Gene

syne1b

ID
ZDB-GENE-071218-4
Name
spectrin repeat containing, nuclear envelope 1b
Symbol
syne1b Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Predicted to have actin filament binding activity. Involved in heart development. Predicted to localize to cytoplasm; meiotic nuclear membrane microtubule tethering complex; and nuclear outer membrane. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 4; autosomal recessive spinocerebellar ataxia 8; bipolar disorder; cerebellar ataxia; and muscular dystrophy. Orthologous to human SYNE1 (spectrin repeat containing nuclear envelope protein 1).
Genome Resources
Note
None
Expression
All Expression Data
text only from Haskell et al., 2017
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from Haskell et al., 2017
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With syne1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant Emery-Dreifuss muscular dystrophy 4 Alliance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
autosomal recessive spinocerebellar ataxia 8 Alliance Spinocerebellar ataxia, autosomal recessive 8 610743
Arthrogryposis multiplex congenita 3, myogenic type 618484
Associated With syne1b 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 IPR030265 Nesprin-1
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-1 Spectrin/alpha-actinin Spectrin repeat
UniProtKB:E7EZ30 8710
UniProtKB:F8W2N1 113
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations