Aliases for HIF3A Gene
Aliases for HIF3A Gene
External Ids for HIF3A Gene
- HGNC: 15825
- Entrez Gene: 64344
- Ensembl: ENSG00000124440
- OMIM: 609976
- UniProtKB: Q9Y2N7
Previous GeneCards Identifiers for HIF3A Gene
- GC19P047444
- GC19P047191
- GC19P051476
- GC19P051492
- GC19P046800
- GC19P043228
Summaries for HIF3A Gene
-
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]
GeneCards Summary for HIF3A Gene
HIF3A (Hypoxia Inducible Factor 3 Alpha Subunit) is a Protein Coding gene. Diseases associated with HIF3A include Hypoxia and Extratemporal Epilepsy. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Cellular Senescence. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription coactivator activity. An important paralog of this gene is EPAS1.
UniProtKB/Swiss-Prot for HIF3A Gene
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Acts as a transcriptional regulator in adaptive response to low oxygen tension. Acts as a regulator of hypoxia-inducible gene expression (PubMed:11573933, PubMed:16126907, PubMed:19694616, PubMed:20416395, PubMed:21069422). Functions as an inhibitor of angiogenesis in hypoxic cells of the cornea. Plays a role in the development of the cardiorespiratory system. May also be involved in apoptosis (By similarity).
-
Isoform 2: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation. Also inhibits hypoxia-inducible ARNT-mediated gene expression.
-
Isoform 3: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation.
-
isoform 4: Attenuates the ability of transcription factor HIF1A and EPAS1/HIF2A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation (PubMed:16126907, PubMed:17998805, PubMed:19694616, PubMed:20416395). May act as a tumor suppressor and inhibits malignant cell transformation (PubMed:17998805).
-
Isoform 5: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIF3A Gene
Genomics for HIF3A Gene
Regulatory Elements for HIF3A Gene
Enhancers for HIF3A Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH19G046295 | 1.9 | FANTOM5 Ensembl ENCODE dbSUPER | 15.9 | +3.5 | 3495 | 9.4 | PKNOX1 FOXA2 ZNF133 SIN3A ARID4B ZNF121 GLIS2 KLF7 SP3 SP5 | PPP5C HIF3A ENSG00000269124 FOSB IGFL3 MYPOP IRF2BP1 CCDC8 DACT3 RNU6-924P |
| GH19G046287 | 1.4 | Ensembl ENCODE dbSUPER | 15.9 | -8.0 | -8009 | 3.0 | FOXA2 PKNOX1 ZSCAN4 SIN3A ZBTB40 ZNF121 GATA2 FOS CREM ZNF362 | HIF3A PPP5C IGFL1P2 |
| GH19G046269 | 1.1 | Ensembl ENCODE | 17.4 | -25.6 | -25609 | 3.6 | PKNOX1 ZSCAN4 SIN3A ZNF121 EGR1 BCLAF1 ZNF263 PAF1 POLR2H SSRP1 | HIF3A PRKD2 IGFL1P2 |
| GH19G046371 | 1.5 | FANTOM5 Ensembl ENCODE | 11.3 | +76.0 | 76042 | 3.9 | HDGF NFIB SIN3A ZBTB7B RAD21 YY1 ZNF121 GATA2 FOS RCOR1 | PPP5C HIF3A ENSG00000268810 |
| GH19G046200 | 1.5 | Ensembl ENCODE dbSUPER | 11 | -94.4 | -94396 | 4.0 | PKNOX1 ATF1 ARNT AGO1 YY1 TCF12 ZNF121 ZNF766 ELK1 ZNF143 | LOC93429 IRF2BP1 IGFL1 IGFL2 HIF3A IGFL2-AS1 IGFL1P1 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HIF3A on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HIF3A gene promoter:
Regulatory Element Products
Genomic Location for HIF3A Gene
- Chromosome:
- 19
- Start:
- 46,297,046 bp from pter
- End:
- 46,343,433 bp from pter
- Size:
- 46,388 bases
- Orientation:
- Plus strand
Genomic View for HIF3A Gene
Genes around HIF3A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.32 by Ensembl
- 19q13.32 by Entrez Gene
- 19q13.32 by HGNC
HIF3A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HIF3A Gene
Proteins for HIF3A Gene
-
Protein details for HIF3A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y2N7-HIF3A_HUMAN
- Recommended name:
- Hypoxia-inducible factor 3-alpha
- Protein Accession:
- Q9Y2N7
- B0M185
- B4DNA2
- I6L988
- Q58A43
- Q66K72
- Q8WXA1
- Q96K34
- Q9H7Z9
- Q9HAI2
Protein attributes for HIF3A Gene
- Size:
- 669 amino acids
- Molecular mass:
- 72433 Da
- Quaternary structure:
-
- Isoform 2 interacts (via ODD domain) with VHL (via beta domain) (PubMed:12538644). Isoform 4 interacts with HIF1A; the interaction inhibits the binding of HIF1A to hypoxia-responsive element (HRE) and HIF1A/ARNT-dependent transcriptional activation (PubMed:16126907). Isoform 4 interacts with ARNT; the interaction occurs in a HIF1A- and DNA-binding-independent manner and does not induce HIF1A/ARNT-dependent transcriptional activation (PubMed:16126907). Isoform 4 interacts with EPAS1 (PubMed:17998805). Interacts with BAD, BCL2L2 and MCL1 (By similarity).
