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    SANBR SANT and BTB domain regulator of CSR [ Homo sapiens (human) ]

    Gene ID: 84542, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SANBRprovided by HGNC
    Official Full Name
    SANT and BTB domain regulator of CSRprovided by HGNC
    Primary source
    HGNC:HGNC:29387
    See related
    Ensembl:ENSG00000162929 MIM:620213; AllianceGenome:HGNC:29387
    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
    KIAA1841
    Summary
    Predicted to enable identical protein binding activity. Predicted to be involved in isotype switching. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 1.9), prostate (RPKM 1.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SANBR in Genome Data Viewer
    Location:
    2p15
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (61065871..61138032)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (61071714..61143876)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (61293006..61365167)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene pseudouridine synthase 10 Neighboring gene RNA, 5S ribosomal pseudogene 95 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15828 Neighboring gene peroxisomal biogenesis factor 13 Neighboring gene H3K27ac hESC enhancers GRCh37_chr2:61292895-61293396 and GRCh37_chr2:61293397-61293896 Neighboring gene uncharacterized LOC105374759 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:61371323-61372244 Neighboring gene C2orf74 divergent transcript Neighboring gene C2orf74 antisense RNA 1 Neighboring gene chromosome 2 open reading frame 74

    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. The uncharacterized SANT and BTB domain-containing protein SANBR inhibits class switch recombination. Zheng S, et al. J Biol Chem, 2021 Jan-Jun. PMID 33831416, Free PMC Article
    2. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. Kenny EE, et al. PLoS Genet, 2012. PMID 22412388, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906
    4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061
    5. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Jostins L, et al. Nature, 2012 Nov 1. PMID 23128233, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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

    EBI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    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

    • MGC39557

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in isotype switching ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    SANT and BTB domain regulator of class switch recombination

    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_001129993.3 → NP_001123465.1  SANT and BTB domain regulator of class switch recombination isoform a

      See identical proteins and their annotated locations for NP_001123465.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB058744, AL833595, CA421892, DA222969
      Consensus CDS
      CCDS46296.1
      UniProtKB/Swiss-Prot
      Q49AF0, Q6NSI8, Q6ZND0, Q96JI6
      Related
      ENSP00000385579.1, ENST00000402291.6
      Conserved Domains (1) summary
      pfam11822
      Location:147 → 449
      DUF3342; Domain of unknown function (DUF3342)

    2. NM_001330432.2 → NP_001317361.1  SANT and BTB domain regulator of class switch recombination isoform c

      Status: VALIDATED

      Source sequence(s)
      AB058744, AL833595, BC039298, CA421892, DA377414
      Consensus CDS
      CCDS82456.1
      UniProtKB/Swiss-Prot
      Q6NSI8
      Related
      ENSP00000482126.1, ENST00000612149.1

    3. NM_001330433.2 → NP_001317362.1  SANT and BTB domain regulator of class switch recombination isoform b

      Status: VALIDATED

      Source sequence(s)
      AC016747
      Consensus CDS
      CCDS1867.1
      UniProtKB/Swiss-Prot
      Q6NSI8

    4. NM_001330434.2 → NP_001317363.1  SANT and BTB domain regulator of class switch recombination isoform d

      Status: VALIDATED

      Source sequence(s)
      AC016747
      Conserved Domains (1) summary
      pfam11822
      Location:147 → 404
      DUF3342; Domain of unknown function (DUF3342)

    5. NM_001330435.2 → NP_001317364.1  SANT and BTB domain regulator of class switch recombination isoform b

      Status: VALIDATED

      Source sequence(s)
      AC016747
      Consensus CDS
      CCDS1867.1
      UniProtKB/Swiss-Prot
      Q6NSI8
      Related
      ENSP00000349154.3, ENST00000356719.6

    6. NM_001330436.2 → NP_001317365.1  SANT and BTB domain regulator of class switch recombination isoform a

      Status: VALIDATED

      Source sequence(s)
      AC016747
      Consensus CDS
      CCDS46296.1
      UniProtKB/Swiss-Prot
      Q49AF0, Q6NSI8, Q6ZND0, Q96JI6

    7. NM_032506.4 → NP_115895.2  SANT and BTB domain regulator of class switch recombination isoform b

      See identical proteins and their annotated locations for NP_115895.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and 3' coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AB058744, AW088127, BC070104, DB086916, DB090584
      Consensus CDS
      CCDS1867.1
      UniProtKB/Swiss-Prot
      Q6NSI8
      Related
      ENSP00000295031.5, ENST00000295031.9
      Conserved Domains (1) summary
      pfam11822
      Location:147 → 449
      DUF3342; Domain of unknown function (DUF3342)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      61065871..61138032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      61071714..61143876
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NSI8.2 GenPept UniProtKB/Swiss-Prot:Q6NSI8

    Gene LinkOut

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

    Chemical Information
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