Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	50805
Gene name	Iroquois homeobox 4
Gene symbol	IRX4
Synonyms (NCBI Gene)	IRXA3
Chromosome	5
Chromosome location	5p15.33

111

Show/Hide all (111)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024687	hsa-miR-215-5p	Microarray	19074876
MIRT026778	hsa-miR-192-5p	Microarray	19074876
MIRT1072379	hsa-miR-1279	CLIP-seq
MIRT1072380	hsa-miR-1289	CLIP-seq
MIRT1072381	hsa-miR-130a	CLIP-seq
MIRT1072382	hsa-miR-130b	CLIP-seq
MIRT1072383	hsa-miR-148a	CLIP-seq
MIRT1072384	hsa-miR-148b	CLIP-seq
MIRT1072385	hsa-miR-152	CLIP-seq
MIRT1072386	hsa-miR-1538	CLIP-seq
MIRT1072387	hsa-miR-19a	CLIP-seq
MIRT1072388	hsa-miR-19b	CLIP-seq
MIRT1072389	hsa-miR-301a	CLIP-seq
MIRT1072390	hsa-miR-301b	CLIP-seq
MIRT1072391	hsa-miR-302a	CLIP-seq
MIRT1072392	hsa-miR-302b	CLIP-seq
MIRT1072393	hsa-miR-302c	CLIP-seq
MIRT1072394	hsa-miR-302d	CLIP-seq
MIRT1072395	hsa-miR-302e	CLIP-seq
MIRT1072396	hsa-miR-30a	CLIP-seq
MIRT1072397	hsa-miR-30b	CLIP-seq
MIRT1072398	hsa-miR-30c	CLIP-seq
MIRT1072399	hsa-miR-30d	CLIP-seq
MIRT1072400	hsa-miR-30e	CLIP-seq
MIRT1072401	hsa-miR-3122	CLIP-seq
MIRT1072402	hsa-miR-3198	CLIP-seq
MIRT1072403	hsa-miR-335	CLIP-seq
MIRT1072404	hsa-miR-3666	CLIP-seq
MIRT1072405	hsa-miR-372	CLIP-seq
MIRT1072406	hsa-miR-373	CLIP-seq
MIRT1072407	hsa-miR-3913-5p	CLIP-seq
MIRT1072408	hsa-miR-4294	CLIP-seq
MIRT1072409	hsa-miR-4295	CLIP-seq
MIRT1072410	hsa-miR-4309	CLIP-seq
MIRT1072411	hsa-miR-454	CLIP-seq
MIRT1072412	hsa-miR-4696	CLIP-seq
MIRT1072413	hsa-miR-4745-3p	CLIP-seq
MIRT1072414	hsa-miR-4802-5p	CLIP-seq
MIRT1072415	hsa-miR-491-3p	CLIP-seq
MIRT1072416	hsa-miR-512-3p	CLIP-seq
MIRT1072417	hsa-miR-520a-3p	CLIP-seq
MIRT1072418	hsa-miR-520b	CLIP-seq
MIRT1072419	hsa-miR-520c-3p	CLIP-seq
MIRT1072420	hsa-miR-520d-3p	CLIP-seq
MIRT1072421	hsa-miR-520e	CLIP-seq
MIRT1072422	hsa-miR-574-5p	CLIP-seq
MIRT1072423	hsa-miR-648	CLIP-seq
MIRT1072424	hsa-miR-656	CLIP-seq
MIRT2017860	hsa-miR-922	CLIP-seq
MIRT1072379	hsa-miR-1279	CLIP-seq
MIRT1072380	hsa-miR-1289	CLIP-seq
MIRT1072381	hsa-miR-130a	CLIP-seq
MIRT1072382	hsa-miR-130b	CLIP-seq
MIRT1072383	hsa-miR-148a	CLIP-seq
MIRT1072384	hsa-miR-148b	CLIP-seq
MIRT1072385	hsa-miR-152	CLIP-seq
MIRT2249662	hsa-miR-1915	CLIP-seq
MIRT1072387	hsa-miR-19a	CLIP-seq
MIRT1072388	hsa-miR-19b	CLIP-seq
MIRT1072389	hsa-miR-301a	CLIP-seq
MIRT1072390	hsa-miR-301b	CLIP-seq
MIRT1072391	hsa-miR-302a	CLIP-seq
MIRT1072392	hsa-miR-302b	CLIP-seq
MIRT1072393	hsa-miR-302c	CLIP-seq
MIRT1072394	hsa-miR-302d	CLIP-seq
MIRT1072395	hsa-miR-302e	CLIP-seq
MIRT2249663	hsa-miR-3126-3p	CLIP-seq
MIRT2249664	hsa-miR-3127-5p	CLIP-seq
MIRT2249665	hsa-miR-3195	CLIP-seq
MIRT1072402	hsa-miR-3198	CLIP-seq
MIRT1072403	hsa-miR-335	CLIP-seq
MIRT2249666	hsa-miR-3650	CLIP-seq
MIRT1072404	hsa-miR-3666	CLIP-seq
MIRT2249667	hsa-miR-3691-3p	CLIP-seq
MIRT1072405	hsa-miR-372	CLIP-seq
MIRT1072406	hsa-miR-373	CLIP-seq
MIRT2249668	hsa-miR-3977	CLIP-seq
MIRT1072408	hsa-miR-4294	CLIP-seq
MIRT1072409	hsa-miR-4295	CLIP-seq
MIRT1072410	hsa-miR-4309	CLIP-seq
MIRT2249669	hsa-miR-4422	CLIP-seq
MIRT2249670	hsa-miR-4433	CLIP-seq
MIRT2249671	hsa-miR-4459	CLIP-seq
MIRT1072411	hsa-miR-454	CLIP-seq
MIRT2249672	hsa-miR-4690-5p	CLIP-seq
MIRT2249673	hsa-miR-4695-5p	CLIP-seq
MIRT1072412	hsa-miR-4696	CLIP-seq
MIRT2249674	hsa-miR-4707-5p	CLIP-seq
MIRT2249675	hsa-miR-4710	CLIP-seq
MIRT2249676	hsa-miR-4716-5p	CLIP-seq
MIRT2249677	hsa-miR-4726-3p	CLIP-seq
MIRT2249678	hsa-miR-4742-5p	CLIP-seq
MIRT2249679	hsa-miR-4792	CLIP-seq
MIRT1072414	hsa-miR-4802-5p	CLIP-seq
MIRT1072415	hsa-miR-491-3p	CLIP-seq
MIRT1072416	hsa-miR-512-3p	CLIP-seq
MIRT1072417	hsa-miR-520a-3p	CLIP-seq
MIRT1072418	hsa-miR-520b	CLIP-seq
MIRT1072419	hsa-miR-520c-3p	CLIP-seq
MIRT1072420	hsa-miR-520d-3p	CLIP-seq
MIRT1072421	hsa-miR-520e	CLIP-seq
MIRT1072422	hsa-miR-574-5p	CLIP-seq
MIRT1072423	hsa-miR-648	CLIP-seq
MIRT1072424	hsa-miR-656	CLIP-seq
MIRT2249680	hsa-miR-665	CLIP-seq
MIRT2249681	hsa-miR-885-3p	CLIP-seq
MIRT2249682	hsa-miR-944	CLIP-seq
MIRT2249663	hsa-miR-3126-3p	CLIP-seq
MIRT2389474	hsa-miR-3176	CLIP-seq
MIRT2389475	hsa-miR-3922-3p	CLIP-seq
MIRT2249676	hsa-miR-4716-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
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	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
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:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	TAS	10625552
GO:0030182	Process	Neuron differentiation	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048468	Process	Cell development	IBA
GO:0048561	Process	Establishment of animal organ orientation	IEA

