IRX5 gene

iroquois homeobox 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

From UniProt:

Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12.

From NCBI Gene:

  • Hamamy syndrome

From UniProt:

Hamamy syndrome (HMMS): A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence. [MIM:611174]

Cytogenetic Location: 16q12.2, which is the long (q) arm of chromosome 16 at position 12.2

Molecular Location: base pairs 54,931,199 to 54,934,485 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q12.2, which is the long (q) arm of chromosome 16 at position 12.2
  • HMMS
  • IRX-2a
  • IRXB2