Gene

syne2b

ID
ZDB-GENE-071218-5
Name
spectrin repeat containing, nuclear envelope 2b
Symbol
syne2b Nomenclature History
Previous Names
  • id:ibd5137
  • si:dkey-249p9.3
  • wu:fc12c11 (1)
  • wu:fc31e06
  • wu:fc62a06
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to have actin binding activity. Predicted to localize to integral component of membrane and nucleus. Is expressed in heart; neural keel; primary neuron hindbrain; primary neurons; and shield. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 5. Orthologous to human SYNE2 (spectrin repeat containing nuclear envelope protein 2).
Genome Resources
Note
None
Expression
All Expression Data
4 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With syne2b 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 syne2b 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 IPR030266 Nesprin-2
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 Nesprin-2 Spectrin/alpha-actinin Spectrin repeat
UniProtKB:A0A0R4IBE3 750
UniProtKB:B8JJL1 207
UniProtKB:F1QGB0 280
UniProtKB:F1RAC6 1153
UniProtKB:B8JJL0 168
UniProtKB:F1QZ70 252
UniProtKB:F1QXL4 272
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations