IRX5

Chr 16

iroquois homeobox 5

Also known as: HMMS, IRX-2a, IRXB2

NCBI Gene: 10265 ENSG00000176842 UniProt: P78411

IRX5 encodes a transcription factor that establishes cardiac repolarization gradients by repressing potassium channel gene expression, promotes retinal cone bipolar cell differentiation, and regulates craniofacial and gonadal development through control of cell migration. Loss-of-function mutations cause Hamamy syndrome, an autosomal recessive disorder. The gene is highly intolerant to loss-of-function variants, supporting haploinsufficiency as the pathogenic mechanism.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHamamy syndrome

Clinical highlights

Gene-disease validity (ClinGen)

craniofacial dysplasia - osteopenia syndrome · ARModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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