CDH19 cadherin 19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CDH19provided by HGNC
Official Full Name: cadherin 19provided by HGNC
Primary source: HGNC:HGNC:1758
See related: Ensembl:ENSG00000071991 MIM:603016; AllianceGenome:HGNC:1758
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: CDH7; CDH7L2
Summary: This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]
Expression: Broad expression in heart (RPKM 5.1), adrenal (RPKM 2.5) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q22.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (66501083..66604090, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (66699077..66802147, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (64168320..64271327, complement)

Chromosome 18 - NC_000018.10 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The cadherin protein CDH19 mediates cervical carcinoma progression by regulating AKT/NF-kappaB signaling.
Title: The cadherin protein CDH19 mediates cervical carcinoma progression by regulating AKT/NF-κB signaling.
Gene expression profiling of Glioblastoma stem-like cells has shown CDH19 to be an exciting new target for drug development and study of glioblastoma multiforme tumorigenesis
Title: Myelin-forming cell-specific cadherin-19 is a marker for minimally infiltrative glioblastoma stem-like cells.

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

EBI GWAS Catalog

Description
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study. 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

RH120521 (e-PCR)
- UniSTS:133686

STS-N26740 (e-PCR)
- UniSTS:74611

D18S857 (e-PCR), detects polymorphism
- UniSTS:60285

RH65744 (e-PCR)
- UniSTS:58028

CDH19_4537 (e-PCR)
- UniSTS:462799

SHGC-32555 (e-PCR)
- UniSTS:61676

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

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

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 plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cadherin-19

Names: cadherin 19, 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_001271028.2 → NP_001257957.1 cadherin-19 isoform 2 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC090393, AC091643, AK304000, AK315257

Consensus CDS

CCDS59325.1

UniProtKB/TrEMBL

J3KTP3

Related

ENSP00000439593.1, ENST00000540086.5

Conserved Domains (1) summary

cd11304
Location:152 → 252

Cadherin_repeat; Cadherin tandem repeat domain
NM_021153.4 → NP_066976.1 cadherin-19 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_066976.1

Status: REVIEWED

Description

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

Source sequence(s)

AC090393, AC091643, AJ007607, AK315257

Consensus CDS

CCDS11994.1

UniProtKB/Swiss-Prot

B4E1V5, F5H1K0, Q9H159

Related

ENSP00000262150.2, ENST00000262150.7

Conserved Domains (2) summary

cd11304
Location:152 → 252

Cadherin_repeat; Cadherin tandem repeat domain

pfam01049
Location:627 → 765

Cadherin_C; Cadherin cytoplasmic region

RNA

NR_073130.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC090393, AC091643, AK315257

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_000018.10 Reference GRCh38.p14 Primary Assembly

Range

66501083..66604090 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047437484.1 → XP_047293440.1 cadherin-19 isoform X1

UniProtKB/Swiss-Prot

B4E1V5, F5H1K0, Q9H159
XM_011525931.4 → XP_011524233.1 cadherin-19 isoform X2

Conserved Domains (3) summary

cd11304
Location:164 → 255

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:2 → 43

CA; Cadherin repeats

pfam01049
Location:416 → 554

Cadherin_C; Cadherin cytoplasmic region
XM_011525932.2 → XP_011524234.1 cadherin-19 isoform X3

UniProtKB/TrEMBL

F8VVI9

Related

ENSP00000401998.3, ENST00000454642.3

Conserved Domains (1) summary

cd11304
Location:152 → 252

Cadherin_repeat; Cadherin tandem repeat domain
XM_047437485.1 → XP_047293441.1 cadherin-19 isoform X3

UniProtKB/TrEMBL

F8VVI9