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    PITX2 paired like homeodomain 2 [ Homo sapiens (human) ]

    Gene ID: 5308, updated on 16-Jun-2016
    Official Symbol
    PITX2provided by HGNC
    Official Full Name
    paired like homeodomain 2provided by HGNC
    Primary source
    HGNC:HGNC:9005
    See related
    Ensembl:ENSG00000164093 HPRD:03328; MIM:601542; Vega:OTTHUMG00000132837
    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
    RS; RGS; ARP1; Brx1; IDG2; IGDS; IHG2; PTX2; RIEG; IGDS2; IRID2; Otlx2; RIEG1
    Summary
    This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    4q25
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (110617423..110642123, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (111538579..111563279, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene glutamyl aminopeptidase Neighboring gene PITX2 adjacent non-coding RNA Neighboring gene microRNA 297 Neighboring gene lysophospholipase I pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Anophthalmia/Microphthalmia Compare labs
    Axenfeld-Rieger syndrome type 1
    MedGen: C3714873 OMIM: 180500 GeneReviews: Not available
    Compare labs
    Irido-corneo-trabecular dysgenesis
    MedGen: C0344559 OMIM: 604229 GeneReviews: Not available
    Compare labs
    Iridogoniodysgenesis, dominant type
    MedGen: C1842031 OMIM: 137600 GeneReviews: Not available
    Compare labs
    Ring dermoid of cornea
    MedGen: C1867155 OMIM: 180550 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Common variants in KCNN3 are associated with lone atrial fibrillation.
    NHGRI GWA Catalog
    Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
    NHGRI GWA Catalog
    Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
    NHGRI GWA Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    NHGRI GWA Catalog
    Variants conferring risk of atrial fibrillation on chromosome 4q25.
    NHGRI GWA Catalog
    Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.
    NHGRI GWA Catalog
    • Heart Development, organism-specific biosystem (from WikiPathways)
      Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
      Regulation of Wnt-mediated beta catenin signaling and target gene transcription
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC20144, MGC111022

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    atrial cardiac muscle tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    atrioventricular valve development IEA
    Inferred from Electronic Annotation
    more info
     
    camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cardiac neural crest cell migration involved in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell proliferation involved in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    deltoid tuberosity development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    endodermal digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    extraocular skeletal muscle development IEA
    Inferred from Electronic Annotation
    more info
     
    female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    hair cell differentiation IC
    Inferred by Curator
    more info
    PubMed 
    hypothalamus cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    iris morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    left lung morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    left/right axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    myoblast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    odontogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    odontogenesis of dentin-containing tooth IEA
    Inferred from Electronic Annotation
    more info
     
    patterning of blood vessels IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of myoblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    prolactin secreting cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    pulmonary myocardium development IEA
    Inferred from Electronic Annotation
    more info
     
    pulmonary vein morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin A IEA
    Inferred from Electronic Annotation
    more info
     
    somatotropin secreting cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    spleen development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    subthalamic nucleus development IEA
    Inferred from Electronic Annotation
    more info
     
    superior vena cava morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    vascular smooth muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular septum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    pituitary homeobox 2
    Names
    ALL1-responsive protein ARP1
    all1-responsive gene 1
    homeobox protein PITX2
    paired-like homeodomain 2
    paired-like homeodomain transcription factor 2
    rieg bicoid-related homeobox transcription factor 1
    solurshin

    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_007120.1 RefSeqGene

      Range
      230..24930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000325.5NP_000316.2  pituitary homeobox 2 isoform c

      See identical proteins and their annotated locations for NP_000316.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as ARP1c, lacks several exons at the 5' end and has an alternate 5' exon, as compared to variant 2. The resulting isoform (c) has a longer and distinct N-terminus, as compared to isoform b.
      Source sequence(s)
      AC017068, BC013998
      Consensus CDS
      CCDS3694.1
      UniProtKB/Swiss-Prot
      Q99697
      Related
      ENSP00000304169, OTTHUMP00000163738, ENST00000306732, OTTHUMT00000256310
      Conserved Domains (2) summary
      cd00086
      Location:93151
      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.
      pfam03826
      Location:281299
      OAR; OAR domain
    2. NM_001204397.1NP_001191326.1  pituitary homeobox 2 isoform b

