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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HIF3A Gene

protein-coding   GIFtS: 55
GCID: GC19P046800

hypoxia inducible factor 3, alpha subunit
 Explore 5 diseases affiliated with
HIF3A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HIF3A    

Aliases
for HIF3A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Hypoxia Inducible Factor 3, Alpha Subunit1 2     Member Of PAS Protein 72 3
IPAS1 2 3 5     HIF3-Alpha-11
MOP71 2 3     PAS Domain-Containing Protein 72 3
PASD71 2 3     HIF-3A2
BHLHe171     Hypoxia-Inducible Factor 3-Alpha2
Basic-Helix-Loop-Helix-PAS Protein MOP72 3     BHLHE173
Class E Basic Helix-Loop-Helix Protein 172 3     HIF-3-Alpha1
Inhibitory PAS Domain Protein2 3     HIF3-Alpha1

External Ids:    HGNC: 158251   Entrez Gene: 643442   Ensembl: ENSG000001244407   OMIM: 6099765   UniProtKB: Q9Y2N73   

Export aliases for HIF3A gene to outside databases

Previous GC identifers: GC19P047444 GC19P047191 GC19P051476 GC19P051492 GC19P043228


Summaries
for HIF3A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for HIF3A:
The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric
transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks
the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that
factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple
alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: HIF3A_HUMAN, Q9Y2N7
Function: Involved in adaptive response to hypoxia. Suppresses hypoxia-inducible expression of HIF1A and EPAS1. Binds
to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters. The complex
HIF3A-ARNT activates the transcription of reporter genes driven by HRE. Isoform 4 has a dominant-negative function of
inactivating HIF1A-mediated transcription. Isoform 4 attenuates the binding of HIF1A to hypoxia-responsive elements
(HRE), thus inhibiting HRE-driven transcription. Hypoxia induces down-regulation of isoform 4, leading to activation
of HIF1A in hypoxia. Conversely, upon restoring normoxia, the expression of isoform 4 increases and thereby secure an
inhibition of HIF1A activity. Isoform 4 may be a negative regulator of hypoxia-inducible gene expression in the kidney
and may be involved in renal tumorigenesis. Functions as an inhibitor of angiogenesis in the cornea (By similarity)

Gene Wiki entry for HIF3A


Genomic Views
for HIF3A gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HIF3A gene promoter:
         SREBP-1a   Tal-1beta   SREBP-1b   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): HIF3A promoter sequence
   Search SABiosciences Chromatin IP Primers for HIF3A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HIF3A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13

HIF3A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HIF3A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P046800:  view genomic region     (about GC identifiers)

Start:
 46,800,303 bp from pter      End:
 46,846,690 bp from pter
Size:
 46,388 bases      Orientation:
 plus strand

Proteins
for HIF3A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: HIF3A_HUMAN, Q9Y2N7 (See protein sequence)
Recommended Name: Hypoxia-inducible factor 3-alpha  
Size: 669 amino acids; 72433 Da
Subunit: Heterodimerizes with ARNT. Interacts via the oxygen-dependent degradation domain (ODD) with the beta domain of
VHL
Subcellular location: Nucleus. Cytoplasm. Note=In the nuclei of all periportal and perivenous hepatocytes. In the
distal perivenous zone, detected in the cytoplasm of the hepatocytes (By similarity)
Secondary accessions: B0M185 B4DNA2 Q58A43 Q66K72 Q8WXA1 Q96K34 Q9H7Z9 Q9HAI2
Alternative splicing: 7 isoforms:  Q9Y2N7-1   Q9Y2N7-2   Q9Y2N7-3   Q9Y2N7-4   Q9Y2N7-5   Q9Y2N7-6   Q9Y2N7-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HIF3A: NX_Q9Y2N7

Post-translational modifications:

  • In normoxia, hydroxylated on Pro-492 in the oxygen-dependent degradation domain (ODD) by PHD. The hydroxylated proline
    • promotes interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y2N7

    • HIF3A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_071907.4  NP_690007.1  NP_690008.2  NP_690009.1  

    ENSEMBL proteins: 
     ENSP00000432809   ENSP00000432578   ENSP00000244302   ENSP00000366898   ENSP00000244303  
     ENSP00000435532   ENSP00000435200   ENSP00000434653   ENSP00000432613   ENSP00000291300  
     ENSP00000300862   ENSP00000434700   ENSP00000407771   ENSP00000341877  
    Reactome Protein details: Q9Y2N7
    Human Recombinant Protein Products: 
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    Novus Biologicals HIF3A Protein
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA--


    HIF3A for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for HIF3A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HIF3A for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR013655 PAS_fold_3
     IPR021537 HIF_alpha_subunit
     IPR001610 PAC
     IPR013767 PAS_fold
     IPR000014 PAS

    Graphical View of Domain Structure for InterPro Entry Q9Y2N7

    ProtoNet protein and cluster: Q9Y2N7

    5 Blocks protein families:
    IPB000014 PAS domain
    IPB001067 Nuclear translocator signature
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB001610 PAC motif
    IPB013655 PAS fold-3


    UniProtKB/Swiss-Prot: HIF3A_HUMAN, Q9Y2N7
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 2 PAS (PER-ARNT-SIM) domains


    Function
    for HIF3A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: HIF3A_HUMAN, Q9Y2N7
    Function: Involved in adaptive response to hypoxia. Suppresses hypoxia-inducible expression of HIF1A and EPAS1. Binds
    to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters. The complex
    HIF3A-ARNT activates the transcription of reporter genes driven by HRE. Isoform 4 has a dominant-negative function of
    inactivating HIF1A-mediated transcription. Isoform 4 attenuates the binding of HIF1A to hypoxia-responsive elements
    (HRE), thus inhibiting HRE-driven transcription. Hypoxia induces down-regulation of isoform 4, leading to activation
    of HIF1A in hypoxia. Conversely, upon restoring normoxia, the expression of isoform 4 increases and thereby secure an
    inhibition of HIF1A activity. Isoform 4 may be a negative regulator of hypoxia-inducible gene expression in the kidney
    and may be involved in renal tumorigenesis. Functions as an inhibitor of angiogenesis in the cornea (By similarity)
    Induction: Strongly induced by hypoxia (1% O(2)), both at the level of protein and mRNA due to an increase in protein
    stability and transcriptional activation

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    hsa-miR-100* hsa-let-7d hsa-miR-29a hsa-miR-765 hsa-miR-3916 hsa-miR-570 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): HIF3A 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003704specific RNA polymerase II transcription factor activity ----
    GO:0004871signal transducer activity IEA--
    GO:0046983protein dimerization activity IEA--


    HIF3A for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for HIF3A:
     Increased cell number in G2M,   Synthetic lethal with imatinib 

    Animal Models:
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hif3a):
     cardiovascular system  muscle  respiratory system 

    HIF3A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HIF3A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha
    		Oxygen-dependent Proline Hydroxylation of Hypoxia-inducible Factor Alpha1.00
    		Destruction of Ubiquitinated HIF-alpha by the Proteasome0.67
    		Cellular response to hypoxia0.72
    		Nuclear Export of Ubiquitinated HIF-alpha:VHL:EloB/C:CUL2:RBX1 Complex0.67
    		Cellular responses to stress0.72
    		Hypoxic and oxygen homeostasis regulation of HIF-1-alpha0.27
    		Regulation of Hypoxia-inducible Factor (HIF) by Oxygen0.72
    2Regulation of Gene Expression by Hypoxia-inducible Factor
    		Regulation of Gene Expression by Hypoxia-inducible Factor1.00
    		Formation of HIF:CBP:p300 Complex at Promoters0.67
    3Translocation of HIF-alpha from Cytosol to Nucleus
    		Translocation of HIF-alpha from Cytosol to Nucleus1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for HIF3A 
        Hypoxic and oxygen homeostasis regulation of HIF-1-alpha

    5/9        Reactome Pathways for HIF3A (see all 9)
        Cellular response to hypoxia
    Regulation of Hypoxia-inducible Factor (HIF) by Oxygen
    Translocation of HIF-alpha from Cytosol to Nucleus
    Formation of HIF:CBP:p300 Complex at Promoters
    Cellular responses to stress



    HIF3A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HIF3A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/21 Interacting proteins for HIF3A (Q9Y2N73 ENSP000003668984) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAB4B-EGLN2Q96KS03, ENSP000003070804I2D: score=1 STRING: ENSP00000307080
    EGLN2Q96KS03I2D: score=1 
    EGLN3Q9H6Z93, ENSP000002504574I2D: score=1 STRING: ENSP00000250457
    ARNTP275403, ENSP000003514074I2D: score=1 STRING: ENSP00000351407
    HIF1AQ166653, ENSP000003380184I2D: score=2 STRING: ENSP00000338018
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia ----
    GO:0006351transcription, DNA-dependent ----
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter IEA--
    GO:0033554cellular response to stress TAS--


    HIF3A for ontologies           About GeneDecksing



    Drugs & Compounds
    for HIF3A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HIF3A
    Search CenterWatch for drugs/clinical trials and news about HIF3A 

    Transcripts
    for HIF3A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for HIF3A gene (4 alternative transcripts): 
    NM_022462.4  NM_152794.3  NM_152795.3  NM_152796.2  

    Unigene Cluster for HIF3A:

    Hypoxia inducible factor 3, alpha subunit
    Hs.420830  [show with all ESTs]
    Unigene Representative Sequence: NM_152794
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533789 ENST00000475432(uc002pef.2) ENST00000244302(uc002peg.4)
    ENST00000377670 ENST00000524533 ENST00000244303 ENST00000528563 ENST00000533145
    ENST00000472815(uc002pej.2) ENST00000526506 ENST00000291300 ENST00000300862
    ENST00000525854 ENST00000529205 ENST00000531043 ENST00000529542 ENST00000420102(uc010xxz.2)
    ENST00000339613(uc002peh.3 uc010xxx.2 uc021uwf.1 uc010xxy.2 uc002pel.3)


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    Inhib. RNA
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    Additional cDNA sequence: 

    AB054067.1 AB118749.1 AB295039.1 AF079154.1 AK021421.1 AK021737.1 AK021881.1 AK297828.1 
    AK299699.1 AK314680.1 BC080551.1 

    14 DOTS entries:

    DT.87014382  DT.312390  DT.91692863  DT.91692865  DT.91692857  DT.40296756  DT.95371242  DT.98083597 
    DT.40316103  DT.428442  DT.95257936  DT.92064013  DT.95371241  DT.121444344 

    24/142 AceView cDNA sequences (see all 142):

    BM972872 BU742834 AA346560 NM_152796 BM971722 CA438713 Z39179 NM_152795 
    CR615892 BQ684757 AI075316 CR612598 F05192 AW270837 BM722881 AA359276 
    BQ416614 NM_022462 AB054067 AI281985 BM677920 F06283 AF079154 AA428211 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for HIF3A (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
    SP1:                    -           -     -     -                                                                       -                                   -   
    SP2:                                -     -     -                                                                       -                                   -   
    SP3:              -     -           -     -     -                                                                       -                                       
    SP4:                    -           -     -     -     -                                                                 -                       -     -     -   
    SP5:              -     -           -     -     -                                                                                                               

    ExUns: 17a · 17b · 17c ^ 18 ^ 19
    SP1:                              
    SP2:                    -         
    SP3:                              
    SP4:  -                           
    SP5:                              


    ECgene alternative splicing isoforms for HIF3A

    Expression
    for HIF3A gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HIF3A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACAGGCACG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HIF3A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Yolk SacDefinitive Yolk SacErythroid Progenitor CellsBlood
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Alveolar type II cells (Derivation of mature...)Lung

    See HIF3A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HIF3A

    SOURCE GeneReport for Unigene cluster: Hs.420830

    UniProtKB/Swiss-Prot: HIF3A_HUMAN, Q9Y2N7
    Tissue specificity: Expressed in kidney. Expressed abundantly in lung epithelial cells. Expression is regulated in an
    oxygen-dependent manner

        SABiosciences Expression via Pathway-Focused PCR Array including HIF3A: 
              Hypoxia Signaling Pathway in human mouse rat

    Primer
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    Orthologs
    for HIF3A gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for HIF3A gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia HIF3A6
    		 --
    		 56(a)
    		 1 ↔ 1
    		 GL343568.1(194964-233742)
    zebrafish
    (Danio rerio)    		 Actinopterygii hif1al1 hypoxia-inducible factor 1, alpha subunit, like 57.5(n)
    50.72(a)    		   393376  NM_200405.1  NP_956699.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta sima6
    		 similar
    		 12(a)
    		 1 → many
    		 3R(25884037-25947101)
    worm
    (Caenorhabditis elegans)    		 Secernentea hlh-346
    hif-16
    		 Helix-loop-helix 34
    HIF (hypoxia inducible factor) homolog family memb...
    		 26(a)
    15(a)
    		 possible ortholog
    1 ↔ many
    		 V(13705963-13707347)
    V(20780380-20785227)


    ENSEMBL Gene Tree for HIF3A (if available)
    TreeFam Gene Tree for HIF3A (if available) 

