U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 140836, updated on 2-Nov-2024

Summary

Go to the top of the page Help
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, Nov 2024]
Expression
Restricted expression toward testis (RPKM 14.5) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools