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 p... See more...

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 E Basic Helix-Loop-Helix Protein 22 3 4
  • Class B Basic Helix-Loop-Helix Protein 5 3 4
  • Trinucleotide Repeat Containing 20 2 3
  • BHLHB5 3 4
  • CAGL85 2 3
  • TNRC20 3 4
  • Beta3 2 3
  • Trinucleotide Repeat-Containing Gene 20 Protein 4
  • Basic Helix-Loop-Helix Family, Member E22 2
  • BHLHE22 5
  • BHLHe22 4
  • Beta3a 3
  • BHLHb5 4

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 Hermansky-Pudlak Syndrome 2 and Phosphoglycerate Dehydrogenase Deficiency. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for BHLHE22 Gene

Genomics for BHLHE22 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BHLHE22 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
GH08J064579 Promoter/Enhancer 1.1 Ensembl ENCODE 600.7 +0.6 624 2.8 POLR2A BACH1 LARP7 RELA RCOR1 EZH2 ZNF341 ZNF792 ZBTB20 SIN3A 5MWI_A-169 BHLHE22 ENSG00000254102 LOC401463 CYP7B1 RF00017-7081
GH08J064581 Enhancer 0.9 UCNEbase Ensembl ENCODE 600.7 -1.7 -1705 0.9 POLR2A EZH2 MLLT1 BHLHE22 ENSG00000254102 LOC401463 ENSG00000253800 lnc-CYP7B1-7 RF00017-7081
GH08J064372 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.1 -206.0 -206011 4.1 REST POLR2A EZH2 RAD21 MAFF MAFK YY1 ETS1 SIN3A CBX8 MIR124-2HG BHLHE22 MIR124-2
GH08J064632 Enhancer 0.6 Ensembl 10.9 +52.3 52336 1.4 ARID3A DPF2 RUNX3 NBN JUNB BATF ATF7 ESRRA ZNF217 ZNF24 ENSG00000254102 BHLHE22 piR-43099-574 RF00017-7081 CYP7B1
GH08J064609 Enhancer 0.5 Ensembl 11.9 +29.8 29836 0.8 NFE2 MAFF MAFK MAFG BACH1 NFE2L2 BHLHE22 ENSG00000254102 piR-43099-574 RF00017-7081 CYP7B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BHLHE22 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BHLHE22

Top Transcription factor binding sites by QIAGEN in the BHLHE22 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • GR
  • GR-alpha
  • GR-beta
  • LCR-F1
  • Nkx2-5
  • SEF-1 (1)
  • STAT3

Genomic Locations for BHLHE22 Gene

Genomic Locations for BHLHE22 Gene
chr8:64,580,365-64,583,627
(GRCh38/hg38)
Size:
3,263 bases
Orientation:
Plus strand
chr8:65,492,795-65,496,191
(GRCh37/hg19)
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

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
ProtoNet:

Suggested Antigen Peptide Sequences for BHLHE22 Gene

GenScript: Design optimal peptide antigens:
  • Trinucleotide repeat-containing gene 20 protein (BHE22_HUMAN)
genes like me logo Genes that share domains with BHLHE22: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for BHLHE22 Gene

Gene Ontology (GO) - Molecular Function for BHLHE22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BHLHE22

No data available for Enzyme Numbers (IUBMB) , 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 4
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BHLHE22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
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

PathCards logo

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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II 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 :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BHLHE22

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

No ASD Table

Relevant External Links for BHLHE22 Gene

GeneLoc Exon Structure for
BHLHE22

Expression for BHLHE22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for BHLHE22 Gene



Protein tissue co-expression partners for BHLHE22 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.6)
  • Blood(2.3)
  • Eye(2.3)
  • Heart(2.2)
  • Skin(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with BHLHE22: view

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 30
  • 96.83 (n)
Cow
(Bos Taurus)
Mammalia LOC101902844 30
  • 87.65 (n)
BHLHE22 31
  • 83 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bhlhe22 30
  • 85.61 (n)
Mouse
(Mus musculus)
Mammalia Bhlhe22 30 17 31
  • 85.45 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BHLHE22 31
  • 82 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BHLHE22 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bhlhe22 30
  • 72.94 (n)
Zebrafish
(Danio rerio)
Actinopterygii bhlhe22 30 31
  • 70.48 (n)
ManyToMany
si:ch211-196c10.13 31
  • 35 (a)
ManyToMany
zgc64225 30
Fruit Fly
(Drosophila melanogaster)
Insecta Oli 31
  • 37 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hlh-32 31
  • 52 (a)
ManyToMany
hlh-31 31
  • 29 (a)
ManyToMany
Species where no ortholog for BHLHE22 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for BHLHE22: view image

Paralogs for BHLHE22 Gene

(2) SIMAP similar genes for BHLHE22 Gene using alignment to 1 proteins:

  • BHE22_HUMAN
genes like me logo Genes that share paralogs with BHLHE22: view

Variants for BHLHE22 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BHLHE22 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
777832 Likely Benign: not provided 64,581,450(+) T/C SYNONYMOUS_VARIANT
rs763704164 Likely Benign: not specified 64,581,450(+) T/TAGCGGC INFRAME_INSERTION
rs7016250 - p.Ser28Ala

Additional dbSNP identifiers (rs#s) for BHLHE22 Gene

Variation tolerance for BHLHE22 Gene

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

Additional Variant Information 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
hermansky-pudlak syndrome 2
  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
phosphoglycerate dehydrogenase deficiency
  • phgdhd
- elite association - COSMIC cancer census association via MalaCards
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 23
  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
  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
  4. cDNAs with long CAG trinucleotide repeats from human brain. (PMID: 9225980) Margolis RL … Ross CA (Human genetics 1997) 2 3
  5. A census of human transcription factors: function, expression and evolution. (PMID: 19274049) Vaquerizas JM … Luscombe NM (Nature reviews. Genetics 2009) 3

Products for BHLHE22 Gene

Sources for BHLHE22 Gene