BTC

betacellulin

Basic information

Region (hg38): 4:74744759-74794523

Links

ENSG00000174808 ∙ NCBI:685 ∙ OMIM:600345 ∙ HGNC:1121 ∙ Uniprot:P35070 ∙ 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 BTC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BTC 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						0
missense			18	1	1	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	1

Variants in BTC

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

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

Position	Type	Phenotype	Significance	ClinVar
4-74748091-T-C		not specified	Uncertain significance (Apr 09, 2024)
4-74748100-T-C		not specified	Uncertain significance (May 27, 2022)
4-74748104-C-T		not specified	Uncertain significance (Oct 29, 2021)
4-74748115-C-T		not specified	Uncertain significance (Dec 03, 2021)
4-74748136-G-A		not specified	Uncertain significance (Apr 01, 2024)
4-74750589-C-A		not specified	Uncertain significance (Nov 06, 2023)
4-74750592-C-T		not specified	Uncertain significance (Dec 13, 2023)
4-74750603-A-G		not specified	Uncertain significance (Apr 08, 2024)
4-74750628-T-G		not specified	Uncertain significance (May 09, 2022)
4-74750648-T-C		not specified	Uncertain significance (Jun 07, 2023)
4-74750673-A-G		not specified	Uncertain significance (May 18, 2023)
4-74750684-C-T		not specified	Uncertain significance (Mar 31, 2022)
4-74750689-A-C		not specified	Uncertain significance (Jun 30, 2023)
4-74750691-A-G		not specified	Uncertain significance (Aug 02, 2021)
4-74750703-T-A		not specified	Uncertain significance (Jul 12, 2023)
4-74750713-A-C		not specified	Uncertain significance (May 27, 2022)
4-74770091-G-A			Benign (Jun 18, 2018)
4-74770147-A-T		not specified	Uncertain significance (Sep 21, 2023)
4-74794280-G-A		not specified	Uncertain significance (Oct 17, 2023)
4-74794310-G-A		not specified	Uncertain significance (Sep 01, 2021)
4-74794310-G-C		not specified	Uncertain significance (Dec 05, 2022)
4-74794312-G-A		not specified	Uncertain significance (Jul 30, 2023)
4-74794318-C-G		not specified	Likely benign (Oct 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BTC	protein_coding	protein_coding	ENST00000395743	5	49928

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0623	0.876	125738	0	5	125743	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.126	104	100	1.04	0.00000553	1137
Missense in Polyphen		21	23.537	0.89222		285
Synonymous	0.122	35	35.9	0.974	0.00000187	354
Loss of Function	1.57	3	7.71	0.389	3.26e-7	113

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000622	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000109	0.000109
South Asian	0.0000358	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells. {ECO:0000269|PubMed:8570211}.
• Pathway: ErbB signaling pathway - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;EGF-Core;ErbB Signaling Pathway;SHC1 events in ERBB2 signaling;Signaling by PTK6;Disease;Signal Transduction;ERBB2 Activates PTK6 Signaling;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;Downregulation of ERBB2 signaling;GPCR signaling-G alpha s PKA and ERK;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;PIP3 activates AKT signaling;GRB2 events in ERBB2 signaling;Signaling by Non-Receptor Tyrosine Kinases;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Constitutive Signaling by Aberrant PI3K in Cancer;PI3K events in ERBB2 signaling;Signaling by ERBB2;ERBB2 Regulates Cell Motility;SHC1 events in ERBB4 signaling;PI3K/AKT Signaling in Cancer;PI3K events in ERBB4 signaling;GPCR signaling-G alpha i;Nuclear signaling by ERBB4;Signaling by ERBB4;Signaling by Receptor Tyrosine Kinases;Intracellular signaling by second messengers;Diseases of signal transduction;ErbB receptor signaling network (Consensus)

Recessive Scores

• pRec: 0.239

Intolerance Scores

• loftool: 0.524
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.27

Haploinsufficiency Scores

• pHI: 0.395
• hipred: N
• hipred_score: 0.169
• ghis: 0.417

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Btc
• Phenotype: growth/size/body region phenotype; muscle phenotype; homeostasis/metabolism phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); skeleton phenotype

Gene ontology

• Biological process: MAPK cascade;epidermal growth factor receptor signaling pathway;positive regulation of cell population proliferation;regulation of signaling receptor activity;peptidyl-tyrosine phosphorylation;positive regulation of urine volume;ERBB2 signaling pathway;negative regulation of apoptotic process;positive regulation of cell differentiation;positive regulation of mitotic nuclear division;phosphatidylinositol phosphorylation;positive regulation of fibroblast proliferation;positive regulation of cell division;positive regulation of protein kinase B signaling;regulation of cell motility
• Cellular component: extracellular region;extracellular space;plasma membrane;integral component of membrane
• Molecular function: protein tyrosine kinase activity;Ras guanyl-nucleotide exchange factor activity;epidermal growth factor receptor binding;protein binding;growth factor activity;phosphatidylinositol-4,5-bisphosphate 3-kinase activity