- SequenceCaution:
-
- Sequence=AAL69947.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAB13865.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing site.; Evidence={ECO:0000305}; Sequence=BAB14824.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=BAB55324.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAD93355.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAG07185.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
Protein Expression for HIF3A Gene
Post-translational modifications for HIF3A Gene
- In normoxia, hydroxylated on Pro-492 in the oxygen-dependent degradation domain (ODD) by prolyl hydroxylase(s) (PHD). The hydroxylated proline promotes interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation.
- Ubiquitinated; ubiquitination occurs in a VHL- and oxygen-dependent pathway and subsequently targeted for proteasomal degradation.
- Ubiquitination at isoforms=2, 3, 5, 6, 7467 and posLast=570570
- Modification sites at PhosphoSitePlus
Other Protein References for HIF3A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HIF3A
- TA800761JM
- TA800761HM
- TA800761GM
- TA800761FM
- TA800761EM
- TA800761DM
- TA800761CM
- TA800761BM
- TA800761AM
- TA800737JM
- TA800737HM
- TA800737GM
- TA800737FM
- TA800737EM
- TA800737DM
- TA800737CM
- TA800737BM
- TA800737AM
- TA800735JM
- TA800735HM
- TA800735GM
- TA800735FM
- TA800735EM
- TA800735DM
- TA800735CM
- TA800735BM
- TA800735AM
- TA800720JM
- TA800720HM
- TA800720GM
- TA800720FM
- TA800720EM
- TA800720DM
- TA800720CM
- TA800720BM
- TA800720AM
- CF800761
- TA800761
- CF800737
- TA800737
- CF800735
- TA800735
- CF800720
- TA800720
- TA345568
- TA319371
- AP33233PU-N
- AP20606PU-N
- Novus Biologicals Antibodies for HIF3A
-
Abcam antibodies for HIF3A
- Invitrogen Antibodies for HIF3A
- antibodies-online Antibodies for HIF3A: See all 80
- GeneTex HIF3A antibody for HIF3A
-
Santa Cruz Biotechnology (SCBT) Antibodies for HIF3A
Protein Products
-
OriGene Purified Proteins for HIF3A
- Search Origene for MassSpec and Protein Over-expression Lysates for HIF3A
- Origene Custom Protein Services for HIF3A
- antibodies-online Proteins for HIF3A: See all 5
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HIF3A
-
Abcam proteins for HIF3A
Assay Products
- antibodies-online Kits for HIF3A: See all 1
No data available for DME Specific Peptides for HIF3A Gene
Domains & Families for HIF3A Gene
Gene Families for HIF3A Gene
Protein Domains for HIF3A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HIF3A Gene
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for HIF3A Gene
Function for HIF3A Gene
Molecular function for HIF3A Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a transcriptional regulator in adaptive response to low oxygen tension. Acts as a regulator of hypoxia-inducible gene expression (PubMed:11573933, PubMed:16126907, PubMed:19694616, PubMed:20416395, PubMed:21069422). Functions as an inhibitor of angiogenesis in hypoxic cells of the cornea. Plays a role in the development of the cardiorespiratory system. May also be involved in apoptosis (By similarity).
- UniProtKB/Swiss-Prot Function:
- Isoform 2: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation. Also inhibits hypoxia-inducible ARNT-mediated gene expression.
- UniProtKB/Swiss-Prot Function:
- Isoform 3: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation.
- UniProtKB/Swiss-Prot Function:
- isoform 4: Attenuates the ability of transcription factor HIF1A and EPAS1/HIF2A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation (PubMed:16126907, PubMed:17998805, PubMed:19694616, PubMed:20416395). May act as a tumor suppressor and inhibits malignant cell transformation (PubMed:17998805).
