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 a... See more...

Aliases for LOC110011216 Gene

Aliases for LOC110011216 Gene

  • Paired Like Homeobox 2b Polyalanine Repeat Instability Region 3
  • PHOX2B Polyalanine Repeat Instability Region 3

External Ids for LOC110011216 Gene

Summaries for LOC110011216 Gene

Entrez Gene Summary for LOC110011216 Gene

  • 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]

GeneCards Summary for LOC110011216 Gene

LOC110011216 (Paired Like Homeobox 2b Polyalanine Repeat Instability Region) is a Biological Region gene. Diseases associated with LOC110011216 include Central Hypoventilation Syndrome, Congenital and Neuroblastoma.

Additional gene information for LOC110011216 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC110011216 Gene

Genomics for LOC110011216 Gene

Genomic Locations for LOC110011216 Gene

Genomic Locations for LOC110011216 Gene
chr4:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110011216 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110011216 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110011216 Gene

Proteins for LOC110011216 Gene

Post-translational modifications for LOC110011216 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110011216 Gene

Domains & Families for LOC110011216 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110011216 Gene

Function for LOC110011216 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC110011216 Gene

Localization for LOC110011216 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC110011216 Gene

Pathways & Interactions for LOC110011216 Gene

PathCards logo

SuperPathways for LOC110011216 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110011216 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110011216 Gene

Drugs & Compounds for LOC110011216 Gene

No Compound Related Data Available

Transcripts for LOC110011216 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110011216 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110011216 Gene

Expression for LOC110011216 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC110011216 Gene

Orthologs for LOC110011216 Gene

No data available for Orthologs and Evolution for LOC110011216 Gene

Paralogs for LOC110011216 Gene

No data available for Paralogs for LOC110011216 Gene

Variants for LOC110011216 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC110011216 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
652159 Uncertain Significance: Congenital central hypoventilation 41,746,002( ) CGCTGCCGCGGCCGCC INFRAME_DELETION
695516 Likely Benign: not provided 41,745,990( ) T/C SYNONYMOUS_VARIANT
699464 Likely Benign: not provided 41,745,984( ) TGCCGCTGCCGCCGCC INFRAME_DELETION
702863 Likely Benign: not provided 41,746,011( ) G/T SYNONYMOUS_VARIANT
703424 Likely Benign: not provided 41,746,008( ) C/G SYNONYMOUS_VARIANT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC110011216 Gene

Disorders for LOC110011216 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LOC110011216 Gene - From: GeneCards

Disorder Aliases PubMed IDs
central hypoventilation syndrome, congenital
  • cchs
neuroblastoma
  • nb
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC110011216: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110011216 Gene

Publications for LOC110011216 Gene

  1. Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import. (PMID: 27129232) Di Lascio S … Fornasari D (The Journal of biological chemistry 2016) 3 54
  2. Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene. (PMID: 27485184) Klaskova E … Prochazka M (Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2016) 3 54
  3. Key Role of Amino Acid Repeat Expansions in the Functional Diversification of Duplicated Transcription Factors. (PMID: 25931513) Radó-Trilla N … Albà MM (Molecular biology and evolution 2015) 3 54
  4. Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome. (PMID: 26011159) Armstrong AE … Walterhouse DO (Pediatric blood & cancer 2015) 3 54
  5. Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations. (PMID: 23460419) Chuen-im P … Rivera-Spoljaric K (Pediatric pulmonology 2014) 3 54

No data available for Mastermind for LOC110011216 Gene

Products for LOC110011216 Gene

Sources for LOC110011216 Gene