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IRX2 iroquois homeobox 2 [ Homo sapiens (human) ]

Gene ID: 153572, updated on 12-Aug-2018

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; Vega:OTTHUMG00000090377
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

Genomic context

See IRX2 in Genome Data Viewer
Location:
5p15.33
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (2707930..2751655, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (2746279..2751769, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506858 Neighboring gene uncharacterized LOC107986398 Neighboring gene long stress-induced non-coding transcript 5 Neighboring gene 3-hydroxyisobutyryl-Coenzyme A hydrolase pseudogene Neighboring gene chromosome 5 open reading frame 38

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of selenium concentrations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
iroquois-class homeodomain protein IRX-2
Names
homeodomain protein IRXA2
iroquois homeobox protein 2

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001134222.1NP_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)
    AY335940, BC065189, BM969863
    Consensus CDS
    CCDS3868.1
    UniProtKB/Swiss-Prot
    Q9BZI1
    Related
    ENSP00000372056.6, OTTHUMP00000115435, ENST00000382611.10, OTTHUMT00000206749
    Conserved Domains (2) summary
    smart00548
    Location:322339
    IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
    pfam05920
    Location:132171
    Homeobox_KN; Homeobox KN domain
  2. NM_033267.4NP_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, AI131378, AI928035, AY335940, BC065189, BM969863
    Consensus CDS
    CCDS3868.1
    UniProtKB/Swiss-Prot
    Q9BZI1
    Related
    ENSP00000307006.5, OTTHUMP00000220684, ENST00000302057.5, OTTHUMT00000365962
    Conserved Domains (2) summary
    smart00548
    Location:322339
    IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
    pfam05920
    Location:132171
    Homeobox_KN; Homeobox KN domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    2707930..2751655 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011512281.1

    UniProtKB/Swiss-Prot
    Q9BZI1
    Conserved Domains (2) summary
    smart00548
    Location:322339
    IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
    pfam05920
    Location:132171
    Homeobox_KN; Homeobox KN domain
  2. XM_024454379.1XP_024310147.1  iroquois-class homeodomain protein IRX-2 isoform X2

    Conserved Domains (3) summary
    smart00548
    Location:229246
    IRO; Motif in Iroquois-class homeodomain proteins (only). Unknown function
    pfam05920
    Location:3978
    Homeobox_KN; Homeobox KN domain
    cl26464
    Location:185364
    Atrophin-1; Atrophin-1 family

RNA

  1. XR_001742016.1 RNA Sequence

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