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PROX2 prospero homeobox 2 [ Homo sapiens (human) ]

Gene ID: 283571, updated on 7-Sep-2023

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 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
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_2023_03 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74853033..74876145, complement)
RS_2023_03 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 YLP motif containing 1 Neighboring gene uncharacterized LOC105370569 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 METTL5 pseudogene 1 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
  • 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)

Genotypes

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
 PubMed 
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
 PubMed 
Process Evidence Code Pubs
involved_in cell 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
 PubMed 
involved_in system development IEA
Inferred from Electronic Annotation
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
 PubMed 

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/Swiss-Prot
    Q3B8N5
    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/Swiss-Prot
    Q3B8N5
    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_2023_03

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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