      See identical proteins and their annotated locations for NP_001191326.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an additional exon in the 5' UTR, as compared to variant 2. Variants 2, 4 and 5 encode the same isoform b.
      Source sequence(s)
      AK127829, BC106010, BP372081, BX380370, U69961
      Consensus CDS
      CCDS3692.1
      UniProtKB/Swiss-Prot
      Q99697
      Related
      ENSP00000347004, OTTHUMP00000163736, ENST00000354925, OTTHUMT00000256308
      Conserved Domains (2) summary
      cd00086
      Location:86144
      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.
      pfam03826
      Location:274292
      OAR; OAR domain
    3. NM_001204398.1NP_001191327.1  pituitary homeobox 2 isoform b

      See identical proteins and their annotated locations for NP_001191327.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an exon in the 5' UTR, as compared to variant 2. Variants 2, 4 and 5 encode the same isoform b.
      Source sequence(s)
      BC106010, BP372081
      Consensus CDS
      CCDS3692.1
      UniProtKB/Swiss-Prot
      Q99697
      Related
      ENSP00000481951, ENST00000614423
      Conserved Domains (2) summary
      cd00086
      Location:86144
      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.
      pfam03826
      Location:274292
      OAR; OAR domain
    4. NM_001204399.1NP_001191328.1  pituitary homeobox 2 isoform a

      See identical proteins and their annotated locations for NP_001191328.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an exon in the 5' UTR and an in-frame exon in the 5' CDS, as compared to variant 2. The resulting isoform (a) lacks an internal segment, as compared to isoform b. Variants 1 and 6 encode the same isoform a.
      Source sequence(s)
      BC106010, BP372081
      Consensus CDS
      CCDS3693.1
      UniProtKB/Swiss-Prot
      Q99697
      Conserved Domains (2) summary
      cd00086
      Location:4098
      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.
      pfam03826
      Location:228246
      OAR; OAR domain
    5. NM_153426.2NP_700475.1  pituitary homeobox 2 isoform b

      See identical proteins and their annotated locations for NP_700475.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as ARP1b, encodes the predominant isoform (b).
      Source sequence(s)
      AK127829, BC013998, BC106010, BP372081, BX380370, U69961
      Consensus CDS
      CCDS3692.1
      UniProtKB/Swiss-Prot
      Q99697
      Related
      ENSP00000484763, ENST00000613094
      Conserved Domains (2) summary
      cd00086
      Location:86144
      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.
      pfam03826
      Location:274292
      OAR; OAR domain
    6. NM_153427.2NP_700476.1  pituitary homeobox 2 isoform a

      See identical proteins and their annotated locations for NP_700476.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as ARP1a, lacks an in-frame exon in the 5' region, as compared to variant 2. The resulting isoform (a) lacks an internal segment, as compared to isoform b. Variants 1 and 6 encode the same isoform a.
      Source sequence(s)
      AK127829, BC106010, BP372081, BX380370, U69961
      Consensus CDS
      CCDS3693.1
      UniProtKB/Swiss-Prot
      Q99697
      Related
      ENSP00000484909, ENST00000616641
      Conserved Domains (2) summary
      cd00086
      Location:4098
      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.
      pfam03826
      Location:228246
      OAR; OAR domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      110617423..110642123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532027.2XP_011530329.1  

      See identical proteins and their annotated locations for XP_011530329.1

      UniProtKB/Swiss-Prot
      Q99697
      Related
      ENSP00000347192, OTTHUMP00000163735, ENST00000355080, OTTHUMT00000256307
      Conserved Domains (2) summary
      cd00086
      Location:4098
      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.
      pfam03826
      Location:228246
      OAR; OAR domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      111515486..111540182 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)