CDH15 cadherin 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDH15provided by HGNC
Official Full Name: cadherin 15provided by HGNC
Primary source: HGNC:HGNC:1754
See related: Ensembl:ENSG00000129910 MIM:114019; AllianceGenome:HGNC:1754
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: CDH3; CDHM; MCAD; MRD3; CDH14
Summary: This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (89171748..89195492)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (95251870..95275698)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (89238156..89261900)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

A potential role for the CDH13/CDH15 gene in repeat revascularization after first percutaneous coronary intervention.
Title: A potential role for the CDH13/CDH15 gene in repeat revascularization after first percutaneous coronary intervention.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
Alterations in CDH15 in patients with mild to severe intellectual disability are reported.
Title: Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.
The cell adhesion molecule M-cadherin is not essential for muscle development and regeneration.
Title: The cell adhesion molecule M-cadherin is not essential for muscle development and regeneration.

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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

Associated conditions

Description	Tests
Intellectual disability, autosomal dominant 3 MedGen: C2675488 OMIM: 612580 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-08-08) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2013-08-08) ClinGen Genome Curation Page

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

RH80776 (e-PCR)
- UniSTS:86233

SHGC-149631 (e-PCR)
- UniSTS:177126

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

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 adhesion	TAS Traceable Author Statement more info	PubMed
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

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in adherens 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 caveola	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cadherin-15

Names: cadherin 15, type 1, M-cadherin (myotubule); cadherin-14; cadherin-3; muscle-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.

Genomic

NG_012055.1 RefSeqGene

Range

4994..28738

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004933.3 → NP_004924.1 cadherin-15 preproprotein

See identical proteins and their annotated locations for NP_004924.1

Status: REVIEWED

Source sequence(s)

AC009113, AW452260, D83542

Consensus CDS

CCDS10976.1

UniProtKB/Swiss-Prot

P55291

Related

ENSP00000289746.2, ENST00000289746.3

Conserved Domains (3) summary

cd11304
Location:157 → 256

Cadherin_repeat; Cadherin tandem repeat domain

pfam01049
Location:640 → 781

Cadherin_C; Cadherin cytoplasmic region

cl09101
Location:487 → 580

E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus