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
379574692024Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India.0
379574692024Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal, India.0
346534052021Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes.5
346534052021Direct reprogramming of human Sertoli cells into male germline stem cells with the self-renewal and differentiation potentials via overexpressing DAZL/DAZ2/BOULE genes.5
283429262017Causes and Clinical Features of Infertile Men With Nonobstructive Azoospermia and Histopathologic Diagnosis of Hypospermatogenesis.6
283429262017Causes and Clinical Features of Infertile Men With Nonobstructive Azoospermia and Histopathologic Diagnosis of Hypospermatogenesis.6
273583912016Highly conserved epigenetic regulation of BOULE and DAZL is associated with human fertility.10
273583912016Highly conserved epigenetic regulation of BOULE and DAZL is associated with human fertility.10
256055532015Oncogenic Role of BOLL in Colorectal Cancer.5
256055532015Oncogenic Role of BOLL in Colorectal Cancer.5
240863062013A developmental stage-specific switch from DAZL to BOLL occurs during fetal oogenesis in humans, but not mice.16
240863062013A developmental stage-specific switch from DAZL to BOLL occurs during fetal oogenesis in humans, but not mice.16
214741252011CDY1 and BOULE transcripts assessed in the same biopsy as predictive markers for successful testicular sperm retrieval.10
214741252011CDY1 and BOULE transcripts assessed in the same biopsy as predictive markers for successful testicular sperm retrieval.10
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/img/meetings/hgnc