Gene

six3a

ID

ZDB-GENE-990415-127

Name

SIX homeobox 3a

Symbol

six3a Nomenclature History

Previous Names

six3.1
six3 (1)
etID309945.13 (1)
etID46760.13 (1)
wu:fa01b08
wu:fc10a08 (1)

Type

protein_coding_gene

Location

Chr: 13 Mapping Details/Browsers

Description

Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in brain development and optic nerve morphogenesis. Predicted to localize to nucleus and transcription regulator complex. Is expressed in several structures, including anterior neural keel; nervous system; neural plate; optic vesicle; and presumptive telencephalon. Human ortholog(s) of this gene implicated in holoprosencephaly and holoprosencephaly 2. Orthologous to human SIX3 (SIX homeobox 3).

Genome Resources

Note

None

Expression

All Expression Data

44 figures from 39 publications

Cross-Species Comparison

High Throughput Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With six3a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
holoprosencephaly 2	Alliance	Holoprosencephaly 2	157170
		Schizencephaly	269160

Associated With six3a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001356	Homeobox domain
Domain	IPR031701	Homeobox protein SIX1, N-terminal SD domain
Family	IPR032949	Homeobox protein SIX3/SIX6
Homologous_superfamily	IPR009057	Homeobox-like domain superfamily