dsg2.1 desmoglein 2, tandem duplicate 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: dsg2.1provided by ZNC
Official Full Name: desmoglein 2, tandem duplicate 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-7531
See related: Ensembl:ENSDARG00000076945 AllianceGenome:ZFIN:ZDB-GENE-030131-7531
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: dsc; dsg2; dsga; wu:fj23f02; si:dkeyp-51f12.6
Summary: Predicted to enable calcium ion binding activity. Acts upstream of or within convergent extension involved in gastrulation; desmosome assembly; and epiboly involved in gastrulation with mouth forming second. Predicted to be located in desmosome and plasma membrane. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 10; dilated cardiomyopathy; and dilated cardiomyopathy 1BB. Orthologous to human DSG2 (desmoglein 2). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 20

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	20	NC_007131.7 (7327627..7350653)
105	previous assembly	GRCz10 (GCF_000002035.5)	20	NC_007131.6 (7337748..7360774)

Chromosome 20 - NC_007131.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Both zfDsc and zfDsgalpha were present as maternal and zygotic transcripts whereas zfDsgbeta was first expressed from 8 hours post-fertilisation.
Title: Desmosomal cadherins in zebrafish epiboly and gastrulation.

Submit: New GeneRIF Correction

General gene information

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Markers

G45438 (e-PCR)
- UniSTS:106240

fl18f02.x1 (e-PCR)
- UniSTS:202023

fk77g03.x1 (e-PCR)
- UniSTS:201525

AW202887 (e-PCR)
- UniSTS:205720

fj23f02.y1 (e-PCR)
- UniSTS:198830

fl09f10.x1 (e-PCR)
- UniSTS:201959

Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within convergent extension involved in gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within desmosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epiboly involved in gastrulation with mouth forming second	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in desmosome	IBA Inferred from Biological aspect of Ancestor more info
located_in desmosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: desmoglein-2.1

Names: Dsg alpha; desmocollin a

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_001256637.1 → NP_001243566.1 desmoglein-2.1 precursor

See identical proteins and their annotated locations for NP_001243566.1

Status: PROVISIONAL

Source sequence(s)

JQ013461

UniProtKB/Swiss-Prot

H2EQR6

Related

ENSDART00000165596.2

Conserved Domains (3) summary

cd11304
Location:156 → 254

Cadherin_repeat; Cadherin tandem repeat domain

smart00112
Location:74 → 146

CA; Cadherin repeats

pfam01049
Location:806 → 853

Cadherin_C; Cadherin cytoplasmic region