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SIX3 SIX homeobox 3 [ Homo sapiens (human) ]

Gene ID: 6496, updated on 19-Dec-2014
Official Symbol
SIX3provided by HGNC
Official Full Name
SIX homeobox 3provided by HGNC
Primary source
HGNC:HGNC:10889
See related
Ensembl:ENSG00000138083; HPRD:04756; MIM:603714; Vega:OTTHUMG00000152424
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HPE2
Summary
This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]
See SIX3 in Epigenomics, MapViewer
Location:
2p21
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (44941898..44946077)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (45169037..45173216)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100130502 Neighboring gene SIX3 antisense RNA 1 Neighboring gene keratinocyte-associated protein 2-like Neighboring gene uncharacterized LOC730043 Neighboring gene SIX homeobox 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Anophthalmia/Microphthalmia Compare labs
Holoprosencephaly 2
MedGen: C1834877 OMIM: 157170 GeneReviews: Holoprosencephaly Overview
Compare labs
Schizencephaly
MedGen: C0266484 OMIM: 269160 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2011-11-07)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2011-11-07)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
NHGRI GWA Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II distal enhancer sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription coactivator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription corepressor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process involved in development ISS
Inferred from Sequence or Structural Similarity
more info
 
brain development TAS
Traceable Author Statement
more info
PubMed 
cell proliferation in forebrain ISS
Inferred from Sequence or Structural Similarity
more info
 
circadian behavior IEA
Inferred from Electronic Annotation
more info
 
epithelial cell maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
eye development IDA
Inferred from Direct Assay
more info
PubMed 
forebrain anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
forebrain dorsal/ventral pattern formation IDA
Inferred from Direct Assay
more info
PubMed 
lens development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
lens fiber cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
lens fiber cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
lens induction in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
neuroblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
neuroblast migration ISS
Inferred from Sequence or Structural Similarity
more info
 
optic vesicle morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pituitary gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
protein import into nucleus, translocation ISS
Inferred from Sequence or Structural Similarity
more info
 
proximal/distal axis specification ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell cycle phase transition ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neural precursor cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neural retina development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of neuroblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
telencephalon development ISS
Inferred from Sequence or Structural Similarity
more info
 
telencephalon regionalization ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
homeobox protein SIX3
Names
homeobox protein SIX3
sine oculis homeobox homolog 3

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.

Genomic

  1. NG_016222.1 

    Range
    5001..9180
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005413.3NP_005404.1  homeobox protein SIX3

    See proteins identical to NP_005404.1

    Status: REVIEWED

    Source sequence(s)
    AC012354, AJ012611, BF570321, BM668514, CD673488, EL952320
    Consensus CDS
    CCDS1821.1
    UniProtKB/Swiss-Prot
    O95343
    Related
    ENSP00000260653, OTTHUMP00000201650, ENST00000260653, OTTHUMT00000326192
    Conserved Domains (1) summary
    cd00086
    Location:208256
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    44941898..44946077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    45098943..45103122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    44885400..44910885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)