Gene

actb2

ID

ZDB-GENE-000329-3

Name

actin, beta 2

Symbol

actb2 Nomenclature History

Previous Names

bact2
bactin2 (1)
fa56g06
fb38a10
wu:fa56g06 (1)
wu:fb38a10 (1)

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in synaptic vesicle endocytosis. Predicted to localize to several cellular components, including actin filament; dense body; and focal adhesion. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome and autosomal dominant nonsyndromic deafness 20. Is expressed in several structures, including blastomere; brain; eye; musculature system; and pleuroperitoneal region. Orthologous to several human genes including ACTB (actin beta).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

23 figures from 18 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:56040 (1 image)

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 actb2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Baraitser-Winter syndrome 1	Alliance	Baraitser-Winter syndrome 1	243310
		Becker nevus, syndromic or isolated, somatic mosaic	604919
		Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic	620470
		Dystonia-deafness syndrome 1	607371
		Thrombocytopenia 8, with dysmorphic features and developmental delay	620475

Associated With actb2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR004001	Actin, conserved site
Conserved_site	IPR020902	Actin/actin-like conserved site
Family	IPR004000	Actin family
Homologous_superfamily	IPR043129	ATPase, nucleotide binding domain

Domain Details Per Protein

Protein	Length	Actin/actin-like conserved site	Actin, conserved site	Actin family	ATPase, nucleotide binding domain
UniProtKB:Q7ZVF9 InterPro	375
UniProtKB:A8WG05 InterPro	375

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
aberrant processed transcript	actb2-207 (1) Ensembl	Ensembl	1,118 nt	Select Tool ZFIN BLAST
mRNA	actb2-201 (1) Ensembl	Ensembl	1,762 nt	Select Tool ZFIN BLAST
mRNA	actb2-206 (1) Ensembl	Ensembl	1,789 nt	Select Tool ZFIN BLAST
mRNA	actb2-208 (1) Ensembl	Ensembl	1,145 nt	Select Tool ZFIN BLAST
ncRNA	actb2-003 (1) Ensembl	Ensembl	730 nt	Select Tool ZFIN BLAST
ncRNA	actb2-004 (1) Ensembl	Ensembl	857 nt	Select Tool ZFIN BLAST
ncRNA	actb2-005 (1) Ensembl	Ensembl	867 nt	Select Tool ZFIN BLAST
ncRNA	actb2-006 (1) Ensembl	Ensembl	842 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

Addgene:162069

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations