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 enable actin filament binding activity. Predicted to be involved in actin cytoskeleton organization. Predicted to be located in several cellular components, including cell cortex; cytoskeleton; and cytosol. Predicted to be part of spectrin. Predicted to be active in several cellular components, including cell junction; cortical actin cytoskeleton; and plasma membrane. 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	Additional Resources	Length
UniProtKB:A0A8M2BCP3	InterPro	2389
UniProtKB:A0A8M9PXP3	InterPro	2206
UniProtKB:A0A8M9PK72	InterPro	2355
UniProtKB:A0A8M2BCL2	InterPro	2372
UniProtKB:F1QXB0	InterPro	2391
UniProtKB:A0AB13A924	InterPro	2389
UniProtKB:A0AB32TPB5	InterPro	2338
UniProtKB:A0AB32TPI4	InterPro	2355
UniProtKB:A0AB32TRJ9	InterPro	2398
UniProtKB:A0AB32TTN2	InterPro	2381