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Aliases for NHLH2 Gene

Aliases for NHLH2 Gene

  • Nescient Helix-Loop-Helix 2 2 3 5
  • Nescient Helix Loop Helix 2 2 3 4
  • Class A Basic Helix-Loop-Helix Protein 34 3 4
  • BHLHa34 3 4
  • NSCL-2 3 4
  • HEN-2 3 4
  • HEN2 3 4
  • KIAA0490 4
  • NSCL2 3

External Ids for NHLH2 Gene

Previous HGNC Symbols for NHLH2 Gene

  • HEN2

Previous GeneCards Identifiers for NHLH2 Gene

  • GC01M116792
  • GC01M115261
  • GC01M115527
  • GC01M115726
  • GC01M116091
  • GC01M116180
  • GC01M116378
  • GC01M114236

Summaries for NHLH2 Gene

GeneCards Summary for NHLH2 Gene

NHLH2 (Nescient Helix-Loop-Helix 2) is a Protein Coding gene. Diseases associated with NHLH2 include neuroblastoma. GO annotations related to this gene include protein dimerization activity and RNA polymerase II activating transcription factor binding. An important paralog of this gene is LYL1.

UniProtKB/Swiss-Prot for NHLH2 Gene

  • May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NHLH2 Gene

Genomics for NHLH2 Gene

Regulatory Elements for NHLH2 Gene

Genomic Location for NHLH2 Gene

Chromosome:
1
Start:
115,831,911 bp from pter
End:
115,843,917 bp from pter
Size:
12,007 bases
Orientation:
Minus strand

Genomic View for NHLH2 Gene

Genes around NHLH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NHLH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NHLH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NHLH2 Gene

Proteins for NHLH2 Gene

  • Protein details for NHLH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02577-HEN2_HUMAN
    Recommended name:
    Helix-loop-helix protein 2
    Protein Accession:
    Q02577
    Secondary Accessions:
    • Q5T1P6

    Protein attributes for NHLH2 Gene

    Size:
    135 amino acids
    Molecular mass:
    15018 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein.

neXtProt entry for NHLH2 Gene

Proteomics data for NHLH2 Gene at MOPED

Post-translational modifications for NHLH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NHLH2 Gene

No data available for DME Specific Peptides for NHLH2 Gene

Domains & Families for NHLH2 Gene

Gene Families for NHLH2 Gene

Protein Domains for NHLH2 Gene

Suggested Antigen Peptide Sequences for NHLH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02577

UniProtKB/Swiss-Prot:

HEN2_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with NHLH2: view

Function for NHLH2 Gene

Molecular function for NHLH2 Gene

GENATLAS Biochemistry:
nescient helix loop helix protein 2,coexpressed in neuroblastoma cell line with NHLH1
UniProtKB/Swiss-Prot Function:
May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system.

Gene Ontology (GO) - Molecular Function for NHLH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
genes like me logo Genes that share ontologies with NHLH2: view
genes like me logo Genes that share phenotypes with NHLH2: view

Animal Models for NHLH2 Gene

MGI Knock Outs for NHLH2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NHLH2 Gene

Localization for NHLH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NHLH2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NHLH2 Gene COMPARTMENTS Subcellular localization image for NHLH2 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for NHLH2 Gene

Pathways & Interactions for NHLH2 Gene

SuperPathways for NHLH2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NHLH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045944 positive regulation of transcription from RNA polymerase II promoter TAS 16314316
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity TAS 16314316
genes like me logo Genes that share ontologies with NHLH2: view

No data available for Pathways by source and SIGNOR curated interactions for NHLH2 Gene

Drugs & Compounds for NHLH2 Gene

No Compound Related Data Available

Transcripts for NHLH2 Gene

mRNA/cDNA for NHLH2 Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NHLH2 Gene

Nescient helix loop helix 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NHLH2 Gene

No ASD Table

Relevant External Links for NHLH2 Gene

GeneLoc Exon Structure for
NHLH2
ECgene alternative splicing isoforms for
NHLH2

Expression for NHLH2 Gene

mRNA expression in normal human tissues for NHLH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NHLH2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x8.5), Brain - Cerebellum (x8.0), and Brain - Hypothalamus (x6.2).

