BTBD10 Gene (Protein Coding)

BTB Domain Containing 10

GC11M013387
GIFtS:
37
See more...

Aliases for BTBD10 Gene

Aliases for BTBD10 Gene

  • BTB Domain Containing 10 2 3 5
  • GMRP1 2 3 4
  • BTB/POZ Domain-Containing Protein 10 3 4
  • Glucose Metabolism-Related Protein 1 3 4
  • BTB (POZ) Domain Containing 10 2 3
  • GMRP-1 2 3
  • BTB (Broad-Complex Tramtrack And Bric-A-Brac/Pox Virus And Zinc Finger) Domain-Containing Protein 10 3
  • Epididymis Secretory Sperm Binding Protein 3
  • K+ Channel Tetramerization Protein 3
  • MGC13007 2
  • BTBD10 5

External Ids for BTBD10 Gene

Previous GeneCards Identifiers for BTBD10 Gene

  • GC11M013367
  • GC11M013089
  • GC11M013409

Summaries for BTBD10 Gene

GeneCards Summary for BTBD10 Gene

BTBD10 (BTB Domain Containing 10) is a Protein Coding gene. Diseases associated with BTBD10 include Progressive Myoclonus Epilepsy 1A and Progressive Myoclonus Epilepsy 3. An important paralog of this gene is KCTD20.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for BTBD10 Gene

Genomics for BTBD10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BTBD10 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
GH11J013461 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 605.3 +0.3 308 3.2 BRCA1 ARHGAP35 SP1 GATAD2A PRDM10 REST TFE3 LEF1 SOX13 IKZF1 BTBD10 ENSG00000287548 lnc-PTH-3 RRAS2 piR-43105-076 ARNTL
GH11J013448 Enhancer 0.8 Ensembl ENCODE 11.8 +16.4 16396 7 JUND FOXJ2 CEBPB ATF3 EP400 TRIM24 CEBPG CBX5 MAFK ATF4 BTBD10 PTH piR-43105-076 lnc-PTH-3 ARNTL
GH11J013434 Enhancer 0.4 ENCODE 21.5 +28.7 28702 0.9 PRDM1 ATF2 ZNF623 JUND piR-43105-076 BTBD10 RF00004-021 ARNTL
GH11J013487 Enhancer 0.7 ENCODE 10.6 -24.0 -24022 0.2 GATAD2A CTCF KMT2B ZBTB26 KAT7 YY1 KLF9 ZNF792 RAD21 MIER3 ENSG00000255401 lnc-ARNTL-3 piR-42613-013 piR-50129-026 BTBD10 PTH
GH11J013108 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.9 +352.7 352746 3.4 JUND IKZF2 HDAC1 PKNOX1 CEBPB SP1 RFX1 DPF2 CTBP1 HDAC2 LINC00958 BTBD10 LOC105376558 ENSG00000255558 RF00994-166 RASSF10 ARNTL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BTBD10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BTBD10

Top Transcription factor binding sites by QIAGEN in the BTBD10 gene promoter:
  • aMEF-2
  • GATA-1
  • GATA-2
  • MAZR
  • MEF-2A
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for BTBD10 Gene

Genomic Locations for BTBD10 Gene
chr11:13,387,996-13,463,297
(GRCh38/hg38)
Size:
75,302 bases
Orientation:
Minus strand
chr11:13,409,548-13,484,844
(GRCh37/hg19)
Size:
75,297 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 Structure • Gene Density

RefSeq DNA sequence for BTBD10 Gene

Proteins for BTBD10 Gene

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  • 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

Protein Expression for BTBD10 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BTBD10 Gene

  • Ubiquitination at Lys157 and Lys211
  • Modification sites at PhosphoSitePlus

Other Protein References for BTBD10 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for BTBD10
  • Biorbyt antibodies for BTBD10
  • Santa Cruz Biotechnology (SCBT) Antibodies for BTBD10

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:
  • BTB/POZ domain
ProtoNet:

Suggested Antigen Peptide Sequences for BTBD10 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79062, highly similar to BTB/POZ domain-containing protein 10 (B7Z228_HUMAN)
  • cDNA FLJ58599, highly similar to BTB/POZ domain-containing protein 10 (B7Z503_HUMAN)
  • BTB/POZ domain-containing protein 10 (BTBDA_HUMAN)
  • GMRP1 (D3DQW7_HUMAN)
  • BTBD10 protein (Q6P5W1_HUMAN)
genes like me logo Genes that share domains with BTBD10: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BTBD10 Gene

Function for BTBD10 Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

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.

Phenotypes From GWAS Catalog for BTBD10 Gene

Gene Ontology (GO) - Molecular Function for BTBD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 21145461
genes like me logo Genes that share ontologies with BTBD10: view
genes like me logo Genes that share phenotypes with BTBD10: view

Animal Model Products

CRISPR Products

miRNA for BTBD10 Gene

miRTarBase miRNAs that target BTBD10

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BTBD10

No data available for Enzyme Numbers (IUBMB) , 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 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (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 IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with BTBD10: view

Pathways & Interactions for BTBD10 Gene

PathCards logo

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 IEA,ISS --
GO:0044342 type B pancreatic cell proliferation ISS --
GO:1901215 negative regulation of neuron death IEA,ISS --
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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BTBD10 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
11 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 BTBD10

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

No ASD Table

Relevant External Links for BTBD10 Gene

GeneLoc Exon Structure for
BTBD10

Expression for BTBD10 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for BTBD10 Gene
mRNA expression by BioGPS for BTBD10 GenemRNA expression by GTEx 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, MaxQB, and MOPED for BTBD10 Gene



Protein tissue co-expression partners for BTBD10 Gene

- Elite partner

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

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 30 31
  • 99.86 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BTBD10 30 31
  • 95.02 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia BTBD10 31
  • 95 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia BTBD10 31
  • 95 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BTBD10 30 31
  • 92.6 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Btbd10 30 17 31
  • 92.07 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Btbd10 30
  • 91.26 (n)
Chicken
(Gallus gallus)
 Aves BTBD10 30 31
  • 83.07 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia BTBD10 31
  • 88 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia btbd10 30
  • 78.44 (n)
Str.11032 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.4191 30
Zebrafish
(Danio rerio)
 Actinopterygii btbd10b 30 31
  • 74.98 (n)
 OneToOne
wufa12a08 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.6042 30
Fruit Fly
(Drosophila melanogaster)
 Insecta mri 31
  • 47 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea snpc-1.4 31
  • 35 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5266 31
  • 47 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.2024 30
Species where no ortholog for BTBD10 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BTBD10: view image

Paralogs for BTBD10 Gene

Paralogs for BTBD10 Gene

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

  • BTBDA_HUMAN
  • B7Z228_HUMAN
  • B7Z503_HUMAN
  • D3DQW7_HUMAN
  • E9PKM7_HUMAN
  • E9PKU9_HUMAN
  • E9PN21_HUMAN
  • E9PPD8_HUMAN
  • Q6P5W1_HUMAN
  • Q7L2U6_HUMAN

Pseudogenes.org Pseudogenes for BTBD10 Gene

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

Variants for BTBD10 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BTBD10 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs34185489 - p.Thr145Ala

Additional dbSNP identifiers (rs#s) for BTBD10 Gene

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)

Additional Variant Information 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

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

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BTBD10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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
  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 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

ExternalLinks

View latest publications for BTBD10 gene in Mastermind

Products for BTBD10 Gene

  • Biorbyt antibodies for BTBD10

Sources for BTBD10 Gene