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 enable superoxide-generating NADPH oxidase activator activity. Acts upstream of or within bone morphogenesis and connective tissue development. Predicted to be located in podosome. Predicted to be active in cytoplasm. Is expressed in several structures, including central nervous system; notochord; otic vesicle; segmental plate; and tail bud. Used to study Frank-Ter Haar syndrome. Human ortholog(s) of this gene implicated in Frank-Ter Haar syndrome. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7155315 (27 images)

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

Human Disease	Fish	Conditions	Citations
Frank-Ter Haar syndrome	sh3pxd2b^{zf3422/zf3422} (AB)	standard conditions	de Vos et al., 2020

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
Family	IPR051228	NADPH Oxidase and PX Domain-Containing
Homologous_superfamily	IPR036028	SH3-like domain superfamily
Homologous_superfamily	IPR036871	PX domain superfamily

Domain Details Per Protein

Protein	Length	NADPH Oxidase and PX Domain-Containing	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 InterPro	880
UniProtKB:A0A8M9PRL0 InterPro	879
UniProtKB:A0A0R4IRP5 InterPro	868

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	sh3pxd2b-202 (1) Ensembl	Ensembl	2,833 nt	Select Tool ZFIN BLAST
mRNA	sh3pxd2b-203 (1) Ensembl	Ensembl	4,561 nt	Select Tool ZFIN BLAST
ncRNA	sh3pxd2b-002 (1) Ensembl	Ensembl	535 nt	Select Tool ZFIN BLAST

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