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Aliases for BTBD16 Gene

Aliases for BTBD16 Gene

  • BTB Domain Containing 16 2 3 5
  • C10orf87 3 4
  • BTB/POZ Domain-Containing Protein 16 3
  • Chromosome 10 Open Reading Frame 87 2
  • BTB (POZ) Domain Containing 16 2

External Ids for BTBD16 Gene

Previous HGNC Symbols for BTBD16 Gene

  • C10orf87

Previous GeneCards Identifiers for BTBD16 Gene

  • GC10P124022
  • GC10P117661

Summaries for BTBD16 Gene

Entrez Gene Summary for BTBD16 Gene

  • This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]

GeneCards Summary for BTBD16 Gene

BTBD16 (BTB Domain Containing 16) is a Protein Coding gene. Diseases associated with BTBD16 include Bipolar Disorder. An important paralog of this gene is GMCL1.

Additional gene information for BTBD16 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD16 Gene

Genomics for BTBD16 Gene

GeneHancer (GH) Regulatory Elements for BTBD16 Gene

Promoters and enhancers for BTBD16 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
GH10I122271 Promoter 0.5 EPDnew 550.8 +0.5 451 0.1 BTBD16 GC10P122346
GH10I122306 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.7 +38.6 38576 6.5 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 FOS REST BTBD16 IKZF5 BUB3 NSMCE4A GC10P122346
GH10I122301 Enhancer 0.9 ENCODE dbSUPER 35 +30.5 30493 0.2 SOX13 FOXA2 KLF17 MAX CEBPG ZNF644 RAD21 RARA YY1 HOMEZ BTBD16 GC10P122346
GH10I122284 Enhancer 0.8 ENCODE dbSUPER 37.5 +15.9 15852 4.5 ZBTB6 ZNF449 BACH1 ZIC2 ZKSCAN1 RAD51 JUND GLIS2 ZNF23 POLR2A BTBD16 C10orf88 HTRA1 GC10P122346
GH10I122258 Enhancer 0.7 ENCODE dbSUPER 42.1 -11.9 -11939 1.2 ZFP69B POLR2A GLIS1 BACH1 MAFK BTBD16 GC10M122162
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BTBD16 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTBD16 gene promoter:

Genomic Locations for BTBD16 Gene

Genomic Locations for BTBD16 Gene
chr10:122,270,828-122,338,162
(GRCh38/hg38)
Size:
67,335 bases
Orientation:
Plus strand
chr10:124,030,821-124,097,677
(GRCh37/hg19)

Genomic View for BTBD16 Gene

Genes around BTBD16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD16 Gene

Proteins for BTBD16 Gene

  • Protein details for BTBD16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q32M84-BTBDG_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein 16
    Protein Accession:
    Q32M84
    Secondary Accessions:
    • A6NM63
    • Q4VXL1
    • Q96LN0

    Protein attributes for BTBD16 Gene

    Size:
    506 amino acids
    Molecular mass:
    58481 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BTBD16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD16 Gene

Post-translational modifications for BTBD16 Gene

No Post-translational modifications

Other Protein References for BTBD16 Gene

No data available for DME Specific Peptides for BTBD16 Gene

Domains & Families for BTBD16 Gene

Gene Families for BTBD16 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BTBD16 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BTBD16 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BTBD16: view

No data available for UniProtKB/Swiss-Prot for BTBD16 Gene

Function for BTBD16 Gene

Phenotypes From GWAS Catalog for BTBD16 Gene

genes like me logo Genes that share phenotypes with BTBD16: view

Animal Models for BTBD16 Gene

MGI Knock Outs for BTBD16:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BTBD16 Gene

Localization for BTBD16 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 BTBD16 gene
Compartment Confidence
nucleus 4
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BTBD16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IBA --
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with BTBD16: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BTBD16 Gene

Pathways & Interactions for BTBD16 Gene

SuperPathways for BTBD16 Gene

No Data Available

Interacting Proteins for BTBD16 Gene

Selected Interacting proteins: Q32M84-BTBDG_HUMAN for BTBD16 Gene via UniProtKB IID

Gene Ontology (GO) - Biological Process for BTBD16 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BTBD16 Gene

Drugs & Compounds for BTBD16 Gene

No Compound Related Data Available

Transcripts for BTBD16 Gene

mRNA/cDNA for BTBD16 Gene

(8) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BTBD16 Gene

BTB (POZ) domain containing 16:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD16 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b
SP1:
SP2:

Relevant External Links for BTBD16 Gene

GeneLoc Exon Structure for
BTBD16
ECgene alternative splicing isoforms for
BTBD16

Expression for BTBD16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTBD16 Gene

mRNA differential expression in normal tissues according to GTEx for BTBD16 Gene

This gene is overexpressed in Bladder (x13.7), Skin - Sun Exposed (Lower leg) (x6.1), and Testis (x5.9).

Protein differential expression in normal tissues from HIPED for BTBD16 Gene

This gene is overexpressed in Stomach (27.1), Prostate (20.0), Ovary (9.8), and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BTBD16 Gene



NURSA nuclear receptor signaling pathways regulating expression of BTBD16 Gene:

BTBD16

SOURCE GeneReport for Unigene cluster for BTBD16 Gene:

Hs.422466
genes like me logo Genes that share expression patterns with BTBD16: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 BTBD16 Gene

Orthologs for BTBD16 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTBD16 33 34
  • 98.68 (n)
dog
(Canis familiaris)
Mammalia BTBD16 33 34
  • 83 (n)
cow
(Bos Taurus)
Mammalia BTBD16 33 34
  • 82.16 (n)
mouse
(Mus musculus)
Mammalia Btbd16 33 16 34
  • 79.02 (n)
rat
(Rattus norvegicus)
Mammalia Btbd16 33
  • 78.92 (n)
oppossum
(Monodelphis domestica)
Mammalia BTBD16 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD16 34
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTBD16 34
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii btbd16 33 34
  • 48.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta gcl 34
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gcl-1 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToMany
Species where no ortholog for BTBD16 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for BTBD16 Gene

ENSEMBL:
Gene Tree for BTBD16 (if available)
TreeFam:
Gene Tree for BTBD16 (if available)

Paralogs for BTBD16 Gene

Paralogs for BTBD16 Gene

genes like me logo Genes that share paralogs with BTBD16: view

Variants for BTBD16 Gene

Sequence variations from dbSNP and Humsavar for BTBD16 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs193920863 uncertain-significance, Malignant tumor of prostate 122,276,854(+) C/T coding_sequence_variant, intron_variant, missense_variant
rs1000038018 -- 122,309,739(+) C/T intron_variant
rs1000087639 -- 122,270,044(+) C/G upstream_transcript_variant
rs1000119579 -- 122,287,167(+) T/G intron_variant
rs1000184541 -- 122,276,851(+) C/G coding_sequence_variant, intron_variant, missense_variant

Variation tolerance for BTBD16 Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.07; 80.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BTBD16 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BTBD16 Gene

Disorders for BTBD16 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BTBD16 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bipolar disorder
  • major affective disorder 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BTBD16

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BTBD16: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BTBD16 Gene

Publications for BTBD16 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. Genome-wide association study of bipolar disorder in European American and African American individuals. (PMID: 19488044) Smith EN … Kelsoe JR (Molecular psychiatry 2009) 3 44 58
  3. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl GR … Lerman C (Archives of general psychiatry 2008) 3 44 58
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for BTBD16 Gene

Sources for BTBD16 Gene

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