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 peripheral nervous system development. Localizes to nucleus. Used to study coloboma. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 7 and renal coloboma syndrome. Is expressed in several structures, including immature eye; mesoderm; nervous system; neural keel; and pronephros. Orthologous to human PAX2 (paired box 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

809 figures from 562 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb378 (47 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 70 figures from 38 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	Homedomain-like superfamily
Homologous_superfamily	IPR036388	Winged helix-like DNA-binding domain superfamily

Domain Details Per Protein

Protein	Length	Homedomain-like superfamily	Paired-box protein 2 C-terminal	Paired DNA-binding domain	Paired domain	PAX family	Winged helix-like DNA-binding domain superfamily
UniProtKB:A0A8M2B3N2 InterPro	421
UniProtKB:A0A8M9PXM3 InterPro	296
UniProtKB:A0A8M9Q9I1 InterPro	410
UniProtKB:A0A8M6Z1K8 InterPro	461
UniProtKB:A0A8M6Z270 InterPro	515
UniProtKB:A0A8M9QN93 InterPro	425
UniProtKB:A0A8M9Q9H0 InterPro	495
UniProtKB:A0A8M9QN89 InterPro	480
UniProtKB:A0A8M9QJH4 InterPro	504
UniProtKB:A0A8M9QF73 InterPro	395
UniProtKB:A0A8M2B2T3 InterPro	406
UniProtKB:A0A8M9Q9I5 InterPro	292
UniProtKB:A0A8M9QN86 InterPro	504
UniProtKB:A0A8M9PXL0 InterPro	449
UniProtKB:A0A8M9QJI2 InterPro	417
UniProtKB:A0A8M9Q9H5 InterPro	434
UniProtKB:A0A8M9PXK5 InterPro	502
UniProtKB:A0A8M9QF68 InterPro	432
UniProtKB:A0A8M6Z3Q2 InterPro	491
UniProtKB:A0A8M9QJI6 InterPro	318
UniProtKB:A0A8M9PXL5 InterPro	410
UniProtKB:A0A8M9QF63 InterPro	487
UniProtKB:A0A8M9Q9G5 InterPro	519
UniProtKB:Q90268 InterPro	410
UniProtKB:A0A8M6Z9H7 InterPro	476
UniProtKB:A0A8M2B324 InterPro	508
UniProtKB:B8JJS4 InterPro	406
UniProtKB:A0A8M9QF58 InterPro	512
UniProtKB:A0A8M9QJH9 InterPro	465
UniProtKB:A0A8M9QN98 InterPro	335

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pax2a-201 (1) Ensembl	Ensembl	4,201 nt	Select Tool ZFIN BLAST
mRNA	pax2a-202 (1) Ensembl	Ensembl	3,050 nt	Select Tool
mRNA	pax2a-203 (1) Ensembl	Ensembl	1,148 nt	Select Tool
mRNA	pax2a-205 (1) Ensembl	Ensembl	1,126 nt	Select Tool
mRNA	pax2a-206 (1) Ensembl	Ensembl	1,221 nt	Select Tool
mRNA	pax2a-207 (1) Ensembl	Ensembl	879 nt	Select Tool
mRNA	pax2a-208 (1) Ensembl	Ensembl	1,202 nt	Select Tool
mRNA	pax2a-209 (1) Ensembl	Ensembl	1,190 nt	Select Tool
mRNA	pax2a-210 (1) Ensembl	Ensembl	1,171 nt	Select Tool
mRNA	pax2a-211 (1) Ensembl	Ensembl	1,145 nt	Select Tool
mRNA	pax2a-212 (1) Ensembl	Ensembl	4,267 nt	Select Tool ZFIN BLAST
mRNA	pax2a-213 (1) Ensembl	Ensembl	4,246 nt	Select Tool ZFIN BLAST
ncRNA	pax2a-006 (1) Ensembl	Ensembl	323 nt	Select Tool

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	4
Ab1-pax2	polyclonal	pax2a		Rabbit	IHC	Covance	27
Ab1-pax2a	polyclonal	pax2a		Rabbit	IHC WB		5

Plasmids

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations