The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative s... See more...

Aliases for BANK1 Gene

Aliases for BANK1 Gene

  • B Cell Scaffold Protein With Ankyrin Repeats 1 2 3 5
  • B-Cell Scaffold Protein With Ankyrin Repeats 3 4
  • BANK 3

External Ids for BANK1 Gene

Previous GeneCards Identifiers for BANK1 Gene

  • GC04P103170
  • GC04P103069
  • GC04P102930
  • GC04P102711
  • GC04P102332
  • GC04P098449

Summaries for BANK1 Gene

Entrez Gene Summary for BANK1 Gene

  • The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for BANK1 Gene

BANK1 (B Cell Scaffold Protein With Ankyrin Repeats 1) is a Protein Coding gene. Diseases associated with BANK1 include Systemic Lupus Erythematosus and Lupus Erythematosus. An important paralog of this gene is PIK3AP1.

UniProtKB/Swiss-Prot Summary for BANK1 Gene

  • Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2.

Additional gene information for BANK1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BANK1 Gene

Genomics for BANK1 Gene

GeneHancer (GH) Regulatory Elements for BANK1 Gene

Promoters and enhancers for BANK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J101789 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500 +379.5 379520 2 TCF12 PHF8 EP300 MEF2C RCOR1 ZBTB7A HDAC2 POLR2A CTCF BCL11A BANK1 RNU6-462P FLJ20021 PPP3CA L13714-354 piR-48965-103
GH04J101411 Promoter 0.4 Ensembl 500.7 +0.2 214 0.6 TAF7 BANK1 lnc-BANK1-1 FLJ20021 PPP3CA piR-46256-032
GH04J101804 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 26.4 +396.1 396115 6.8 SP1 EP300 TRIM22 BCL11A TCF12 CTCF ARNT MEF2B BATF IRF4 piR-31937-161 BANK1 ENSG00000251309 L13714-354
GH04J101972 Enhancer 0.8 FANTOM5 Ensembl dbSUPER 10.2 +562.2 562215 2.2 USF1 FOXA2 RAD51 FOXA1 MTND5P5 lnc-NFKB1-6 BANK1 piR-35674-394
GH04J101953 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 4.2 +542.8 542815 3 EP300 ZSCAN5C TCF12 TEAD4 CTCF TEAD1 ATF2 CTBP1 POLR2A OSR2 BANK1 MTND5P5 RF00017-4375
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BANK1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BANK1

Top Transcription factor binding sites by QIAGEN in the BANK1 gene promoter:
  • AML1a
  • c-Myb
  • En-1
  • Evi-1
  • Lhx3a
  • LHX3b
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for BANK1 Gene

Genomic Locations for BANK1 Gene
chr4:101,411,286-102,074,812
(GRCh38/hg38)
Size:
663,527 bases
Orientation:
Plus strand
chr4:102,332,443-102,995,969
(GRCh37/hg19)
Size:
663,527 bases
Orientation:
Plus strand

Genomic View for BANK1 Gene

Genes around BANK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BANK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BANK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BANK1 Gene

Proteins for BANK1 Gene

  • Protein details for BANK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDB2-BANK1_HUMAN
    Recommended name:
    B-cell scaffold protein with ankyrin repeats
    Protein Accession:
    Q8NDB2
    Secondary Accessions:
    • A8K7W8
    • B0F3S2
    • Q8N5K8
    • Q8NB56
    • Q8WYN5
    • Q9NWP2

    Protein attributes for BANK1 Gene

    Size:
    785 amino acids
    Molecular mass:
    89282 Da
    Quaternary structure:
    • Interacts with LYN, ITPR1 and ITPR2.
    SequenceCaution:
    • Sequence=BAA91337.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for BANK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BANK1 Gene

Post-translational modifications for BANK1 Gene

No data available for DME Specific Peptides for BANK1 Gene

Domains & Families for BANK1 Gene

Gene Families for BANK1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BANK1 Gene

Suggested Antigen Peptide Sequences for BANK1 Gene

GenScript: Design optimal peptide antigens:
  • B-cell scaffold protein with ankyrin repeats (BANK1_HUMAN)
genes like me logo Genes that share domains with BANK1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BANK1 Gene

Function for BANK1 Gene

Molecular function for BANK1 Gene

UniProtKB/Swiss-Prot Function:
Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2.

Phenotypes From GWAS Catalog for BANK1 Gene

Gene Ontology (GO) - Molecular Function for BANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 11782428
GO:1990782 protein tyrosine kinase binding IPI 11782428
genes like me logo Genes that share ontologies with BANK1: view
genes like me logo Genes that share phenotypes with BANK1: view

Animal Models for BANK1 Gene

MGI Knock Outs for BANK1:

miRNA for BANK1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BANK1 Gene

Localization for BANK1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BANK1 gene
Compartment Confidence
cytosol 3
plasma membrane 2
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for BANK1 Gene

Pathways & Interactions for BANK1 Gene

PathCards logo

SuperPathways for BANK1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009617 response to bacterium IEA --
GO:0042113 B cell activation IDA,IBA 11782428
GO:0043410 positive regulation of MAPK cascade IEA --
GO:0045947 negative regulation of translational initiation IEA --
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IMP 11782428
genes like me logo Genes that share ontologies with BANK1: view

No data available for Pathways by source and SIGNOR curated interactions for BANK1 Gene

Drugs & Compounds for BANK1 Gene

No Compound Related Data Available

Transcripts for BANK1 Gene

mRNA/cDNA for BANK1 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BANK1 Gene

