BIN3 bridging integrator 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BIN3provided by HGNC
Official Full Name: bridging integrator 3provided by HGNC
Primary source: HGNC:HGNC:1054
See related: Ensembl:ENSG00000147439 MIM:606396; AllianceGenome:HGNC:1054
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
Summary: The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 13.5), adrenal (RPKM 7.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (22620418..22669121, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (22894322..22943373, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (22477931..22526634, complement)

Chromosome 8 - NC_000008.11 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?

like RVS161, hob3+ and BIN3 regulate F-actin localization, but other roles for these genes have diverged somewhat during evolution
Title: Human BIN3 complements the F-actin localization defects caused by loss of Hob3p, the fission yeast homolog of Rvs161p.
BIN3 is a BAR domain adapter protein implicated in actin regulation; it is homologous to budding yeast Rvs161 and fission yeast Hob3.
Title: Human BIN3 complements the F-actin localization defects caused by loss of Hob3p, the fission yeast homolog of Rvs161p.

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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Markers

RH47796 (e-PCR)
- UniSTS:44846

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D8S1733 (e-PCR), detects polymorphism
- UniSTS:24195

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-150806 (e-PCR)
- UniSTS:173222

SHGC-155287 (e-PCR)
- UniSTS:184784

RH48987 (e-PCR)
- UniSTS:48629

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytoskeletal anchor activity	NAS Non-traceable Author Statement more info	PubMed
contributes_to lipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cortical patch localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	NAS Non-traceable Author Statement more info	PubMed
involved_in cytoskeleton-dependent cytokinesis	NAS Non-traceable Author Statement more info	PubMed
involved_in division septum assembly	IEA Inferred from Electronic Annotation more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in myoblast migration involved in skeletal muscle regeneration	IEA Inferred from Electronic Annotation more info
involved_in plasma membrane tubulation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lamellipodium assembly	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info
involved_in unidimensional cell growth	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in actin cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: bridging integrator 3

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_001363046.2 → NP_001349975.1 bridging integrator 3 isoform 2

Status: REVIEWED

Source sequence(s)

AC037459, BC009824, BM670487, CN427936, DA480525

Consensus CDS

CCDS87587.1

UniProtKB/TrEMBL

H7BYV6

Related

ENSP00000382859.4, ENST00000399977.8

Conserved Domains (1) summary

cl12013
Location:7 → 188

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_018688.6 → NP_061158.1 bridging integrator 3 isoform 1

See identical proteins and their annotated locations for NP_061158.1

Status: REVIEWED

Source sequence(s)

AC037459, AC105046, BC009824, BM670487, DA480525

Consensus CDS

CCDS47825.1

UniProtKB/Swiss-Prot

Q9BVG2, Q9NQY0, Q9NVY9

UniProtKB/TrEMBL

Q53HW0

Related

ENSP00000276416.6, ENST00000276416.11

Conserved Domains (1) summary

cd07590
Location:12 → 236

BAR_Bin3; The Bin/Amphiphysin/Rvs (BAR) domain of Bridging integrator 3

RNA

NR_156436.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC037459, AC105046, BC009824, BM670487, CR995147, DA480525

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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

22620418..22669121 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421995.1 → XP_047277951.1 bridging integrator 3 isoform X1

Related

ENSP00000430423.1, ENST00000519513.5
XM_011544587.2 → XP_011542889.1 bridging integrator 3 isoform X2

UniProtKB/TrEMBL

E5RHU4

Related

ENSP00000429660.1, ENST00000520292.1

Conserved Domains (1) summary

cl12013
Location:12 → 118

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