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Validated All-in-One™ qPCR Primer for PHOX2B(NM_003924.4) Search again
Product ID:
HQP165009
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CCHS, NBLST2, NBPhox, PMX2B
Gene Description:
paired like homeobox 2B
Target Gene Accession:
NM_003924.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype.
Gene References into function
- PHOX2B has a role in the normal patterning of the autonomous ventilation system and, more generally, of the ANS in humans
- A de novo t(4;8)(p13;p22) translocation in a girl with Hirschsprung's disease contained a 4p12p13 deletion affecting the PMX2B gene. PMX2B haploinsuffciency might predispose to HSCR.
- germline mutations of PHOX2B in both a familial case of neuroblastoma and a patient with the HSCR-NB association; PHOX2B, therefore, stands as the first gene for which germline mutations predispose to NB
- PHOX2B gene in 23 cases of SIDS and did not find any mutations, except for three polymorphic nucleotidic substitutions; the mutation of PHOX2B is thus not likely associated with SIDS
- Data report the molecular cloning and characterization of the promoter region of the human Phox2b gene.
- report the first analysis of Phox2B in a series of 237 sporadic neuroblastomas and 22 cell lines
- patients with congenital central hypoventilation syndrome who develop malignant tumors of the sympathetic nervous system harbor either a missense or a frameshift heterozygous mutation of the PHOX2B gene
- PHOX2B may have a role in causing pediatric disorders with autonomic dysfunction [review]
- the polymorphisms of the ARIX gene and PHOX2B gene may be genetic risk factors for the development of congenital superior oblique muscle palsy
- PHOX2A, but not PHOX2B, seems to act directly on the c-RET promoter
- A possible molecular explanation for the maintenance of PHOX2B expression in developing ganglia, in which it is initially controlled by other factors and is later self-regulated, is reported.
- Molecular basis of impaired PHOX2B function due to missense, frameshift and alanine expansion mutations leading to autonomic dysfunction was determined.
- These results demonstrate the direct interactions of the Phox2a and b and dHAND transcription factors within a noradrenergic cell type.
- These results support the PHOX2B-TLX2 promoter interaction, suggesting a physiological role in the transcription-factor cascade underlying the differentiation of neuronal lineages of the Autonomic Nervous System during human embryogenesis.
- PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.
- PHOX2B plays exclusive role in the pathogenesis of CCHS.
- a polymorphism in paired like homeobox (PHOX) 2B gene may have a role in sudden infant death syndrome
- adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring.
- Congenital central hypoventilation syndrome associated nonpolyalanine repeat mutations in PHOX2B are mostly de novo, predominantly affect the 3'end of PHOX2B, and generally associated with a more severe phenotype.
- study demonstrates that the interaction between RET and PHOX2B polymorphisms has a substantial impact on risk of Hirschsprung's disease
- PHOX2B, like PHOX2A, is involved in the cascade leading to transcription factor TLX2 transactivation and presumably is involved in intestinal neuronal differentiation.
- PHOX2B polyalanine expansion mutation affects the development of the autonomic nervous system leading to autonomic dysfunction in congenital central hypoventilation syndrome.
- PHOX2B alterations are a rare cause of hereditary neuroblastoma, but disruption of this neurodevelopmental pathway can interfere with transcription-dependent terminal differentiation.
- No mutation was identified but LOH in about 10% of the cases and aberrant CpG dinucleotide methylation of the 500 bp PHOX2B promoter region in 4/31 tumours and cell lines (12.9%). Both germinal and somatic anomalies at the PHOX2B locus are found in NB.
- PHOX2B genotype is related to the severity of cardiac autonomic dysregulation in congenital central hypoventilation syndrome.
- 17 heterozygous PHOX2B gene mutations were fiybd in 25 patients with Late-onset central hypoventilation syndrome ;the most common mutation results in an expansion+5 alanines
- Parental origin and somatic mosaicism of paired-like homeobox 2b mutations in Congenital Central Hypoventilation Syndrome
- show that mice bearing a mutation in Phox2b that causes congenital central hypoventilation syndrome in humans breathe irregularly
- This study suggests a potential role for Trim11 in the specification of NA phenotype by interaction with Phox2b.
- Loss of PHOX2B and 17q gain are early events in neuroblastoma tumourigenesis.
- a heterozygous 15-nucleotide deletion, PHOX2B 1124del15, resulting in loss of 5 alanine residues in the alanine repeat, was found in a daughter with muscle palsy and her father with normal traits, but was not found in her mother with muscle palsy
- report a patient with a Congenital Central Hypoventilation Syndrome (CCHS) phenotype and homozygosity for a PHOX2B gene mutation leading to an alanine expansion shorter than the threshold hitherto observed in CCHS patients with a heterozygous mutation
- the data support a model in which RET and PHOX2B contribute to the combined phenotype in congenital central hypoventilation syndrome combined with Hirschsprung disease
- PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.
- sequencing the complete PHOX2b coding region in tumors from 69 patients with sporadic neuroblastomas revealed missense mutation, silent mutation and a new polymorphism
- The human PHOX2B locus contained functional non-conserved regulatory sequences in addition to conserved PHOX2B functional elements. The distribution of regulatory elements is nonuniform.