Gene Gene information from NCBI Gene database.
Entrez ID 50805
Gene name Iroquois homeobox 4
Gene symbol IRX4
Synonyms (NCBI Gene)
IRXA3
Chromosome 5
Chromosome location 5p15.33
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606199 6129 ENSG00000113430
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
ITKMTLTQVSTWFANARRR
LKKENKMTWPPRNKCADEKRPYAEGEEEEGGEEEAREEPLK
SSKNAEPVGKEEKELELSDLDDFDPLEAEPPACELKPPFHSLDGGLERVPAAPDGPVKEA
SGALRMSLAAGGGAALDEDLERARSCLRSAAAGPEPLPGAEGGPQVCEAKLGFVPAGASA
GLEAKPRIWSLAHTATAAAAAATSLSQTEFPSCMLKRQGPAAPAAVSSAPATSPSVALPH
SGALDRHQDSPVTSLRNWVDGVFHDPILRHSTLNQAWATAKGALLDPGPLGRSLGAGANV
LTAPLARAFPPAVPQDAPAAGAARELLALPKAGGKPFCA
Sequence length 519
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
See cases Pathogenic rs567556846 RCV004555933
Ventricular septal defect 1 Pathogenic rs1291177151, rs2477369177 RCV003318483
RCV003318484
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Tetralogy of Fallot Uncertain significance rs1175075312 RCV000626793
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Pancreatic Ductal Associate 32894817
Cardiovascular Diseases Associate 21779381
Cerebral Infarction Associate 21779381
Epilepsy Associate 21779381
Heart Defects Congenital Associate 28336264
Heart Diseases Associate 36721086
Hodgkin Disease Stimulate 33539429
Macular dystrophy retinal 1 North Carolina type Associate 27496188
Neoplasms Associate 32894817
Neoplasms Inhibit 33919200