BIN2 bridging integrator 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BIN2provided by HGNC
Official Full Name: bridging integrator 2provided by HGNC
Primary source: HGNC:HGNC:1053
See related: Ensembl:ENSG00000110934 MIM:605936; AllianceGenome:HGNC:1053
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRAP-1
Summary: Enables phospholipid binding activity. Involved in several processes, including phagocytosis, engulfment; plasma membrane tubulation; and podosome assembly. Located in phagocytic cup and podosome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in bone marrow (RPKM 30.2), spleen (RPKM 24.4) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (51281038..51324668, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (51243929..51287483, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (51674822..51718452, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Inhibition of BIN2 extends reproductive lifespan.
Title: Inhibition of BIN2 extends reproductive lifespan.
Bin2 is a membrane-sculpting protein that influences podosome formation, motility and phagocytosis in leucocytes.
Title: Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Bin2 is a BAR domain adapter protein structurally related but functionally distinct from family members Bin1 and amphiphysin.
Title: Bin2, a functionally nonredundant member of the BAR adaptor gene family.

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

EBI GWAS Catalog

Description
A genome-wide association study of aging. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

D12S1811 (e-PCR)
- UniSTS:37648

RH101956 (e-PCR)
- UniSTS:96291

SHGC-79249 (e-PCR)
- UniSTS:102779

G21352 (e-PCR)
- UniSTS:60399

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phagocytosis, engulfment	IBA Inferred from Biological aspect of Ancestor more info
involved_in phagocytosis, engulfment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in plasma membrane tubulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in plasma membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in podosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in podosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
colocalizes_with phagocytic cup	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with phagocytic cup	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in podosome	IBA Inferred from Biological aspect of Ancestor more info
located_in podosome	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: bridging integrator 2

Names: breast cancer associated protein BRAP1; breast cancer-associated protein 1

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.

mRNA and Protein(s)

NM_001290007.2 → NP_001276936.1 bridging integrator 2 isoform 2

Status: VALIDATED

Source sequence(s)

AB032698, AK300211, BX281612

Consensus CDS

CCDS76561.1

UniProtKB/TrEMBL

B2RAR0

Related

ENSP00000445874.1, ENST00000544402.5

Conserved Domains (1) summary

cd07612
Location:4 → 214

BAR_Bin2; The Bin/Amphiphysin/Rvs (BAR) domain of Bridging integrator 2
NM_001290008.2 → NP_001276937.2 bridging integrator 2 isoform 3

Status: VALIDATED

Source sequence(s)

AB032698, AK000783, BX281612, DB035315

Consensus CDS

CCDS91696.1

UniProtKB/TrEMBL

B2RAR0

Related

ENSP00000410217.3, ENST00000452142.7

Conserved Domains (2) summary

cl12013
Location:30 → 208

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl28033
Location:231 → 451

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
NM_001290009.2 → NP_001276938.1 bridging integrator 2 isoform 4

See identical proteins and their annotated locations for NP_001276938.1

Status: VALIDATED

Source sequence(s)

AB032698, AK225911, BX281612, DB035315

UniProtKB/Swiss-Prot

Q9UBW5

Related

ENST00000605039.5

Conserved Domains (2) summary

cl12013
Location:1 → 116

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl28033
Location:139 → 359

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
NM_001364779.1 → NP_001351708.1 bridging integrator 2 isoform 5

Status: VALIDATED

Source sequence(s)

AC046135

UniProtKB/TrEMBL

B2RAR0

Conserved Domains (2) summary

cd07612
Location:30 → 240

BAR_Bin2; The Bin/Amphiphysin/Rvs (BAR) domain of Bridging integrator 2

cl28033
Location:251 → 482

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
NM_001364780.1 → NP_001351709.1 bridging integrator 2 isoform 6

Status: VALIDATED

Source sequence(s)

AC046135

UniProtKB/TrEMBL

B2RAR0

Related

ENSP00000474972.3, ENST00000604560.6

Conserved Domains (2) summary

cd07612
Location:30 → 240

BAR_Bin2; The Bin/Amphiphysin/Rvs (BAR) domain of Bridging integrator 2

cl25496
Location:264 → 536

Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
NM_001364781.1 → NP_001351710.1 bridging integrator 2 isoform 7

Status: VALIDATED

Source sequence(s)

AC046135

UniProtKB/TrEMBL

B2RAR0

Conserved Domains (2) summary

cl12013
Location:30 → 201

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl28033
Location:193 → 429

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
NM_016293.4 → NP_057377.4 bridging integrator 2 isoform 1

Status: VALIDATED

Source sequence(s)

AB032698, AF146531, BX281612, DB035315

Consensus CDS

CCDS8811.3

UniProtKB/Swiss-Prot

B7Z6F3, F5H0W4, Q86VV0, Q9NWK4, Q9UBW5, Q9UKN4

UniProtKB/TrEMBL

B2RAR0

Related

ENSP00000483983.2, ENST00000615107.6

Conserved Domains (2) summary

cd07612
Location:30 → 240

BAR_Bin2; The Bin/Amphiphysin/Rvs (BAR) domain of Bridging integrator 2

cl28033
Location:263 → 483

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region