    Paralogs
    for HIF3A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HIF3A gene
    ARNT22  CLOCK2  NPAS22  ARNT2  EPAS12  HIF1A2  NPAS32  SIM22  
    ARNTL2  SIM12  ARNTL22  NPAS12  
    8 SIMAP similar genes for HIF3A using alignment to 11 protein entries:     HIF3A_HUMAN (see all proteins):
    HIF-1A    EPAS1    HIF1A    CLOCK    NPAS2    NPAS3
    NPAS4    AHRR

    HIF3A for paralogs           About GeneDecksing



    Genomic Variants
    for HIF3A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/990 NCBI SNPs in HIF3A are shown (see all 990)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1164789281,2
    		C,Fother43243882(+) TTTCTC/TTCCCC 4 -- int11Minor allele frequency- T:0.02EU 385
    rs1422482331,2
    		C,Fother43260765(+) TGCTCG/AGAGCT 7 /Q /R mis1 int11Minor allele frequency- A:0.00NA 4518
    rs1139494441,2
    		C,--43226550(+) CCATGG/ACCGGC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs739406551,2
    		C,--43227004(+) CCTAAC/TGGTTT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs743510861,2
    		C,F,--43227237(+) ACTGGC/TGTGAG 1 -- us2k11Minor allele frequency- T:0.12WA 118
    rs758351721,2
    		--43227314(+) CCTAAA/GGTGAG 1 -- us2k10--------
    rs764747771,2
    		F,--43227590(+) TTGACA/CTAAGC 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs286769531,2
    		F,--43227615(+) ATGGGA/CACCTG 1 -- us2k11Minor allele frequency- C:0.05WA 118
    rs38267961,2
    		C,F,--43227843(-) GTACCC/ACACAT 3 -- us2k12Minor allele frequency- A:0.11NA EA 240
    rs773220091,2
    		F,--43227901(+) GAAGGG/TGTGGG 3 -- us2k11Minor allele frequency- T:0.02EA 120

    HapMap Linkage Disequilibrium report for HIF3A (46800303 - 46846690 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HIF3A
         1 CNV: 102852

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    Disorders / Diseases
    for HIF3A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HIF3A for disorders           About GeneDecksing

    OMIM gene information: 609976    OMIM disorders: --

    5 diseases for HIF3A:    About MalaCards
    hypoxia    extratemporal epilepsy    renal cell carcinoma    shigellosis
    carcinoma

    1 disease from the University of Copenhagen DISEASES database for HIF3A:
    Extratemporal epilepsy
    Human Genome Epidemiology (HuGE) Navigator: HIF3A (1 document)

    Export disorders for HIF3A gene to outside databases

    Publications
    for HIF3A gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HIF3A gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with HIF3A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression and characterization of hypoxia-inducible factor (HIF)- 3alpha in human kidney: suppression of HIF-mediated gene expression by HIF-3alpha. (PubMed id 11573933)1, 2, 3 Hara S.... Imura N. (2001)
    2. Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex. (PubMed id 12538644)1, 2, 9 Maynard M.A.... Ohh M. (2003)
    3. Hypoxia upregulates hypoxia inducible factor (HIF)-3alpha expression in lung epithelial cells: characterization and comparison with HIF- 1alpha. (PubMed id 16775626)1, 2 Li Q.F.... Lin H. (2006)
    4. Human HIF-3alpha4 is a dominant-negative regulator of HIF-1 and is down-regulated in renal cell carcinoma. (PubMed id 16126907)1, 2 Maynard M.A.... Ohh M. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Inhibitory PAS domain protein is a negative regulator of hypoxia-inducible gene expression. (PubMed id 11734856)1, 3 Makino Y....Poellinger L. (2001)
    7. Binding and regulation of hypoxia-inducible factor-1 by the inhibitory PAS proteins. (PubMed id 16182248)1, 9 Jang M.S....Cho S. (2005)
    8. Dominant-negative HIF-3 alpha 4 suppresses VHL-null renal cell carcinoma progression. (PubMed id 17998805)1, 9 Maynard M.A....Ohh M. (2007)
    9. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    10. Roles of the human hypoxia-inducible factor (HIF)-3I+ variants in the hypoxia response. (PubMed id 21479871)1 HeikkilAo M....Myllyharju J. (2011)

    External Searches for HIF3A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HIF3A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64344 HGNC: 15825 AceView: HIF3A Ensembl:ENSG00000124440 euGenes: HUgn64344
    ECgene: HIF3A H-InvDB: HIF3A

    Other Databases showing HIF3A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HIF3A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HIF3A Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Hypoxia_inducible_factor

    Intellectual Property
    for HIF3A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for HIF3A gene:
    Search GeneIP for patents involving HIF3A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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