin-related family member 5 isoform X3
XM_054369140.1 → XP_054225115.1 cadherin-related family member 5 isoform X2
XM_054369139.1 → XP_054225114.1 cadherin-related family member 5 isoform X1
XM_054369142.1 → XP_054225117.1 cadherin-related family member 5 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_017717.3: Suppressed sequence

Description

NM_017717.3: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
NM_031265.1: Suppressed sequence

Description

NM_031265.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate, and there is an insufficient support for the transcript.