Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BTBD7 Gene

Aliases for BTBD7 Gene

  • BTB Domain Containing 7 2 3 5
  • BTB (POZ) Domain Containing 7 2 3
  • BTB/POZ Domain-Containing Protein 7 3
  • KIAA1525 4
  • FUP1 3

External Ids for BTBD7 Gene

Previous GeneCards Identifiers for BTBD7 Gene

  • GC14M091697
  • GC14M092776
  • GC14U900579
  • GC14M093703
  • GC14M073884

Summaries for BTBD7 Gene

GeneCards Summary for BTBD7 Gene

BTBD7 (BTB Domain Containing 7) is a Protein Coding gene.

UniProtKB/Swiss-Prot for BTBD7 Gene

  • Acts as a mediator of epithelial dynamics and organ branching by promoting cleft progression. Induced following accumulation of fibronectin in forming clefts, leading to local expression of the cell-scattering SNAIL2 and suppression of E-cadherin levels, thereby altering cell morphology and reducing cell-cell adhesion. This stimulates cell separation at the base of forming clefts by local, dynamic intercellular gap formation and promotes cleft progression (By similarity).

Additional gene information for BTBD7 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 BTBD7 Gene

Genomics for BTBD7 Gene

Regulatory Elements for BTBD7 Gene

Enhancers for BTBD7 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
GH14H093953 2 FANTOM5 Ensembl ENCODE dbSUPER 60.6 -626.9 -626909 13.2 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 BTBD7 SERPINA1 CCDC197 DDX24 UBR7 IFI27L2 IFI27 RPSAP4 FAM181A-AS1 ASB2
GH14H094025 1.1 ENCODE 28.2 -694.9 -694924 4.1 PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZBTB7B ZNF207 ZNF548 FOS SP3 BTBD7 DDX24 CCDC197 ASB2 IFI27L2 IFI27L1 IFI27 OTUB2 GC14M094051 GC14M094050
GH14H093298 1.3 Ensembl ENCODE dbSUPER 21.1 +30.1 30103 9.4 PKNOX1 ZNF146 KLF1 ZSCAN4 ZNF223 ZNF2 HIC1 ZNF121 GATA3 ZNF316 BTBD7 UNC79 COX8C UBR7 ENSG00000241499
GH14H092510 1.5 Ensembl ENCODE dbSUPER 15.9 +817.4 817388 10.1 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 FOS RUNX3 ZNF202 BTBD7 TRIP11 ATXN3 RIN3 LOC105370707 PIR35810
GH14H093149 1.2 Ensembl ENCODE 17 +182.2 182195 2.9 ELF3 FOXA2 PKNOX1 ARID4B BMI1 BRCA1 RAD21 RARA YY1 GTF3C2 BTBD7 GOLGA5 ENSG00000258595 MOAP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTBD7 on UCSC Golden Path with GeneCards custom track

Promoters for BTBD7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000072412 292 2401 ATF1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 BRCA1 ZNF2 YY1 SLC30A9

Genomic Locations for BTBD7 Gene

Genomic Locations for BTBD7 Gene
chr14:93,237,550-93,333,092
(GRCh38/hg38)
Size:
95,543 bases
Orientation:
Minus strand
chr14:93,703,896-93,799,438
(GRCh37/hg19)

Genomic View for BTBD7 Gene

Genes around BTBD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD7 Gene

Proteins for BTBD7 Gene

  • Protein details for BTBD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P203-BTBD7_HUMAN
    Recommended name:
    BTB/POZ domain-containing protein 7
    Protein Accession:
    Q9P203
    Secondary Accessions:
    • A8K5V7
    • Q69Z05
    • Q7Z308
    • Q86TS0
    • Q9HAA4
    • Q9NVM0

    Protein attributes for BTBD7 Gene

    Size:
    1132 amino acids
    Molecular mass:
    126368 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA96049.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB13946.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13946.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=CAH10736.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for BTBD7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD7 Gene

Post-translational modifications for BTBD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BTBD7 Gene

Domains & Families for BTBD7 Gene

Gene Families for BTBD7 Gene

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

Protein Domains for BTBD7 Gene

Suggested Antigen Peptide Sequences for BTBD7 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BTBD7: view

No data available for UniProtKB/Swiss-Prot for BTBD7 Gene

Function for BTBD7 Gene

Molecular function for BTBD7 Gene

UniProtKB/Swiss-Prot Function:
Acts as a mediator of epithelial dynamics and organ branching by promoting cleft progression. Induced following accumulation of fibronectin in forming clefts, leading to local expression of the cell-scattering SNAIL2 and suppression of E-cadherin levels, thereby altering cell morphology and reducing cell-cell adhesion. This stimulates cell separation at the base of forming clefts by local, dynamic intercellular gap formation and promotes cleft progression (By similarity).

Phenotypes From GWAS Catalog for BTBD7 Gene

genes like me logo Genes that share phenotypes with BTBD7: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTBD7 Gene

Localization for BTBD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTBD7 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 BTBD7 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BTBD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with BTBD7: view

Pathways & Interactions for BTBD7 Gene

SuperPathways for BTBD7 Gene

No Data Available

Interacting Proteins for BTBD7 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000335615%0d%0a9606.ENSP00000384863%0d%0a
Selected Interacting proteins: ENSP00000335615 Q9P203-BTBD7_HUMAN for BTBD7 Gene via STRING IID

Gene Ontology (GO) - Biological Process for BTBD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with BTBD7: view

No data available for Pathways by source and SIGNOR curated interactions for BTBD7 Gene

Drugs & Compounds for BTBD7 Gene

No Compound Related Data Available

Transcripts for BTBD7 Gene

mRNA/cDNA for BTBD7 Gene

(5) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BTBD7 Gene

BTB (POZ) domain containing 7:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD7 Gene

No ASD Table

Relevant External Links for BTBD7 Gene

GeneLoc Exon Structure for
BTBD7
ECgene alternative splicing isoforms for
BTBD7

Expression for BTBD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTBD7 Gene

Protein differential expression in normal tissues from HIPED for BTBD7 Gene

This gene is overexpressed in Prostate (19.5), Rectum (16.6), Gallbladder (11.7), Urinary Bladder (8.7), and Fetal gut (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BTBD7 Gene



Protein tissue co-expression partners for BTBD7 Gene

NURSA nuclear receptor signaling pathways regulating expression of BTBD7 Gene:

BTBD7

SOURCE GeneReport for Unigene cluster for BTBD7 Gene:

Hs.525549

Evidence on tissue expression from TISSUES for BTBD7 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with BTBD7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTBD7 Gene

Orthologs for BTBD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTBD7 33 34
  • 99.73 (n)
oppossum
(Monodelphis domestica)
Mammalia BTBD7 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BTBD7 33 34
  • 93.22 (n)
cow
(Bos Taurus)
Mammalia BTBD7 33 34
  • 93.01 (n)
rat
(Rattus norvegicus)
Mammalia Btbd7 33
  • 91.67 (n)
mouse
(Mus musculus)
Mammalia Btbd7 33 16 34
  • 90.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BTBD7 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves BTBD7 33 34
  • 82.1 (n)
lizard
(Anolis carolinensis)
Reptilia BTBD7 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd7 33
  • 77.25 (n)
zebrafish
(Danio rerio)
Actinopterygii btbd7 33 34
  • 67.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16952 34
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C39F7.5 34
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToOne
Species where no ortholog for BTBD7 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for BTBD7 Gene

ENSEMBL:
Gene Tree for BTBD7 (if available)
TreeFam:
Gene Tree for BTBD7 (if available)

Paralogs for BTBD7 Gene

Pseudogenes.org Pseudogenes for BTBD7 Gene

genes like me logo Genes that share paralogs with BTBD7: view

No data available for Paralogs for BTBD7 Gene

Variants for BTBD7 Gene

Sequence variations from dbSNP and Humsavar for BTBD7 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000004197 -- 93,312,778(+) AGCCC(A/G)CTGCC intron-variant
rs1000010005 -- 93,292,581(+) AAAGA(A/C)ATCTC intron-variant
rs1000018635 -- 93,248,700(+) TACAC(A/C)AAAGA intron-variant
rs1000075090 -- 93,314,337(+) ATCTT(A/G)TTTAT intron-variant
rs1000081590 -- 93,309,428(+) AAGAG(A/T)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BTBD7 Gene

Variant ID Type Subtype PubMed ID
nsv820783 CNV duplication 20802225
nsv820297 CNV loss 19587683
nsv565575 CNV loss 21841781
nsv518613 CNV loss 19592680
esv3635357 CNV gain 21293372
esv3451062 CNV duplication 20981092
esv26222 CNV loss 19812545
dgv383n67 CNV gain 20364138

Variation tolerance for BTBD7 Gene

Residual Variation Intolerance Score: 7.44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.43; 63.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTBD7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD7 Gene

Disorders for BTBD7 Gene

Relevant External Links for BTBD7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTBD7

No disorders were found for BTBD7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTBD7 Gene

Publications for BTBD7 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10819331) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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
  4. FUP1, a gene associated with hepatocellular carcinoma, stimulates NIH3T3 cell proliferation and tumor formation in nude mice. (PMID: 11527404) Pan W … Li TP (Biochemical and biophysical research communications 2001) 2 3 60
  5. Expression of BTBD7 in primary salivary adenoid cystic carcinoma and correlation with Slug and prognosis. (PMID: 27540976) Yang L … Wang X (Cancer biomarkers : section A of Disease markers 2016) 3 60

Products for BTBD7 Gene

Sources for BTBD7 Gene

Content
Loading form....