CDH24 cadherin 24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDH24provided by HGNC
Official Full Name: cadherin 24provided by HGNC
Primary source: HGNC:HGNC:14265
See related: Ensembl:ENSG00000139880 MIM:618599; AllianceGenome:HGNC:14265
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: CDH11L
Summary: Enables several functions, including alpha-catenin binding activity; beta-catenin binding activity; and delta-catenin binding activity. Acts upstream of or within cell-cell adhesion. Located in cell-cell junction. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in endometrium (RPKM 4.3), gall bladder (RPKM 3.2) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23047067..23057520, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17247688..17258139, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23516276..23526729, complement)

Chromosome 14 - NC_000014.9 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?

Unconventional CDH10, CDH24 and DCHS2 genes harbored frameshift mutations.
Title: Frameshift mutations of cadherin genes DCHS2, CDH10 and CDH24 genes in gastric and colorectal cancers with high microsatellite instability.
cadherin-24 is a novel alternatively spliced type II cadherin
Title: Characterization of cadherin-24, a novel alternatively spliced type II cadherin.

Submit: New GeneRIF Correction

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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Markers

NoName (e-PCR)
- UniSTS:482367

WI-20153 (e-PCR)
- UniSTS:16489

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	IDA Inferred from Direct Assay 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 migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within 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 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 multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
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 cell-cell junction	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-24

Names: cadherin 24, type 2

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_022478.4 → NP_071923.2 cadherin-24 isoform 1 precursor

See identical proteins and their annotated locations for NP_071923.2

Status: VALIDATED

Description

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

Source sequence(s)

AY260901, BC009332, DC310509

Consensus CDS

CCDS9585.1

UniProtKB/Swiss-Prot

D3DS44, Q86UP0, Q86UP1, Q9NT84

UniProtKB/TrEMBL

A8K0L1

Related

ENSP00000380517.3, ENST00000397359.7

Conserved Domains (4) summary

cd11304
Location:154 → 255

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:70 → 148

CA; Cadherin repeats

pfam01049
Location:671 → 812

Cadherin_C; Cadherin cytoplasmic region

cl09101
Location:521 → 615

E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
NM_144985.4 → NP_659422.2 cadherin-24 isoform 2

See identical proteins and their annotated locations for NP_659422.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AY260900, AY358199, BC009332, DC310509

Consensus CDS

CCDS9586.1

UniProtKB/TrEMBL

A8K0L1

Related

ENSP00000434821.2, ENST00000487137.7

Conserved Domains (4) summary

cd11304
Location:379 → 475

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:70 → 148

CA; Cadherin repeats

pfam01049
Location:633 → 774

Cadherin_C; Cadherin cytoplasmic region

cl09101
Location:483 → 577

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

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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

23047067..23057520 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431697.1 → XP_047287653.1 cadherin-24 isoform X2

UniProtKB/TrEMBL

Q96LQ7
XM_011537089.2 → XP_011535391.1 cadherin-24 isoform X1

UniProtKB/TrEMBL

Q96LQ7

Conserved Domains (2) summary

cd11304
Location:154 → 255

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:70 → 148

CA; Cadherin repeats