BHLHE22

Functionⁱ

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.By similarity

GO - Molecular functionⁱ

DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
protein dimerization activity Source: InterPro

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

neurogenesis Source: InterPro

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Repressor
Biological process	Neurogenesis, Transcription, Transcription regulation

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Class E basic helix-loop-helix protein 22 Short name: bHLHe22 Alternative name(s): Class B basic helix-loop-helix protein 5 Short name: bHLHb5 Trinucleotide repeat-containing gene 20 protein
Gene namesⁱ	Name:BHLHE22 Synonyms:BHLHB5, TNRC20
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 8

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000180828.2
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:11963 BHLHE22
MIMⁱ	613483 gene
neXtProtⁱ	NX_Q8NFJ8

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	27319
Open Targets More...OpenTargetsⁱ	ENSG00000180828
PharmGKBⁱ	PA36650

Polymorphism and mutation databases

BioMutaⁱ	BHLHE22
DMDMⁱ	74751284

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000274285	1 – 381	Class E basic helix-loop-helix protein 22Add BLAST		381

Proteomic databases

PaxDbⁱ	Q8NFJ8
PeptideAtlas More...PeptideAtlasⁱ	Q8NFJ8
PRIDEⁱ	Q8NFJ8
ProteomicsDBⁱ	73318

PTM databases

iPTMnetⁱ	Q8NFJ8
PhosphoSitePlusⁱ	Q8NFJ8

Expressionⁱ

Tissue specificityⁱ

Brain-specific, with the highest expression in the cerebellum.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000180828 Expressed in 149 organ(s), highest expression level in cerebellar vermis
Genevisibleⁱ	Q8NFJ8 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA064128 HPA064872 HPA067500

HPAⁱ

HPA064128
HPA064872
HPA067500

Interactionⁱ

Subunit structureⁱ

Interacts with PRDM8.By similarity

GO - Molecular functionⁱ

protein dimerization activity Source: InterPro

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

STRINGⁱ	9606.ENSP00000318799

STRINGⁱ

9606.ENSP00000318799

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q8NFJ8
SMRⁱ	Q8NFJ8
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	242 – 296	bHLHPROSITE-ProRule annotationAdd BLAST		55

Compositional bias

Feature key	Position(s)	DescriptionActions	Length
Compositional biasⁱ	56 – 60	Poly-Ser	5
Compositional biasⁱ	72 – 225	Gly-richAdd BLAST	154
Compositional biasⁱ	208 – 234	Ser-richAdd BLAST	27
Compositional biasⁱ	315 – 357	Ala-richAdd BLAST	43

Phylogenomic databases

eggNOGⁱ	KOG3898 Eukaryota ENOG410ZDH5 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000063239
InParanoidⁱ	Q8NFJ8
KEGG Orthology (KO) More...KOⁱ	K09086
OMAⁱ	CKQCTDK
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G129L
PhylomeDBⁱ	Q8NFJ8
TreeFamⁱ	TF322733

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00083 HLH, 1 hit
Gene3Dⁱ	4.10.280.10, 1 hit
InterProⁱ	View protein in InterPro IPR011598 bHLH_dom IPR032654 Bhlhe22 IPR036638 HLH_DNA-bd_sf
PANTHERⁱ	PTHR19290:SF52 PTHR19290:SF52, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00010 HLH, 1 hit
SMARTⁱ	View protein in SMART SM00353 HLH, 1 hit
SUPFAMⁱ	SSF47459 SSF47459, 1 hit
PROSITEⁱ	View protein in PROSITE PS50888 BHLH, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Q8NFJ8-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MERGMHLGAA AAGEDDLFLH KSLSASTSKR LEAAFRSTPP GMDLSLAPPP 
        60         70         80         90        100
RERPASSSSS PLGCFEPADP EGAGLLLPPP GGGGGGSAGS GGGGGGGVGV 
       110        120        130        140        150
PGLLVGSAGV GGDPSLSSLP AGAALCLKYG ESASRGSVAE SSGGEQSPDD 
       160        170        180        190        200
DSDGRCELVL RAGVADPRAS PGAGGGGAKA AEGCSNAHLH GGASVPPGGL 
       210        220        230        240        250
GGGGGGGSSS GSSGGGGGSG SGSGGSSSSS SSSSKKSKEQ KALRLNINAR 
       260        270        280        290        300
ERRRMHDLND ALDELRAVIP YAHSPSVRKL SKIATLLLAK NYILMQAQAL 
       310        320        330        340        350
EEMRRLVAYL NQGQAISAAS LPSSAAAAAA AAALHPALGA YEQAAGYPFS 
       360        370        380 
AGLPPAASCP EKCALFNSVS SSLCKQCTEK P

Length:381

Mass (Da):36,997

Last modified:October 1, 2002 - v1

Checksum:ⁱ7B17A9BD5C7F8569

GO

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_061255	28	S → A. Corresponds to variant dbSNP:rs7016250Ensembl.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF504925 Genomic DNA Translation: AAM28881.1 BK000273 mRNA Translation: DAA01053.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS6179.1
NCBI Reference Sequences More...RefSeqⁱ	NP_689627.1, NM_152414.4
UniGeneⁱ	Hs.388788 Hs.591870 Hs.745052

Genome annotation databases

Ensemblⁱ	ENST00000321870; ENSP00000318799; ENSG00000180828
GeneIDⁱ	27319
KEGGⁱ	hsa:27319
UCSC genome browser More...UCSCⁱ	uc003xvi.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8NFJ8	cDNA FLJ60464, highly similar to Homo sapiens basic helix-loop-helix domain containing, class B, 5 (BHLHB5), mRNA		HUMAN		384	UniRef90_Q8NFJ8
Uncharacterized protein		CHLSB		383
Uncharacterized protein		MACFA		382
Uncharacterized protein		MACNE		381
BHLHE22 isoform 1		PONAB		380
+13

Protein	Similar proteins		Species	Score	Length	Source
Q8NFJ8	Class E basic helix-loop-helix protein 22		MOUSE		355	UniRef50_Q8C6A8
Class E basic helix-loop-helix protein 22		MESAU		365
Uncharacterized protein		FELCA		374
Uncharacterized protein		Cebus capucinus imitator		371
class E basic helix-loop-helix protein 22		Enhydra lutris kenyoni		370
+67

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF504925 Genomic DNA Translation: AAM28881.1 BK000273 mRNA Translation: DAA01053.1
CCDSⁱ	CCDS6179.1
RefSeqⁱ	NP_689627.1, NM_152414.4
UniGeneⁱ	Hs.388788 Hs.591870 Hs.745052

3D structure databases

ProteinModelPortalⁱ	Q8NFJ8
SMRⁱ	Q8NFJ8
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

STRINGⁱ	9606.ENSP00000318799

STRINGⁱ

9606.ENSP00000318799

PTM databases

iPTMnetⁱ	Q8NFJ8
PhosphoSitePlusⁱ	Q8NFJ8

Polymorphism and mutation databases

BioMutaⁱ	BHLHE22
DMDMⁱ	74751284

Proteomic databases

PaxDbⁱ	Q8NFJ8
PeptideAtlasⁱ	Q8NFJ8
PRIDEⁱ	Q8NFJ8
ProteomicsDBⁱ	73318

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	27319
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000321870; ENSP00000318799; ENSG00000180828
GeneIDⁱ	27319
KEGGⁱ	hsa:27319
UCSCⁱ	uc003xvi.4 human

Organism-specific databases

CTDⁱ	27319
DisGeNETⁱ	27319
EuPathDBⁱ	HostDB:ENSG00000180828.2
GeneCardsⁱ	BHLHE22
H-InvDBⁱ	HIX0007544
HGNCⁱ	HGNC:11963 BHLHE22
HPAⁱ	HPA064128 HPA064872 HPA067500
MIMⁱ	613483 gene
neXtProtⁱ	NX_Q8NFJ8
OpenTargetsⁱ	ENSG00000180828
PharmGKBⁱ	PA36650
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3898 Eukaryota ENOG410ZDH5 LUCA
GeneTreeⁱ	ENSGT00530000063239
InParanoidⁱ	Q8NFJ8
KOⁱ	K09086
OMAⁱ	CKQCTDK
OrthoDBⁱ	EOG091G129L
PhylomeDBⁱ	Q8NFJ8
TreeFamⁱ	TF322733

Miscellaneous databases

GenomeRNAiⁱ	27319
Protein Ontology More...PROⁱ	PR:Q8NFJ8
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000180828 Expressed in 149 organ(s), highest expression level in cerebellar vermis
Genevisibleⁱ	Q8NFJ8 HS

Family and domain databases

CDDⁱ	cd00083 HLH, 1 hit
Gene3Dⁱ	4.10.280.10, 1 hit
InterProⁱ	View protein in InterPro IPR011598 bHLH_dom IPR032654 Bhlhe22 IPR036638 HLH_DNA-bd_sf
PANTHERⁱ	PTHR19290:SF52 PTHR19290:SF52, 1 hit
Pfamⁱ	View protein in Pfam PF00010 HLH, 1 hit
SMARTⁱ	View protein in SMART SM00353 HLH, 1 hit
SUPFAMⁱ	SSF47459 SSF47459, 1 hit
PROSITEⁱ	View protein in PROSITE PS50888 BHLH, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	BHE22_HUMAN
Accessionⁱ	Q8NFJ8Primary (citable) accession number: Q8NFJ8
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	February 6, 2007
	Last sequence update:	October 1, 2002
	Last modified:	November 7, 2018
	This is version 117 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM

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UniProtKB - Q8NFJ8 (BHE22_HUMAN)

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Class E basic helix-loop-helix protein 22

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Compositional bias

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