BOLL (boule homolog, RNA binding protein)

2015-09-01  

Identity

HGNC
BOLL
LOCATION
2q33.1
LOCUSID
66037
ALIAS
BOULE

Other Information

Locus ID:

NCBI: 66037
MIM: 606165
HGNC: 14273
Ensembl: ENSG00000152430

Variants:

dbSNP: 66037
ClinVar: 66037
TCGA: ENSG00000152430
COSMIC: BOLL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152430ENST00000282278Q8N9W6
ENSG00000152430ENST00000321801Q8N9W6
ENSG00000152430ENST00000392296Q8N9W6
ENSG00000152430ENST00000430004F2Z2G3
ENSG00000152430ENST00000433157Q8N9W6
ENSG00000152430ENST00000434976F8WD91

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
198650852009Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.145
124993972003Human BOULE gene rescues meiotic defects in infertile flies.33
150709652004Association of meiotic arrest with lack of BOULE protein expression in infertile men.16
240863062013A developmental stage-specific switch from DAZL to BOLL occurs during fetal oogenesis in humans, but not mice.14
171142062007Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men.8
214741252011CDY1 and BOULE transcripts assessed in the same biopsy as predictive markers for successful testicular sperm retrieval.8
194170332009Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis.7
150664602004Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure.6
193426992010Phenotypic expression of partial AZFc deletions is independent of the variations in DAZL and BOULE in a Han population.5
193426992010Phenotypic expression of partial AZFc deletions is independent of the variations in DAZL and BOULE in a Han population.5

Citation

Dessen P

BOLL (boule homolog, RNA binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2015-09-01

Online version: http://atlasgeneticsoncology.org/gene/55397/boll-(boule-homolog-rna-binding-protein)