als2b

ID

ZDB-GENE-080929-1

Name

alsin Rho guanine nucleotide exchange factor ALS2 b

Symbol

als2b Nomenclature History

Previous Names

wu:fi21b09

Type

protein_coding_gene

Location

Chr: 6 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in endosomal transport. Predicted to be active in centrosome; cytoplasm; and dendrite. Is expressed in head; muscle; retinal inner nuclear layer; and retinal outer nuclear layer. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 2; hereditary spastic paraplegia; and motor neuron disease. Orthologous to human ALS2 (alsin Rho guanine nucleotide exchange factor ALS2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

3 figures from 2 publications

Cross-Species Comparison

High Throughput Data

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: 2 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With als2b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
amyotrophic lateral sclerosis type 2	Alliance	Amyotrophic lateral sclerosis 2, juvenile	205100
		Primary lateral sclerosis, juvenile	606353
		Spastic paralysis, infantile onset ascending	607225

Associated With als2b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000219	Dbl homology domain
Domain	IPR001849	Pleckstrin homology domain
Domain	IPR003123	VPS9 domain
Domain	IPR057248	Alsin-like, PH-like domain
Domain	IPR059093	Alsin, helical array domain
Family	IPR051984	Alsin
Homologous_superfamily	IPR009091	Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR035899	Dbl homology (DH) domain superfamily
Homologous_superfamily	IPR037191	VPS9 domain superfamily
Repeat	IPR000408	Regulator of chromosome condensation, RCC1
Repeat	IPR003409	MORN repeat

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:F8W4K3	InterPro	1681
UniProtKB:A0A8M3B372	InterPro	1706
UniProtKB:A0A8M3AT50	InterPro	1689
UniProtKB:A0A8M2BD05	InterPro	1698
UniProtKB:A0A8M3B085	InterPro	1703
UniProtKB:A0AC58JTI1	InterPro	1695
UniProtKB:A0ACD6B6U7	InterPro	1681