ARNT2
Aryl hydrocarbon receptor nuclear translocator 2
Also known as: ARNT2_HUMAN, bHLHe1, KIAA0307
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9HBZ2
- Gene
- ARNT2
- Ensembl
- ENSG00000172379
- Chromosome
- 15
- Canonical length
- 717 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]
Canonical amino-acid sequenceUniProt
717 residues, UniProt reviewed canonical sequence.
>Q9HBZ2|ARNT2
1 MATPAAVNPP EMASDIPGSV TLPVAPMAAT GQVRMAGAMP ARGGKRRSGM DFDDEDGEGP
61 SKFSRENHSE IERRRRNKMT QYITELSDMV PTCSALARKP DKLTILRMAV SHMKSMRGTG
121 NKSTDGAYKP SFLTEQELKH LILEAADGFL FVVAAETGRV IYVSDSVTPV LNQPQSEWFG
181 STLYEQVHPD DVEKLREQLC TSENSMTGRI LDLKTGTVKK EGQQSSMRMC MGSRRSFICR
241 MRCGNAPLDH LPLNRITTMR KRFRNGLGPV KEGEAQYAVV HCTGYIKAWP PAGMTIPEED
301 ADVGQGSKYC LVAIGRLQVT SSPVCMDMNG MSVPTEFLSR HNSDGIITFV DPRCISVIGY
361 QPQDLLGKDI LEFCHPEDQS HLRESFQQVV KLKGQVLSVM YRFRTKNREW MLIRTSSFTF
421 QNPYSDEIEY IICTNTNVKQ LQQQQAELEV HQRDGLSSYD LSQVPVPNLP AGVHEAGKSV
481 EKADAIFSQE RDPRFAEMFA GISASEKKMM SSASAAGTQQ IYSQGSPFPS GHSGKAFSSS
541 VVHVPGVNDI QSSSSTGQNM SQISRQLNQS QVAWTGSRPP FPGQQIPSQS SKTQSSPFGI
601 GTSHTYPADP SSYSPLSSPA TSSPSGNAYS SLANRTPGFA ESGQSSGQFQ GRPSEVWSQW
661 QSQHHGQQSG EQHSHQQPGQ TEVFQDMLPM PGDPTQGTGN YNIEDFADLG MFPPFSELocalizationUniProt · AlphaFold · HPA
Whether an antibody against ARNT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 98 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 98 nTPM
- basal ganglia: 94 nTPM
- amygdala: 82 nTPM
- hippocampal formation: 76 nTPM
- midbrain: 54 nTPM
- hypothalamus: 49 nTPM
Single-cell type
- ependymal cells: 484 nCPM
- oligodendrocyte progenitor cells: 378 nCPM
- astrocytes: 369 nCPM
- distal convoluted tubule cells: 272 nCPM
- brain inhibitory neurons: 270 nCPM
- bergmann glia: 254 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hippocampal formation: 267 nTPM
- cerebral cortex: 231 nTPM
- basal ganglia: 208 nTPM
- amygdala: 195 nTPM
- thalamus: 179 nTPM
- midbrain: 149 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ARNT2.
Disease | AllUniProt
Conditions ARNT2 is implicated in, by any mechanism.
- Webb-Dattani syndrome (WEDAS) MIM:615926
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 278 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Webb-Dattani syndrome
- Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.29
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 1.98
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- central nervous system development
- in utero embryonic development
- negative regulation of apoptotic process
- positive regulation of cell population proliferation
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- regulation of DNA-templated transcription
- regulation of transcription by RNA polymerase II
- response to estradiol
- response to hypoxia
Molecular functions
- aryl hydrocarbon receptor binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- protein heterodimerization activity
- protein-containing complex binding
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ARNT2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ARNT2 as an antibody target. Whether an autoantibody or antibody against ARNT2 could matter depends on whether native ARNT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ARNT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ARNT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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