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PITX3 paired like homeodomain 3 [ Homo sapiens (human) ]

Gene ID: 5309, updated on 7-Dec-2018

Summary

Official Symbol
PITX3provided by HGNC
Official Full Name
paired like homeodomain 3provided by HGNC
Primary source
HGNC:HGNC:9006
See related
Ensembl:ENSG00000107859 MIM:602669
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
ASMD; ASOD; PTX3; ASGD1; CTPP4; CTRCT11
Summary
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See PITX3 in Genome Data Viewer
Location:
10q24.32
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (102230189..102241474, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (103989946..104001231, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene nucleolar and coiled-body phosphoprotein 1 Neighboring gene ELOVL fatty acid elongase 3 Neighboring gene golgi brefeldin A resistant guanine nucleotide exchange factor 1 Neighboring gene uncharacterized LOC107984263 Neighboring gene nuclear factor kappa B subunit 2

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

Associated conditions

Description Tests
Anophthalmia-microphthalmia syndrome Compare labs
Anterior segment mesenchymal dysgenesis
MedGen: C1862839 OMIM: 107250 GeneReviews: Not available
Compare labs
Cataract 11
MedGen: C1864567 OMIM: 610623 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-11-06)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-11-06)

ClinGen Genome Curation Page

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC12766

Gene Ontology Provided by GOA

Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cellular response to glial cell derived neurotrophic factor IEA
Inferred from Electronic Annotation
more info
 
dopaminergic neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
dopaminergic neuron differentiation TAS
Traceable Author Statement
more info
PubMed 
lens development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
lens fiber cell differentiation IEA
Inferred from Electronic Annotation
more info
 
lens morphogenesis in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
midbrain development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gliogenesis IEA
Inferred from Electronic Annotation
more info
 
neuron development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation in midbrain IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
response to cocaine IEA
Inferred from Electronic Annotation
more info
 
response to immobilization stress IEA
Inferred from Electronic Annotation
more info
 
response to methamphetamine hydrochloride IEA
Inferred from Electronic Annotation
more info
 
response to morphine IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
pituitary homeobox 3
Names
homeobox protein PITX3

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.

Genomic

  1. NG_008147.1 RefSeqGene

    Range
    5001..16286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005029.4NP_005020.1  pituitary homeobox 3

    See identical proteins and their annotated locations for NP_005020.1

    Status: REVIEWED

    Source sequence(s)
    AL160011
    Consensus CDS
    CCDS7532.1
    UniProtKB/Swiss-Prot
    O75364
    Related
    ENSP00000359019.3, ENST00000370002.7
    Conserved Domains (2) summary
    pfam00046
    Location:66118
    Homeobox; Homeobox domain
    pfam03826
    Location:258275
    OAR; OAR 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_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    102230189..102241474 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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