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PAX2 information


PAX2
Identifiers
AliasesPAX2, PAPRS, FSGS7, paired box 2, PAX-2
External IDsOMIM: 167409; MGI: 97486; HomoloGene: 2968; GeneCards: PAX2; OMA:PAX2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_011037

RefSeq (protein)
Location (UCSC)Chr 10: 100.74 – 100.83 MbChr 19: 44.76 – 44.84 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Paired box gene 2, also known as Pax-2, is a protein which in humans is encoded by the PAX2 gene.[5][6]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000075891 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004231 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Pilz AJ, Povey S, Gruss P, Abbott CM (1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mammalian Genome. 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641. S2CID 30845070.
  6. ^ Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (Apr 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748. S2CID 21338655.

and 26 Related for: PAX2 information

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PAX2

Last Update:

gene 2, also known as Pax-2, is a protein which in humans is encoded by the PAX2 gene. The Pax Genes, or Paired-Box Containing Genes, play important roles...

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Coloboma

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known as Fuchs coloboma. Coloboma can be associated with a mutation in the PAX2 gene. Eye abnormalities have been shown to occur in over 90% of children...

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Papillorenal syndrome

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stalk causes optic disc dysplasia, which is caused by a mutation in the Pax2 gene. The nerve head typically resembles the morning glory disc anomaly,...

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Fallopian tube

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development of the fallopian tubes include the Wnt and Hox groups of genes, Lim1, Pax2, and Emx2. Embryos have two pairs of ducts that will let gametes out of the...

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Intermediate mesoderm

Last Update:

induction include the odd-skipped related gene (Osr1) and paired-box-2 gene (Pax2) which require intermediate levels of BMP signalling to activate Markers...

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Tamoxifen

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cancers. Tamoxifen seems to require a protein PAX2 for its full anticancer effect. In the presence of high PAX2 expression, the tamoxifen/ER complex is able...

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Homeobox

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GSC, GSC2; HESX1; HOPX; ISX; LEUTX; MIXL1; NOBOX; OTP; OTX1, OTX2, CRX; PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8; PHOX2A, PHOX2B; PITX1, PITX2, PITX3;...

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Multicystic dysplastic kidney

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question occur at EYA1 or SIX1 genes (branchio-oto-renal syndrome). The PAX2 gene is also thought to play a role in MCDK. The contralateral kidney often...

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Renal hypoplasia

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this condition is in the mutations in kidney-related genes, namely, HNF1B, PAX2, PBX1. However, environmental factors like maternal diseases such as diabetes...

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List of distinct cell types in the adult human body

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None ITGA11, LMX1B Splat_347 unknown unknown brain None None unknown None PAX2, HOXB3, EBF3 Splat_348 unknown unknown brain None None unknown None HOXD3...

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HER2

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when the ratio of the coactivator AIB-3 exceeds that of the corepressor PAX2, the expression of HER2 is upregulated in the presence of tamoxifen, leading...

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Campomelic dysplasia

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polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie...

Word Count : 1003

Ear

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structures such as the cochlea is regulated by Dlx5/Dlx6, Otx1/Otx2 and Pax2, which in turn are controlled by the master gene Shh. Shh is secreted by...

Word Count : 6960

Microphthalmia

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HMGB3 HMX1 IGBP1 KAT6B KMT2D LRP2 MAB21L2 MAF MFRP NAA10 NDUFB11 NHS OTX2 PAX2 PAX6 PDE6D PIGL POLR1C POLR1D PORCN PQBP1 PRSS56 PTCH1 RAB3GAP1 RAB3GAP2...

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List of human transcription factors

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Paired box Known motif – High-throughput in vitro [674] SGTCACGCWTSANTGVH PAX2 ENSG00000075891 Homeodomain; Paired box Known motif – High-throughput in...

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Transcription factor

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since it is not clear that they are "drugable" but progress has been made on Pax2 and the notch pathway. Gene duplications have played a crucial role in the...

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Ciliopathy

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300000 MID1 Pallister–Hall syndrome 146510 GLI3 Papillorenal syndrome 120330 PAX2 Renal–hepatic–pancreatic dysplasia 208540 NPHP3 Varadi–Papp syndrome (oral-facial-digital...

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Thoracic diaphragm

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LZ (March 1999). "Characterization of an amphioxus paired box gene, AmphiPax2/5/8: developmental expression patterns in optic support cells, nephridium...

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Bone morphogenetic protein

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formation of the Mullerian duct is regulated by sequential actions of BMP/Pax2 and FGF/Lim1 signaling". Development. 143 (19): 3549–3559. doi:10.1242/dev...

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Nuclear receptor coactivator 3

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assists nuclear receptors in the upregulation of gene expression. The ratio of PAX2 to AIB-1 protein expression may be predictive of the effectiveness of tamoxifen...

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Pax genes

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has been linked to undulated mutant suffering from skeletal malformations. PAX2 has been identified with kidney and optic nerve development. It transcribes...

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Syndromic microphthalmia

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Orofaciodigital syndrome type VI LRP5 AR Osteoporosis-pseudoglioma syndrome PAX2 AD Papillorenal syndrome ATOH7 AR Persistent fetal vasculature (PFV)/persistent...

Word Count : 538

Otic vesicle

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ear structures is determined by homeobox transcription factors including PAX2, DLX5 and DLX6, with the former specifying for ventral otic vesicle derived...

Word Count : 816

CLIP4

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Sequence NOLF Early B-cell factor 1 17 0.98 taagagTCCCcagggcagaaaca PAX2 Zebrafish PAX2 paired domain protein 18 0.8 aagagtccccagggcagAAACaa AP2F Transcription...

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Breast cancer classification

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utility of potential biomarkers of tamoxifen responsiveness such as HOXB13, PAX2, and estrogen receptor (ER) alpha and beta isoforms interaction with SRC3...

Word Count : 9503

PAXIP1

Last Update:

implicated in Alzheimer's disease. PAXIP1 has been shown to interact with PAX2 and TP53BP1. GRCh38: Ensembl release 89: ENSG00000157212 – Ensembl, May 2017...

Word Count : 802

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