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BIN2 bridging integrator 2 [ Homo sapiens (human) ]

Gene ID: 51411, updated on 5-Mar-2024

Summary

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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 plasma membrane and podosome. Colocalizes with phagocytic cup. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in bone marrow (RPKM 30.2), spleen (RPKM 24.4) and 15 other tissues See more
Orthologs
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Genomic context

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Location:
12q13.13
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51281038..51324668, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51243929..51287483, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51674822..51718452, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51593597-51594096 Neighboring gene POU class 6 homeobox 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4461 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6373 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:51614127-51614306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51631660-51632297 Neighboring gene Sharpr-MPRA regulatory region 9853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51633573-51634209 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51641233-51641734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51641735-51642234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:51642235-51642736 Neighboring gene DAZ associated protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51663873-51664373 Neighboring gene small cell adhesion glycoprotein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6376 Neighboring gene Sharpr-MPRA regulatory region 8177 Neighboring gene uncharacterized LOC105369767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4466 Neighboring gene Sharpr-MPRA regulatory region 12465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6378 Neighboring gene chymotrypsin like elastase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6379 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:51765098-51765664 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51773037-51773538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51773539-51774038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51781791-51782290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51784367-51784952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51784953-51785537 Neighboring gene solute carrier family 4 member 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Brap regulates liver morphology and hepatocyte turnover via modulation of the Hippo pathway. Priest C, et al. Proc Natl Acad Sci U S A, 2022 May 3. PMID 35476518, Free PMC Article
  2. Bin2, a functionally nonredundant member of the BAR adaptor gene family. Ge K, et al. Genomics, 2000 Jul 15. PMID 10903846
  3. Bin2 is a membrane sculpting N-BAR protein that influences leucocyte podosomes, motility and phagocytosis. Sánchez-Barrena MJ, et al. PLoS One, 2012. PMID 23285027, Free PMC Article
  4. RIN3 is a negative regulator of mast cell responses to SCF. Janson C, et al. PLoS One, 2012. PMID 23185384, Free PMC Article
  5. A genome-wide association study of aging. Walter S, et al. Neurobiol Aging, 2011 Nov. PMID 21782286, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Inhibition of BIN2 extends reproductive lifespan.
    Title: Inhibition of BIN2 extends reproductive lifespan.
  2. 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.
  3. 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.
  4. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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)

  1. 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

  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

  3. 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

  4. 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

  5. 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)

  6. 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

  7. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    51281038..51324668 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428968.1 → XP_047284924.1  bridging integrator 2 isoform X1

RNA

  1. XR_001748746.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    51243929..51287483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372217.1 → XP_054228192.1  bridging integrator 2 isoform X1

RNA

  1. XR_008488610.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBW5.3 GenPept UniProtKB/Swiss-Prot:Q9UBW5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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