Gene

pax6b

ID

ZDB-GENE-001031-1

Name

paired box 6b

Symbol

pax6b Nomenclature History

Previous Names

Pax6.2
cb566 (1)
fc09c10
id:ibd5095 (1)
sri(l)
wu:fc09c10 (1)
wu:fc33g08

Type

protein_coding_gene

Location

Chr: 7 Mapping Details/Browsers

Description

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

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

88 figures from 58 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:92546 (36 images)
cb566 (10 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 22 figures from 11 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pax6b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
aniridia 1	Alliance	Aniridia	106210
aniridia 1	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	Microphthalmia/coloboma 12	120200
coloboma of optic nerve	Alliance	?Coloboma of optic nerve	120430
coloboma of optic nerve	Alliance	?Morning glory disc anomaly	120430
foveal hypoplasia 1	Alliance	Foveal hypoplasia 1	136520
Peters anomaly	Alliance	Anterior segment dysgenesis 5, multiple subtypes	604229

Associated With pax6b 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	Homeodomain
Domain	IPR001523	Paired domain
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	Homeobox, conserved site	Homeodomain	Paired DNA-binding domain	Paired domain	PAX family	Winged helix-like DNA-binding domain superfamily
UniProtKB:A0A8M2BGP0 InterPro	282
UniProtKB:A0A8M2BG41 InterPro	411
UniProtKB:A0A8M3B3W1 InterPro	398
UniProtKB:Q9YHZ8 InterPro	437
UniProtKB:A0A8M9Q1T3 InterPro	419
UniProtKB:A0A0R4IQL7 InterPro	450
UniProtKB:A0A8M9PP46 InterPro	432

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pax6b-201 (1) Ensembl	Ensembl	1,715 nt	Select Tool ZFIN BLAST
mRNA	pax6b-202 (1) Ensembl	Ensembl	5,548 nt	Select Tool
mRNA	pax6b-203 (1) Ensembl	Ensembl	5,844 nt	Select Tool ZFIN BLAST
mRNA	pax6b-204 (1) Ensembl	Ensembl	5,981 nt	Select Tool ZFIN BLAST
mRNA	pax6b-205 (1) Ensembl	Ensembl	5,864 nt	Select Tool ZFIN BLAST
mRNA	pax6b-206 (1) Ensembl	Ensembl	6,020 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab2-pax6	polyclonal	pax6a pax6b		Rabbit	IHC		2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations