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Aliases & Descriptions for PAX4
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| KPD 2, 5 | | MGC129960 2 | | MODY9 2, 5 |
| | | Descriptions |
|---|
| paired box 4 2 | | paired box gene 4 1, 2 | | paired domain gene 4 2 |
|
| | Search outside databases for aliases for PAX4 genePrevious GC identifers: GC07M125728 GC07M126791 GC07M126804 GC07M126844 |
Summaries for PAX4(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for PAX4: This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq] UniProtKB/Swiss-Prot: PAX4_HUMAN, O43316Function: Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. The Pax4v isoform appears to be a dominant negative form antagonizing PAX4 transcriptional activityGene Wiki entry for PAX4 |
Genomic Location for PAX4
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the PAX4 gene 
Entrez Gene cytogenetic band: 7q32 Ensembl cytogenetic band: 7q32.1 HGNC cytogenetic band: 7q32.1PAX4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 7 GeneLoc Exon Structure GeneLoc location for GC07M127037:
(about GC identifiers)
Start:
|
127,037,582 bp from pter |
End:
|
127,043,218 bp from pter |
Size:
|
5,637 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr7-,CRA_TCAG 126,633,785-126,639,226 |
RefSeq DNA sequence:- NC_000007.12 NT_007933.14 NT_079596.2
| Proteins for PAX4
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: PAX4_HUMAN, O43316 (See
protein sequence)Recommended Name: Paired box protein Pax-4 Size: 350 amino acids; 37833 Da
Subcellular location: Nucleus
Sequence caution: Sequence=AC073934; Type=Miscellaneous discrepancy; Note=According to the human genome assembly there is a stop codon in position 349;
Secondary accessions: O95161 Q6B0H0Alternative splicing: 3 isoforms: O43316-1 O43316-2 O43316-4 REFSEQ proteins: NP_006184.2
ENSEMBL proteins: ENSP00000368014 ENSP00000339906 ENSP00000344297
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: PAX4 
1 Gene Ontology (GO) cellular component term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- | About this table
Antibodies for PAX4: Assays for PAX4: | Protein
Domains/ Families for PAX4(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry O43316
ProtoNet protein and cluster: O43316 1 Blocks protein family: IPB001523 Paired box protein
UniProtKB/Swiss-Prot: PAX4_HUMAN, O43316Similarity: Belongs to the paired homeobox familySimilarity: Contains 1 homeobox DNA-binding domainSimilarity: Contains 1 paired domain | Gene Function for PAX4
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006193
Applied Biosystems Silencer® siRNAs for PAX4
Sigma-Aldrich siRNA for PAX4  Sigma-Aldrich shRNA for PAX4  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_006193                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_006193                                  untagged cDNA clone in CMV expression vector: NM_006193 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_006193
UniProtKB/Swiss-Prot: PAX4_HUMAN, O43316Function: Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. The Pax4v isoform appears to be a dominant negative form antagonizing PAX4 transcriptional activityGenatlas biochemistry entry for PAX4:paired box (DNA binding) containing protein 4,with homeo domain,predominantly expressed in placenta and skeletal muscle,also expressed in heart and pancreas,essential for differentiation of insulin-producing beta-cells4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Pax4):
2 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003700 | transcription factor activity |
IEA | -- | | GO:0043565 | sequence-specific DNA binding |
IEA | -- | About this table | Pathways & Interactions for PAX4
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for PAX4 
5/10 Interacting proteins for PAX4 (ENSP000003680143) via UniProtKB, MINT, and/or STRING (see all 10
)About this table
4 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for PAX4(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for PAX4 1 Novoseek chemical compound relationship for PAX4 gene
About this table
|
Transcripts for PAX4(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006193
Sigma-Aldrich siRNA for PAX4  Sigma-Aldrich shRNA for PAX4  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_006193 REFSEQ mRNAs for PAX4 gene: NM_006193.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_006193               OriGene GFP tagged cDNA clone in CMV expression vector: NM_006193                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_006193                                  untagged cDNA clone in CMV expression vector: NM_006193  Additional cDNA sequence: AB008913.1 AF043978.1 BC074761.2 BC107149.2 BC107150.1 DQ442656.1 1 DOTS entry: DT.91748890 5 AceView cDNA sequences:AB008913 NM_006193 AF043978 BC074761 BV198517
highest scoring ESTs for PAX4:AB008913 AF043978 BC074761 NM_006193 BC107149 BC107150 DQ442656 Unigene Cluster for PAX4: Paired box 4 Hs.129706 Unigene Representative Sequence: AF043978
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for PAX4