No ASD Table

Relevant External Links for BANK1 Gene

GeneLoc Exon Structure for
BANK1

Expression for BANK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BANK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BANK1 Gene

This gene is overexpressed in Spleen (x13.4), Small Intestine - Terminal Ileum (x8.0), and Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for BANK1 Gene

This gene is overexpressed in Blymphocyte (41.5) and Peripheral blood mononuclear cells (14.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BANK1 Gene



Protein tissue co-expression partners for BANK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BANK1

SOURCE GeneReport for Unigene cluster for BANK1 Gene:

Hs.480400

mRNA Expression by UniProt/SwissProt for BANK1 Gene:

Q8NDB2-BANK1_HUMAN
Tissue specificity: Expressed in B-cell but not T-cell or myeloid cell lines. Highest expression in CD19(+) B-cells, with very low expression in other cell populations.

Evidence on tissue expression from TISSUES for BANK1 Gene

  • Blood(4.4)
  • Lymph node(4.4)
  • Intestine(4.3)
  • Nervous system(4.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with BANK1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BANK1 Gene

Orthologs for BANK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BANK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BANK1 31 30
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BANK1 31 30
  • 85.15 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BANK1 31 30
  • 83.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bank1 17 31 30
  • 77.1 (n)
rat
(Rattus norvegicus)
Mammalia Bank1 30
  • 75.92 (n)
oppossum
(Monodelphis domestica)
Mammalia BANK1 31
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 51 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
chicken
(Gallus gallus)
Aves BANK1 31 30
  • 57.13 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BANK1 31
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta stumps 31
  • 8 (a)
OneToMany
Species where no ortholog for BANK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BANK1 Gene

ENSEMBL:
Gene Tree for BANK1 (if available)
TreeFam:
Gene Tree for BANK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BANK1: view image

Paralogs for BANK1 Gene

Paralogs for BANK1 Gene

genes like me logo Genes that share paralogs with BANK1: view

Variants for BANK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BANK1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs10516487 Uncertain Significance: Systemic lupus erythmatosus, association with. - 101,829,919(+) G/Ap.Arg61His MISSENSE_VARIANT,INTRON_VARIANT
rs35978636 Benign: Systemic lupus erythematosus 101,829,857(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
rs3113676 - p.Cys650Arg
rs3733197 - p.Ala383Thr

Additional dbSNP identifiers (rs#s) for BANK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BANK1 Gene

Variant ID Type Subtype PubMed ID
dgv2867n106 CNV deletion 24896259
dgv331e215 CNV deletion 23714750
esv2032362 CNV deletion 18987734
esv2728054 CNV deletion 23290073
esv2728055 CNV deletion 23290073
esv2728056 CNV deletion 23290073
esv2728057 CNV deletion 23290073
esv2728058 CNV deletion 23290073
esv2759269 CNV gain 17122850
esv3299384 CNV deletion 24192839
esv3306945 CNV mobile element insertion 20981092
esv3448193 CNV insertion 20981092
esv3564352 CNV deletion 23714750
esv3575765 CNV gain 25503493
esv3601602 CNV gain 21293372
esv3601603 CNV gain 21293372
esv3601606 CNV gain 21293372
esv3601607 CNV loss 21293372
esv3601608 CNV loss 21293372
esv8035 CNV loss 19470904
nsv1000089 CNV loss 25217958
nsv10540 CNV gain 18304495
nsv1147647 CNV duplication 26484159
nsv1149082 CNV deletion 26484159
nsv1161120 CNV deletion 26073780
nsv290436 CNV insertion 16902084
nsv4440 CNV insertion 18451855
nsv4441 CNV insertion 18451855
nsv461596 CNV gain 19166990
nsv461597 CNV loss 19166990
nsv476098 CNV novel sequence insertion 20440878
nsv478289 CNV novel sequence insertion 20440878
nsv513154 CNV loss 21212237
nsv594955 CNV gain 21841781
nsv594956 CNV loss 21841781
nsv956327 CNV deletion 24416366
nsv999861 CNV loss 25217958

Variation tolerance for BANK1 Gene

Residual Variation Intolerance Score: 88.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.40; 90.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BANK1 Gene

Human Gene Mutation Database (HGMD)
BANK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BANK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BANK1 Gene

Disorders for BANK1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for BANK1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
systemic lupus erythematosus
  • sle
lupus erythematosus
  • systemic lupus erythematosus
multifocal motor neuropathy
  • mmn
diffuse cutaneous systemic sclerosis
  • diffuse scleroderma
limited scleroderma
  • crest syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BANK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BANK1_HUMAN
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269 PubMed:18204447}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Additional Disease Information for BANK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BANK1: view

No data available for Genatlas for BANK1 Gene

Publications for BANK1 Gene

  1. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. (PMID: 18204447) Kozyrev SV … Alarcón-Riquelme ME (Nature genetics 2008) 3 4 41 54
  2. BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP(3) receptor. (PMID: 11782428) Yokoyama K … Yamamoto T (The EMBO journal 2002) 2 3 4 54
  3. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PMID: 20962850) Budarf ML … Rioux JD (Genes and immunity 2011) 3 41 54
  4. C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis. (PMID: 21480188) Coustet B … Allanore Y (Arthritis and rheumatism 2011) 2 3 54
  5. The association between BANK1 and TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis. (PMID: 21208380) Fan Y … Ye DQ (International journal of immunogenetics 2011) 2 3 54

Products for BANK1 Gene

Sources for BANK1 Gene