Gene

sh3pxd2b

ID
ZDB-GENE-060810-52
Name
SH3 and PX domains 2B
Symbol
sh3pxd2b Nomenclature History
Previous Names
  • im:7155315
  • wu:fb09f08
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to have phosphatidylinositol binding activity and superoxide-generating NADPH oxidase activator activity. Predicted to be involved in superoxide metabolic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in Frank-Ter Haar syndrome. Is expressed in several structures, including central nervous system; notochord; otic vesicle; segmental plate; and tail bud. Orthologous to human SH3PXD2B (SH3 and PX domains 2B).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from de Vos et al., 2020
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With sh3pxd2b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Frank-Ter Haar syndrome Alliance Frank-ter Haar syndrome 249420
Associated With sh3pxd2b Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001452 SH3 domain
Domain IPR001683 Phox homology
Domain IPR035477 SH3PXD2B, SH3 domain 1
Domain IPR035478 SH3PXD2B, SH3 domain 2
Domain IPR035479 SH3PXD2B, SH3 domain 3
Domain IPR035480 SH3PXD2B, SH3 domain 4
Domain IPR037961 SH3PXD2, PX domain
Family IPR001655 Neutrophil cytosol factor 1
Homologous_superfamily IPR036028 SH3-like domain superfamily
Homologous_superfamily IPR036871 PX domain superfamily
Domain Details Per Protein
Protein Length Neutrophil cytosol factor 1 Phox homology PX domain superfamily SH3 domain SH3-like domain superfamily SH3PXD2B, SH3 domain 1 SH3PXD2B, SH3 domain 2 SH3PXD2B, SH3 domain 3 SH3PXD2B, SH3 domain 4 SH3PXD2, PX domain
UniProtKB:A0A0R4IMX7 880
UniProtKB:A0A8M9PRL0 879
UniProtKB:A0A0R4IRP5 868
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations