U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC110011216 paired like homeobox 2b polyalanine repeat instability region [ Homo sapiens (human) ]

Gene ID: 110011216, updated on 17-Sep-2024

Summary

Go to the top of the page Help
Gene symbol
LOC110011216
Gene description
paired like homeobox 2b polyalanine repeat instability region
Gene type
biological region
Feature type(s)
misc_feature: repeat_instability_region, sequence_alteration
repeat_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This biological region is found within the coding region of the paired like homeobox 2b (PHOX2B) gene on the p arm of chromosome 4, and contains an imperfect trinucleotide repeat that encodes a polyalanine tract. Expansions of this tract are a cause of congenital central hypoventilation syndrome (CCHS). Most expansions are de novo and expand the 20 alanine tract by 5-13 amino acids, but some inherited alleles from parents with somatic mosaicism or incomplete penetrance have also been documented. There have been conflicting reports as to whether expansions are of paternal origin, and if they are due to unequal crossing over, or, during DNA replication. The absence of alanine-contracted alleles, and relatively high frequency of inheritance from parents with somatic mosaicism suggests that repeat instability may occur during replication fork stalling and restart. It has been reported that individuals with a 7-alanine expansion more frequently have the rs17884724 T>G, 'G' allele than seen in unexpanded control subjects. [provided by RefSeq, Apr 2017]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC110011216 in Genome Data Viewer
Location:
4p13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (41745975..41746028)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (41719748..41719801)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (41747992..41748045)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene LIM and calponin homology domains 1 Neighboring gene uncharacterized LOC105374421 Neighboring gene olfactory receptor family 5 subfamily M member 14 pseudogene Neighboring gene PHOX2B antisense RNA 1 Neighboring gene paired like homeobox 2B Neighboring gene Sharpr-MPRA regulatory region 462 Neighboring gene RNA, U1 small nuclear 49, pseudogene Neighboring gene high mobility group box 1 pseudogene 28

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Sensitive detection of polyalanine expansions in PHOX2B by polymerase chain reaction using bisulfite-converted DNA. Horiuchi H, et al. J Mol Diagn, 2005 Nov. PMID 16258163, Free PMC Article
  2. De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis. Arai H, et al. J Hum Genet, 2007. PMID 17928950
  3. Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions. Bachetti T, et al. Int J Biochem Cell Biol, 2007. PMID 17045833
  4. Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation. Parodi S, et al. Clin Genet, 2010 Sep. PMID 20236122
  5. Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome. Bachetti T, et al. J Mol Med (Berl), 2011 May. PMID 21336852

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • PHOX2B polyalanine repeat instability region

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

Genomic

  1. NG_053075.1 

    Range
    101..154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    41745975..41746028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    41719748..41719801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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

Molecular Biology Databases