Aliases for SANBR Gene

Aliases for SANBR Gene

  • SANT And BTB Domain Regulator Of CSR 2 3
  • KIAA1841 2 3 5
  • Uncharacterized Protein KIAA1841 3 4

External Ids for SANBR Gene

Previous HGNC Symbols for SANBR Gene

  • KIAA1841

Summaries for SANBR Gene

GeneCards Summary for SANBR Gene

SANBR (SANT And BTB Domain Regulator Of CSR) is a Protein Coding gene. Diseases associated with SANBR include Peroxisome Biogenesis Disorder 11A.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SANBR Gene

Genomics for SANBR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SANBR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J061065 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.7 729 3.6 SP1 CEBPA POLR2A ZBTB10 MXD4 NONO CTCF SMAD5 TBP ZNF341 SANBR XPO1 PAPOLG ENSG00000273302 AHSA2P USP34 CCT4 LOC339803 PEX13 HSALNG0015275
GH02J060514 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -549.6 -549554 3.1 BCLAF1 JUND BCL11A SMC3 IRF4 YY1 EBF1 CBFB CTCF SPI1 SANBR REL lnc-PUS10-5 ENSG00000233953 BCL11A
GH02J060837 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.4 -225.6 -225627 5.1 BCLAF1 POLR2A BCL11A EBF1 CBFB TAF1 BHLHE40 BATF STAT5A IKZF1 PAPOLG REL LINC01185 SANBR AHSA2P PUS10 RPS12P3 C2orf74 PEX13 lnc-PUS10-2
GH02J061535 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.6 +471.2 471230 6.2 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 SSRP1 ZNF592 KLF9 XPO1 lnc-COMMD1-8 lnc-USP34-5 CCT4 USP34 AHSA2P LOC339803 RPS12P3 REL PEX13
GH02J060833 Enhancer 0.9 Ensembl ENCODE 10.1 -230.5 -230470 4.4 BCLAF1 POLR2A BCL11A EBF1 CBFB SMARCA5 TAF1 SPI1 ZNF24 IKZF1 lnc-PUS10-2 LINC01185 REL PAPOLG SANBR RPL21P33
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SANBR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SANBR

Genomic Locations for SANBR Gene

Latest Assembly
chr2:61,065,871-61,138,034
(GRCh38/hg38)
Size:
72,164 bases
Orientation:
Plus strand

Previous Assembly
chr2:61,293,006-61,365,167
(GRCh37/hg19 by Entrez Gene)
Size:
72,162 bases
Orientation:
Plus strand

chr2:61,293,006-61,391,960
(GRCh37/hg19 by Ensembl)
Size:
98,955 bases
Orientation:
Plus strand

Genomic View for SANBR Gene

Genes around SANBR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SANBR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SANBR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SANBR Gene

Proteins for SANBR Gene

  • Protein details for SANBR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NSI8-K1841_HUMAN
    Recommended name:
    Uncharacterized protein KIAA1841
    Protein Accession:
    Q6NSI8
    Secondary Accessions:
    • Q49AF0
    • Q6ZND0
    • Q96JI6

    Protein attributes for SANBR Gene

    Size:
    718 amino acids
    Molecular mass:
    82007 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB47470.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SANBR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SANBR Gene

Post-translational modifications for SANBR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SANBR Gene

Domains & Families for SANBR Gene

Gene Families for SANBR Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SANBR Gene

InterPro:

Graphical View of Domain Structure for InterPro Entry

Q6NSI8

UniProtKB/Swiss-Prot:

K1841_HUMAN :
  • Belongs to the KIAA1841 family.
Family:
  • Belongs to the KIAA1841 family.
genes like me logo Genes that share domains with SANBR: view

No data available for Suggested Antigen Peptide Sequences for SANBR Gene

Function for SANBR Gene

Phenotypes From GWAS Catalog for SANBR Gene

Phenotypes for SANBR Gene

genes like me logo Genes that share phenotypes with SANBR: view

miRNA for SANBR Gene

miRTarBase miRNAs that target SANBR

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SANBR

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SANBR Gene

Localization for SANBR Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SANBR gene
Compartment Confidence
extracellular 2
nucleus 2
cytosol 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SANBR Gene

Pathways & Interactions for SANBR Gene

PathCards logo

SuperPathways for SANBR Gene

No Data Available

Interacting Proteins for SANBR Gene

Gene Ontology (GO) - Biological Process for SANBR Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SANBR Gene

Drugs & Compounds for SANBR Gene

No Compound Related Data Available

Transcripts for SANBR Gene

mRNA/cDNA for SANBR Gene

7 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SANBR

Alternative Splicing Database (ASD) splice patterns (SP) for SANBR Gene

No ASD Table

Relevant External Links for SANBR Gene

GeneLoc Exon Structure for
SANBR

Expression for SANBR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SANBR

SOURCE GeneReport for Unigene cluster for SANBR Gene:

Hs.468653
genes like me logo Genes that share expression patterns with SANBR: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SANBR Gene

Orthologs for SANBR Gene

This gene was present in the common ancestor of animals.

Orthologs for SANBR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIAA1841 29 30
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KIAA1841 29 30
  • 92.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia 0610010F05Rik 29 16 30
  • 88.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1305110 29
  • 87.19 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia KIAA1841 30
  • 82 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KIAA1841 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KIAA1841 29 30
  • 77.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KIAA1841 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kiaa1841 29
  • 70.35 (n)
Str.19410 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.34417 29
Zebrafish
(Danio rerio)
Actinopterygii LOC793832 29
  • 62.82 (n)
si:ch211-189k9.2 30
  • 59 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG6761 30
  • 20 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 41 (a)
OneToOne
Species where no ortholog for SANBR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SANBR Gene

ENSEMBL:
Gene Tree for SANBR (if available)
TreeFam:
Gene Tree for SANBR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SANBR: view image
Alliance of Genome Resources:
Additional Orthologs for SANBR

Paralogs for SANBR Gene

No data available for Paralogs for SANBR Gene

Variants for SANBR Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SANBR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SANBR Gene

Variant ID Type Subtype PubMed ID
esv2760616 CNV loss 21179565
nsv1116381 CNV deletion 24896259
nsv1131468 CNV deletion 24896259

Variation tolerance for SANBR Gene

Residual Variation Intolerance Score: 41.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SANBR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SANBR
Leiden Open Variation Database (LOVD)
SANBR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SANBR Gene

Disorders for SANBR Gene

MalaCards: The human disease database

(1) MalaCards diseases for SANBR Gene - From: COP

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 11a
  • pbd11a
- elite association - COSMIC cancer census association via MalaCards
Search SANBR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SANBR

genes like me logo Genes that share disorders with SANBR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SANBR Gene

Publications for SANBR Gene

  1. 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. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
  2. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  3. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. (PMID: 28986522) Antoniali G … Tell G (Nature communications 2017) 3

Products for SANBR Gene

Sources for SANBR Gene