Gene

sptbn2

ID

ZDB-GENE-030131-787

Name

spectrin, beta, non-erythrocytic 2

Symbol

sptbn2 Nomenclature History

Previous Names

fb48h06
si:dkey-99p10.2
wu:fb48h06

Type

protein_coding_gene

Location

Chr: 5 Mapping Details/Browsers

Description

Predicted to have actin binding activity and phospholipid binding activity. Predicted to be involved in actin filament capping. Predicted to localize to spectrin. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 14 and spinocerebellar ataxia type 5. Orthologous to human SPTBN2 (spectrin beta, non-erythrocytic 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Sánchez et al., 2018

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

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 sptbn2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive spinocerebellar ataxia 14	Alliance	Spinocerebellar ataxia, autosomal recessive 14	615386
spinocerebellar ataxia type 5	Alliance	Spinocerebellar ataxia 5	600224

Associated With sptbn2 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	IPR001605	Pleckstrin homology domain, spectrin-type
Domain	IPR001715	Calponin homology domain
Domain	IPR001849	Pleckstrin homology domain
Domain	IPR041681	Pleckstrin homology domain 9
Family	IPR016343	Spectrin, beta subunit
Homologous_superfamily	IPR011993	PH-like domain superfamily
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	PH-like domain superfamily	Pleckstrin homology domain	Pleckstrin homology domain 9	Pleckstrin homology domain, spectrin-type	Spectrin/alpha-actinin	Spectrin, beta subunit	Spectrin repeat
UniProtKB:A0A8M2BCP3 InterPro	2389
UniProtKB:A0A8M9PXP3 InterPro	2206
UniProtKB:A0A8M9PK72 InterPro	2355
UniProtKB:A0A8M2BCL2 InterPro	2372
UniProtKB:F1QXB0 InterPro	2391