CDH5 cadherin 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDH5provided by HGNC
Official Full Name: cadherin 5provided by HGNC
Primary source: HGNC:HGNC:1764
See related: Ensembl:ENSG00000179776 MIM:601120; AllianceGenome:HGNC:1764
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: 7B4; CD144
Summary: This gene encodes a classical cadherin of the cadherin superfamily. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Functioning as a classical cadherin by imparting to cells the ability to adhere in a homophilic manner, this protein plays a role in endothelial adherens junction assembly and maintenance. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. [provided by RefSeq, Nov 2015]
Expression: Biased expression in placenta (RPKM 108.8), lung (RPKM 57.5) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q21

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (66366691..66404784)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (72161057..72198985)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (66400594..66438687)

Chromosome 16 - NC_000016.10 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?

TIMP2 ameliorates blood-brain barrier disruption in traumatic brain injury by inhibiting Src-dependent VE-cadherin internalization.
Title: TIMP2 ameliorates blood-brain barrier disruption in traumatic brain injury by inhibiting Src-dependent VE-cadherin internalization.
Fibrinogen Fragment X Mediates Endothelial Barrier Disruption via Suppression of VE-Cadherin.
Title: Fibrinogen Fragment X Mediates Endothelial Barrier Disruption via Suppression of VE-Cadherin.
HMGB1 Release Induced by EV71 Infection Exacerbates Blood-Brain Barrier Disruption via VE-cadherin Phosphorylation.
Title: HMGB1 Release Induced by EV71 Infection Exacerbates Blood-Brain Barrier Disruption via VE-cadherin Phosphorylation.
A comprehensive pan-cancer analysis of CDH5 in immunological response.
Title: A comprehensive pan-cancer analysis of CDH5 in immunological response.
VE-Cadherin in Cancer-Associated Angiogenesis: A Deceptive Strategy of Blood Vessel Formation.
Title: VE-Cadherin in Cancer-Associated Angiogenesis: A Deceptive Strategy of Blood Vessel Formation.
[Porphyromonas gingivalis infection causes umbilical vein endothelial barrier dysfunction in vitro by down-regulating ZO-1, occludin and VE-cadherin expression].
Title: [Porphyromonas gingivalis infection causes umbilical vein endothelial barrier dysfunction in vitro by down-regulating ZO-1, occludin and VE-cadherin expression].
CDH5, a Possible New Candidate Gene for Genetic Testing of Lymphedema.
Title: CDH5, a Possible New Candidate Gene for Genetic Testing of Lymphedema.
In-depth bioinformatic study of the cadherin 5 interactome in patients with thoracic aortic aneurysm unveils 8 novel biomarkers.
Title: In-depth bioinformatic study of the cadherin 5 interactome in patients with thoracic aortic aneurysm unveils 8 novel biomarkers.
A novel transcriptional complex on the VE-cadherin promoter regulated the downregulation of VE-cadherin in the Down Syndrome Candidate Region 1 isoform 1L-mediated angiogenesis.
Title: A novel transcriptional complex on the VE-cadherin promoter regulated the downregulation of VE-cadherin in the Down Syndrome Candidate Region 1 isoform 1L-mediated angiogenesis.
Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy.
Title: Associations of Single-Nucleotide Polymorphisms in Slovenian Patients with Acute Central Serous Chorioretinopathy.

Submit: New GeneRIF Correction See all GeneRIFs (219)

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
Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH). 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat C treated human brain microvascular endothelial cells result in downregulation and dissociation of VE-PTP and SHP2 from VE-cadherin	PubMed
	tat	HIV-1 Tat C induces phosphorylation of adherens junction proteins VE-cadherin and beta-catenin in human brain microvascular endothelial cells	PubMed
	tat	Treatment of human brain microvascular endothelial cells with HIV-1 Tat downregulates the expression of VE-cadherin, claudin-5, ZO-1, and occludin proteins in a dose- and time-dependent manner	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S3319 (e-PCR)
- UniSTS:47143

CDH5_1 (e-PCR)
- UniSTS:277088

SHGC-60813 (e-PCR)
- UniSTS:34035

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BMP receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables cadherin binding	IBA Inferred from Biological aspect of Ancestor more info
enables fibrinogen binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed
enables vascular endothelial growth factor receptor 2 binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adherens junction organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in adherens junction organization	IDA Inferred from Direct Assay more info	PubMed
involved_in bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood vessel maturation	IEA Inferred from Electronic Annotation 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	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell adhesion mediated by cadherin	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion mediated by cadherin	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell junction assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in intracellular calcium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of negative regulation of endothelial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inflammatory response	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of microtubule polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of establishment of endothelial barrier	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein dephosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to bicellular tight junction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of establishment of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of vascular permeability	IDA Inferred from Direct Assay more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in adherens junction	IBA Inferred from Biological aspect of Ancestor more info
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in adherens junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in bicellular tight junction	IBA Inferred from Biological aspect of Ancestor more info
part_of catenin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell junction	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cadherin-5

Names: 7B4 antigen; VE-cadherin; cadherin 5, type 2 (vascular endothelium); cadherin 5, type 2, VE-cadherin (vascular epithelium); cd144 antigen; endothelial-specific cadherin; vascular endothelial cadherin

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_001795.5 → NP_001786.2 cadherin-5 preproprotein

See identical proteins and their annotated locations for NP_001786.2

Status: REVIEWED

Source sequence(s)

AB209908, BQ716387, X59796, X79981

Consensus CDS

CCDS10804.1

UniProtKB/Swiss-Prot

P33151, Q4VAI5, Q4VAI6

UniProtKB/TrEMBL

Q59EA3

Related

ENSP00000344115.3, ENST00000341529.8

Conserved Domains (4) summary

cd11304
Location:156 → 254

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:79 → 149

CA; Cadherin repeats

pfam00028
Location:263 → 364

Cadherin; Cadherin domain

pfam01049
Location:633 → 775

Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

66366691..66404784

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047433470.1 → XP_047289426.1 cadherin-5 isoform X1
XM_047433469.1 → XP_047289425.1 cadherin-5 isoform X1
XM_047433471.1 → XP_047289427.1 cadherin-5 isoform X2

UniProtKB/Swiss-Prot

P33151, Q4VAI5, Q4VAI6

Related

ENSP00000497290.1, ENST00000649567.1
XM_011522801.3 → XP_011521103.1 cadherin-5 isoform X1

UniProtKB/TrEMBL

Q59EA3

Conserved Domains (4) summary

cd11304
Location:156 → 254

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:79 → 149

CA; Cadherin repeats

pfam00028
Location:272 → 373

Cadherin; Cadherin domain

pfam01049
Location:635 → 786

Cadherin_C; Cadherin cytoplasmic region

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

72161057..72198985

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379335.1 → XP_054235310.1 cadherin-5 isoform X1
XM_054379334.1 → XP_054235309.1 cadherin-5 isoform X1
XM_054379336.1 → XP_054235311.1 cadherin-5 isoform X2
XM_054379333.1 → XP_054235308.1 cadherin-5 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001114117.1: Suppressed sequence

Description

NM_001114117.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.