Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
50805
Gene name Gene Name - the full gene name approved by the HGNC.
Iroquois homeobox 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRX4
Synonyms (NCBI Gene) Gene synonyms aliases
IRXA3
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p15.33
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606199 6129 ENSG00000113430
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Heart Disease congenital heart disease N/A N/A GenCC
Tetralogy of Fallot tetralogy of fallot N/A N/A ClinVar
Ventricular septal defect ventricular septal defect 1 N/A N/A GenCC
Associations from Text Mining Disease 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