InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HOXA2

Summary

InnateDB Protein

IDBP-10337.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HOXA2

Protein Name

homeobox A2

Synonyms

HOX1K; MCOHI;

Species

Homo sapiens

Ensembl Protein

ENSP00000222718

InnateDB Gene

IDBG-10335 (HOXA2)

Protein Structure

UniProt Annotation

Function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Subcellular Localization

Nucleus.

Disease Associations

Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290]: A disease characterized by microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. {ECO:0000269PubMed:18394579}. Note=The disease is caused by mutations affecting the gene represented in this entry.Microtia with or without hearing impairment (MCRT) [MIM:612290]: Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well- formed lobule. {ECO:0000269PubMed:23775976}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	8 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	14 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001709	cell fate determination
GO:0002076	osteoblast development
GO:0006351	transcription, DNA-templated
GO:0007379	segment specification
GO:0007389	pattern specification process
GO:0008045	motor neuron axon guidance
GO:0009952	anterior/posterior pattern specification
GO:0009953	dorsal/ventral pattern formation
GO:0021568	rhombomere 2 development
GO:0021569	rhombomere 3 development
GO:0021658	rhombomere 3 morphogenesis
GO:0035284	brain segmentation
GO:0042474	middle ear morphogenesis
GO:0045165	cell fate commitment
GO:0045665	negative regulation of neuron differentiation
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048703	embryonic viscerocranium morphogenesis
GO:0048704	embryonic skeletal system morphogenesis