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Aliases for IRX5 Gene

Aliases for IRX5 Gene

  • Iroquois Homeobox 5 2 3 5
  • Homeodomain Protein IRX-2A 3 4
  • Homeodomain Protein IRXB2 3 4
  • IRXB2 3 4
  • Iroquois-Class Homeodomain Protein IRX-5 3
  • Iroquois Homeobox Protein 5 4
  • IRX-2a 3
  • IRX2A 4
  • HMMS 3

External Ids for IRX5 Gene

Previous GeneCards Identifiers for IRX5 Gene

  • GC16P045380
  • GC16P055020
  • GC16P054703
  • GC16P054744
  • GC16P054743
  • GC16P053522
  • GC16P040851

Summaries for IRX5 Gene

Entrez Gene Summary for IRX5 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 negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for IRX5 Gene

IRX5 (Iroquois Homeobox 5) is a Protein Coding gene. Diseases associated with IRX5 include Hamamy Syndrome and Griscelli Syndrome, Type 3. Among its related pathways are FTO Obesity Variant Mechanism and Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and vitamin D binding. An important paralog of this gene is IRX2.

UniProtKB/Swiss-Prot for IRX5 Gene

  • 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 visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12.

Gene Wiki entry for IRX5 Gene

Additional gene information for IRX5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRX5 Gene

Genomics for IRX5 Gene

GeneHancer (GH) Regulatory Elements for IRX5 Gene

Promoters and enhancers for IRX5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I054926 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.7 1690 12.9 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 POLR2B ZNF143 KLF13 ZNF263 IRX5 IRX3 CRNDE ENSG00000259711 ENSG00000259725
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IRX5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IRX5 gene promoter:

Genomic Locations for IRX5 Gene

Genomic Locations for IRX5 Gene
chr16:54,930,862-54,934,485
(GRCh38/hg38)
Size:
3,624 bases
Orientation:
Plus strand
chr16:54,964,774-54,968,397
(GRCh37/hg19)

Genomic View for IRX5 Gene

Genes around IRX5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRX5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRX5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRX5 Gene

Proteins for IRX5 Gene

  • Protein details for IRX5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78411-IRX5_HUMAN
    Recommended name:
    Iroquois-class homeodomain protein IRX-5
    Protein Accession:
    P78411
    Secondary Accessions:
    • H0YMS7
    • P78416
    • Q7Z2E1

    Protein attributes for IRX5 Gene

    Size:
    483 amino acids
    Molecular mass:
    50361 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for IRX5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IRX5 Gene

Post-translational modifications for IRX5 Gene

No Post-translational modifications

Other Protein References for IRX5 Gene

No data available for DME Specific Peptides for IRX5 Gene

Domains & Families for IRX5 Gene

Gene Families for IRX5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for IRX5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78411

UniProtKB/Swiss-Prot:

IRX5_HUMAN :
  • Belongs to the TALE/IRO homeobox family.
Family:
  • Belongs to the TALE/IRO homeobox family.
genes like me logo Genes that share domains with IRX5: view

Function for IRX5 Gene

Molecular function for IRX5 Gene

UniProtKB/Swiss-Prot 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 visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12.
UniProtKB/Swiss-Prot Induction:
Down-regulated by 1,25-dihydroxyvitamin D3 in prostate cancer samples from patients assigned to receive weekly high-dose 1,25-dihydroxyvitamin D3 before radical prostatectomy. Also down-regulated by 1,25-dihydroxyvitamin D3 in the human androgen-sensitive prostate cancer cell line LNCaP and in the estrogen-sensitive breast cancer cell line MCF-7.

Phenotypes From GWAS Catalog for IRX5 Gene

Gene Ontology (GO) - Molecular Function for IRX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005499 vitamin D binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with IRX5: view
genes like me logo Genes that share phenotypes with IRX5: view

Human Phenotype Ontology for IRX5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for IRX5 Gene

miRTarBase miRNAs that target IRX5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for IRX5 Gene

Localization for IRX5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRX5 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRX5 gene
Compartment Confidence
nucleus 5
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IRX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with IRX5: view

Pathways & Interactions for IRX5 Gene

genes like me logo Genes that share pathways with IRX5: view

Pathways by source for IRX5 Gene

2 BioSystems pathways for IRX5 Gene

Gene Ontology (GO) - Biological Process for IRX5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007601 visual perception IEA --
GO:0008406 gonad development IMP 22581230
genes like me logo Genes that share ontologies with IRX5: view

No data available for SIGNOR curated interactions for IRX5 Gene

Drugs & Compounds for IRX5 Gene

No Compound Related Data Available

Transcripts for IRX5 Gene

Unigene Clusters for IRX5 Gene

Iroquois homeobox 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IRX5 Gene

No ASD Table

Relevant External Links for IRX5 Gene

GeneLoc Exon Structure for
IRX5
ECgene alternative splicing isoforms for
IRX5

Expression for IRX5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IRX5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IRX5 Gene

This gene is overexpressed in Breast - Mammary Tissue (x7.3), Skin - Not Sun Exposed (Suprapubic) (x7.1), Skin - Sun Exposed (Lower leg) (x5.9), and Minor Salivary Gland (x4.7).

Protein differential expression in normal tissues from HIPED for IRX5 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for IRX5 Gene



Protein tissue co-expression partners for IRX5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IRX5 Gene:

IRX5

SOURCE GeneReport for Unigene cluster for IRX5 Gene:

Hs.435730

Evidence on tissue expression from TISSUES for IRX5 Gene

  • Heart(2.3)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IRX5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IRX5: view

No data available for mRNA Expression by UniProt/SwissProt for IRX5 Gene

Orthologs for IRX5 Gene

This gene was present in the common ancestor of animals.

Orthologs for IRX5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IRX5 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IRX5 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IRX5 34
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Irx5 34
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IRX5 34
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 79 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia irx5-A 33
zebrafish
(Danio rerio)
Actinopterygii irx5a 34
  • 66 (a)
OneToOne
iro5 33
fruit fly
(Drosophila melanogaster)
Insecta mirr 35 34
  • 77 (a)
caup 35
  • 71 (a)
ara 35
  • 62 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToMany
Species where no ortholog for IRX5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IRX5 Gene

ENSEMBL:
Gene Tree for IRX5 (if available)
TreeFam:
Gene Tree for IRX5 (if available)

Paralogs for IRX5 Gene

Paralogs for IRX5 Gene

(2) SIMAP similar genes for IRX5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with IRX5: view

Variants for IRX5 Gene

Sequence variations from dbSNP and Humsavar for IRX5 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1057518725 pathogenic, Hamamy syndrome 54,933,783(+) TAAAGAC/GT coding_sequence_variant, frameshift
rs387907198 pathogenic, Hamamy syndrome, Hamamy syndrome (HMMS) [MIM:611174] 54,932,696(+) G/C coding_sequence_variant, missense_variant
rs776389982 uncertain-significance, Hamamy syndrome 54,931,435(+) CTCCTC/CTC coding_sequence_variant, genic_upstream_transcript_variant, inframe_deletion, upstream_transcript_variant
rs786200931 pathogenic, Hamamy syndrome, Hamamy syndrome (HMMS) [MIM:611174] 54,932,746(+) C/A coding_sequence_variant, missense_variant
rs1001195200 -- 54,929,479(+) A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for IRX5 Gene

Variant ID Type Subtype PubMed ID
nsv827657 CNV gain 20364138
nsv1131115 CNV deletion 24896259
dgv476n67 CNV gain 20364138

Variation tolerance for IRX5 Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.51; 82.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IRX5 Gene

Human Gene Mutation Database (HGMD)
IRX5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRX5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRX5 Gene

Disorders for IRX5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IRX5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hamamy syndrome
  • hmms
griscelli syndrome, type 3
  • gs3
- elite association - COSMIC cancer census association via MalaCards
Search IRX5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IRX5_HUMAN
  • Hamamy syndrome (HMMS) [MIM:611174]: A syndrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies and borderline intelligence. {ECO:0000269 PubMed:22581230}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IRX5

genes like me logo Genes that share disorders with IRX5: view

No data available for Genatlas for IRX5 Gene

Publications for IRX5 Gene

  1. The iroquois homeobox gene 5 is regulated by 1,25-dihydroxyvitamin D3 in human prostate cancer and regulates apoptosis and the cell cycle in LNCaP prostate cancer cells. (PMID: 18519790) Myrthue A … Beer TM (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 4 22 58
  2. Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. (PMID: 22581230) Bonnard C … Reversade B (Nature genetics 2012) 3 4 58
  3. Regulated expression patterns of IRX-2, an Iroquois-class homeobox gene, in the human breast. (PMID: 10370142) Lewis MT … Daniel CW (Cell and tissue research 1999) 3 4 58
  4. Complete re-sequencing of a 2Mb topological domain encompassing the FTO/IRXB genes identifies a novel obesity-associated region upstream of IRX5. (PMID: 26642925) Hunt LE … Elgar G (Genome medicine 2015) 3 58
  5. Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. (PMID: 24564958) St Pourcain B … Smith GD (Molecular autism 2014) 3 58

Products for IRX5 Gene

Sources for IRX5 Gene

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