Gene

pax2b

ID

ZDB-GENE-001030-4

Name

paired box 2b

Symbol

pax2b Nomenclature History

Previous Names

pax2.2
Pax2.2

Type

protein_coding_gene

Location

Chr: 12 Mapping Details/Browsers

Description

Predicted to have DNA binding activity. Involved in peripheral nervous system development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 7 and renal coloboma syndrome. Is expressed in several structures, including midbrain hindbrain boundary neural keel; midbrain hindbrain boundary neural rod; nervous system; optic vesicle; and spinal cord neural tube. Orthologous to human PAX2 (paired box 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

17 figures from 12 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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 pax2b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
focal segmental glomerulosclerosis 7	Alliance	Glomerulosclerosis, focal segmental, 7	616002
renal coloboma syndrome	Alliance	Papillorenal syndrome	120330

Associated With pax2b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001523	Paired domain
Domain	IPR022130	Paired-box protein 2 C-terminal
Domain	IPR043182	Paired DNA-binding domain
Family	IPR043565	PAX family
Homologous_superfamily	IPR009057	Homeobox-like domain superfamily
Homologous_superfamily	IPR036388	Winged helix-like DNA-binding domain superfamily

Domain Details Per Protein

Protein	Length	Homeobox-like domain superfamily	Paired-box protein 2 C-terminal	Paired DNA-binding domain	Paired domain	PAX family	Winged helix-like DNA-binding domain superfamily
UniProtKB:O93370 InterPro	386

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pax2b-202 (1) Ensembl	Havana	1467 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax2b-203 (1) Ensembl	Havana	735 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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