Gene

syne2a

ID

ZDB-GENE-041001-109

Name

spectrin repeat containing, nuclear envelope 2a

Symbol

syne2a Nomenclature History

Previous Names

si:ch211-207i1.2
si:dkey-274c14.2 (1)
si:dkey-274c14.3 (1)

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Involved in nuclear migration and photoreceptor cell maintenance. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 5. Is expressed in eye and eye photoreceptor cell. Orthologous to human SYNE2 (spectrin repeat containing nuclear envelope protein 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

10 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7155910 (2 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Del Bene et al., 2008
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With syne2a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal dominant Emery-Dreifuss muscular dystrophy 5	Alliance	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999

Associated With syne2a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR001589	Actinin-type actin-binding domain, conserved site
Domain	IPR001715	Calponin homology domain
Domain	IPR012315	KASH domain
Family	IPR052403	LINC complex-associated protein
Homologous_superfamily	IPR036872	CH domain superfamily
Repeat	IPR002017	Spectrin repeat
Repeat	IPR018159	Spectrin/alpha-actinin

Domain Details Per Protein

Protein	Length	Actinin-type actin-binding domain, conserved site	Calponin homology domain	CH domain superfamily	KASH domain	LINC complex-associated protein	Spectrin/alpha-actinin	Spectrin repeat
UniProtKB:A0A8M9P2X4 InterPro	7150
UniProtKB:A0A8M9PT07 InterPro	1615
UniProtKB:A0A8M9PPV8 InterPro	7180

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	si:ch211-207i1.2-201 (1) Ensembl	Ensembl	3,002 nt	Select Tool
mRNA	si:ch211-207i1.2-202 (1) Ensembl	Ensembl	774 nt	Select Tool
mRNA	si:ch211-207i1.2-203 (1) Ensembl	Ensembl	23,719 nt	Select Tool
mRNA	si:ch211-207i1.2-204 (1) Ensembl	Ensembl	27,998 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations