BEND7 Gene (Protein Coding)

BEN Domain Containing 7

GC10M013392
GIFtS:
33

Aliases for BEND7 Gene

Aliases for BEND7 Gene

  • BEN Domain Containing 7 2 3 5
  • BEN Domain-Containing Protein 7 3 4
  • C10orf30 3 4
  • Chromosome 10 Open Reading Frame 30 2

External Ids for BEND7 Gene

Previous HGNC Symbols for BEND7 Gene

  • C10orf30

Previous GeneCards Identifiers for BEND7 Gene

  • GC10M013521

Summaries for BEND7 Gene

GeneCards Summary for BEND7 Gene

BEND7 (BEN Domain Containing 7) is a Protein Coding gene. Diseases associated with BEND7 include Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome.

Additional gene information for BEND7 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BEND7 Gene

Genomics for BEND7 Gene

GeneHancer (GH) Regulatory Elements for BEND7 Gene

Promoters and enhancers for BEND7 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
GH10J013526 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 508.6 +0.7 673 3.4 POLR2G USF1 PHF8 JUND FOS ZFX ZIC2 ZBTB26 ZBTB7A EZH2 BEND7 ENSG00000227175 LOC105376421 lnc-BEND7-5 piR-43355
GH10J013481 Promoter 0.3 EPDnew 500.3 +47.9 47900 0.1 lnc-BEND7-1 BEND7 piR-57460-038
GH10J013439 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 12.1 +88.4 88418 0.3 CTCF ZNF10 ZIC2 GABPA ZBTB26 REST MYC RAD21 CTBP1 SMC3 BEND7 ENSG00000227175 SEPHS1 lnc-PRPF18-13 RF00017-594 lnc-BEND7-1
GH10J013557 Enhancer 0.9 Ensembl ENCODE 12.2 -27.9 -27906 1.4 ZSCAN5C JUND ZNF639 RFX1 CUX1 ATF2 OSR2 MYNN WT1 SP2 ENSG00000239665 BEND7 ENSG00000227175 PRPF18 LOC105376422 piR-53177-005
GH10J013550 Enhancer 0.4 FANTOM5 22.8 -22.0 -21999 0.1 TRIM28 SETDB1 BEND7 LOC105376422 piR-53177-005
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BEND7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BEND7

Top Transcription factor binding sites by QIAGEN in the BEND7 gene promoter:
  • Chx10
  • CUTL1
  • E4BP4
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F2 (Oct-2.1)
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for BEND7 Gene

Genomic Locations for BEND7 Gene
chr10:13,438,484-13,528,974
(GRCh38/hg38)
Size:
90,491 bases
Orientation:
Minus strand
chr10:13,480,484-13,570,974
(GRCh37/hg19)
Size:
90,491 bases
Orientation:
Minus strand

Genomic View for BEND7 Gene

Genes around BEND7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BEND7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BEND7 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BEND7 Gene

Proteins for BEND7 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for BEND7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7W2-BEND7_HUMAN
    Recommended name:
    BEN domain-containing protein 7
    Protein Accession:
    Q8N7W2
    Secondary Accessions:
    • Q5SYY7
    • Q5SYY8
    • Q5SYY9
    • Q8N5T7

    Protein attributes for BEND7 Gene

    Size:
    519 amino acids
    Molecular mass:
    57549 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for BEND7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BEND7 Gene

Protein Expression for BEND7 Gene

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

Post-translational modifications for BEND7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BEND7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BEND7 Gene

Domains & Families for BEND7 Gene

Gene Families for BEND7 Gene

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

Protein Domains for BEND7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BEND7 Gene

GenScript: Design optimal peptide antigens:
  • BEN domain-containing protein 7 (BEND7_HUMAN)
genes like me logo Genes that share domains with BEND7: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BEND7 Gene

Function for BEND7 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for BEND7 Gene

Gene Ontology (GO) - Molecular Function for BEND7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with BEND7: view
genes like me logo Genes that share phenotypes with BEND7: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BEND7 Gene

Localization for BEND7 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 BEND7 gene
Compartment Confidence
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BEND7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with BEND7: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BEND7 Gene

Pathways & Interactions for BEND7 Gene

PathCards logo

SuperPathways for BEND7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BEND7 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BEND7 Gene

Drugs & Compounds for BEND7 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for BEND7 Gene

Products:

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

mRNA/cDNA for BEND7 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BEND7 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -
SP2: -

Relevant External Links for BEND7 Gene

GeneLoc Exon Structure for
BEND7

Expression for BEND7 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BEND7 Gene

mRNA expression in normal human tissues for BEND7 Gene
mRNA expression by BioGPS for BEND7 GenemRNA expression by GTEx for BEND7 Gene

Protein differential expression in normal tissues from HIPED for BEND7 Gene

This gene is overexpressed in Cervix (50.3) and Heart (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BEND7 Gene



Protein tissue co-expression partners for BEND7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BEND7

SOURCE GeneReport for Unigene cluster for BEND7 Gene:

Hs.498740

Evidence on tissue expression from TISSUES for BEND7 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with BEND7: 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 BEND7 Gene

Orthologs for BEND7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BEND7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia BEND7 31 30
  • 99.36 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia BEND7 31 30
  • 88.27 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia BEND7 31 30
  • 87.56 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Bend7 30
  • 85.69 (n)
mouse
(Mus musculus)
 Mammalia Bend7 17 31 30
  • 85.65 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia BEND7 31
  • 76 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia BEND7 31
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BEND7 31 30
  • 77.25 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia BEND7 31
  • 63 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia bend7 30
  • 66.38 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC560711 30
  • 58.58 (n)
BEND7 31
  • 45 (a)
 OneToOne
Species where no ortholog for BEND7 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for BEND7 Gene

ENSEMBL:
Gene Tree for BEND7 (if available)
TreeFam:
Gene Tree for BEND7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BEND7: view image

Paralogs for BEND7 Gene

Pseudogenes.org Pseudogenes for BEND7 Gene

genes like me logo Genes that share paralogs with BEND7: view

No data available for Paralogs for BEND7 Gene

Variants for BEND7 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BEND7 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
VAR_035501 A breast cancer sample p.Arg313Thr
rs12247033 - p.Asn341Ser

Additional dbSNP identifiers (rs#s) for BEND7 Gene

Structural Variations from Database of Genomic Variants (DGV) for BEND7 Gene

Variant ID Type Subtype PubMed ID
esv1007603 CNV deletion 20482838
esv2733395 CNV deletion 23290073
esv3545929 CNV deletion 23714750
esv7966 CNV loss 19470904
nsv508568 CNV deletion 20534489
nsv825252 CNV gain 20364138
nsv831788 CNV loss 17160897

Variation tolerance for BEND7 Gene

Residual Variation Intolerance Score: 74.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.20; 61.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BEND7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BEND7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BEND7 Gene

Disorders for BEND7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BEND7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
immunodeficiency-centromeric instability-facial anomalies syndrome
  • immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16
- elite association - COSMIC cancer census association via MalaCards
Search BEND7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BEND7

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 BEND7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BEND7 Gene

Publications for BEND7 Gene

  1. 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 54
  4. 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
  5. Identification of a novel locus associated with skin colour in African-admixed populations. (PMID: 28300201) Hernandez-Pacheco N … Pino-Yanes M (Scientific reports 2017) 3 54

ExternalLinks

View latest publications for BEND7 gene in Mastermind

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