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PROX2 prospero homeobox 2 [ Homo sapiens (human) ]

Gene ID: 283571, updated on 23-Nov-2021

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
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
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See PROX2 in Genome Data Viewer
Location:
14q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (74853033..74876663, complement)
105.20201022 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 methyltransferase 5, N6-adenosine pseudogene Neighboring gene HNF4 motif-containing MPRA enhancer 140 Neighboring gene dihydrolipoamide S-succinyltransferase Neighboring gene ribosomal protein S6 kinase like 1

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

Associated conditions

Description Tests
Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

General gene information

Markers

Homology

Clone Names

  • FLJ36749

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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_001080408.3NP_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
    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/Swiss-Prot
    Q3B8N5
    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
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    74853033..74876663 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267543.4XP_005267600.1  prospero homeobox protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005267600.1

    UniProtKB/Swiss-Prot
    Q3B8N5
    Conserved Domains (1) summary
    pfam05044
    Location:439590
    HPD; Homeo-prospero domain
  2. XM_017021222.1XP_016876711.1  prospero homeobox protein 2 isoform X1

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.
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