BFSP2 (beaded filament structural protein 2)

2014-08-01  

Identity

HGNC
BFSP2
LOCATION
3q22.1
LOCUSID
8419
ALIAS
CP47,CP49,CTRCT12,LIFL-L,PHAKOSIN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8419
MIM: 603212
HGNC: 1041
Ensembl: ENSG00000170819

Variants:

dbSNP: 8419
ClinVar: 8419
TCGA: ENSG00000170819
COSMIC: BFSP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170819ENST00000302334Q13515

Expression (GTEx)

0
1
2
3
4
5
6
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
eye
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
155702182004Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.19
218365222011Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.18
172006622006Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family.15
179824272007The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family.11
189583062008A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.10
246549482014A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.4
289353732017Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin.0

Citation

Dessen P

BFSP2 (beaded filament structural protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54155/bfsp2