IRX5 - iroquois homeobox 5 Gene

Also Known as HMMS; IRXB2; IRX-2a

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10265

About IRX5

Cytogenetic location: 16q12.2 Genomic coordinates (GRCh38): 16:54,930,865-54,934,485 (from NCBI)

This gene has 4 transcripts (splice variants), 260 orthologues, 6 paralogues and is associated with 3 phenotypes. Biased expression in lung (RPKM 4.8), skin (RPKM 3.3) and 10 other tissues.

Summary

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]

IRX5 Products (2)

mRNA Protein Name
NM_001252197.1 NP_001239126.1 iroquois-class homeodomain protein IRX-5 isoform 2
NM_005853.6 NP_005844.4 iroquois-class homeodomain protein IRX-5 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence References Source
involved in embryonic cranial skeleton morphogenesis IMP
IMP: Inferred from mutant phenotype
22581230 GOA
involved in gonad development IMP
IMP: Inferred from mutant phenotype
22581230 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IRX5 Protein Structure

Homeobox_KN

Homeobox_KN: Homeobox KN domain (131 - 170)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 483 a.a.
Protein Preferred Names Protein Names

iroquois-class homeodomain protein IRX-5

  • homeodomain protein IRX-2A

Related Diseases

Diseases Alias
Hamamy Syndrome

  • HMMS

  • Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility

  • Facial Dysmorphism-Ocular Anomalies-Osteopenia-Intellectual Disability-Dental Anomalies Syndrome
Cone Dystrophy

  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3
Hypertelorism

  • Eyes Wide Apart

  • Eyes Widely Set

  • Hypertelorism Of Orbit

  • Ocular Hypertelorism

  • Orbital Separation Excessive
Prostate Cancer

  • Prostate Carcinoma

  • Prostate Cancer, Familial

  • Prostate Neoplasm

  • Prostate Cancer, Somatic

  • Prostate Cancer, Susceptibility To

  • Prostatic Cancer

  • Prostatic Neoplasms

  • Hereditary Prostate Cancer

  • Prostatic Neoplasm

  • Cancer Of Prostate

  • Carcinoma Of Prostate

  • Familial Prostate Cancer

  • Familial Prostate Carcinoma

  • Malignant Tumor Of Prostate

  • Malignant Neoplasm Of Prostate

  • Prostate Cancer, Familial, Susceptibility To

  • Malignant Tumor Of The Prostate

  • Ngp - New Growth Of Prostate

  • Tumor Of The Prostate

  • Prostate Cancer, Hereditary

  • Cancer Of The Prostate

  • Malignant Neoplasm Of The Prostate

  • Prostatic Carcinoma

  • PC

  • Prca

  • Cancer, Prostate

  • Malignant Prostatic Tumour

  • Malignant Tumour Of Prostate

  • Primary Prostate Cancer

  • Primary Malignant Neoplasm Of Prostate

  • Prostate Gland Cancer
Sensorineural Hearing Loss

  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06920 IRX1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS06924 IRX5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus IRX5 VGNC VGNC:30289
Canis familiaris IRX5 VGNC VGNC:52139
Macaca mulatta IRX5 VGNC VGNC:73593
Rattus norvegicus IRX5 RGD RGD:1565518
Mus musculus IRX5 MGD MGI:1859086
Others IRX5 NCBI