Gene Gene information from NCBI Gene database.
Entrez ID 64344
Gene name Hypoxia inducible factor 3 subunit alpha
Gene symbol HIF3A
Synonyms (NCBI Gene)
HIF-3AHIF3-alpha-1IPASMOP7PASD7bHLHe17
Chromosome 19
Chromosome location 19q13.32
Summary 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 fo
miRNA miRNA information provided by mirtarbase database.
233
miRTarBase ID miRNA Experiments Reference
MIRT023941 hsa-miR-1-3p Microarray 18668037
MIRT054793 hsa-miR-485-5p Luciferase reporter assayWestern blotqRT-PCR 24927770
MIRT054794 hsa-miR-210-3p Luciferase reporter assayWestern blotqRT-PCR 24927770
MIRT475655 hsa-miR-3125 PAR-CLIP 20371350
MIRT475654 hsa-miR-3916 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 31768607
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 31768607
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609976 15825 ENSG00000124440
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2N7
Protein name Hypoxia-inducible factor 3-alpha (HIF-3-alpha) (HIF3-alpha) (Basic-helix-loop-helix-PAS protein MOP7) (Class E basic helix-loop-helix protein 17) (bHLHe17) (HIF3-alpha-1) (Inhibitory PAS domain protein) (IPAS) (Member of PAS protein 7) (PAS domain-contain
Protein 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 inhib
PDB 4WN5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00989 PAS 89 176 PAS fold Domain
PF08447 PAS_3 251 338 PAS fold Domain
PF11413 HIF-1 478 509 Hypoxia-inducible factor-1 Family
Tissue specificity 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 f
Sequence
MALGLQRARSTTELRKEKSRDAARSRRSQETEVLYQLAHTLPFARGVSAHLDKASIMRLT
ISYLRMHRLCAAGEWNQVGAGGEPLDACYLKALEGFVMVLTAEGDMAYLSENVSKHLGLS
QLELIGHSIFDFIHPCDQEELQDALTPQQTLSRRKVEAPTERCFSLRMKSTLTSRG
RTLN
LKAATWKVLNCSGHMRAYKPPAQTSPAGSPDSEPPLQCLVLICEAIPHPGSLEPPLGRGA
FLSRHSLDMKFTYCDDRIAEVAGYSPDDLIGCSAYEYIHALDSDAVSKSIHTLLSKGQAV
TGQYRFLARSGGYLWTQTQATVVSGGRGPQSESIVCVH
FLISQVEETGVVLSLEQTEQHS
RRPIQRGAPSQKDTPNPGDSLDTPGPRILAFLHPPSLSEAALAADPRRFCSPDLRRLLGP
ILDGASVAATPSTPLATRHPQSPLSADLPDELPVGTENVHRLFTSGKDTEAVETDLDIAQ
DADALDLEMLAPYISMDDDFQLNASEQLP
RAYHRPLGAVPRPRARSFHGLSPPALEPSLL
PRWGSDPRLSCSSPSRGDPSASSPMAGARKRTLAQSSEDEDEGVELLGVRPPKRSPSPEH
ENFLLFPLSLSFLLTGGPAPGSLQDPSTPLLNLNEPLGLGPSLLSPYSDEDTTQPGGPFQ
PRAGSAQAD
Sequence length 669
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of gene expression by Hypoxia-inducible Factor
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Transcriptional regulation of pluripotent stem cells
Neddylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ARTHROGRYPOSIS, DISTAL, TYPE 2B Sheldon-Hall syndrome BEFREE 25340332
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 25935004 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 34245041 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31595977
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 26174816 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Ischemic stroke Pubtator 33226577 Associate
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 29953500 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Periodontitis Periodontitis Pubtator 33604388 Associate
★☆☆☆☆
Found in Text Mining only
Congenital contractural arachnodactyly Congenital Contractural Arachnodactyly BEFREE 29953500
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 17998805
★☆☆☆☆
Found in Text Mining only