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] See more...

Aliases for BTBD16 Gene

Aliases for BTBD16 Gene

  • BTB Domain Containing 16 2 3 5
  • BTB/POZ Domain-Containing Protein 16 3 4
  • C10orf87 3 4
  • 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH10J122284 Enhancer 1 Ensembl ENCODE dbSUPER 37.5 +16.0 15978 4.8 ZIC2 ZNF341 RAD51 USF1 FOS POLR2A ZKSCAN1 SMARCA4 JUND MAZ HSALNG0081195 BTBD16 C10orf88 HTRA1
GH10J122301 Enhancer 1 Ensembl ENCODE dbSUPER 35.3 +30.6 30573 1.2 SKI FOXA2 CEBPB CEBPG ZBTB33 JUND SMAD4 KLF17 HOMEZ RXRA BTBD16 HTRA1 HSALNG0081195 HSALNG0081198
GH10J122258 Enhancer 0.9 Ensembl ENCODE dbSUPER 42.1 -11.9 -11877 1.3 MAFF POLR2A RBM22 MAFK GLIS1 BHLHE40 ZFP69B AGO2 BACH1 BTBD16 HSALNG0081194 piR-43583-062
GH10J122279 Enhancer 1 Ensembl ENCODE dbSUPER 36.8 +9.1 9134 0.9 CTCF RAD21 TRIM22 ZBTB26 SMC3 ZNF654 ZFP64 YY1 PPARG ZNF143 BTBD16 HSALNG0081195
GH10J122263 Enhancer 0.8 Ensembl ENCODE dbSUPER 41.3 -5.9 -5923 2.6 NR3C1 CEBPB RCOR1 NFIB ESR1 NFIA SETDB1 BTBD16 HSALNG0081194 piR-43583-062
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTBD16 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTBD16

Top Transcription factor binding sites by QIAGEN in the BTBD16 gene promoter:
  • Brachyury
  • C/EBPbeta
  • Cart-1
  • En-1
  • HNF-1
  • HNF-1A
  • Nkx2-2
  • PPAR-alpha
  • SRY

Genomic Locations for BTBD16 Gene

Genomic Locations for BTBD16 Gene
chr10:122,270,828-122,338,170
(GRCh38/hg38)
Size:
67,343 bases
Orientation:
Plus strand
chr10:124,030,821-124,097,677
(GRCh37/hg19)
Size:
66,857 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:
  • BTB/POZ domain-containing protein 16 (BTBDG_HUMAN)
genes like me logo Genes that share domains with BTBD16: view

No data available for Graphical View of Domain Structure and 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:
  • Btbd16 Btbd16<tm2b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD16

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
mitochondrion 1
nucleus 1
cytosol 1
peroxisome 0

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for BTBD16 Gene

Pathways & Interactions for BTBD16 Gene

PathCards logo

SuperPathways for BTBD16 Gene

No Data Available

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

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD16

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

Expression for BTBD16 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BTBD16

SOURCE GeneReport for Unigene cluster for BTBD16 Gene:

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

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 31 30
  • 98.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BTBD16 31 30
  • 83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BTBD16 31 30
  • 82.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Btbd16 17 31 30
  • 79.02 (n)
rat
(Rattus norvegicus)
Mammalia Btbd16 30
  • 78.92 (n)
oppossum
(Monodelphis domestica)
Mammalia BTBD16 31
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD16 31
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTBD16 31
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii btbd16 31 30
  • 48.75 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta gcl 31
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gcl-1 31
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BTBD16: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTBD16 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs193920863 Uncertain Significance: Malignant tumor of prostate 122,276,854(+) C/T MISSENSE_VARIANT
rs1048347 - p.His439Pro
rs10510108 - p.Gln472Arg
rs2421013 - p.Arg318Gln
rs986178 - p.Gly331Asp

Additional dbSNP identifiers (rs#s) for BTBD16 Gene

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 41 54
  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 41 54
  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 41 54
  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 41 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for BTBD16 Gene

Sources for BTBD16 Gene