- UniProtKB/Swiss-Prot Function:
- Isoform 5: Attenuates the ability of transcription factor HIF1A to bind to hypoxia-responsive elements (HRE) located within the enhancer/promoter of hypoxia-inducible target genes and hence inhibits HRE-driven transcriptional activation.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by hypoxia (at protein level) (PubMed:16775626). Induced by hypoxia (PubMed:16775626). Isoform 2, isoform 3, isoform 4 and isoform 5 are up-regulated by hypoxia in a HIF1A- and EPAS1/HIF2A-dependent manner (PubMed:19694616, PubMed:20416395, PubMed:21069422). Isoform 4 is down-regulated by hypoxia and up-regulated upon restoring normoxia in embryonic kidney cells (PubMed:16126907).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | IBA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | transcription factor activity, sequence-specific DNA binding | IEA | -- |
| GO:0046983 | protein dimerization activity | IEA | -- |
Phenotypes for HIF3A Gene
- MGI mutant phenotypes for HIF3A:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for HIF3A:
Animal Models for HIF3A Gene
- MGI Knock Outs for HIF3A:
-
- Hif3a tm1Mym
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HIF3A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIF3A gene
- Search ViGene Biosciences for HIF3A
CRISPR Products
-
OriGene CRISPR knockouts for HIF3A
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIF3A
- GenScript: Design CRISPR guide RNA sequences for HIF3A
miRNA for HIF3A Gene
- miRTarBase miRNAs that target HIF3A
-
- hsa-mir-1-3p (MIRT023941)
- hsa-mir-485-5p (MIRT054793)
- hsa-mir-210-3p (MIRT054794)
- hsa-mir-6880-5p (MIRT475645)
- hsa-mir-4646-5p (MIRT475646)
- hsa-mir-6081 (MIRT475647)
- hsa-mir-766-5p (MIRT475648)
- hsa-mir-6077 (MIRT475649)
- hsa-mir-4722-5p (MIRT475650)
- hsa-mir-4459 (MIRT475651)
- hsa-mir-6165 (MIRT475652)
- hsa-mir-6859-5p (MIRT475653)
- hsa-mir-3916 (MIRT475654)
- hsa-mir-3125 (MIRT475655)
- hsa-mir-3185 (MIRT560228)
- hsa-mir-1252-5p (MIRT560229)
miRNA Products
- Search ViGene Biosciences for HIF3A
- SwitchGear HIF3A 3' UTR sequence
- SwitchGear HIF3A 3' UTR sequence
- Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIF3A
- Browse OriGene Inhibitory RNA Products For HIF3A
-
ViGene Biosciences ready-to-package AAV shRNAs for HIF3A gene
Cell Line Products
-
Horizon Cell Lines for HIF3A
-
ViGene Biosciences adenoviral particle packaged cDNA for HIF3A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HIF3A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HIF3A gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HIF3A Gene
Localization for HIF3A Gene
Subcellular locations from UniProtKB/Swiss-Prot for HIF3A Gene
- Nucleus. Cytoplasm. Nucleus speckle. Mitochondrion. Note=In the nuclei of all periportal and perivenous hepatocytes. In the distal perivenous zone, detected in the cytoplasm of the hepatocytes. Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner. Colocalizes with BAD in the cytoplasm. Colocalizes with EPAS1 and HIF1A in the nucleus and speckles (By similarity). Localized in the cytoplasm and nuclei under normoxia, but increased in the nucleus under hypoxic conditions (PubMed:19694616). Colocalized with HIF1A in kidney tumors (PubMed:19694616). {ECO:0000250 UniProtKB:Q0VBL6, ECO:0000250 UniProtKB:Q9JHS2, ECO:0000269 PubMed:19694616}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| mitochondrion | 4 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS,IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005829 | cytosol | TAS,IDA | -- |
Pathways & Interactions for HIF3A Gene
Pathways by source for HIF3A Gene
1 GeneTex pathway for HIF3A Gene
1 BioSystems pathway for HIF3A Gene
