Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BHLHE22 Gene

Aliases for BHLHE22 Gene

  • Basic Helix-Loop-Helix Family Member E22 2 3 5
  • Basic Helix-Loop-Helix Domain Containing, Class B, 5 2 3
  • Class B Basic Helix-Loop-Helix Protein 5 3 4
  • Trinucleotide Repeat Containing 20 2 3
  • BHLHB5 3 4
  • TNRC20 3 4
  • Trinucleotide Repeat-Containing Gene 20 Protein 4
  • Basic Helix-Loop-Helix Family, Member E22 2
  • Class E Basic Helix-Loop-Helix Protein 22 3
  • BHLHe22 4
  • Beta3a 3
  • CAGL85 3
  • Beta3 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

  • This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]

GeneCards Summary for BHLHE22 Gene

BHLHE22 (Basic Helix-Loop-Helix Family Member E22) is a Protein Coding gene. Diseases associated with BHLHE22 include Mental Retardation, X-Linked, Syndromic, Martin-Probst Type and Echolalia. GO annotations related to this gene include protein homodimerization activity and protein dimerization 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). In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal chord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation.

Additional gene information for BHLHE22 Gene

No data available for CIViC summary , 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

Enhancers for BHLHE22 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H064372 1.1 FANTOM5 ENCODE dbSUPER 5.1 -206.8 -206826 2 MXI1 SUZ12 POLR2A CTBP2 MAFK EZH2 BHLHE22 MIR124-2HG MIR124-2
GH08H064371 0.8 FANTOM5 dbSUPER 4.5 -208.2 -208180 0 POLR2A SUZ12 EZH2 BHLHE22 MIR124-2HG LOC102724623
GH08H064575 0.9 Ensembl ENCODE 0.7 -4.1 -4092 1 HDGF CTCF ZNF687 NFIB NR2F1 BACH1 ZNF217 NFIC IKZF1 CTBP2 ENSG00000253800 BHLHE22
GH08H064771 0.3 FANTOM5 2 +191.6 191557 0 CYP7B1 BHLHE22 PIR54141
GH08H064581 0.8 ENCODE 0.7 +0.6 591 2 HDGF SUZ12 ZNF792 MAX BACH1 SIN3A ZNF266 RELA POLR2A ZNF207 CYP7B1 BHLHE22 LOC401463
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BHLHE22 on UCSC Golden Path with GeneCards custom track

Promoters for BHLHE22 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000225277 462 201 SUZ12 NR2F1 POLR2A ZNF341 CTBP2 NBN ZBTB26 TCF7L2 EZH2

Genomic Location for BHLHE22 Gene

Chromosome:
8
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

Genes around BHLHE22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BHLHE22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    Protein attributes for BHLHE22 Gene

    Size:
    381 amino acids
    Molecular mass:
    36997 Da
    Quaternary structure:
    • Interacts with PRDM8.

neXtProt entry for BHLHE22 Gene

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 & Families for BHLHE22 Gene

Gene Families for BHLHE22 Gene

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

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

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

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

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). In the brain, may function as an area-specific transcription factor that regulates the postmitotic acquisition of area identities and elucidate the genetic hierarchy between progenitors and postmitotic neurons driving neocortical arealization. May be required for the survival of a specific population of inhibitory neurons in the superficial laminae of the spinal chord dorsal horn that may regulate pruritis. Seems to play a crucial role in the retinogenesis, in the specification of amacrine and bipolar subtypes. Forms with PRDM8 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation.

Gene Ontology (GO) - Molecular Function for BHLHE22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BHLHE22
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BHLHE22 Gene

Localization for BHLHE22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BHLHE22 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 BHLHE22 gene
Compartment Confidence
nucleus 5
plasma membrane 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BHLHE22 Gene

Pathways & Interactions for BHLHE22 Gene

SuperPathways for BHLHE22 Gene

No Data Available

Interacting Proteins for BHLHE22 Gene

Gene Ontology (GO) - Biological Process for BHLHE22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0007399 nervous system development IEA --
GO:0022008 neurogenesis IEA --
genes like me logo Genes that share ontologies with BHLHE22: view

No data available for Pathways by source and SIGNOR curated interactions for BHLHE22 Gene

Drugs & Compounds for BHLHE22 Gene

No Compound Related Data Available

Transcripts for BHLHE22 Gene

mRNA/cDNA for BHLHE22 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(36) Selected AceView cDNA sequences:
(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

Clone Products

  • Applied Biological Materials Clones for BHLHE22
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x9.8), Brain - Cerebellum (x6.0), Brain - Amygdala (x5.1), and Brain - Cerebellar Hemisphere (x4.9).

Protein differential expression in normal tissues from HIPED for BHLHE22 Gene

This gene is overexpressed in Adipocyte (44.2) and Fetal gut (24.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BHLHE22 Gene



Protein tissue co-expression partners for BHLHE22 Gene

NURSA nuclear receptor signaling pathways regulating expression of BHLHE22 Gene:

BHLHE22

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.

Evidence on tissue expression from TISSUES for BHLHE22 Gene

  • Nervous system(3.5)
  • Blood(2.3)
  • Heart(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with BHLHE22: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BHLHE22 Gene

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 33
  • 96.83 (n)
cow
(Bos Taurus)
Mammalia LOC101902844 33
  • 87.65 (n)
BHLHE22 34
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bhlhe22 33
  • 85.61 (n)
mouse
(Mus musculus)
Mammalia Bhlhe22 33 16 34
  • 85.45 (n)
oppossum
(Monodelphis domestica)
Mammalia BHLHE22 34
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BHLHE22 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bhlhe22 33
  • 72.94 (n)
zebrafish
(Danio rerio)
Actinopterygii bhlhe22 33 34
  • 70.48 (n)
si:ch211-196c10.13 34
  • 35 (a)
ManyToMany
zgc64225 33
fruit fly
(Drosophila melanogaster)
Insecta Oli 34
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-32 34
  • 52 (a)
ManyToMany
hlh-31 34
  • 29 (a)
ManyToMany
Species where no ortholog for BHLHE22 was found in the sources mined by GeneCards:
  • 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

(2) 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
rs763704164 Likely benign 64,581,450(+) GCGGT(-/AGCGGC)AGCGG cds-indel
rs1000055368 -- 64,580,235(+) ACTTG(C/G)GGCCA upstream-variant-2KB
rs1000365268 -- 64,582,716(+) GTATT(C/T)ATTTG utr-variant-3-prime
rs1000481390 -- 64,583,157(+) GTCTA(A/T)TTTAA utr-variant-3-prime
rs1000829920 -- 64,579,294(+) CCCAT(C/G/T)CGGAG upstream-variant-2KB

Variation tolerance for BHLHE22 Gene

Gene Damage Index Score: 4.47; 64.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BHLHE22 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

MalaCards: The human disease database

(2) MalaCards diseases for BHLHE22 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic, martin-probst type
  • deafness-intellectual disability, martin-probst type syndrome
echolalia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BHLHE22

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BHLHE22
genes like me logo Genes that share disorders with BHLHE22: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 ZP … Saunders GF (Genomics 2002) 2 3 4 22 60
  2. Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation. (PMID: 18557763) Stevens JD … Skinner MK (Differentiation; research in biological diversity 2008) 2 3 60
  3. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PMID: 14516699) McLellan AS … Kealey T (Mechanisms of development 2002) 3 4 60
  4. cDNAs with long CAG trinucleotide repeats from human brain. (PMID: 9225980) Margolis RL … Ross CA (Human genetics 1997) 2 3 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 60

Products for BHLHE22 Gene

Sources for BHLHE22 Gene

Content
Loading form....