BLTP2

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

Basic information

Region (hg38): 17:28614446-28645454

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.

• not_specified (228 variants)
• not_provided (13 variants)
• Prostate_cancer (1 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. These statistics are base on transcript: NM_000014680.5. 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				3	2	5
missense			225	8	3	236
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	226	11	5

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