Interacting Proteins for HIF3A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0001666 | response to hypoxia | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription from RNA polymerase II promoter | IEA | -- |
No data available for SIGNOR curated interactions for HIF3A Gene
Drugs & Compounds for HIF3A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| FG-4592 (ASP1517) | Pharma | HIF prolyl-hydroxylase inhibitor | 0 |
(1) ApexBio Compounds for HIF3A Gene
| Compound | Action | Cas Number |
|---|---|---|
| FG-4592 (ASP1517) | HIF prolyl-hydroxylase inhibitor | 808118-40-3 |
Drug Products
- ApexBio compounds for HIF3A
Transcripts for HIF3A Gene
mRNA/cDNA for HIF3A Gene
- (19) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (142) Selected AceView cDNA sequences:
- (19) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HIF3A Gene
CRISPR Products
-
OriGene CRISPR knockouts for HIF3A
-
Santa Cruz Biotechnology (SCBT) CRISPR for HIF3A
- GenScript: Design CRISPR guide RNA sequences for HIF3A
miRNA Products
- Search ViGene Biosciences for HIF3A
- SwitchGear HIF3A 3' UTR sequence
- SwitchGear HIF3A 3' UTR sequence
- Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HIF3A
- Browse OriGene Inhibitory RNA Products For HIF3A
-
ViGene Biosciences ready-to-package AAV shRNAs for HIF3A gene
Flow Cytometry Products
| 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: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 17a | · | 17b | · | 17c | ^ | 18 | ^ | 19 |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||
| SP2: | - | ||||||||
| SP3: | |||||||||
| SP4: | - | ||||||||
| SP5: | |||||||||
| SP6: | |||||||||
| SP7: | |||||||||
| SP8: | |||||||||
| SP9: | |||||||||
| SP10: | |||||||||
| SP11: |
Expression for HIF3A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
-
Mesoderm (Gastrulation Derivatives)
- Mesothelial Cells Hepatic Mesenchyme
-
Liver (Hepatobiliary System)
- Mesothelial Cells Hepatic Mesenchyme
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
-
Adipose (Muscoskeletal System)
- Mesenchymal Stem Cells Subcutaneous White Adipose
-
Mesenchymal Stem Cells
- Mesenchymal Stem Cells Subcutaneous White Adipose
- Eye (Sensory Organs)
- Lung (Respiratory System)
This gene is overexpressed in Plasma (66.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HIF3A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HIF3A Gene:
HIF3ASOURCE GeneReport for Unigene cluster for HIF3A Gene:
Hs.420830mRNA Expression by UniProt/SwissProt for HIF3A Gene:
Q9Y2N7-HIF3A_HUMAN
Tissue specificity:
Expressed in vascular cells (at protein level) (PubMed:21069422). Expressed in kidney (PubMed:11573933, PubMed:19694616). Expressed in lung epithelial cells (PubMed:16775626). Expressed in endothelial cells (venous and arterial cells from umbilical cord and aortic endothelial cells) and in vascular smooth muscle cells (aorta) (PubMed:21069422). Strongly expressed in the heart, placenta, and skeletal muscle, whereas a weak expression profile was found in the lung, liver, and kidney (PubMed:12538644). Expressed weakly in cell renal cell carcinoma (CC-RCC) compared to normal renal cells (PubMed:16126907). Expression is down-regulated in numerous kidney tumor cells compared to non tumor kidney tissues (PubMed:16126907). Isoform 2 is expressed in heart, placenta, lung, liver, skeletal muscle and pancreas and in numerous cancer cell lines (PubMed:20416395). Isoform 3 and isoform 4 are weakly expressed in heart, placenta, lung, liver, skeletal muscle and pancreas (PubMed:20416395). Isoform 4 is expressed in fetal tissues, such as heart, brain, thymus, lung, liver, skeletal kidney and spleen (PubMed:20416395). Isoform 3 is weakly expressed in fetal tissues, such as liver and kidney (PubMed:20416395).
