Gene

pax6a

ID

ZDB-GENE-990415-200

Name

paired box 6a

Symbol

pax6a Nomenclature History

Previous Names

pax-a
Pax6.1
pax6
pax[zf-a] (1)
paxzfa
zfpax-6a
cb280 (1)
etID309716.25 (1)
fc20e07
wu:fc20e07 (1)
zfpax-6b

Type

protein_coding_gene

Location

Chr: 25 Mapping Details/Browsers

Description

Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Involved in several processes, including anterior/posterior pattern specification; nervous system development; and positive regulation of transcription by RNA polymerase II. Localizes to nucleus. Is expressed in several structures, including immature eye; nervous system; neural keel; neural plate; and neural rod. Human ortholog(s) of this gene implicated in bilateral optic nerve hypoplasia; eye disease (multiple); glucose intolerance; and paranoid schizophrenia. Orthologous to human PAX6 (paired box 6).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

214 figures from 161 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

cb280 (19 images)
eu626 (15 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pax6a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
aniridia	Alliance	Aniridia	106210
aniridia	Alliance	Cataract with late-onset corneal dystrophy	106210
anterior segment dysgenesis 5	Alliance	Anterior segment dysgenesis 5, multiple subtypes	604229
autosomal dominant keratitis	Alliance	Keratitis	148190
bilateral optic nerve hypoplasia	Alliance	Optic nerve hypoplasia	165550
coloboma	Alliance	?Coloboma, ocular	120200
coloboma of optic nerve	Alliance	?Coloboma of optic nerve	120430
coloboma of optic nerve	Alliance	?Morning glory disc anomaly	120430
Peters anomaly	Alliance	Anterior segment dysgenesis 5, multiple subtypes	604229
		Foveal hypoplasia 1	136520

Associated With pax6a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017970	Homeobox, conserved site
Domain	IPR001356	Homeobox domain
Domain	IPR001523	Paired domain
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, conserved site	Homeobox domain	Homeobox-like domain superfamily	Paired DNA-binding domain	Paired domain	PAX family	Winged helix-like DNA-binding domain superfamily
UniProtKB:A0A0R4IQ98 InterPro	114
UniProtKB:A0A0R4IDV2 InterPro	74
UniProtKB:A0A0R4IBK7 InterPro	113
UniProtKB:P26630 InterPro	437
UniProtKB:A0A0R4IJK8 InterPro	17
UniProtKB:Q802T9 InterPro	108
UniProtKB:A0A0R4I9X4 InterPro	96
UniProtKB:A0A0R4IXU2 InterPro	441
UniProtKB:A0A0R4IPK2 InterPro	138

Transcripts

Genome Browsers

Type	Name	Length (nt)	Analysis
mRNA	pax6a-201 (1) Ensembl	876 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax6a-202 (1) Ensembl	860 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax6a-203 (1) Ensembl	1006 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax6a-204 (1) Ensembl	2730 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax6a-205 (1) Ensembl	2797 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax6a-206 (1) Ensembl	933 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax6a-207 (1) Ensembl	1922 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax6a-208 (1) Ensembl	911 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pax6a-210 (1) Ensembl	699 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	pax6a-010 (1) Ensembl	306 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
Ab2-pax6a	polyclonal	pax6a		Rabbit	IHC		5
Ab2-pax6	polyclonal	pax6a pax6b		Rabbit	IHC		2
Ab1-pax6a	polyclonal	pax6a	IgG	Rabbit	IHC	AnaSpec	3

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations