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    PROX2 prospero homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 283571, updated on 14-Nov-2024

    Summary

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    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 located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See PROX2 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74853033..74876145, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69062129..69085245, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

    Bibliography

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    Related articles in PubMed

    1. Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption. Cornelis MC, et al. PLoS Genet, 2011 Apr. PMID 21490707, Free PMC Article
    2. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. Lauc G, et al. PLoS Genet, 2013. PMID 23382691, Free PMC Article
    3. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36749

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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.

    mRNA and Protein(s)

    1. NM_001080408.3 → NP_001073877.2  prospero homeobox protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001073877.2

      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:244 → 363
      HPD; Homeo-prospero domain

    2. NM_001243007.2 → NP_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:439 → 590
      HPD; Homeo-prospero domain

    3. NM_001384314.1 → NP_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:439 → 590
      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_2024_08

    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_005267543.5 → XP_005267600.1  prospero homeobox protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005267600.1

      UniProtKB/Swiss-Prot
      C9J5W1, Q3B8N5, Q8N9Q3
      Conserved Domains (1) summary
      pfam05044
      Location:439 → 590
      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_054375882.1 → XP_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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3B8N5.3 GenPept UniProtKB/Swiss-Prot:Q3B8N5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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