Evidence on tissue expression from TISSUES for HIF3A Gene
- Nervous system(4.5)
- Heart(4.4)
- Pancreas(4.4)
- Kidney(4.1)
- Spleen(2)
Primer Products
-
OriGene qPCR primer pairs for HIF3A
-
OriGene qPCR primer pairs and template standards for HIF3A
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIF3A Gene
Orthologs for HIF3A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HIF3A 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HIF3A 34 |
|
||
| cow (Bos Taurus) |
Mammalia | HIF3A 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hif3a 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hif3a 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HIF3A 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HIF3A 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | hif1al 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | sima 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | hif-1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for HIF3A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for HIF3A Gene
Paralogs for HIF3A Gene
(8) SIMAP similar genes for HIF3A Gene using alignment to 11 proteins:
Variants for HIF3A Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000045656 | -- | 46,341,269(+) | ATCTC(A/G)GCTCA | utr-variant-3-prime | |
| rs1000051118 | -- | 46,322,705(+) | CAGAG(C/T)GCTGG | intron-variant | |
| rs1000147284 | -- | 46,300,037(+) | AGGGC(A/G)CTGGG | intron-variant | |
| rs1000198527 | -- | 46,299,676(+) | CTGCA(C/T)TCCAG | intron-variant | |
| rs1000208159 | -- | 46,298,175(+) | GGCCT(C/G)ATTGG | intron-variant, upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2573837 | CNV | deletion | 19546169 |
| esv2661691 | CNV | deletion | 23128226 |
| esv2718653 | CNV | deletion | 23290073 |
| esv3556477 | CNV | deletion | 23714750 |
| esv3583441 | CNV | loss | 25503493 |
| esv3644527 | CNV | loss | 21293372 |
Residual Variation Intolerance Score:
87.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.96;
83.99% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HIF3A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- HIF3A
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIF3A Gene
Disorders for HIF3A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypoxia |
|
|
| extratemporal epilepsy |
|
|
Search HIF3A in MalaCards
View complete list of genes associated with diseases
Relevant External Links for HIF3A
No data available for UniProtKB/Swiss-Prot and Genatlas for HIF3A Gene
Publications for HIF3A Gene
- Dominant-negative HIF-3 alpha 4 suppresses VHL-null renal cell carcinoma progression. (PMID: 17998805) Maynard M.A. … Ohh M. (Cell Cycle 2007) 3 4 22 64
- Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex. (PMID: 12538644) Maynard M.A. … Ohh M. (J. Biol. Chem. 2003) 3 4 22 64
- Expression and characterization of hypoxia-inducible factor (HIF)- 3alpha in human kidney: suppression of HIF-mediated gene expression by HIF-3alpha. (PMID: 11573933) Hara S. … Imura N. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 64
- Cell-specific and hypoxia-dependent regulation of human HIF-3I+: inhibition of the expression of HIF target genes in vascular cells. (PMID: 21069422) Augstein A. … Schmeisser A. (Cell. Mol. Life Sci. 2011) 3 4 64
- Hypoxia-inducible factor (HIF)-3alpha is subject to extensive alternative splicing in human tissues and cancer cells and is regulated by HIF-1 but not HIF-2. (PMID: 20416395) Pasanen A. … Myllyharju J. (Int. J. Biochem. Cell Biol. 2010) 3 4 64
Products for HIF3A Gene
- Browse R&D Systems for Antibodies
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- Custom Antibody ServicesOriGene Antibodies for HIF3A
- AP20606PU-N
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- TA319371
- TA345568
- TA800720
- CF800720
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- TA800720AM
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- TA800761AM
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- TA800761EM
- TA800761FM
- TA800761GM
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- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HIF3A
- Search Origene for MassSpec and Protein Over-expression Lysates for HIF3A
- Origene Custom Protein Services for HIF3A
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HIF3A
- Browse OriGene Inhibitory RNA Products For HIF3A
- OriGene qPCR primer pairs and template standards for HIF3A
- OriGene qPCR primer pairs for HIF3A
- OriGene CRISPR knockouts for HIF3A
- OriGene ORF clones in human for HIF3A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HIF3A
- GenScript: Next-day shipping cDNA ORF clone for HIF3A in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HIF3A
- GenScript Custom Assay Services for HIF3A
- GenScript Custom overexpressing Cell Line Services for HIF3A
- GenScript: Design CRISPR guide RNA sequences for HIF3A
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- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for HIF3A
- Novus Biologicals proteins and lysates for HIF3A
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for HIF3A
- Abcam proteins for HIF3A
- Search for Assays for HIF3A at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- Invitrogen Antibodies for HIF3A
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for HIF3A
- antibodies-online Antibodies for HIF3A: See all 80
- antibodies-online Kits for HIF3A: See all 1
- antibodies-online Proteins for HIF3A: See all 5
- Search antibodies-online for peptides
- GeneTex HIF3A antibody for HIF3A
- Search GeneTex for Proteins for HIF3A
- ViGene Biosciences adenoviral particle packaged cDNA for HIF3A gene
- ViGene Biosciences lentiviral particle packaged cDNA for HIF3A gene
- ViGene Biosciences ready-to-package AAV shRNAs for HIF3A gene
- Search ViGene Biosciences for HIF3A
- Santa Cruz Biotechnology (SCBT) Antibodies for HIF3A
- Search Santa Cruz Biotechnology (SCBT) for HIF3A siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HIF3A
- Horizon Cell Lines for HIF3A
- Cyagen custom Knockout/knockin (KOKI) mouse models for HIF3A
- VectorBuilder custom plasmid, inducible vectors for HIF3A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HIF3A
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HIF3A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer