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    BANF2 BANF family member 2 [ Homo sapiens (human) ]

    Gene ID: 140836, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BANF2provided by HGNC
    Official Full Name
    BANF family member 2provided by HGNC
    Primary source
    HGNC:HGNC:16172
    See related
    Ensembl:ENSG00000125888 AllianceGenome:HGNC:16172
    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
    BAF2; BAFL; BAF-L; C20orf179
    Summary
    Enables identical protein binding activity. Predicted to be involved in chromosome organization. Located in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 14.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See BANF2 in Genome Data Viewer
    Location:
    20p12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (17693672..17735871)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (17744826..17787013)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (17674317..17716516)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ras homolog family member G pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr20:17583143-17583644 Neighboring gene destrin, actin depolymerizing factor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17592387-17593110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17594559-17595282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17595283-17596006 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17616513-17617386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17617387-17618260 Neighboring gene ribosome binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17565 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17629025-17629728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12694 Neighboring gene Sharpr-MPRA regulatory region 8855 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:17660181-17661380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:17661572-17662244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12697 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17566 Neighboring gene uncharacterized LOC105372547 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17731191-17731743 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:17733069-17733774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17745451-17745952 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59976 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:17782572-17782760 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59986 Neighboring gene uncharacterized LOC107985440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17815795-17816372 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:17829988-17831187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17839885-17840458 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17851770-17852498 Neighboring gene uncharacterized LOC105372548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:17856497-17857399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:17862693-17863606

    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 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. BAF-L Modulates Histone-to-Protamine Transition during Spermiogenesis. Huang C, et al. Int J Mol Sci, 2022 Feb 11. PMID 35216101, Free PMC Article
    2. Barrier-to-autointegration factor-like (BAF-L): a proposed regulator of BAF. Tifft KE, et al. Exp Cell Res, 2006 Feb 15. PMID 16337940
    3. LEM-domain proteins are lost during human spermiogenesis but BAF and BAF-L persist. Elkhatib RA, et al. Reproduction, 2017 Oct. PMID 28684548
    4. Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Robertson NG, et al. Genomics, 1994 Sep 1. PMID 7829101
    5. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BAF-L Modulates Histone-to-Protamine Transition during Spermiogenesis.
      Title: BAF-L Modulates Histone-to-Protamine Transition during Spermiogenesis.
    2. BAF and BAF-L might contribute to the shaping of the spermatozoon nucleus and, after fertilisation, its transition to the male pronucleus.
      Title: LEM-domain proteins are lost during human spermiogenesis but BAF and BAF-L persist.
    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.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC62093, MGC72082

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in condensed chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    barrier-to-autointegration factor-like protein
    Names
    barrier to autointegration factor 2
    testis secretory sperm-binding protein Li 212a

    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_001014977.4 → NP_001014977.2  barrier-to-autointegration factor-like protein isoform 1

      See identical proteins and their annotated locations for NP_001014977.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA394107, AW022487, BC054871
      Consensus CDS
      CCDS13129.1
      UniProtKB/Swiss-Prot
      D3DW25, F5H3F6, Q7Z4M6, Q9H503
      UniProtKB/TrEMBL
      A0A140VK85
      Related
      ENSP00000367036.3, ENST00000377805.7
      Conserved Domains (1) summary
      cl03803
      Location:3 → 89
      BAF; Barrier to autointegration factor

    2. NM_001159495.2 → NP_001152967.1  barrier-to-autointegration factor-like protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon and an upstream in-frame start codon, compared to variant 1. The resulting isoform (2) has a longer N-terminus compared to isoform 1.
      Source sequence(s)
      AA394107, AL132765, AW022487
      Consensus CDS
      CCDS54449.1
      UniProtKB/Swiss-Prot
      Q9H503
      Related
      ENSP00000439128.1, ENST00000545418.2
      Conserved Domains (1) summary
      cl03803
      Location:10 → 96
      BAF; Barrier to autointegration factor

    3. NM_178477.5 → NP_848572.3  barrier-to-autointegration factor-like protein isoform 1

      See identical proteins and their annotated locations for NP_848572.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript but encodes the shorter isoform (1). Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA394107, AW022487, BC054871, BC062735
      Consensus CDS
      CCDS13129.1
      UniProtKB/Swiss-Prot
      D3DW25, F5H3F6, Q7Z4M6, Q9H503
      UniProtKB/TrEMBL
      A0A140VK85
      Related
      ENSP00000246090.5, ENST00000246090.6
      Conserved Domains (1) summary
      cl03803
      Location:3 → 89
      BAF; Barrier to autointegration factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      17693672..17735871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260668.4 → XP_005260725.1  barrier-to-autointegration factor-like protein isoform X2

      See identical proteins and their annotated locations for XP_005260725.1

      UniProtKB/Swiss-Prot
      D3DW25, F5H3F6, Q7Z4M6, Q9H503
      UniProtKB/TrEMBL
      A0A140VK85
      Conserved Domains (1) summary
      cl03803
      Location:3 → 89
      BAF; Barrier to autointegration factor

    2. XM_011529170.2 → XP_011527472.1  barrier-to-autointegration factor-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527472.1

      Conserved Domains (1) summary
      cl03803
      Location:8 → 94
      BAF; Barrier to autointegration factor

    3. XM_011529171.4 → XP_011527473.1  barrier-to-autointegration factor-like protein isoform X1

      See identical proteins and their annotated locations for XP_011527473.1

      Conserved Domains (1) summary
      cl03803
      Location:8 → 94
      BAF; Barrier to autointegration factor

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      17744826..17787013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323026.1 → XP_054179001.1  barrier-to-autointegration factor-like protein isoform X2

    2. XM_054323024.1 → XP_054178999.1  barrier-to-autointegration factor-like protein isoform X1

    3. XM_054323025.1 → XP_054179000.1  barrier-to-autointegration factor-like protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H503.1 GenPept UniProtKB/Swiss-Prot:Q9H503

    Gene LinkOut

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

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