Gene

pax2a

ID

ZDB-GENE-990415-8

Name

paired box 2a

Symbol

pax2a Nomenclature History

Previous Names

Pax-2
pax-b
pax2.1
Pax2.1
pax2a1
paxb
cb378 (1)
no isthmus
noi
pax[zf-b]

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Description

Exhibits sequence-specific DNA binding activity. Involved in several processes, including animal organ development; cilium assembly; and nervous system development. Localizes to nucleus. Is expressed in several structures, including immature eye; mesoderm; nervous system; neural keel; and pronephros. Used to study coloboma. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 7 and renal coloboma syndrome. Orthologous to human PAX2 (paired box 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

783 figures from 548 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

cb378 (47 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 64 figures from 36 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pax2a 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 pax2a Via Experimental Models

Human Disease	Fish	Conditions	Citations
coloboma	pax2a^tu29a/tu29a	standard conditions	(2)

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:Q90268 InterPro	410
UniProtKB:B8JJS3 InterPro	400
UniProtKB:F1R5S6 InterPro	292
UniProtKB:F1R6E2 InterPro	390
UniProtKB:F1QKT4 InterPro	410
UniProtKB:A0A0R4IAI2 InterPro	417
UniProtKB:B8JJS4 InterPro	406
UniProtKB:F1Q6N9 InterPro	381
UniProtKB:F1QEK2 InterPro	396
UniProtKB:F1QHP2 InterPro	375

Transcripts

Genome Browsers

Type	Name	Length (nt)	Analysis
mRNA	pax2a-202 (1) Ensembl	3050 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax2a-203 (1) Ensembl	1148 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax2a-205 (1) Ensembl	1126 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax2a-206 (1) Ensembl	1221 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax2a-207 (1) Ensembl	879 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax2a-208 (1) Ensembl	1202 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax2a-209 (1) Ensembl	1190 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax2a-210 (1) Ensembl	1171 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax2a-211 (1) Ensembl	1145 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	pax2a-006 (1) Ensembl	323 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab4-pax2a	polyclonal	pax2a	IgG	Rabbit	IHC	Abcam plc	3
Ab1-pax2	polyclonal	pax2a		Rabbit	IHC	Covance	26
Ab1-pax2a	polyclonal	pax2a		Rabbit	IHC WB		5

Plasmids

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations