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

Gene ID: 84542, updated on 5-Mar-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
Expression
Ubiquitous expression in brain (RPKM 1.9), prostate (RPKM 1.7) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
2p15
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (61065871..61138032)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (61071714..61143876)
105.20220307 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
  • 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 (15) 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_2023_10

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.

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