UniProtKB - Q02577 (HEN2_HUMAN)
Helix-loop-helix protein 2
NHLH2
Functioni
Transcription factor which binds the E box motif 5'-CA[TC][AG]TG-3'. Involved in regulating energy expenditure, body mass, voluntary physical activity, mating behavior and reproductive longevity, acting through the hypothalamic-pituitary-gonadal axis. Acts as a transcriptional activator of target genes, including NDN and PCSK1. May act centrally to regulate function of both white and brown adipose tissue. Together with NHLH1, required to maintain migration and survival of cells in the anterior extramural migration stream (aes), which forms the precerebellar nuclei. Also, in concert with NHLH1, may determine fate of gonadotropin releasing hormone-1 (GnRH-1) neurons.
By similarityGO - Molecular functioni
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- protein dimerization activity Source: InterPro
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCL
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- apoptotic process Source: Ensembl
- cell migration in hindbrain Source: Ensembl
- central nervous system development Source: ProtInc
- hypothalamus gonadotrophin-releasing hormone neuron development Source: Ensembl
- male gonad development Source: Ensembl
- male mating behavior Source: Ensembl
- ovulation cycle Source: Ensembl
- peripheral nervous system development Source: Ensembl
- positive regulation of DNA-binding transcription factor activity Source: BHF-UCL
- positive regulation of transcription by RNA polymerase II Source: BHF-UCL
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q02577 |
SignaLinki | Q02577 |
SIGNORi | Q02577 |
Names & Taxonomyi
Protein namesi | Recommended name: Helix-loop-helix protein 2Short name: HEN-2 Alternative name(s): Class A basic helix-loop-helix protein 34 Short name: bHLHa34 Nescient helix loop helix 2 Short name: NSCL-2 |
Gene namesi | Name:NHLH2 Synonyms:BHLHA34, HEN2, KIAA0490 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7818, NHLH2 |
MIMi | 162361, gene |
neXtProti | NX_Q02577 |
VEuPathDBi | HostDB:ENSG00000177551 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nucleus Source: UniProtKB-SubCell
Other locations
- chromatin Source: NTNU_SB
- transcription regulator complex Source: BHF-UCL
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 4808 |
OpenTargetsi | ENSG00000177551 |
PharmGKBi | PA31620 |
Miscellaneous databases
Pharosi | Q02577, Tbio |
Genetic variation databases
BioMutai | NHLH2 |
DMDMi | 399887 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000127199 | 1 – 135 | Helix-loop-helix protein 2Add BLAST | 135 |
Proteomic databases
MassIVEi | Q02577 |
PaxDbi | Q02577 |
PeptideAtlasi | Q02577 |
PRIDEi | Q02577 |
PTM databases
iPTMneti | Q02577 |
PhosphoSitePlusi | Q02577 |
Expressioni
Gene expression databases
Bgeei | ENSG00000177551, Expressed in cerebral cortex and 100 other tissues |
ExpressionAtlasi | Q02577, baseline and differential |
Genevisiblei | Q02577, HS |
Organism-specific databases
HPAi | ENSG00000177551, Group enriched (brain, esophagus, retina, skin) |
Interactioni
Subunit structurei
Homodimer.
Interacts and may form heterodimers with STAT3.
