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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BANF2 Gene

protein-coding   GIFtS: 44
GCID: GC20P017680

Barrier To Autointegration Factor 2

(Previous name: chromosome 20 open reading frame 179)
(Previous symbol: C20orf179)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Barrier To Autointegration Factor 21 2     BAFL2 3
C20orf1791 2 3     Chromosome 20 Open Reading Frame 1791
Barrier-To-Autointegration Factor 22 3     BAF22
BAF-L2 3     Barrier-To-Autointegration Factor-Like Protein2

External Ids:    HGNC: 161721   Entrez Gene: 1408362   Ensembl: ENSG000001258887   UniProtKB: Q9H5033   

Export aliases for BANF2 gene to outside databases

Previous GC identifer: GC20P017630


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for BANF2 Gene: 
BANF2 (barrier to autointegration factor 2) is a protein-coding gene. Diseases associated with BANF2 include prostatitis. GO annotations related to this gene include DNA binding. An important paralog of this gene is BANF1.

UniProtKB/Swiss-Prot: BAFL_HUMAN, Q9H503
Function: May play a role in BANF1 regulation and influence tissue-specific roles of BANF1




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BANF2 gene promoter:
         AhR   GR   AP-1   STAT3   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBANF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for BANF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BANF2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.1   Ensembl cytogenetic band:  20p12.1   HGNC cytogenetic band: 20p12.1

BANF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BANF2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P017680:  view genomic region     (about GC identifiers)

Start:
17,674,317 bp from pter      End:
17,716,517 bp from pter
Size:
42,201 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BAFL_HUMAN, Q9H503 (See protein sequence)
Recommended Name: Barrier-to-autointegration factor-like protein  
Size: 90 amino acids; 10309 Da
Subunit: Homodimer. Heterodimerizes with BANF1
Subcellular location: Nucleus. Cytoplasm
Caution: In contrast to BANF1, it does not seems to bind DNA
Secondary accessions: D3DW25 F5H3F6 Q7Z4M6
Alternative splicing: 2 isoforms:  Q9H503-1   Q9H503-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BANF2: NX_Q9H503

Explore proteomics data for BANF2 at MOPED 

BANF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

BANF2 Protein Expression

REFSEQ proteins (3 alternative transcripts): 
NP_001014977.2  NP_001152967.1  NP_848572.3  

ENSEMBL proteins: 
 ENSP00000439128   ENSP00000398738   ENSP00000367036   ENSP00000246090  

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Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA--
GO:0005730NOT nucleolus IDA--
GO:0005737cytoplasm IEA--

BANF2 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR004122 BAF_prot

Graphical View of Domain Structure for InterPro Entry Q9H503

ProtoNet protein and cluster: Q9H503

1 Blocks protein domain: IPB004122 Barrier to autointegration factor

UniProtKB/Swiss-Prot: BAFL_HUMAN, Q9H503
Similarity: Belongs to the BAF family


BANF2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: BAFL_HUMAN, Q9H503
Function: May play a role in BANF1 regulation and influence tissue-specific roles of BANF1

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding IEA--
     
BANF2 for ontologies           About GeneDecksing


Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BANF2

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for BANF2 (ENSP000002460904) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
REXO2ENSP000002658814STRING: ENSP00000265881
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BANF2 (BAFL)

Search CenterWatch for drugs/clinical trials and news about BANF2 / BAFL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BANF2 gene (3 alternative transcripts): 
NM_001014977.3  NM_001159495.1  NM_178477.4  

Unigene Cluster for BANF2:

Barrier to autointegration factor 2
Hs.115366  [show with all ESTs]
Unigene Representative Sequence: BQ428794
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000545418(uc010zrs.1) ENST00000427254 ENST00000377805(uc002wqa.2)
ENST00000246090(uc002wpz.2) ENST00000467330
miRNA
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Additional mRNA sequence: 

BC054871.1 BC062735.1 

2 DOTS entries:

DT.309388  DT.87046979 

19 AceView cDNA sequences:

NM_178477 AA397912 AW022487 AA442269 AI150321 BC054871 BC062735 BV205077 
AA862555 BU561046 AA382909 AI075928 AA394107 AI066604 AI204602 AA629341 
BG459855 BU853192 BQ428794 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for BANF2    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:              -                           
SP2:              -     -                     
SP3:                                          


ECgene alternative splicing isoforms for BANF2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BANF2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
BANF2 Expression
About this image


See BANF2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BANF2

SOURCE GeneReport for Unigene cluster: Hs.115366

UniProtKB/Swiss-Prot: BAFL_HUMAN, Q9H503
Tissue specificity: Expressed strongly in testis and pancreas. Also detected in brain, colon, liver, lung, ovary,
placenta, prostate, small intestine, spleen and thymus. Not detected in heart, kidney and skeletal muscle

    SABiosciences Custom PCR Arrays for BANF2
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BANF2

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for BANF2 gene from 4/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Banf21 , 5 barrier to autointegration factor 21, 5 85.56(n)1
87.78(a)1
  2 (70.91 cM)5
4031711  NM_001044750.11  NP_001038215.11 
 1440330595 
lizard
(Anolis carolinensis)
Reptilia BANF26
barrier to autointegration factor 2
46(a)
1 ↔ 1
4(74405798-74420888)
fruit fly
(Drosophila melanogaster)
Insecta baf6
barrier to autointegration factor
36(a)
1 → many
2L(8029462-8030565)
worm
(Caenorhabditis elegans)
Secernentea baf-16
Barrier-to-autointegration factor 1
38(a)
1 → many
III(9467457-9468066)


ENSEMBL Gene Tree for BANF2 (if available)
TreeFam Gene Tree for BANF2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for BANF2 gene
BANF12  
1 SIMAP similar gene for BANF2 using alignment to 2 protein entries:     BAFL_HUMAN (see all proteins):
BANF1

BANF2 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/1015 SNPs in BANF2 are shown (see all 1015)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1843229291,2
--17672364(+) TGTGCA/GCTTAT 1 -- us2k10--------
rs1884783361,2
C--17672456(+) AAGTGC/TCTGTC 1 -- us2k10--------
rs738983931,2
C,F--17672579(+) TAATCA/GTCTTG 1 -- us2k12Minor allele frequency- G:0.10WA 120
rs61057911,2
C,F,H--17672583(+) CATCTT/GGTGAC 1 -- us2k15Minor allele frequency- G:0.01NS EA NA 540
rs1474992831,2
--17672589(+) GTGACA/GCTTCT 1 -- us2k10--------
rs1136132961,2
C--17672677(+) CAAAA-/AT/TA 
        
TATAT
1 -- us2k11CSA 2
rs1150185051,2
C,F--17672762(+) CTTCTG/ACCAGC 1 -- us2k11Minor allele frequency- A:0.02WA 118
rs1811929191,2
--17672814(+) CAGCCC/TCTGAT 1 -- us2k10--------
rs1384880181,2
--17672825(+) CTGAAA/TGTGCA 1 -- us2k10--------
rs1440209821,2
--17672891(+) CTCTTA/CTTCAG 1 -- us2k10--------

HapMap Linkage Disequilibrium report for BANF2 (17674317 - 17716517 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for BANF2: --
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers for resequencing BANF2
DNA2.0 Custom Variant and Variant Library Synthesis for BANF2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
2 diseases for BANF2:    About MalaCards
prostatitis    


BANF2 for disorders           About GeneDecksing

Genetic Association Database (GAD): BANF2
Human Genome Epidemiology (HuGE) Navigator: BANF2 (1 document)

Export disorders for BANF2 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for BANF2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with BANF2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Barrier-to-autointegration factor-like (BAF-L): a proposed regulator of BAF. (PubMed id 16337940)1, 2, 9 Tifft K.E.... Wilson K.L. (2006)
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
  5. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. (PubMed id 7829101)1, 2 Robertson N.G....Morton C.C. (1994)
  6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 140836 HGNC: 16172 AceView: C20orf179 Ensembl:ENSG00000125888 euGenes: HUgn140836
ECgene: BANF2 H-InvDB: BANF2

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for BANF2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for BANF2 gene:
Search GeneIP for patents involving BANF2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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