CDHR3 cadherin related family member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDHR3provided by HGNC
Official Full Name: cadherin related family member 3provided by HGNC
Primary source: HGNC:HGNC:26308
See related: Ensembl:ENSG00000128536 MIM:615610; AllianceGenome:HGNC:26308
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CDH28
Summary: Predicted to enable beta-catenin binding activity and cadherin binding activity. Predicted to be involved in several processes, including calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules; cell-cell adhesion mediated by cadherin; and cell-cell junction organization. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lung (RPKM 2.7), stomach (RPKM 0.9) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q22.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (105963264..106036432)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (107278676..107351843)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (105603710..105676878)

Chromosome 7 - NC_000007.14 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 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?

Genome-wide study of early and severe childhood asthma identifies interaction between CDHR3 and GSDMB.
Title: Genome-wide study of early and severe childhood asthma identifies interaction between CDHR3 and GSDMB.
The role of CDHR3 in susceptibility to otitis media.
Title: The role of CDHR3 in susceptibility to otitis media.
Genetic impact of CDHR3 on the adult onset of asthma and COPD.
Title: Genetic impact of CDHR3 on the adult onset of asthma and COPD.
Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility.
Title: Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility.
Genetic susceptibility to severe childhood asthma and rhinovirus-C maintained by balancing selection in humans for 150 000 years.
Title: Genetic susceptibility to severe childhood asthma and rhinovirus-C maintained by balancing selection in humans for 150 000 years.
Cadherin-related family member 3 upregulates the effector functions of eosinophils.
Title: Cadherin-related family member 3 upregulates the effector functions of eosinophils.
Cadherin-related family member 3 gene impacts childhood asthma in Chinese children.
Title: Cadherin-related family member 3 gene impacts childhood asthma in Chinese children.
The rs6967330 SNP of CDHR3 confers risk of severe childhood asthma exacerbations, likely through increasing HRV-C infection levels and protein surface localization.
Title: Functional genomics of CDHR3 confirms its role in HRV-C infection and childhood asthma exacerbations.
Polymorphisms in CDHR3 rs6967330 locus (G-->A) previously associated with childhood asthma were related to differences in CDHR3 expression and epithelial cell function. The rs6967330 A allele was associated with higher overall protein expression and RV-C binding and replication compared with the rs6967330 G allele. The rs6967330 A allele was associated with earlier ciliogenesis and higher FOXJ1 expression.
Title: CDHR3 Asthma-Risk Genotype Affects Susceptibility of Airway Epithelium to Rhinovirus C Infections.
A single nucleotide polymorphism (rs6967330) in CDHR3 increases cell surface expression of this protein and, as a result, also promotes Human rhinovirus-C infections and illnesses.
Title: Rhinoviruses and Their Receptors.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

EBI GWAS Catalog

Description
A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies genetic determinants of warfarin responsiveness for Japanese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-30998 (e-PCR)
- UniSTS:74559

RH16394 (e-PCR)
- UniSTS:24419

D10S16 (e-PCR)
- UniSTS:155756

D7S2453 (e-PCR), detects polymorphism
- UniSTS:40318

SHGC-35222 (e-PCR)
- UniSTS:67207

D7S2390 (e-PCR)
- UniSTS:14226

GDB:6028542 (e-PCR)
- UniSTS:60052

L17971 (e-PCR)
- UniSTS:43966

D7S2840 (e-PCR)
- UniSTS:38876

D13S1639 (e-PCR)
- UniSTS:473568

D7S2453 (e-PCR), detects polymorphism
- UniSTS:80626

D7S2305 (e-PCR)
- UniSTS:39928

Clone Names

FLJ23834, FLJ43271, MGC133292, MGC133293

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in adherens junction organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion mediated by cadherin	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
is_active_in axon terminus	IBA Inferred from Biological aspect of Ancestor more info
part_of catenin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic cleft	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cadherin-related family member 3

Names: cadherin-like protein 28

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_001301161.2 → NP_001288090.1 cadherin-related family member 3 isoform 2

See identical proteins and their annotated locations for NP_001288090.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks part of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC004836, AK304118, BC111696

Consensus CDS

CCDS75651.1

UniProtKB/TrEMBL

B7Z8X2, E7EQG5

Related

ENSP00000417771.1, ENST00000478080.5

Conserved Domains (1) summary

cd11304
Location:377 → 473

Cadherin_repeat; Cadherin tandem repeat domain
NM_152750.5 → NP_689963.2 cadherin-related family member 3 isoform 1 precursor

See identical proteins and their annotated locations for NP_689963.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC004836, AK126338, BC111738

Consensus CDS

CCDS47684.1

UniProtKB/Swiss-Prot

Q6ZTQ4, Q8TCI7

UniProtKB/TrEMBL

B3KYA0

Related

ENSP00000325954.9, ENST00000317716.14

Conserved Domains (1) summary

cd11304
Location:465 → 561

Cadherin_repeat; Cadherin tandem repeat domain