By similarityBinary interactionsi
Q02577
GO - Molecular functioni
- protein dimerization activity Source: InterPro
- RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 110873, 25 interactors |
CORUMi | Q02577 |
IntActi | Q02577, 6 interactors |
STRINGi | 9606.ENSP00000358519 |
Miscellaneous databases
RNActi | Q02577, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 77 – 129 | bHLHPROSITE-ProRule annotationAdd BLAST | 53 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 80 | DisorderedSequence analysisAdd BLAST | 80 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 9 – 23 | Polar residuesSequence analysisAdd BLAST | 15 |
Phylogenomic databases
eggNOGi | KOG4029, Eukaryota |
GeneTreei | ENSGT00940000162602 |
HOGENOMi | CLU_148882_1_0_1 |
InParanoidi | Q02577 |
OMAi | RSCCASD |
PhylomeDBi | Q02577 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR040238, TAL-like |
PANTHERi | PTHR13864, PTHR13864, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
10 20 30 40 50
MMLSPDQAAD SDHPSSAHSD PESLGGTDTK VLGSVSDLEP VEEAEGDGKG
60 70 80 90 100
GSRAALYPHP QQLSREEKRR RRRATAKYRS AHATRERIRV EAFNLAFAEL
110 120 130
RKLLPTLPPD KKLSKIEILR LAICYISYLN HVLDV
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA6PVY9 | A6PVY9_HUMAN | Helix-loop-helix protein 2 | NHLH2 | 107 | Annotation score: |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M97508 Genomic DNA Translation: AAA58635.1 AB007959 mRNA No translation available. AL449264 Genomic DNA No translation available. BC096359 mRNA Translation: AAH96359.1 BC096360 mRNA Translation: AAH96360.1 |
CCDSi | CCDS885.1 |
PIRi | B45075 |
RefSeqi | NP_001104531.1, NM_001111061.1 NP_005590.1, NM_005599.3 |
Genome annotation databases
Ensembli | ENST00000320238.3; ENSP00000322087.3; ENSG00000177551.5 ENST00000369506.1; ENSP00000358519.1; ENSG00000177551.5 |
GeneIDi | 4808 |
KEGGi | hsa:4808 |
MANE-Selecti | ENST00000320238.3; ENSP00000322087.3; NM_005599.3; NP_005590.1 |
UCSCi | uc001efy.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M97508 Genomic DNA Translation: AAA58635.1 AB007959 mRNA No translation available. AL449264 Genomic DNA No translation available. BC096359 mRNA Translation: AAH96359.1 BC096360 mRNA Translation: AAH96360.1 |
CCDSi | CCDS885.1 |
PIRi | B45075 |
RefSeqi | NP_001104531.1, NM_001111061.1 NP_005590.1, NM_005599.3 |
3D structure databases
AlphaFoldDBi | Q02577 |
SMRi | Q02577 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110873, 25 interactors |
CORUMi | Q02577 |
IntActi | Q02577, 6 interactors |
STRINGi | 9606.ENSP00000358519 |
PTM databases
iPTMneti | Q02577 |
PhosphoSitePlusi | Q02577 |
Genetic variation databases
BioMutai | NHLH2 |
DMDMi | 399887 |
Proteomic databases
MassIVEi | Q02577 |
PaxDbi | Q02577 |
PeptideAtlasi | Q02577 |
PRIDEi | Q02577 |
Protocols and materials databases
Antibodypediai | 33870, 192 antibodies from 24 providers |
DNASUi | 4808 |
Genome annotation databases
Ensembli | ENST00000320238.3; ENSP00000322087.3; ENSG00000177551.5 ENST00000369506.1; ENSP00000358519.1; ENSG00000177551.5 |
GeneIDi | 4808 |
KEGGi | hsa:4808 |
MANE-Selecti | ENST00000320238.3; ENSP00000322087.3; NM_005599.3; NP_005590.1 |
UCSCi | uc001efy.4, human |
Organism-specific databases
CTDi | 4808 |
DisGeNETi | 4808 |
GeneCardsi | NHLH2 |
HGNCi | HGNC:7818, NHLH2 |
HPAi | ENSG00000177551, Group enriched (brain, esophagus, retina, skin) |
MIMi | 162361, gene |
neXtProti | NX_Q02577 |
OpenTargetsi | ENSG00000177551 |
PharmGKBi | PA31620 |
VEuPathDBi | HostDB:ENSG00000177551 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4029, Eukaryota |
GeneTreei | ENSGT00940000162602 |
HOGENOMi | CLU_148882_1_0_1 |
InParanoidi | Q02577 |
OMAi | RSCCASD |
PhylomeDBi | Q02577 |
Enzyme and pathway databases
PathwayCommonsi | Q02577 |
SignaLinki | Q02577 |
SIGNORi | Q02577 |
Miscellaneous databases
BioGRID-ORCSi | 4808, 17 hits in 1092 CRISPR screens |
GenomeRNAii | 4808 |
Pharosi | Q02577, Tbio |
PROi | PR:Q02577 |
RNActi | Q02577, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000177551, Expressed in cerebral cortex and 100 other tissues |
ExpressionAtlasi | Q02577, baseline and differential |
Genevisiblei | Q02577, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf IPR040238, TAL-like |
PANTHERi | PTHR13864, PTHR13864, 1 hit |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | HEN2_HUMAN | |
Accessioni | Q02577Primary (citable) accession number: Q02577 Secondary accession number(s): Q5T1P6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
Last sequence update: | July 1, 1993 | |
Last modified: | May 25, 2022 | |
This is version 184 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot