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IRX6 iroquois homeobox 6 [ Homo sapiens (human) ]

Gene ID: 79190, updated on 8-Dec-2022

Summary

Official Symbol
IRX6provided by HGNC
Official Full Name
iroquois homeobox 6provided by HGNC
Primary source
HGNC:HGNC:14675
See related
Ensembl:ENSG00000159387 MIM:606196; AllianceGenome:HGNC:14675
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
IRX7; IRX-3; IRXB3
Summary
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell development; neuron differentiation; and regulation of transcription, DNA-templated. Predicted to act upstream of or within detection of visible light; negative regulation of transcription, DNA-templated; and retina morphogenesis in camera-type eye. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in fat (RPKM 7.9), heart (RPKM 3.1) and 5 other tissues See more
Orthologs
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Genomic context

See IRX6 in Genome Data Viewer
Location:
16q12.2
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (55324203..55330756)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (61122362..61128939)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (55358115..55364668)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 841, pseudogene Neighboring gene VISTA enhancer hs151 Neighboring gene ribosomal protein L31 pseudogene 56 Neighboring gene uncharacterized LOC105371279

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II 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
PubMed 
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
PubMed 

General protein information

Preferred Names
iroquois-class homeodomain protein IRX-6
Names
homeodomain protein IRXB3
iroquois homeobox protein 6
iroquois homeobox protein 7

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)

  1. NM_024335.3NP_077311.2  iroquois-class homeodomain protein IRX-6

    See identical proteins and their annotated locations for NP_077311.2

    Status: VALIDATED

    Source sequence(s)
    AC109462
    Consensus CDS
    CCDS32449.1
    UniProtKB/Swiss-Prot
    P78412, Q7Z2K0
    Related
    ENSP00000290552.8, ENST00000290552.8
    Conserved Domains (1) summary
    pfam05920
    Location:164203
    Homeobox_KN; Homeobox KN domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    55324203..55330756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256137.4XP_005256194.1  iroquois-class homeodomain protein IRX-6 isoform X1

    See identical proteins and their annotated locations for XP_005256194.1

    UniProtKB/Swiss-Prot
    P78412
    Conserved Domains (1) summary
    pfam05920
    Location:164203
    Homeobox_KN; Homeobox KN domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    61122362..61128939
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)