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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HMMS
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(14)

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	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0005499	Function	Vitamin D binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007601	Process	Visual perception	IEA
GO:0008406	Process	Gonad development	IMP	22581230
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0048468	Process	Cell development	IBA	21873635
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IMP	22581230
GO:0050896	Process	Response to stimulus	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 (10)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Iron-Refractory Iron Deficiency Anemia, Microcytic hypochromic anemia (disorder)	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)	22581230
Congenital heart defects	Congenital Heart Defects	rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321 View all (13 more)	22581230
Craniofacial dysplasia-osteopenia syndrome	Craniofacial dysplasia-osteopenia syndrome	rs786200931, rs387907198, rs1057518725
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental regression	Developmental regression	rs1224421127
Hearing loss	Sensorineural Hearing Loss (disorder), Sensory hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)	22581230
Hypoparathyroidism	Hypoparathyroidism	rs104893959, rs104894271, rs2134093224, rs104894272, rs6256, rs193922430, rs886037646, rs1554103179
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)	22581230
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114 View all (1830 more)	28041643
Tooth agenesis	Tooth Agenesis, Familial	rs121908119, rs121908121, rs1881345182, rs104894467, rs28933970, rs2139108031, rs28933971, rs28933972, rs1594475481, rs2139106532, rs2139108874, rs121917720, rs121913129, rs104893852, rs104893850 View all (22 more)	22581230

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Osteopenia	craniofacial dysplasia - osteopenia syndrome	GenCC
Hyperopia	Hyperopia	GWAS
Otosclerosis	Otosclerosis	GWAS

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining
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)