U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    PROX2 prospero homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 283571, updated on 17-Jun-2024

    Summary

    Official Symbol
    PROX2provided by HGNC
    Official Full Name
    prospero homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:26715
    See related
    Ensembl:ENSG00000119608 MIM:615094; AllianceGenome:HGNC:26715
    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
    PROX-2
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PROX2 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74853033..74876145, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69062129..69085245, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75319736..75342848, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8730 Neighboring gene YLP motif containing 1 Neighboring gene uncharacterized LOC105370569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8731 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:75321384-75322583 Neighboring gene uncharacterized LOC124903348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75342793-75343292 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:75348551-75348777 Neighboring gene METTL5 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8732 Neighboring gene HNF4 motif-containing MPRA enhancer 140 Neighboring gene dihydrolipoamide S-succinyltransferase Neighboring gene ribosomal protein S6 kinase like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75388716-75389487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75389488-75390258

    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 Apr 4 07:08:55 2018

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    General gene information

    Markers

    Clone Names

    • FLJ36749

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development 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
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    prospero homeobox protein 2
    Names
    homeobox prospero-like protein PROX2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001080408.3NP_001073877.2  prospero homeobox protein 2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC006530
      Consensus CDS
      CCDS45136.2
      UniProtKB/TrEMBL
      Q9Y6T0
      Related
      ENSP00000501015.1, ENST00000673765.1
      Conserved Domains (1) summary
      pfam05044
      Location:244363
      HPD; Homeo-prospero domain
    2. NM_001243007.2NP_001229936.1  prospero homeobox protein 2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC006530
      Consensus CDS
      CCDS73663.1
      UniProtKB/TrEMBL
      G3V3G0
      Related
      ENSP00000451223.2, ENST00000556489.4
      Conserved Domains (1) summary
      pfam05044
      Location:439590
      HPD; Homeo-prospero domain
    3. NM_001384314.1NP_001371243.1  prospero homeobox protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC006530
      Consensus CDS
      CCDS73663.1
      UniProtKB/TrEMBL
      G3V3G0
      Conserved Domains (1) summary
      pfam05044
      Location:439590
      HPD; Homeo-prospero domain

    RNA

    1. NR_169190.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006530

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      74853033..74876145 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267543.5XP_005267600.1  prospero homeobox protein 2 isoform X1

      UniProtKB/Swiss-Prot
      C9J5W1, Q3B8N5, Q8N9Q3
      Conserved Domains (1) summary
      pfam05044
      Location:439590
      HPD; Homeo-prospero domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      69062129..69085245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375882.1XP_054231857.1  prospero homeobox protein 2 isoform X1

      UniProtKB/Swiss-Prot
      C9J5W1, Q3B8N5, Q8N9Q3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173606.1: Suppressed sequence

      Description
      NM_173606.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.