Aliases for HMX2 Gene
External Ids for HMX2 Gene
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]
GeneCards Summary for HMX2 Gene
HMX2 (H6 Family Homeobox 2) is a Protein Coding gene. Diseases associated with HMX2 include split hand and split foot. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NKX2-5.
UniProtKB/Swiss-Prot for HMX2 Gene
Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.