Version 5.4
Homo sapiens Gene: HMX2
Summary
InnateDB Gene IDBG-92471.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HMX2
Gene Name H6 family homeobox 2
Synonyms H6L; Nkx5-2
Species Homo sapiens
Ensembl Gene ENSG00000188816
Encoded Proteins
IDBP-92473
H6 family homeobox 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:123148122-123150672
Strand Forward strand
Band q26.13
Transcripts
ENST00000339992 ENSP00000341108
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007420 brain development
GO:0008284 positive regulation of cell proliferation
GO:0030154 cell differentiation
GO:0042472 inner ear morphogenesis
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000050100
View Gene Order
ENSBTAG00000017911
Not yet available
Cross-References
SwissProt A2RU54
TrEMBL
UniProt Splice Variant
Entrez Gene 3167
UniGene Hs.444756
RefSeq NM_005519 XM_005269743
HUGO HGNC:5018
OMIM 600647
CCDS CCDS31305
HPRD
IMGT
EMBL BC132758 BC137139 CH471066
GenPept AAI32759 AAI37140 EAW49288
RNA Seq Atlas 3167

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca