IRX2 iroquois homeobox 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IRX2provided by HGNC
Official Full Name: iroquois homeobox 2provided by HGNC
Primary source: HGNC:HGNC:14359
See related: Ensembl:ENSG00000170561 MIM:606198; AllianceGenome:HGNC:14359
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IRXA2
Summary: IRX2 is a member of the Iroquois homeobox gene family. Members of this family appear to play multiple roles during pattern formation of vertebrate embryos.[supplied by OMIM, Apr 2004]
Expression: Biased expression in lung (RPKM 4.6), skin (RPKM 2.8) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.33

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (2735635..2751677, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (2651419..2666690, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (2745959..2751791, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Iroquois Homeobox Protein 2 Identified as a Potential Biomarker for Parkinson's Disease.
Title: Iroquois Homeobox Protein 2 Identified as a Potential Biomarker for Parkinson's Disease.
IRX2 transcription factor might represent a novel metastasis associated protein that acts as a negative regulator of cellular motility and as a repressor of chemokine expression and loss of IRX2 expression could therefore contribute to early hematogenous dissemination of breast cancer by sustaining chemokine secretion and enabling mobilization of tumor cells.
Title: Iroquois homeobox 2 suppresses cellular motility and chemokine expression in breast cancer cells.
IRX2 modulates the expression levels of MMP2 and VEGF in an AKTdependent manner.
Title: IRX2-mediated upregulation of MMP-9 and VEGF in a PI3K/AKT-dependent manner.
The mechanism by which IRX2 promoted cell proliferation and invasion by activating AKT and MMP9 was detected.
Title: Knockdown of IRX2 inhibits osteosarcoma cell proliferation and invasion by the AKT/MMP9 signaling pathway.
Results revealed 3 genes highly predictive of event-free survival (EFS), beyond age and MLL status: FLT3, IRX2, and TACC2.
Title: Gene expression profiles predictive of outcome and age in infant acute lymphoblastic leukemia: a Children's Oncology Group study.
Observational study of gene-disease association. (HuGE Navigator)
Title: A genome-wide scan maps a novel high myopia locus to 5p15.
IRX2 represents a candidate target of 5p amplifications in soft tissue sarcomas and might play a crucial role during the progression of this disease.
Title: Frequent amplifications and abundant expression of TRIO, NKD2, and IRX2 in soft tissue sarcomas.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of selenium concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

IRX2_2363 (e-PCR)
- UniSTS:280788

C5orf38 (e-PCR)
- UniSTS:505825

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proximal/distal pattern formation involved in metanephric nephron development	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in specification of loop of Henle identity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: iroquois-class homeodomain protein IRX-2

Names: homeodomain protein IRXA2; iroquois homeobox protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001134222.2 → NP_001127694.1 iroquois-class homeodomain protein IRX-2

See identical proteins and their annotated locations for NP_001127694.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1.

Source sequence(s)

AC091891, AY335940, BC065189, BM969863

Consensus CDS

CCDS3868.1

UniProtKB/Swiss-Prot

Q68A19, Q7Z2I7, Q9BZI1

Related

ENSP00000372056.6, ENST00000382611.10

Conserved Domains (2) summary

smart00548
Location:322 → 339

IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function

pfam05920
Location:132 → 171

Homeobox_KN; Homeobox KN domain
NM_033267.5 → NP_150366.1 iroquois-class homeodomain protein IRX-2

See identical proteins and their annotated locations for NP_150366.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript.

Source sequence(s)

AB188492, AC091891, AI131378, AI928035, AY335940, BC065189, BM969863

Consensus CDS

CCDS3868.1

UniProtKB/Swiss-Prot

Q68A19, Q7Z2I7, Q9BZI1

Related

ENSP00000307006.5, ENST00000302057.6

Conserved Domains (2) summary

smart00548
Location:322 → 339

IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function

pfam05920
Location:132 → 171

Homeobox_KN; Homeobox KN domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

2735635..2751677 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011513979.3 → XP_011512281.1 iroquois-class homeodomain protein IRX-2 isoform X1

See identical proteins and their annotated locations for XP_011512281.1

UniProtKB/Swiss-Prot

Q68A19, Q7Z2I7, Q9BZI1

Conserved Domains (2) summary

smart00548
Location:322 → 339

IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function

pfam05920
Location:132 → 171

Homeobox_KN; Homeobox KN domain
XM_024454379.2 → XP_024310147.1 iroquois-class homeodomain protein IRX-2 isoform X2

Conserved Domains (3) summary

smart00548
Location:229 → 246

IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function

pfam05920
Location:39 → 78

Homeobox_KN; Homeobox KN domain

cl26464
Location:185 → 364

Atrophin-1; Atrophin-1 family