Gene name:
PHOX2B (PMX2B) ;
Protein name:
Paired mesoderm homeobox protein 2B ;
Alternative:
PHOX2B homeodomain protein ;Neuroblastoma Phox (NBPhox) ;Paired-like homeobox 2B ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Interacts with TRIM11.
Function:
Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.
Subcellular Location:
Nucleus
Protein Attributes:
50:
MYKMEYSYLN | SSAYESCMAG | MDTSSLASAY | ADFSSCSQAS | GFQYNPIRTT |
100:
FGATSGCPSL | TPGSCSLGTL | RDHQSSPYAA | VPYKLFTDHG | GLNEKRKQRR |
150:
IRTTFTSAQL | KELERVFAET | HYPDIYTREE | LALKIDLTEA | RVQVWFQNRR |
200:
AKFRKQERAA | AAAAAAAKNG | SSGKKSDSSR | DDESKEAKST | DPDSTGGPGP |
250:
NPNPTPSCGA | NGGGGGGPSP | AGAPGAAGPG | GPGGEPGKGG | AAAAAAAAAA |
300:
AAAAAAAAAA | GGLAAAGGPG | QGWAPGPGPI | TSIPDSLGGP | FASVLSSLQR |
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Mouse
ELISA Kit for Human Paired mesoderm homeobox protein 2B
ELISA Kit for Human Paired mesoderm homeobox protein 2B
CLIA Kit for Human Paired mesoderm homeobox protein 2B
CLIA Kit for Human Paired mesoderm homeobox protein 2B
Polyclonal Antibody for Human Paired mesoderm homeobox protein 2B
Polyclonal Antibody for Human Paired mesoderm homeobox protein 2B
Monoclonal Antibody for Human Paired mesoderm homeobox protein 2B
Monoclonal Antibody for Human Paired mesoderm homeobox protein 2B
Protein for Human Paired mesoderm homeobox protein 2B
Protein for Human Paired mesoderm homeobox protein 2B
R&D Technical Data
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Precision
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For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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Recovery
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For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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Linearity
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For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
References
1.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA]
tissue :
Neuroblastoma .
2.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA]
3.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA]
4.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue :
Brain .
5.
"Molecular analysis of congenital central hypoventilation syndrome."
Sasaki A.
,
Kanai M.
,
Kijima K.
,
Akaba K.
,
Hashimoto M.
,
Hasegawa H.
,
Otaki S.
,
Koizumi T.
,
Kusuda S.
,
Ogawa Y.
,
Tuchiya K.
,
Yamamoto W.
,
Nakamura T.
,
Hayasaka K.
Hum. Genet.114:22-26(2003)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT CCHS ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-241 INS;VARIANTS 254-ALA--ALA-258 DEL AND 255-ALA--ALA-259 DEL
6.
"Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome."
Amiel J.
,
Laudier B.
,
Attie-Bitach T.
,
Trang H.
,
de Pontual L.
,
Gener B.
,
Trochet D.
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Etchevers H.
,
Ray P.
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Simonneau M.
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Vekemans M.
,
Munnich A.
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Gaultier C.
,
Lyonnet S.
Nat. Genet.33:459-461(2003)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INVOLVEMENT IN CCHS;TRIPLET REPEAT EXPANSION
7.
"Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma."
Trochet D.
,
Bourdeaut F.
,
Janoueix-Lerosey I.
,
Deville A.
,
de Pontual L.
,
Schleiermacher G.
,
Coze C.
,
Philip N.
,
Frebourg T.
,
Munnich A.
,
Lyonnet S.
,
Delattre O.
,
Amiel J.
Am. J. Hum. Genet.74:761-764(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS LEU-100 AND GLY-141
8.
"PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome."
Trochet D.
,
O'Brien L.M.
,
Gozal D.
,
Trang H.
,
Nordenskjoeld A.
,
Laudier B.
,
Svensson P.-J.
,
Uhrig S.
,
Cole T.
,
Niemann S.
,
Munnich A.
,
Gaultier C.
,
Lyonnet S.
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Amiel J.
Am. J. Hum. Genet.76:421-426(2005)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS CCHS GLN-141 AND ARG-143;TRIPLET REPEAT EXPANSION
9.
Trochet D.
,
O'Brien L.M.
,
Gozal D.
,
Trang H.
,
Nordenskjoeld A.
,
Laudier B.
,
Svensson P.-J.
,
Uhrig S.
,
Cole T.
,
Niemann S.
,
Munnich A.
,
Gaultier C.
,
Lyonnet S.
,
Amiel J.
Am. J. Hum. Genet.76:715-715(2002)
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : ERRATUM
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT ASP-197;NEUROBLASTOMA SUSCEPTIBILITY