IRX5 - iroquois homeobox 5 Gene

Homo sapiens

Also known as HMMS; IRXB2; IRX-2a

Gene ID: 10265 | Gene type: protein coding

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	Reference	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06924	IRX5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.