Protein differential expression in normal tissues from HIPED for NHLH2 Gene

This gene is overexpressed in CD4 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NHLH2 Gene



SOURCE GeneReport for Unigene cluster for NHLH2 Gene Hs.46296

genes like me logo Genes that share expression patterns with NHLH2: view

Protein tissue co-expression partners for NHLH2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NHLH2 Gene

Orthologs for NHLH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NHLH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NHLH2 35
  • 99.51 (n)
  • 100 (a)
NHLH2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NHLH2 36
  • 97 (a)
OneToOne
NHLH2 35
  • 95.24 (n)
  • 96.99 (a)
dog
(Canis familiaris)
Mammalia NHLH2 35
  • 96.05 (n)
  • 97.78 (a)
NHLH2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nhlh2 36
  • 98 (a)
OneToOne
Nhlh2 16
Nhlh2 35
  • 91.85 (n)
  • 97.78 (a)
oppossum
(Monodelphis domestica)
Mammalia NHLH2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NHLH2 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nhlh2 35
  • 93.09 (n)
  • 97.04 (a)
chicken
(Gallus gallus)
Aves NHLH2 35
  • 83.21 (n)
  • 85.71 (a)
lizard
(Anolis carolinensis)
Reptilia NHLH2 36
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia XHEN1 35
zebrafish
(Danio rerio)
Actinopterygii nhlh2 36
  • 72 (a)
OneToMany
nhlh2 35
  • 70.31 (n)
  • 78.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta HLH4C 36
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-15 36
  • 65 (a)
OneToMany
Species with no ortholog for NHLH2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for NHLH2 Gene

ENSEMBL:
Gene Tree for NHLH2 (if available)
TreeFam:
Gene Tree for NHLH2 (if available)

Paralogs for NHLH2 Gene

Paralogs for NHLH2 Gene

(8) SIMAP similar genes for NHLH2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NHLH2: view

Variants for NHLH2 Gene

Sequence variations from dbSNP and Humsavar for NHLH2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1418664 -- 115,841,469(-) GAATT(C/T)TTTGA upstream-variant-2KB
rs1891508 -- 115,831,989(-) ATCCA(A/G)TGTGT nc-transcript-variant
rs1573105 -- 115,832,794(-) GTATC(A/G)TTACA nc-transcript-variant
rs1970552 -- 115,831,719(-) ggtct(C/T)gaact downstream-variant-500B
rs1970553 -- 115,831,635(-) agccA(A/G)ACAAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for NHLH2 Gene

Variant ID Type Subtype PubMed ID
esv27976 CNV Loss 19812545
nsv831115 CNV Gain 17160897
nsv508559 CNV Loss 20534489

Variation tolerance for NHLH2 Gene

Residual Variation Intolerance Score: 48.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NHLH2 Gene

HapMap Linkage Disequilibrium report
NHLH2
Human Gene Mutation Database (HGMD)
NHLH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NHLH2 Gene

Disorders for NHLH2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NHLH2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards
Search NHLH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NHLH2

Genetic Association Database (GAD)
NHLH2
Human Genome Epidemiology (HuGE) Navigator
NHLH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NHLH2
genes like me logo Genes that share disorders with NHLH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NHLH2 Gene

Publications for NHLH2 Gene

  1. HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma. (PMID: 1528853) Brown L. … Baer R. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3 4 67
  2. LMO3 interacts with neuronal transcription factor, HEN2, and acts as an oncogene in neuroblastoma. (PMID: 15930276) Aoyama M. … Nakagawara A. (Cancer Res. 2005) 3 23
  3. Leptin signaling regulates hypothalamic expression of nescient helix-loop-helix 2 (Nhlh2) through signal transducer and activator 3 (Stat3). (PMID: 24486192) Al Rayyan N. … Good D.J. (Mol. Cell. Endocrinol. 2014) 3
  4. Two single nucleotide polymorphisms in the human nescient helix-loop-helix 2 (NHLH2) gene reduce mRNA stability and DNA binding. (PMID: 23026212) Al Rayyan N. … Good D.J. (Gene 2013) 3
  5. Biochemical and phosphoproteomic analysis of the helix-loop-helix protein E47. (PMID: 22354994) Teachenor R. … Murre C. (Mol. Cell. Biol. 2012) 3

Products for NHLH2 Gene

Sources for NHLH2 Gene

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