BHLHA15

basic helix-loop-helix family member a15, the group of Basic helix-loop-helix proteins

Basic information

Region (hg38): 7:98211439-98215457

Previous symbols: [ "BHLHB8" ]

Links

ENSG00000180535 ∙ NCBI:168620 ∙ OMIM:608606 ∙ HGNC:22265 ∙ Uniprot:Q7RTS1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 4.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_177455.4	NP_803238.1	1	yes	-
ENST00000609256.2	ENSP00000476312.1	1	yes	-
ENST00000314018.2	ENSP00000326391.2	1	-	-
ENST00000930537.1	ENSP00000600596.1	1	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BHLHA15 gene.

• not_specified (42 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BHLHA15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_177455.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			40	2		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BHLHA15	protein_coding	protein_coding	ENST00000609256	1	1553

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		119150	0	5	119155	0.0000210

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.490	96	110	0.869	0.00000833	1169
Missense in Polyphen		42	58.295	0.72047		537
Synonymous	-0.652	59	53.0	1.11	0.00000404	426
Loss of Function	0.0180	3	3.03	0.989	1.29e-7	42

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	0.0000507	0.0000489
European (Non-Finnish)	0.0000417	0.0000371
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E- box occupancy by homodimers. May also negatively regulate bHLH- mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E- box consensus sequence 5'-CANNTG-3' (By similarity). {ECO:0000250|UniProtKB:Q9QYC3}.
• Pathway: Maturity onset diabetes of the young - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.150

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.441

Gene Damage Prediction

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

Zebrafish Information Network

• Gene name: bhlha15
• Affected structure: exocrine pancreas
• Phenotype tag: abnormal
• Phenotype quality: disorganized

Gene ontology

• Biological process: mitochondrial calcium ion transmembrane transport;Golgi organization;G protein-coupled receptor signaling pathway;cell-cell signaling;negative regulation of myotube differentiation;calcium-mediated signaling;endoplasmic reticulum unfolded protein response;cellular response to glucose starvation;glucose homeostasis;positive regulation of transcription by RNA polymerase II;intracellular distribution of mitochondria;cell maturation
• Cellular component: nucleus
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;protein homodimerization activity