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Aliases for BHLHE22 Gene

Aliases for BHLHE22 Gene

  • Basic Helix-Loop-Helix Family, Member E22 2 3
  • BHLHB5 3 4 6
  • Basic Helix-Loop-Helix Domain Containing, Class B, 5 2 3
  • Trinucleotide Repeat-Containing Gene 20 Protein 3 4
  • Class B Basic Helix-Loop-Helix Protein 5 3 4
  • Trinucleotide Repeat Containing 20 2 3
  • TNRC20 3 4
  • Beta3 3 6
  • Class E Basic Helix-Loop-Helix Protein 22 3
  • BHLHe22 4
  • CAGL85 3

External Ids for BHLHE22 Gene

Previous HGNC Symbols for BHLHE22 Gene

  • TNRC20
  • BHLHB5

Previous GeneCards Identifiers for BHLHE22 Gene

  • GC08P065656
  • GC08P065492
  • GC08P060983

Summaries for BHLHE22 Gene

Entrez Gene Summary for BHLHE22 Gene

  • BHLHE22 belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. These proteins function as dimers and bind to an E-box DNA sequence (CANNTG). BHLHE22 is expressed exclusively in the central nervous system and retina (Xu et al., 2002 [PubMed 12213201]).[supplied by OMIM, Jul 2010]

GeneCards Summary for BHLHE22 Gene

BHLHE22 (Basic Helix-Loop-Helix Family, Member E22) is a Protein Coding gene. GO annotations related to this gene include protein homodimerization activity and sequence-specific DNA binding RNA polymerase II transcription factor activity. An important paralog of this gene is BHLHE23.

UniProtKB/Swiss-Prot for BHLHE22 Gene

  • Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BHLHE22 Gene

Genomics for BHLHE22 Gene

Regulatory Elements for BHLHE22 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BHLHE22 Gene

Start:
64,580,238 bp from pter
End:
64,583,634 bp from pter
Size:
3,397 bases
Orientation:
Plus strand

Genomic View for BHLHE22 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BHLHE22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BHLHE22 Gene

Proteins for BHLHE22 Gene

  • Protein details for BHLHE22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFJ8-BHE22_HUMAN
    Recommended name:
    Class E basic helix-loop-helix protein 22
    Protein Accession:
    Q8NFJ8
    Secondary Accessions:

    Protein attributes for BHLHE22 Gene

    Size:
    381 amino acids
    Molecular mass:
    36997 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BHLHE22 Gene

Proteomics data for BHLHE22 Gene at MOPED

Post-translational modifications for BHLHE22 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BHLHE22 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BHLHE22 Gene

Domains for BHLHE22 Gene

Gene Families for BHLHE22 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for BHLHE22 Gene

Suggested Antigen Peptide Sequences for BHLHE22 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFJ8

UniProtKB/Swiss-Prot:

BHE22_HUMAN :
  • Q8NFJ8
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with BHLHE22: view

Function for BHLHE22 Gene

Molecular function for BHLHE22 Gene

UniProtKB/Swiss-Prot Function: Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA (By similarity).

Gene Ontology (GO) - Molecular Function for BHLHE22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding --
GO:0042803 protein homodimerization activity IEA --
GO:0046983 protein dimerization activity --
genes like me logo Genes that share ontologies with BHLHE22: view
genes like me logo Genes that share phenotypes with BHLHE22: view

Animal Models for BHLHE22 Gene

MGI Knock Outs for BHLHE22:

Animal Model Products

CRISPR Products

miRNA for BHLHE22 Gene

miRTarBase miRNAs that target BHLHE22

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BHLHE22

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for BHLHE22 Gene

Localization for BHLHE22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BHLHE22 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BHLHE22 Gene COMPARTMENTS Subcellular localization image for BHLHE22 gene
Compartment Confidence
nucleus 4
cytosol 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BHLHE22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with BHLHE22: view

Pathways for BHLHE22 Gene

SuperPathways for BHLHE22 Gene

No Data Available

Interacting Proteins for BHLHE22 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000318799%0d%0a9606.ENSP00000331057%0d%0a9606.ENSP00000262965%0d%0a9606.ENSP00000346440%0d%0a9606.ENSP00000317333%0d%0a
Selected Interacting proteins: ENSP00000318799 for BHLHE22 Gene via STRING

Gene Ontology (GO) - Biological Process for BHLHE22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0021540 corpus callosum morphogenesis IEA --
GO:0021796 cerebral cortex regionalization IEA --
GO:0021952 central nervous system projection neuron axonogenesis --
genes like me logo Genes that share ontologies with BHLHE22: view

No data available for Pathways by source for BHLHE22 Gene

Transcripts for BHLHE22 Gene

mRNA/cDNA for BHLHE22 Gene

(36) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BHLHE22 Gene

Basic helix-loop-helix family, member e22:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BHLHE22

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for BHLHE22

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BHLHE22 Gene

No ASD Table

Relevant External Links for BHLHE22 Gene

GeneLoc Exon Structure for
BHLHE22
ECgene alternative splicing isoforms for
BHLHE22

Expression for BHLHE22 Gene

mRNA expression in normal human tissues for BHLHE22 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BHLHE22 Gene

This gene is overexpressed in Brain - Hippocampus (9.8), Brain - Cerebellum (6.0), Brain - Amygdala (5.1), and Brain - Cerebellar Hemisphere (4.9).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for BHLHE22 Gene

SOURCE GeneReport for Unigene cluster for BHLHE22 Gene Hs.591870

mRNA Expression by UniProt/SwissProt for BHLHE22 Gene

Q8NFJ8-BHE22_HUMAN
Tissue specificity: Brain-specific, with the highest expression in the cerebellum.
genes like me logo Genes that share expressions with BHLHE22: view

In Situ Assay Products

Orthologs for BHLHE22 Gene

This gene was present in the common ancestor of animals.

Orthologs for BHLHE22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BHLHE22 35
  • 96.83 (n)
  • 94.97 (a)
cow
(Bos Taurus)
Mammalia BHLHE22 36
  • 83 (a)
OneToOne
LOC101902844 35
  • 87.65 (n)
  • 87.65 (a)
mouse
(Mus musculus)
Mammalia Bhlhe22 35
  • 85.45 (n)
  • 90.14 (a)
Bhlhe22 16
Bhlhe22 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BHLHE22 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bhlhe22 35
  • 85.61 (n)
  • 90.91 (a)
lizard
(Anolis carolinensis)
Reptilia BHLHE22 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bhlhe22 35
  • 72.94 (n)
  • 75.28 (a)
zebrafish
(Danio rerio)
Actinopterygii bhlhe22 35
  • 70.48 (n)
  • 73.88 (a)
bhlhe22 36
  • 54 (a)
ManyToMany
si:ch211-196c10.13 36
  • 35 (a)
ManyToMany
zgc64225 35
fruit fly
(Drosophila melanogaster)
Insecta Oli 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-31 36
  • 29 (a)
ManyToMany
hlh-32 36
  • 52 (a)
ManyToMany
Species with no ortholog for BHLHE22:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for BHLHE22 Gene

ENSEMBL:
Gene Tree for BHLHE22 (if available)
TreeFam:
Gene Tree for BHLHE22 (if available)

Paralogs for BHLHE22 Gene

Paralogs for BHLHE22 Gene

Selected SIMAP similar genes for BHLHE22 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BHLHE22: view

Variants for BHLHE22 Gene

Sequence variations from dbSNP and Humsavar for BHLHE22 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs4737675 -- 64,579,514(+) GTTTT(C/T)TTCCT upstream-variant-2KB
rs7016250 - 64,580,872(+) CCACC(G/T)CCAAG missense, reference
rs9650210 -- 64,583,502(+) GTTGG(A/C)GGGTT utr-variant-3-prime
rs13279074 -- 64,581,107(+) AGTAG(G/T)TTCAG reference, missense
rs16931326 -- 64,582,776(+) GTCAT(A/G)GGTCT utr-variant-3-prime

Relevant External Links for BHLHE22 Gene

HapMap Linkage Disequilibrium report
BHLHE22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BHLHE22 Gene

Disorders for BHLHE22 Gene

No disorders were found for BHLHE22 Gene.

No data available for UniProtKB/Swiss-Prot for BHLHE22 Gene

Publications for BHLHE22 Gene

  1. Functional and structural characterization of the human gene BHLHB5, encoding a basic helix-loop-helix transcription factor. (PMID: 12213201) Xu Z.-P. … Saunders G.F. (Genomics 2002) 2 3 4 23
  2. cDNAs with long CAG trinucleotide repeats from human brain. (PMID: 9225980) Margolis R.L. … Ross C.A. (Hum. Genet. 1997) 2 3
  3. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PMID: 14516699) McLellan A.S. … Kealey T. (Mech. Dev. 2002) 3 4
  4. Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation. (PMID: 18557763) Stevens J.D. … Skinner M.K. (Differentiation 2008) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for BHLHE22 Gene

Sources for BHLHE22 Gene

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