IRX5 (iroquois homeobox 5)

Gene

• Entrez ID: 10265
• Gene name: Iroquois homeobox 5
• Gene symbol: IRX5
• Synonyms (NCBI Gene): HMMS, IRX-2a, IRXB2
• Chromosome: 16
• Chromosome location: 16q12.2
• 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 negativel

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907198	G>C	Pathogenic	Missense variant, coding sequence variant
rs786200931	C>A	Pathogenic	Coding sequence variant, missense variant
rs1057518725	TAAAGAC>GT	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1072425	hsa-miR-1275	CLIP-seq
MIRT1072426	hsa-miR-3120-5p	CLIP-seq
MIRT1072427	hsa-miR-33a	CLIP-seq
MIRT1072428	hsa-miR-33b	CLIP-seq
MIRT1072429	hsa-miR-3615	CLIP-seq
MIRT1072430	hsa-miR-3682-5p	CLIP-seq
MIRT1072431	hsa-miR-4260	CLIP-seq
MIRT1072432	hsa-miR-4261	CLIP-seq
MIRT1072433	hsa-miR-4328	CLIP-seq
MIRT1072434	hsa-miR-450b-5p	CLIP-seq
MIRT1072435	hsa-miR-4525	CLIP-seq
MIRT1072436	hsa-miR-4665-5p	CLIP-seq
MIRT1072437	hsa-miR-4699-3p	CLIP-seq
MIRT1072438	hsa-miR-4719	CLIP-seq
MIRT1072439	hsa-miR-4723-5p	CLIP-seq
MIRT1072440	hsa-miR-4768-5p	CLIP-seq
MIRT1072441	hsa-miR-494	CLIP-seq
MIRT1072442	hsa-miR-507	CLIP-seq
MIRT1072443	hsa-miR-557	CLIP-seq
MIRT1072444	hsa-miR-593	CLIP-seq
MIRT1072445	hsa-miR-625	CLIP-seq
MIRT1072426	hsa-miR-3120-5p	CLIP-seq
MIRT1072429	hsa-miR-3615	CLIP-seq
MIRT2017861	hsa-miR-4307	CLIP-seq
MIRT2017862	hsa-miR-4716-5p	CLIP-seq
MIRT1072440	hsa-miR-4768-5p	CLIP-seq
MIRT1072444	hsa-miR-593	CLIP-seq
MIRT2249683	hsa-miR-3617	CLIP-seq
MIRT2249684	hsa-miR-641	CLIP-seq
MIRT1072432	hsa-miR-4261	CLIP-seq
MIRT1072438	hsa-miR-4719	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005499	Function	Vitamin D binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008406	Process	Gonad development	IMP	22581230
GO:0010468	Process	Regulation of gene expression	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0042551	Process	Neuron maturation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0048468	Process	Cell development	IBA
GO:0048468	Process	Cell development	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IMP	22581230
GO:0060040	Process	Retinal bipolar neuron differentiation	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 606195
• HGNC: 14361
• e!Ensembl: ENSG00000176842

Protein

• UniProt ID: P78411
• Protein name: Iroquois-class homeodomain protein IRX-5 (Homeodomain protein IRX-2A) (Homeodomain protein IRXB2) (Iroquois homeobox protein 5)
• Protein function: 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05920	Homeobox_KN	131 → 170	Homeobox KN domain	Family

• Sequence:

  MSYPQGYLYQPSASLALYSCPAYSTSVISGPRTDELGRSSSGSAFSPYAGSTAFTAPSPG
  YNSHLQYGADPAAAAAAAFSSYVGSPYDHTPGMAGSLGYHPYAAPLGSYPYGDPAYRKNA
  TRDATATLKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWT
  PRNRSEDEEEEENIDLEKNDEDEPQKPEDKGDPEGPEAGGAEQKAASGCERLQGPPTPAG
  KETEGSLSDSDFKEPPSEGRLDALQGPPRTGGPSPAGPAAARLAEDPAPHYPAGAPAPGP
  HPAAGEVPPGPGGPSVIHSPPPPPPPAVLAKPKLWSLAEIATSSDKVKDGGGGNEGSPCP
  PCPGPIAGQALGGSRASPAPAPSRSPSAQCPFPGGTVLSRPLYYTAPFYPGYTNYGSFGH
  LHGHPGPGPGPTTGPGSHFNGLNQTVLNRADALAKDPKMLRSQSQLDLCKDSPYELKKGM
  SDI

• Sequence length: 483

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Craniofacial dysplasia - osteopenia syndrome	Pathogenic	rs2142353982, rs1057518725, rs786200931, rs387907198	RCV002264840 RCV000415174 RCV000024601 RCV000024602	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANEMIA, HYPOCHROMIC MICROCYTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANODONTIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL ABSENCE OF TOOTH	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM-OCULAR ANOMALIES-OSTEOPENIA-INTELLECTUAL DISABILITY-DENTAL ANOMALIES SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTONASAL DYSPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRX5-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30031117		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18519790		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31432570		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28550688	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	22581230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniofacial dysplasia-osteopenia syndrome	Craniofacial Dysplasia-Osteopenia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental absence of tooth	Anodontia	CTD_human_DG	22581230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Excessive tearing	Excessive Tearing	CTD_human_DG	22581230		★☆☆☆☆ Found in Text Mining only
Frontonasal dysplasia	Frontonasal Dysplasia	CTD_human_DG	22581230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility	Hypertelorism With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility	ORPHANET_DG	22581230		★☆☆☆☆ Found in Text Mining only
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility	Hypertelorism With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility	GENOMICS_ENGLAND_DG	22581230		★☆☆☆☆ Found in Text Mining only
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility	Hypertelorism With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility	UNIPROT_DG	22581230		★☆☆☆☆ Found in Text Mining only
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility	Hypertelorism With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility	Hypertelorism With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypochromic anemia	Hypochromic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	CTD_human_DG	22581230		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lacrimal Apparatus Diseases	Lacrimal Apparatus Diseases	CTD_human_DG	22581230		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35328612	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30423553		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	CTD_human_DG	21238641		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18519790		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18519790		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	37019912	Associate	★☆☆☆☆ Found in Text Mining only
Microcytic hypochromic anemia (disorder)	Anemia	CTD_human_DG	22581230		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CTD_human_DG	22581230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18519790, 30031117, 30285995		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	30246301		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30031117		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26642925	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30538277		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18519790		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18519790		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26890304	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	31015532		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	28041643		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31015532		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CTD_human_DG	22581230		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory hearing loss	Hearing Loss	CTD_human_DG	22581230		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29761910		★☆☆☆☆ Found in Text Mining only
Tooth Agenesis, Familial	Tooth Agenesis	CTD_human_DG	22581230		★☆☆☆☆ Found in Text Mining only