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BNC2 basonuclin 2 [ Homo sapiens (human) ]

Gene ID: 54796, updated on 8-May-2016
Official Symbol
BNC2provided by HGNC
Official Full Name
basonuclin 2provided by HGNC
Primary source
HGNC:HGNC:30988
See related
Ensembl:ENSG00000173068 HPRD:12274; MIM:608669; Vega:OTTHUMG00000019593
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
BSN2
Orthologs
Location:
9p22.2
Exon count:
18
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (16409503..16870838, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (16409501..16870786, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 171 Neighboring gene uncharacterized LOC100506331 Neighboring gene chromosome 9 open reading frame 92 Neighboring gene uncharacterized LOC105375982 Neighboring gene LSM1 homolog, mRNA degradation associated pseudogene 1 Neighboring gene uncharacterized LOC105375983 Neighboring gene ribosomal protein L31 pseudogene 42 Neighboring gene centlein Neighboring gene SAMM50 sorting and assembly machinery component pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2.
NHGRI GWA Catalog
A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
NHGRI GWA Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Web-based, participant-driven studies yield novel genetic associations for common traits.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ20043, FLJ34928, DKFZp686A01127

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
endochondral bone growth IEA
Inferred from Electronic Annotation
more info
 
mesenchyme development IEA
Inferred from Electronic Annotation
more info
 
palate development IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
tongue development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
zinc finger protein basonuclin-2

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_001317939.1NP_001304868.1  zinc finger protein basonuclin-2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, contains an alternate penultimate exon and uses an alternate splice site in the 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL449983, CR933649, DB282126
    UniProtKB/TrEMBL
    Q5H9S4
    Conserved Domains (1) summary
    sd00017
    Location:401421
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_001317940.1NP_001304869.1  zinc finger protein basonuclin-2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform 3) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK299073, AL449983, DB282126
    UniProtKB/TrEMBL
    B4DR27
    Conserved Domains (1) summary
    sd00017
    Location:942961
    ZF_C2H2; C2H2 Zn finger [structural motif]
  3. NM_017637.5NP_060107.3  zinc finger protein basonuclin-2 isoform 1

    See identical proteins and their annotated locations for NP_060107.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK131398, AL449983, AY438376, DA494074, DB282126
    Consensus CDS
    CCDS6482.2
    UniProtKB/Swiss-Prot
    Q6ZN30
    Related
    ENSP00000370047, OTTHUMP00000125286, ENST00000380672, OTTHUMT00000216901
    Conserved Domains (1) summary
    sd00017
    Location:10371056
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    16409503..16870838 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517933.1XP_011516235.1  

    Related
    ENSP00000408370, OTTHUMP00000125287, ENST00000418777, OTTHUMT00000216902
    Conserved Domains (1) summary
    sd00017
    Location:401421
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. XM_011517924.1XP_011516226.1  

    Conserved Domains (1) summary
    sd00017
    Location:10421061
    ZF_C2H2; C2H2 Zn finger [structural motif]
  3. XM_011517921.1XP_011516223.1  

    Conserved Domains (1) summary
    sd00017
    Location:11121131
    ZF_C2H2; C2H2 Zn finger [structural motif]
  4. XM_011517926.1XP_011516228.1  

    Conserved Domains (1) summary
    sd00017
    Location:975994
    ZF_C2H2; C2H2 Zn finger [structural motif]
  5. XM_011517923.1XP_011516225.1  

    Conserved Domains (1) summary
    sd00017
    Location:10511070
    ZF_C2H2; C2H2 Zn finger [structural motif]
  6. XM_011517922.1XP_011516224.1  

    Conserved Domains (1) summary
    sd00017
    Location:10981117
    ZF_C2H2; C2H2 Zn finger [structural motif]
  7. XM_011517925.1XP_011516227.1  

    Conserved Domains (1) summary
    sd00017
    Location:9851004
    ZF_C2H2; C2H2 Zn finger [structural motif]
  8. XM_011517927.1XP_011516229.1  

    Conserved Domains (1) summary
    sd00017
    Location:910929
    ZF_C2H2; C2H2 Zn finger [structural motif]
  9. XM_011517930.1XP_011516232.1  

    See identical proteins and their annotated locations for XP_011516232.1

    Conserved Domains (1) summary
    sd00017
    Location:849868
    ZF_C2H2; C2H2 Zn finger [structural motif]
  10. XM_011517929.1XP_011516231.1  

    See identical proteins and their annotated locations for XP_011516231.1

    Conserved Domains (1) summary
    sd00017
    Location:849868
    ZF_C2H2; C2H2 Zn finger [structural motif]
  11. XM_011517932.1XP_011516234.1  

    See identical proteins and their annotated locations for XP_011516234.1

    Conserved Domains (1) summary
    sd00017
    Location:849868
    ZF_C2H2; C2H2 Zn finger [structural motif]
  12. XM_011517931.1XP_011516233.1  

    See identical proteins and their annotated locations for XP_011516233.1

    Conserved Domains (1) summary
    sd00017
    Location:849868
    ZF_C2H2; C2H2 Zn finger [structural motif]
  13. XM_011517928.1XP_011516230.1  

    Conserved Domains (1) summary
    sd00017
    Location:485505
    ZF_C2H2; C2H2 Zn finger [structural motif]
  14. XM_011517934.1XP_011516236.1  

    Conserved Domains (1) summary
    sd00017
    Location:269289
    ZF_C2H2; C2H2 Zn finger [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    16409018..16870617 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)