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Aliases for BOLL Gene

Aliases for BOLL Gene

  • Boule Homolog, RNA Binding Protein 2 3 5
  • Boule-Like RNA Binding Protein 2 3
  • BOULE 3 4
  • Bol (Drosophila Boule Homolog)-Like 2
  • Bol, Boule-Like (Drosophila) 2
  • Protein Boule-Like 3
  • Bol, Boule-Like 3

External Ids for BOLL Gene

Previous GeneCards Identifiers for BOLL Gene

  • GC02M196791
  • GC02M197304
  • GC02M198555
  • GC02M198794
  • GC02M198417
  • GC02M198299
  • GC02M198591
  • GC02M190443

Summaries for BOLL Gene

Entrez Gene Summary for BOLL Gene

  • This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for BOLL Gene

BOLL (Boule Homolog, RNA Binding Protein) is a Protein Coding gene. Diseases associated with BOLL include Azoospermia and Male Infertility. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is DAZL.

UniProtKB/Swiss-Prot for BOLL Gene

  • Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3-UTR of mRNAs and regulating their translation (By similarity).

Gene Wiki entry for BOLL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BOLL Gene

Genomics for BOLL Gene

Regulatory Elements for BOLL Gene

Enhancers for BOLL 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
GH02G197451 1.4 ENCODE dbSUPER 10 +333.4 333384 4.2 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 HSPE1 HSPD1 ENSG00000202434 BOLL ANKRD44 PLCL1 COQ10B RNU6-1029P
GH02G197847 1.1 FANTOM5 ENCODE dbSUPER 10.3 -61.6 -61615 2.1 BHLHE40 TBX21 EP300 PLCL1 BOLL SF3B1 RFTN2 MOB4 GC02P197830 GC02M197883
GH02G197575 0.8 Ensembl ENCODE 10.2 +209.0 208991 3.6 JUND CEBPB HNF4A MAFK BOLL PLCL1 GC02M197569 GC02P197600
GH02G198135 0.7 ENCODE dbSUPER 10.4 -348.8 -348750 0.2 JUND SMARCA4 SIN3A BOLL GC02M198022 ENSG00000237035
GH02G198134 0.5 ENCODE dbSUPER 10.4 -347.7 -347747 0.8 BOLL RFTN2 ANKRD44 GC02M198022 ENSG00000237035
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BOLL on UCSC Golden Path with GeneCards custom track

Promoters for BOLL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000128463 262 201 PKNOX1 ZNF143 EZH2

Genomic Location for BOLL Gene

Chromosome:
2
Start:
197,726,879 bp from pter
End:
197,786,762 bp from pter
Size:
59,884 bases
Orientation:
Minus strand

Genomic View for BOLL Gene

Genes around BOLL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BOLL Gene

Proteins for BOLL Gene

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

    Protein Symbol:
    Q8N9W6-BOLL_HUMAN
    Recommended name:
    Protein boule-like
    Protein Accession:
    Q8N9W6
    Secondary Accessions:
    • B4DZA4
    • Q0JW32
    • Q53T62
    • Q969U3

    Protein attributes for BOLL Gene

    Size:
    283 amino acids
    Molecular mass:
    31301 Da
    Quaternary structure:
    • Interacts with DAZ1 and DAZL.

    Alternative splice isoforms for BOLL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BOLL Gene

Post-translational modifications for BOLL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BOLL Gene

Domains & Families for BOLL Gene

Gene Families for BOLL Gene

Protein Domains for BOLL Gene

Suggested Antigen Peptide Sequences for BOLL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N9W6

UniProtKB/Swiss-Prot:

BOLL_HUMAN :
  • Belongs to the RRM DAZ family.
Family:
  • Belongs to the RRM DAZ family.
genes like me logo Genes that share domains with BOLL: view

Function for BOLL Gene

Molecular function for BOLL Gene

UniProtKB/Swiss-Prot Function:
Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3-UTR of mRNAs and regulating their translation (By similarity).

Gene Ontology (GO) - Molecular Function for BOLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 16001084
GO:0008494 translation activator activity IDA 16001084
genes like me logo Genes that share ontologies with BOLL: view
genes like me logo Genes that share phenotypes with BOLL: view

Animal Models for BOLL Gene

MGI Knock Outs for BOLL:

Animal Model Products

miRNA for BOLL Gene

miRTarBase miRNAs that target BOLL

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BOLL Gene

Localization for BOLL Gene

Subcellular locations from UniProtKB/Swiss-Prot for BOLL Gene

Cytoplasm.

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 BOLL gene
Compartment Confidence
nucleus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for BOLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11390979
genes like me logo Genes that share ontologies with BOLL: view

Pathways & Interactions for BOLL Gene

No Data Available

Gene Ontology (GO) - Biological Process for BOLL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0007126 meiotic nuclear division IDA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with BOLL: view

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

Transcripts for BOLL Gene

Unigene Clusters for BOLL Gene

Bol, boule-like (Drosophila):
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: - - -
SP3: - -

Relevant External Links for BOLL Gene

GeneLoc Exon Structure for
BOLL
ECgene alternative splicing isoforms for
BOLL

Expression for BOLL Gene

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

mRNA differential expression in normal tissues according to GTEx for BOLL Gene

This gene is overexpressed in Testis (x47.6) and Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for BOLL Gene

This gene is overexpressed in Testis (69.0).

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



Protein tissue co-expression partners for BOLL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BOLL Gene:

BOLL

SOURCE GeneReport for Unigene cluster for BOLL Gene:

Hs.169797

mRNA Expression by UniProt/SwissProt for BOLL Gene:

Q8N9W6-BOLL_HUMAN
Tissue specificity: Testis specific. Not expressed in early embryos, primordial germ cells and spermatogonial cells. First expressed in the cytoplasm of spermatocytes and then persists through meiosis.

Evidence on tissue expression from TISSUES for BOLL Gene

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

Primer Products

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

Orthologs for BOLL Gene

This gene was present in the common ancestor of animals.

Orthologs for BOLL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BOLL 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia BOLL 34 35
  • 94.91 (n)
cow
(Bos Taurus)
Mammalia BOLL 34 35
  • 93.9 (n)
oppossum
(Monodelphis domestica)
Mammalia BOLL 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Boll 34 16 35
  • 91.09 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911373 34
  • 90.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BOLL 35
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves BOLL 34
  • 78.25 (n)
lizard
(Anolis carolinensis)
Reptilia BOLL 35
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bol 36 35
  • 55 (a)
worm
(Caenorhabditis elegans)
Secernentea daz-1 35
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
Species where no ortholog for BOLL 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for BOLL Gene

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

Paralogs for BOLL Gene

Paralogs for BOLL Gene

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

Variants for BOLL Gene

Sequence variations from dbSNP and Humsavar for BOLL Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000015602 -- 197,762,966(+) AAATC(A/G)ACAAA intron-variant
rs1000030694 -- 197,741,056(+) AATCT(A/G)TAAAT intron-variant
rs1000122600 -- 197,777,436(+) AATAA(A/T)CTCCT intron-variant
rs1000161746 -- 197,749,012(+) TGTCC(C/T)TCTGG intron-variant
rs1000167671 -- 197,785,405(+) GCCTC(A/G)GGCCT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv3593910 CNV loss 21293372
esv3593911 CNV gain 21293372
nsv1009134 CNV gain 25217958
nsv1139743 CNV duplication 24896259
nsv460016 CNV gain 19166990
nsv516368 CNV loss 19592680
nsv584157 CNV gain 21841781
nsv834506 CNV gain 17160897

Variation tolerance for BOLL Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BOLL Gene

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

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

Disorders for BOLL Gene

MalaCards: The human disease database

(3) MalaCards diseases for BOLL Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
azoospermia
  • spermatogenic failure
male infertility
  • infertility male
male reproductive system disease
  • genital diseases, male
- elite association - COSMIC cancer census association via MalaCards
Search BOLL in MalaCards View complete list of genes associated with diseases

Relevant External Links for BOLL

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

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

Publications for BOLL Gene

  1. Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men. (PMID: 17114206) Kostova E. … Gromoll J. (Mol. Hum. Reprod. 2007) 3 4 22 64
  2. A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. (PMID: 11390979) Xu E.Y. … Reijo Pera R.A. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4 64
  3. Phenotypic expression of partial AZFc deletions is independent of the variations in DAZL and BOULE in a Han population. (PMID: 19342699) Chen P. … Yang Y. (J. Androl. 2010) 3 46 64
  4. Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis. (PMID: 19417033) Lin Y.M. … Cheng Y.S. (J. Clin. Endocrinol. Metab. 2009) 3 22 64
  5. Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation. (PMID: 19865085) Kee K. … Reijo Pera R.A. (Nature 2009) 3 22 64

Products for BOLL Gene

Sources for BOLL Gene

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