ZFIN is now using GRCz12tu for Genomic Data

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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Enables DNA-binding transcription factor activity, RNA polymerase II-specific. Acts upstream of or within several processes, including brain development; camera-type eye development; and enteroendocrine cell differentiation. Predicted to be located in nucleus. Is expressed in several structures, including anterior neural keel; endocrine system; immature eye; nervous system; and neural plate. 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

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

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	Additional Resources	Length
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

ZFIN

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 ZFIN BLAST
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

Genome Browsers

NCBI Map Viewer

ZFIN

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations