BPIFB2 BPI fold containing family B member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BPIFB2provided by HGNC
Official Full Name: BPI fold containing family B member 2provided by HGNC
Primary source: HGNC:HGNC:16177
See related: Ensembl:ENSG00000078898 MIM:614108; AllianceGenome:HGNC:16177
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RYSR; BPIL1; LPLUNC2; C20orf184; dJ726C3.2
Summary: This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]
Expression: Biased expression in salivary gland (RPKM 49.9) and esophagus (RPKM 45.9) See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (33007704..33023703)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (34734395..34750394)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (31595510..31611509)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BPIFB2 is highly expressed in ""cold"" lung adenocarcinoma and decreases T cell chemotaxis via activation of the STAT3 pathway.
Title: BPIFB2 is highly expressed in "cold" lung adenocarcinoma and decreases T cell chemotaxis via activation of the STAT3 pathway.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
BPIL1 maps to Chromosome 20q11; thus, these novel genes form a cluster with BPI and two other members of the LT/LBP gene family on the long arm of human Chr 20. AA sequence is reported.
Title: Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP).

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipid binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: BPI fold-containing family B member 2

Names: BPI-like 1; bactericidal/permeability-increasing protein-like 1; long palate, lung and nasal epithelium carcinoma-associated protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016714.1 RefSeqGene

Range

5104..21103

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_025227.3 → NP_079503.1 BPI fold-containing family B member 2 precursor

See identical proteins and their annotated locations for NP_079503.1

Status: REVIEWED

Source sequence(s)

AK027068, BC034415

Consensus CDS

CCDS13210.1

UniProtKB/Swiss-Prot

Q6UWN3, Q6ZME0, Q8N4F0, Q8NFQ7

UniProtKB/TrEMBL

B4E209

Related

ENSP00000170150.3, ENST00000170150.4

Conserved Domains (2) summary

cd00026
Location:254 → 455

BPI2; BPI/LBP/CETP C-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) C-terminal domain; binds to and neutralizes lipopolysaccharides from the outer ...

pfam01273
Location:33 → 184

LBP_BPI_CETP; LBP / BPI / CETP family, N-terminal domain