MIM	HGNC	e!Ensembl
606199	6129	ENSG00000113430

P78413

Protein name

Iroquois-class homeodomain protein IRX-4 (Homeodomain protein IRXA3) (Iroquois homeobox protein 4)

Protein function

Likely to be an important mediator of ventricular differentiation during cardiac development.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05920	Homeobox_KN	160 → 199	Homeobox KN domain	Family

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in cardiac ventricles.

Sequence

MSYPQFGYPYSSAPQFLMATNSLSTCCESGGRTLADSGPAASAQAPVYCPVYESRLLATA
RHELNSAAALGVYGGPYGGSQGYGNYVTYGSEASAFYSLNSFDSKDGSGSAHGGLAPAAA
AYYPYEPALGQYPYDRYGTMDSGTRRKNATRETTSTLKAWLQEHRKNPYPTKGEKIMLAI
ITKMTLTQVSTWFANARRRLKKENKMTWPPRNKCADEKRPYAEGEEEEGGEEEAREEPLK
SSKNAEPVGKEEKELELSDLDDFDPLEAEPPACELKPPFHSLDGGLERVPAAPDGPVKEA
SGALRMSLAAGGGAALDEDLERARSCLRSAAAGPEPLPGAEGGPQVCEAKLGFVPAGASA
GLEAKPRIWSLAHTATAAAAAATSLSQTEFPSCMLKRQGPAAPAAVSSAPATSPSVALPH
SGALDRHQDSPVTSLRNWVDGVFHDPILRHSTLNQAWATAKGALLDPGPLGRSLGAGANV
LTAPLARAFPPAVPQDAPAAGAARELLALPKAGGKPFCA

Sequence length

519

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ventricular septal defect 1	Pathogenic	rs1291177151, rs2477369177	RCV003318483 RCV003318484	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CARCINOMA, ADENOID CYSTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	23620269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32894817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	21544582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21779381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21779381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	21779381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	21544582		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	21544582, 28336264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	21779381	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28336264	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	36721086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	33539429	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy retinal 1 North Carolina type	Macular dystrophy	Pubtator	27496188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22323358, 24022300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22323358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32894817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	32894817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22323358, 24022300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24022300, 33919200, 37612286, 39759507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	BEFREE	21544582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	GENOMICS_ENGLAND_DG	21544582		★★★★★ ★☆☆☆☆ Found in Text Mining only

IRX4 (iroquois homeobox 4)