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Aliases for BTBD10 Gene

Aliases for BTBD10 Gene

  • BTB Domain Containing 10 2 3 5
  • Glucose Metabolism-Related Protein 1 3 4
  • BTB (POZ) Domain Containing 10 2 3
  • GMRP1 3 4
  • BTB (Broad-Complex Tramtrack And Bric-A-Brac/Pox Virus And Zinc Finger) Domain-Containing Protein 10 3
  • BTB/POZ Domain-Containing Protein 10 3
  • K+ Channel Tetramerization Protein 3
  • GMRP-1 3

External Ids for BTBD10 Gene

Previous GeneCards Identifiers for BTBD10 Gene

  • GC11M013367
  • GC11M013089

Summaries for BTBD10 Gene

GeneCards Summary for BTBD10 Gene

BTBD10 (BTB Domain Containing 10) is a Protein Coding gene. Diseases associated with BTBD10 include Amyotrophic Lateral Sclerosis 1. An important paralog of this gene is KCTD20.

UniProtKB/Swiss-Prot for BTBD10 Gene

  • Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and accelerating the growth of pancreatic beta cells.

Additional gene information for BTBD10 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD10 Gene

Genomics for BTBD10 Gene

Regulatory Elements for BTBD10 Gene

Enhancers for BTBD10 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H013487 1.1 Ensembl ENCODE 10.5 -24.2 -24240 0 CTCF TFAP4 ZNF792 SAP130 ARID4B DMAP1 ZNF644 KMT2B RAD21 YY1 BTBD10 ENSG00000255401 PIR60789
GH11H013434 0.5 ENCODE 21.5 +28.7 28703 0 ZNF623 PRDM1 ATF2 BTBD10 GC11P013405
GH11H013448 0.9 Ensembl ENCODE 10.3 +14.3 14296 0 CEBPB ZNF175 CEBPG ATF2 ATF3 ATF7 TRIM24 FOXJ2 BTBD10 PTH GC11P013405
GH11H013108 1.3 Ensembl ENCODE dbSUPER 5.9 +352.7 352746 3 HDAC1 PKNOX1 RB1 TAL1 EBF1 BATF FOSL1 CCNT2 TCF12 GATA3 LINC00958 BTBD10 LOC105376558 GC11P013015
GH11H013461 1.1 ENCODE 5.4 +0.5 475 2 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 SP3 SP5 BTBD10 GC11P013405
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTBD10 on UCSC Golden Path with GeneCards custom track

Promoters for BTBD10 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000037206 197 1801 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF207 SP3 SP5

Genomic Location for BTBD10 Gene

Chromosome:
11
Start:
13,387,996 bp from pter
End:
13,463,297 bp from pter
Size:
75,302 bases
Orientation:
Minus strand

Genomic View for BTBD10 Gene

Genes around BTBD10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD10 Gene

Proteins for BTBD10 Gene

  • Protein details for BTBD10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSF8-BTBDA_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein 10
    Protein Accession:
    Q9BSF8
    Secondary Accessions:
    • B7Z228
    • Q86WG1

    Protein attributes for BTBD10 Gene

    Size:
    475 amino acids
    Molecular mass:
    53779 Da
    Quaternary structure:
    • Interacts (via C-terminal 330-amino-acid region) with AKT1; AKT2 and AKT3. Interacts with PPP2CA and PPP1CA.

    Alternative splice isoforms for BTBD10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD10 Gene

Post-translational modifications for BTBD10 Gene

  • Ubiquitination at Lys157 and Lys211
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BTBD10 Gene

Domains & Families for BTBD10 Gene

Gene Families for BTBD10 Gene

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

Protein Domains for BTBD10 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BTBD10: view

No data available for UniProtKB/Swiss-Prot for BTBD10 Gene

Function for BTBD10 Gene

Molecular function for BTBD10 Gene

UniProtKB/Swiss-Prot Function:
Plays a major role as an activator of AKT family members by inhibiting PPP2CA-mediated dephosphorylation, thereby keeping AKTs activated. Plays a role in preventing motor neuronal death and accelerating the growth of pancreatic beta cells.
genes like me logo Genes that share phenotypes with BTBD10: view

Animal Model Products

CRISPR Products

miRNA for BTBD10 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BTBD10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTBD10 Gene

Localization for BTBD10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTBD10 Gene

Nucleus. Cytoplasm. Note=Colocalizes with KCTD20 in filamentous structures. {ECO:0000250 UniProtKB:Q80X66}.

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 BTBD10 gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BTBD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with BTBD10: view

Pathways & Interactions for BTBD10 Gene

SuperPathways for BTBD10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BTBD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042327 positive regulation of phosphorylation ISS,IEA --
GO:0044342 type B pancreatic cell proliferation ISS --
GO:1901215 negative regulation of neuron death ISS,IEA --
genes like me logo Genes that share ontologies with BTBD10: view

No data available for Pathways by source and SIGNOR curated interactions for BTBD10 Gene

Drugs & Compounds for BTBD10 Gene

(3) Drugs for BTBD10 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BTBD10: view

Transcripts for BTBD10 Gene

Unigene Clusters for BTBD10 Gene

BTB (POZ) domain containing 10:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BTBD10
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD10 Gene

No ASD Table

Relevant External Links for BTBD10 Gene

GeneLoc Exon Structure for
BTBD10
ECgene alternative splicing isoforms for
BTBD10

Expression for BTBD10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTBD10 Gene

Protein differential expression in normal tissues from HIPED for BTBD10 Gene

This gene is overexpressed in Heart (68.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BTBD10 Gene



Protein tissue co-expression partners for BTBD10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BTBD10 Gene:

BTBD10

SOURCE GeneReport for Unigene cluster for BTBD10 Gene:

Hs.332382

mRNA Expression by UniProt/SwissProt for BTBD10 Gene:

Q9BSF8-BTBDA_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in adult brain, testis, aorta and small intestine and weakly expressed in the heart, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary and colon. Down-regulated in glioma.

Evidence on tissue expression from TISSUES for BTBD10 Gene

  • Nervous system(4.9)
  • Muscle(4.2)
  • Stomach(4.2)
genes like me logo Genes that share expression patterns with BTBD10: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTBD10 Gene

Orthologs for BTBD10 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTBD10 33 34
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia BTBD10 33 34
  • 95.02 (n)
oppossum
(Monodelphis domestica)
Mammalia BTBD10 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD10 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BTBD10 33 34
  • 92.6 (n)
mouse
(Mus musculus)
Mammalia Btbd10 33 16 34
  • 92.07 (n)
rat
(Rattus norvegicus)
Mammalia Btbd10 33
  • 91.26 (n)
chicken
(Gallus gallus)
Aves BTBD10 33 34
  • 83.07 (n)
lizard
(Anolis carolinensis)
Reptilia BTBD10 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd10 33
  • 78.44 (n)
Str.11032 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4191 33
zebrafish
(Danio rerio)
Actinopterygii btbd10b 33 34
  • 74.98 (n)
wufa12a08 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6042 33
fruit fly
(Drosophila melanogaster)
Insecta mri 34
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea snpc-1.4 34
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5266 34
  • 47 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2024 33
Species where no ortholog for BTBD10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for BTBD10 Gene

ENSEMBL:
Gene Tree for BTBD10 (if available)
TreeFam:
Gene Tree for BTBD10 (if available)

Paralogs for BTBD10 Gene

Paralogs for BTBD10 Gene

(1) SIMAP similar genes for BTBD10 Gene using alignment to 10 proteins:

Pseudogenes.org Pseudogenes for BTBD10 Gene

genes like me logo Genes that share paralogs with BTBD10: view

Variants for BTBD10 Gene

Sequence variations from dbSNP and Humsavar for BTBD10 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000001638 -- 13,464,337(+) TTATT(C/G)TCGTA upstream-variant-2KB
rs1000010380 -- 13,418,796(+) GATTT(G/T)GCAAT intron-variant
rs1000022253 -- 13,458,512(+) CAGGA(A/C)ACTTG intron-variant
rs1000063888 -- 13,413,871(+) TAGCC(C/T)GTCAT intron-variant
rs1000090330 -- 13,407,229(+) ATACT(C/G)GTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BTBD10 Gene

Variant ID Type Subtype PubMed ID
nsv1053021 CNV gain 25217958

Variation tolerance for BTBD10 Gene

Residual Variation Intolerance Score: 29.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTBD10 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD10 Gene

Disorders for BTBD10 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BTBD10 Gene - From: DISEASES

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BTBD10

Genetic Association Database (GAD)
BTBD10
Human Genome Epidemiology (HuGE) Navigator
BTBD10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTBD10
genes like me logo Genes that share disorders with BTBD10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BTBD10 Gene

Publications for BTBD10 Gene

  1. Molecular cloning and characterization of a novel human BTB domain-containing gene, BTBD10, which is down-regulated in glioma. (PMID: 15556295) Chen J … Lu Y (Gene 2004) 2 3 4 22 60
  2. Glucose metabolism-related protein 1 (GMRP1) regulates pancreatic beta cell proliferation and apoptosis via activation of Akt signalling pathway in rats and mice. (PMID: 21267538) Wang X … Hu R (Diabetologia 2011) 3 4 60
  3. 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 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60

Products for BTBD10 Gene

Sources for BTBD10 Gene

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