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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10265
Gene name Gene Name - the full gene name approved by the HGNC.	Iroquois homeobox 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IRX5
Synonyms (NCBI Gene) Gene synonyms aliases	HMMS, IRX-2a, IRXB2
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q12.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(3)

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

Show/Hide all(31)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(25)

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

MIM	HGNC	e!Ensembl
606195	14361	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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Craniofacial Dysplasia-Osteopenia Syndrome	Craniofacial dysplasia - osteopenia syndrome	rs786200931, rs387907198, rs1057518725	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
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.
Hyperopia	Hyperopia	N/A	N/A	GWAS
Otosclerosis	Otosclerosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Colorectal Neoplasms	Associate	28550688
Leukemia Myeloid Acute	Associate	35328612
Metabolic Diseases	Associate	37019912
Neoplasms	Associate	36057880
Obesity	Associate	26642925
Prostatic Neoplasms	Associate	26890304

IRX5 (iroquois homeobox 5)