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Aliases for NHLH2 Gene

Aliases for NHLH2 Gene

  • Nescient Helix-Loop-Helix 2 2 3 5
  • Class A Basic Helix-Loop-Helix Protein 34 3 4
  • Nescient Helix Loop Helix 2 2 4
  • BHLHa34 3 4
  • NSCL-2 3 4
  • HEN-2 3 4
  • HEN2 3 4
  • Helix-Loop-Helix Protein 2 3
  • 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. Gene Ontology (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 NHLH1.

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.

Additional gene information for NHLH2 Gene

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

Genomics for NHLH2 Gene

GeneHancer (GH) Regulatory Elements for NHLH2 Gene

Promoters and enhancers for NHLH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I115837 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 550.4 +5.2 5187 2.6 L3MBTL2 SUZ12 POLR2A BACH1 BMI1 ZFX EZH2 NHLH2 GC01P115841 GC01P115827
GH01I115841 Promoter 0.8 EPDnew 550.8 +2.8 2771 0.1 ZFHX2 GATA3 PKNOX1 POLR2A EZH2 NHLH2 GC01P115841
GH01I115827 Enhancer 1.3 FANTOM5 Ensembl ENCODE 5.6 +14.7 14675 2.9 USF1 ZBTB21 CEBPG ZBTB40 FOSL1 ZFHX2 POLR2A PATZ1 VEZF1 SCRT2 GC01P115827 SLC22A15 CASQ2 ENSG00000237993 ATP1A1 NHLH2 GC01P115841
GH01I115814 Enhancer 0.6 ENCODE 11.3 +28.9 28881 1.5 NCOA3 FOXA1 ZNF217 GATA3 CTBP1 MTA1 FOS FOSL2 SLC22A15 NHLH2 ENSG00000237993 CASQ2 GC01P115827
GH01I115865 Enhancer 0.4 ENCODE 11.4 -22.2 -22224 0.7 CEBPB CEBPG SPI1 NHLH2 SLC22A15 HNRNPA1P43 LOC101928952
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NHLH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NHLH2 gene promoter:

Genomic Locations for NHLH2 Gene

Genomic Locations for NHLH2 Gene
chr1:115,831,911-115,843,917
(GRCh38/hg38)
Size:
12,007 bases
Orientation:
Minus strand
chr1:116,378,998-116,386,538
(GRCh37/hg19)

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

Post-translational modifications for NHLH2 Gene

No Post-translational modifications

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

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

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

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

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.

Phenotypes From GWAS Catalog for NHLH2 Gene

Gene Ontology (GO) - Molecular Function for NHLH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001102 RNA polymerase II activating transcription factor binding IPI 16314316
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:

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NHLH2 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NHLH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005667 transcription factor complex TAS 16314316
genes like me logo Genes that share ontologies with NHLH2: view

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
GO:0007417 central nervous system development TAS 1328219
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for NHLH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NHLH2 Gene:

NHLH2

SOURCE GeneReport for Unigene cluster for NHLH2 Gene:

Hs.46296

Evidence on tissue expression from TISSUES for NHLH2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with NHLH2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia NHLH2 33 34
  • 96.05 (n)
oppossum
(Monodelphis domestica)
Mammalia NHLH2 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NHLH2 33 34
  • 95.24 (n)
rat
(Rattus norvegicus)
Mammalia Nhlh2 33
  • 93.09 (n)
mouse
(Mus musculus)
Mammalia Nhlh2 33 16 34
  • 91.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NHLH2 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves NHLH2 33
  • 83.21 (n)
lizard
(Anolis carolinensis)
Reptilia NHLH2 34
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia XHEN1 33
zebrafish
(Danio rerio)
Actinopterygii nhlh2 33 34
  • 70.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta HLH4C 34
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-15 34
  • 65 (a)
OneToMany
Species where no ortholog for NHLH2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000208582 -- 115,841,179(-) TTTTTTT/TTTTTT upstream_transcript_variant
rs1000289206 -- 115,835,611(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000326314 -- 115,839,313(-) T/G 5_prime_UTR_variant, intron_variant
rs1000380081 -- 115,842,164(-) A/C upstream_transcript_variant
rs1000535764 -- 115,835,801(-) TTTTT/TTTTTT genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv831115 CNV gain 17160897
nsv508559 CNV deletion 20534489
esv3587292 CNV loss 21293372
esv27976 CNV loss 19812545

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)

Additional Variant Information for NHLH2 Gene

Human Gene Mutation Database (HGMD)
NHLH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search NHLH2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NHLH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 58
  2. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. (PMID: 19898481) Raychaudhuri S … Plenge RM (Nature genetics 2009) 3 44 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. LMO3 interacts with neuronal transcription factor, HEN2, and acts as an oncogene in neuroblastoma. (PMID: 15930276) Aoyama M … Nakagawara A (Cancer research 2005) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for NHLH2 Gene

Sources for NHLH2 Gene

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