BHLHE22 (basic helix-loop-helix family member e22)

Gene

• Entrez ID: 27319
• Gene name: Basic helix-loop-helix family member e22
• Gene symbol: BHLHE22
• Synonyms (NCBI Gene): BHLHB5, Beta3, Beta3a, CAGL85, TNRC20
• Chromosome: 8
• Chromosome location: 8q12.3
• Summary: 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 dors

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017669	hsa-miR-335-5p	Microarray	18185580
MIRT669359	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT669358	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT669357	hsa-miR-1470	HITS-CLIP	23824327
MIRT669356	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT669355	hsa-miR-5193	HITS-CLIP	23824327
MIRT669354	hsa-miR-4469	HITS-CLIP	23824327
MIRT669353	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT669359	hsa-miR-4733-5p	HITS-CLIP	23824327
MIRT669358	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT669357	hsa-miR-1470	HITS-CLIP	23824327
MIRT669356	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT669355	hsa-miR-5193	HITS-CLIP	23824327
MIRT669354	hsa-miR-4469	HITS-CLIP	23824327
MIRT669353	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT821200	hsa-miR-3159	CLIP-seq
MIRT821201	hsa-miR-3679-3p	CLIP-seq
MIRT821202	hsa-miR-3925-3p	CLIP-seq
MIRT821203	hsa-miR-4639-3p	CLIP-seq
MIRT821204	hsa-miR-4645-5p	CLIP-seq
MIRT821205	hsa-miR-4673	CLIP-seq
MIRT821206	hsa-miR-4751	CLIP-seq
MIRT821207	hsa-miR-629	CLIP-seq
MIRT821208	hsa-miR-766	CLIP-seq
MIRT821209	hsa-miR-944	CLIP-seq
MIRT1942747	hsa-miR-1	CLIP-seq
MIRT1942748	hsa-miR-1236	CLIP-seq
MIRT1942749	hsa-miR-204	CLIP-seq
MIRT1942750	hsa-miR-206	CLIP-seq
MIRT1942751	hsa-miR-211	CLIP-seq
MIRT1942752	hsa-miR-3673	CLIP-seq
MIRT1942753	hsa-miR-4307	CLIP-seq
MIRT1942754	hsa-miR-4446-5p	CLIP-seq
MIRT1942755	hsa-miR-4753-3p	CLIP-seq
MIRT1942756	hsa-miR-4755-5p	CLIP-seq
MIRT1942757	hsa-miR-4768-5p	CLIP-seq
MIRT1942758	hsa-miR-485-3p	CLIP-seq
MIRT1942759	hsa-miR-613	CLIP-seq
MIRT1942760	hsa-miR-623	CLIP-seq
MIRT2181519	hsa-miR-2116	CLIP-seq
MIRT2181520	hsa-miR-3074-3p	CLIP-seq
MIRT2181521	hsa-miR-4258	CLIP-seq
MIRT2181522	hsa-miR-4477a	CLIP-seq
MIRT2181523	hsa-miR-4643	CLIP-seq
MIRT2181524	hsa-miR-466	CLIP-seq
MIRT2181525	hsa-miR-4677-5p	CLIP-seq
MIRT2181526	hsa-miR-4789-3p	CLIP-seq
MIRT2444793	hsa-miR-2276	CLIP-seq
MIRT2444794	hsa-miR-3194-3p	CLIP-seq
MIRT2444795	hsa-miR-4772-3p	CLIP-seq
MIRT2444796	hsa-miR-513b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HOXA10	Activation	17350963

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007423	Process	Sensory organ development	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0061564	Process	Axon development	IBA
GO:0070888	Function	E-box binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 613483
• HGNC: 11963
• e!Ensembl: ENSG00000180828

Protein

• UniProt ID: Q8NFJ8
• Protein name: Class E basic helix-loop-helix protein 22 (bHLHe22) (Class B basic helix-loop-helix protein 5) (bHLHb5) (Trinucleotide repeat-containing gene 20 protein)
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	243 → 297	Helix-loop-helix DNA-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain-specific, with the highest expression in the cerebellum. {ECO:0000269|PubMed:12213201}.
• Sequence:

  MERGMHLGAAAAGEDDLFLHKSLSASTSKRLEAAFRSTPPGMDLSLAPPPRERPASSSSS
  PLGCFEPADPEGAGLLLPPPGGGGGGSAGSGGGGGGGVGVPGLLVGSAGVGGDPSLSSLP
  AGAALCLKYGESASRGSVAESSGGEQSPDDDSDGRCELVLRAGVADPRASPGAGGGGAKA
  AEGCSNAHLHGGASVPPGGLGGGGGGGSSSGSSGGGGGSGSGSGGSSSSSSSSSKKSKEQ
  KALRLNINARERRRMHDLNDALDELRAVIPYAHSPSVRKLSKIATLLLAKNYILMQAQAL
  EEMRRLVAYLNQGQAISAASLPSSAAAAAAAAALHPALGAYEQAAGYPFSAGLPPAASCP
  EKCALFNSVSSSLCKQCTEKP

• Sequence length: 381

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	19435948, 25257380		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21847578		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11877352		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11877352		★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	28743950		★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	28743950		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16317580, 24894670, 25724666, 30126203		★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	35806162	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28025079		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30831055		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24661907		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30798076		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16670426		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	18836731, 21508388		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	30711942		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	26147511		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	LHGDN	12213201		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31779688		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31779688, 39794015	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35806162	Inhibit	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28925561		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	27781423		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25976261		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25244496, 25976261		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25244496		★☆☆☆☆ Found in Text Mining only
Hepatic Veno Occlusive Disease	Hepatic veno occlusive disease	Pubtator	31790828	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	30798076		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	31733428		★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	11809908		★☆☆☆☆ Found in Text Mining only
Hermansky Pudlak syndrome 2	Hermansky-pudlak syndrome	Pubtator	16507770, 19679886, 24302998	Associate	★☆☆☆☆ Found in Text Mining only
HERMANSKY-PUDLAK SYNDROME 2	Hermansky-Pudlak Syndrome	BEFREE	11592818		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	25530976		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	26667592		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30798076		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	24331363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16317580, 24894670, 25724666, 30126203		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31779688		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24661907		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25544769, 30674344, 31099013		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17034033, 24378408		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28025079		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22180309, 25244496, 27943021, 28056740, 30711942		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16670426		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	26686345		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	26147511		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	26147511		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23941826, 24378408, 25544769, 25976261, 26416565, 27207668, 28025079, 28567478, 28624703, 30126203		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	27781423		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21738778, 22836512, 25894372, 27207668, 30429459		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28275089		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24661907		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25544769, 30674344, 31099013		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	31099013		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15548355, 17034033, 24378408		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25257380		★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	10845892, 11877352		★☆☆☆☆ Found in Text Mining only