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | |
| SP1: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | - |   | |   | - |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for PAX4
3 Ensembl transcripts including schematic representations: ENST00000378740
ENST00000341640
ENST00000338516
|
Expression for PAX4
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| PAX4 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for PAX4
1 / 2 / 3 6 probe-sets matching PAX4 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CATCCCCAAA
SOURCE GeneReport for Unigene cluster: Hs.129706
Expression variation in blood from EXPOLDB for PAX4 |
Orthologs for PAX4
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for PAX4 gene from 4 species
About this table Species with no ortholog for PAX4
ENSEMBL Gene Tree for PAX4 | Paralogs for PAX4(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for PAX4 gene
- PAX72 PAX32 PAX62
|
SNPs/Variants for PAX4(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for PAX4 (up to first 250kb)
|
Disorders & Mutations for PAX4
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 167413 disorders: 612225 125853 612227 UniProtKB/Swiss-Prot: PAX4_HUMAN, O43316
Defects in PAX4 are a cause of noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]; also known as diabetes mellitus type 2 or maturity-onset diabetes. NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood and insulin resistance Genetic variations in PAX4 are associated with susceptibility to insulin-dependent diabetes mellitus (IDDM) [MIM:222100]. IDDM normally starts in childhood or adolescence and is caused by the body's own immune system which destroys the insulin-producing beta cells in the pancreas. Classical features are polydipsia, polyphagia and polyuria, due to hyperglycemia-induced osmotic diuresis Genetic variations in PAX4 are associated with susceptibility to ketosis-prone diabetes mellitus (KPD) [MIM:612227]. KPD belongs to a rare subgroup of type 2 diabetes with severe insulin deficiency, mostly observed in subjects of sub-Saharan African ancestry, such as west Africans, Caribbeans and African-Americans. Its phenotype is distinct from the common type 2 and type 1 diabetes. It is characterized by a fulminant initial insulin dependence, without the immunological markers observed in classical type 1 diabetes, followed by a subsequent clinical course which varies from non-insulin treated type 2 diabetes to insulin-dependent idiopathic type 1 diabetes. A severe dysfunction of the insulin-producing beta-cells is attested to by the observation that 25% of the subjects are insulin dependent at diabetes onset, whereas the remaining 75% will develop permanent insulin dependence within 10 years Defects in PAX4 are the cause of maturity-onset diabetes of the young type 9 (MODY9) [MIM:612225]. MODY [MIM:606391] is a form of diabetes mellitus characterized by an autosomal dominant mode of inheritance, age of onset of 25 years or younger and a primary defect in insulin secretion8 Novoseek disease relationships for PAX4 gene
About this table
Human Gene Mutation Database: PAX4 Genetic Association Database: PAX4 Human Genome Epidemiology Navigator: PAX4 (11 documents)
|
Medical News for PAX4(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for PAX4 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/76 PubMed articles for PAX4 gene (see all 76
):- Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. (PubMed id 15834548)1, 3, 4, 6 Biason-Lauber A....Schoenle E.J. (2005)
- PAX4 gene variations predispose to ketosis-prone diabetes. (PubMed id 15509590)1, 3, 4, 6 Mauvais-Jarvis F....Vaisse C. (2004)
- A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese. (PubMed id 11723072)1, 3, 4, 6 Shimajiri Y....Nanjo K. (2001)
- Expression of dominant negative form of PAX4 in human insulinoma. (PubMed id 11263967)1, 3, 4 Miyamoto T....Hashizume K. (2001)
- PAX4 mutations in Thais with maturity onset diabetes of the young. (PubMed id 17426099)1, 3, 4 Plengvidhya N....Banchuin N. (2007)
- Lack of association of PAX4 gene with type 1 diabetes in the Finnish and Hungarian populations. (PubMed id 16123375)1, 3, 6 Hermann R....Ilonen J. (2005)
- PAX4 mutation (R121W) as a prodiabetic variant in Okinawans. (PubMed id 12604352)1, 3, 6 Shimajiri Y....Takasu N. (2003)
- Molecular cloning of mouse paired-box-containing gene (Pax-4) from an islet beta cell line and deduced sequence of human Pax-4. (PubMed id 9439631)1, 3, 4 Matsushita T....Itakura M. (1998)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Isolation and characterization of the human PAX4 gene. (PubMed id 9753306)3, 4 Tao T.... Permutt M.A. (1998)
|
Search for PAX4
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing PAX4
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing PAX4
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PAX4(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for PAX4(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for PAX4:

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