emd emerin [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: emdprovided by ZNC
Official Full Name: emerinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-070501-2
See related: Ensembl:ENSDARG00000095774 AllianceGenome:ZFIN:ZDB-GENE-070501-2
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary: Acts upstream of or within cardiac conduction. Predicted to be located in membrane. Is expressed in heart. Human ortholog(s) of this gene implicated in Emery-Dreifuss muscular dystrophy; X-linked Emery-Dreifuss muscular dystrophy 1; and dilated cardiomyopathy. Orthologous to human EMD (emerin). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: chromosome: 23

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	23	NC_007134.7 (19813692..19822229)
105	previous assembly	GRCz10 (GCF_000002035.5)	23	NC_007134.6 (19887332..19895883)

Chromosome 23 - NC_007134.7 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?

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General gene information

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Markers

fb09h10.x1 (e-PCR)
- UniSTS:189989

fj58f01.x1 (e-PCR)
- UniSTS:188714

Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: emerin (Emery-Dreifuss muscular dystrophy)

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_001386483.1 → NP_001373412.1 emerin (Emery-Dreifuss muscular dystrophy) isoform 1

Status: VALIDATED

Description

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

Source sequence(s)

CR352234

UniProtKB/TrEMBL

A0A8M9PG38, A0A8M9PWT2, E9QIK0

Related

ENSDARP00000117124.2, ENSDART00000139192.4

Conserved Domains (1) summary

cl02649
Location:4 → 46

LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins
NM_001386484.1 → NP_001373413.1 emerin (Emery-Dreifuss muscular dystrophy) isoform 2

Status: VALIDATED

Source sequence(s)

CR352234

UniProtKB/TrEMBL

A0A8M2B902, A0A8M9Q7T6, E9QFP7

Related

ENSDARP00000119205.2, ENSDART00000142308.3

Conserved Domains (1) summary

cl02649
Location:4 → 46

LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins