BLTP2

bridge-like lipid transfer protein family member 2, the group of bridge-like lipid transfer protein family

Basic information

Region (hg38): 17:28614445-28645454

Previous symbols: [ "KIAA0100" ]

Links

ENSG00000007202 ∙ NCBI:9703 ∙ OMIM:610664 ∙ HGNC:28960 ∙ Uniprot:Q14667 ∙ 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 BLTP2 gene.

• Inborn genetic diseases (27 variants)
• not provided (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BLTP2 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				3	2	5
missense			29	3	3	35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	6	5

Variants in BLTP2

This is a list of pathogenic ClinVar variants found in the BLTP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-28615749-C-A		not specified	Uncertain significance (Apr 10, 2023)
17-28616462-C-T			Benign (Apr 01, 2022)
17-28616747-C-T		not specified	Uncertain significance (Jan 09, 2024)
17-28616956-A-G			Uncertain significance (Jun 21, 2018)
17-28616980-C-T		not specified	Uncertain significance (Dec 12, 2023)
17-28616981-T-A		not specified	Uncertain significance (Dec 12, 2023)
17-28617245-T-C		not specified	Uncertain significance (Jun 02, 2023)
17-28619682-C-G		not specified	Uncertain significance (Feb 03, 2022)
17-28619875-C-T		not specified	Uncertain significance (May 09, 2023)
17-28619971-G-C		not specified	Uncertain significance (Apr 13, 2022)
17-28620589-T-C		not specified	Uncertain significance (Aug 17, 2021)
17-28621021-G-C		not specified	Uncertain significance (Jul 11, 2023)
17-28621048-T-C		not specified	Uncertain significance (Jan 03, 2024)
17-28621101-C-G		not specified	Uncertain significance (May 02, 2023)
17-28621444-T-C		not specified	Uncertain significance (Nov 10, 2023)
17-28623776-C-T		not specified	Uncertain significance (Oct 29, 2021)
17-28623792-T-C		not specified	Uncertain significance (Sep 14, 2023)
17-28623866-G-T		not specified	Uncertain significance (Nov 01, 2022)
17-28624336-G-A		not specified	Uncertain significance (Oct 10, 2023)
17-28624382-T-C		not specified	Uncertain significance (Jun 29, 2023)
17-28628319-G-A			Likely benign (Mar 01, 2023)
17-28628337-T-C			Likely benign (Apr 01, 2023)
17-28628345-C-T		not specified	Uncertain significance (Nov 14, 2023)
17-28631490-T-C		not specified	Uncertain significance (Dec 22, 2023)
17-28631513-G-A		not specified	Uncertain significance (Jun 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BLTP2	protein_coding	protein_coding	ENST00000528896	39	31015

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.44e-9	1.00	125667	0	81	125748	0.000322

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.48	986	1.23e+3	0.801	0.0000702	14601
Missense in Polyphen		188	340.91	0.55146		3992
Synonymous	-1.89	516	464	1.11	0.0000229	4463
Loss of Function	6.84	38	118	0.321	0.00000662	1233

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000784	0.000782
Ashkenazi Jewish	0.0000999	0.0000992
East Asian	0.000273	0.000272
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000336	0.000334
Middle Eastern	0.000273	0.000272
South Asian	0.000588	0.000555
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in membrane trafficking. {ECO:0000250|UniProtKB:K7VLR4}.

Intolerance Scores

• loftool: 0.750
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.43

Haploinsufficiency Scores

• pHI: 0.297
• hipred: Y
• hipred_score: 0.575
• ghis: 0.552

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: K
• gene_indispensability_pred: N
• gene_indispensability_score: 0.211

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 2610507B11Rik

Gene ontology

• Cellular component: extracellular region