BHLHE22

basic helix-loop-helix family member e22, the group of Basic helix-loop-helix proteins

Basic information

Region (hg38): 8:64580364-64583627

Previous symbols: [ "TNRC20", "BHLHB5" ]

Links

ENSG00000180828 ∙ NCBI:27319 ∙ OMIM:613483 ∙ HGNC:11963 ∙ Uniprot:Q8NFJ8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BHLHE22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BHLHE22 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			31	1		32
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	3	0

Variants in BHLHE22

This is a list of pathogenic ClinVar variants found in the BHLHE22 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-64580797-C-A		not specified	Uncertain significance (Apr 08, 2022)
8-64580824-G-A		not specified	Uncertain significance (Mar 31, 2024)
8-64580827-G-C		not specified	Uncertain significance (Feb 05, 2024)
8-64580828-G-A		not specified	Uncertain significance (Dec 14, 2022)
8-64580891-C-G		not specified	Uncertain significance (Sep 22, 2023)
8-64580986-G-C		not specified	Uncertain significance (May 09, 2023)
8-64581023-C-G		not specified	Uncertain significance (Aug 16, 2021)
8-64581076-G-A		not specified	Uncertain significance (Mar 19, 2024)
8-64581077-G-A		not specified	Uncertain significance (Oct 04, 2022)
8-64581079-G-A		not specified	Uncertain significance (Dec 27, 2023)
8-64581095-G-C		not specified	Uncertain significance (Dec 18, 2023)
8-64581115-G-A		not specified	Uncertain significance (Mar 07, 2023)
8-64581174-G-C		not specified	Uncertain significance (Apr 07, 2023)
8-64581196-G-C		not specified	Uncertain significance (Mar 21, 2023)
8-64581304-G-C		not specified	Uncertain significance (Oct 25, 2023)
8-64581346-A-G		not specified	Uncertain significance (Dec 11, 2023)
8-64581386-G-A		not specified	Uncertain significance (Oct 12, 2022)
8-64581394-G-T		not specified	Uncertain significance (Jun 30, 2023)
8-64581445-A-G		not specified	Likely benign (Apr 17, 2024)
8-64581450-T-C			Likely benign (Dec 20, 2017)
8-64581450-T-TAGCGGC		not specified	Likely benign (Jun 19, 2015)
8-64581454-G-A		not specified	Uncertain significance (Jun 21, 2023)
8-64581460-G-A		not specified	Uncertain significance (Aug 05, 2023)
8-64581461-G-C		not specified	Uncertain significance (Feb 14, 2023)
8-64581463-G-A		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BHLHE22	protein_coding	protein_coding	ENST00000321870	1	3368

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.800	0.195	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.31	123	171	0.718	0.00000793	2323
Missense in Polyphen		20	56.008	0.35709		698
Synonymous	-1.44	98	81.5	1.20	0.00000407	857
Loss of Function	2.14	0	5.32	0.00	2.28e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000250|UniProtKB:Q8C6A8}.

Recessive Scores

• pRec: 0.193

Haploinsufficiency Scores

• pHI: 0.837
• hipred: N
• hipred_score: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0909

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Bhlhe22
• Phenotype: growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); cellular phenotype; vision/eye phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;neurogenesis
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;protein dimerization activity