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

Gene ID: 5309, updated on 4-Jan-2025

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; AllianceGenome:HGNC:9006
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
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Genomic context

See PITX3 in Genome Data Viewer
Location:
10q24.32
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102230189..102241512, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103115176..103126499, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (103989946..104001269, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103911632-103912831 Neighboring gene nucleolar and coiled-body phosphoprotein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2751 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:103989615-103989783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2754 Neighboring gene ELOVL fatty acid elongase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3926 Neighboring gene golgi brefeldin A resistant guanine nucleotide exchange factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104029238-104029738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104029739-104030239 Neighboring gene Sharpr-MPRA regulatory region 13217 Neighboring gene Sharpr-MPRA regulatory region 15234 Neighboring gene uncharacterized LOC107984263 Neighboring gene MPRA-validated peak1080 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104147078-104147638 Neighboring gene NANOG hESC enhancer GRCh37_chr10:104151284-104151791 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:104151792-104152298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3929 Neighboring gene Sharpr-MPRA regulatory region 13585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104160632-104161328 Neighboring gene nuclear factor kappa B subunit 2

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Anophthalmia-microphthalmia syndrome
MedGen: C5680330 GeneReviews: Not available
Compare labs
Anterior segment dysgenesis 1
MedGen: C4551992 OMIM: 107250 GeneReviews: Not available
Compare labs
Cataract 11 multiple types
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 PubChem

Interactions

General gene information

Clone Names

  • MGC12766

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis  
involved_in animal organ morphogenesis PubMed 
involved_in cellular response to glial cell derived neurotrophic factor  
involved_in dopaminergic neuron differentiation  
involved_in dopaminergic neuron differentiation PubMed 
involved_in lens development in camera-type eye  
involved_in lens fiber cell differentiation  
involved_in lens morphogenesis in camera-type eye  
involved_in locomotory behavior  
involved_in midbrain development  
involved_in negative regulation of gliogenesis  
involved_in neuron development  
involved_in positive regulation of DNA-templated transcription  
involved_in positive regulation of cell proliferation in midbrain  
involved_in positive regulation of neuron apoptotic process  
involved_in positive regulation of transcription by RNA polymerase II  
involved_in regulation of DNA-templated transcription  
involved_in regulation of transcription by RNA polymerase II  
involved_in response to cocaine  
involved_in response to immobilization stress  
involved_in response to methamphetamine hydrochloride  
Component Evidence Code Pubs
located_in chromatin  
is_active_in nucleus  
located_in nucleus  

General protein information

Preferred Names
pituitary homeobox 3
Names
homeobox protein PITX3

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.

Genomic

  1. NG_008147.1 RefSeqGene

    Range
    4963..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, Q5VZL2
    Related
    ENSP00000359019.3, ENST00000370002.8
    Conserved Domains (2) summary
    pfam00046
    Location:66119
    Homeobox; Homeobox domain
    pfam03826
    Location:258275
    OAR; OAR 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

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    102230189..102241512 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425352.1XP_047281308.1  pituitary homeobox 3 isoform X1

    UniProtKB/Swiss-Prot
    O75364, Q5VZL2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    103115176..103126499 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054366090.1XP_054222065.1  pituitary homeobox 3 isoform X1

    UniProtKB/Swiss-Prot
    O75364, Q5VZL2
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