BOC (BOC cell adhesion associated, oncogene regulated)

2010-10-01  

Identity

HGNC
BOC
LOCATION
3q13.2
LOCUSID
91653
ALIAS
Boi,CDON2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91653
MIM: 608708
HGNC: 17173
Ensembl: ENSG00000144857

Variants:

dbSNP: 91653
ClinVar: 91653
TCGA: ENSG00000144857
COSMIC: BOC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144857ENST00000273395Q9BWV1
ENSG00000144857ENST00000355385Q9BWV1
ENSG00000144857ENST00000462425C9J9M5
ENSG00000144857ENST00000464546C9J2L7
ENSG00000144857ENST00000473008H7C4U8
ENSG00000144857ENST00000484034Q96DN7
ENSG00000144857ENST00000485230Q96DN7
ENSG00000144857ENST00000488486H7C5J2
ENSG00000144857ENST00000494687C9J7V2
ENSG00000144857ENST00000495514Q9BWV1
ENSG00000144857ENST00000498710C9JZ38

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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

Pathways

PathwaySourceExternal ID
Hedgehog signaling pathwayKEGGko04340
Axon guidanceKEGGko04360
Hedgehog signaling pathwayKEGGhsa04340
Axon guidanceKEGGhsa04360
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'on' stateREACTOMER-HSA-5632684
Ligand-receptor interactionsREACTOMER-HSA-5632681
Activation of SMOREACTOMER-HSA-5635838
Developmental BiologyREACTOMER-HSA-1266738
MyogenesisREACTOMER-HSA-525793
CDO in myogenesisREACTOMER-HSA-375170

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
339585412021Female-Specific Susceptibility Locus in BOC and SEC16B are Associated with Adolescent Idiopathic Scoliosis.2
339585412021Female-Specific Susceptibility Locus in BOC and SEC16B are Associated with Adolescent Idiopathic Scoliosis.2
326518452020Elevated plasma endocan and BOC in heart failure patients decrease after heart transplantation in association with improved hemodynamics.2
326518452020Elevated plasma endocan and BOC in heart failure patients decrease after heart transplantation in association with improved hemodynamics.2
278719352017A Sonic hedgehog coreceptor, BOC regulates neuronal differentiation and neurite outgrowth via interaction with ABL and JNK activation.15
286772952017BOC is a modifier gene in holoprosencephaly.13
289152502017Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.10
278719352017A Sonic hedgehog coreceptor, BOC regulates neuronal differentiation and neurite outgrowth via interaction with ABL and JNK activation.15
286772952017BOC is a modifier gene in holoprosencephaly.13
289152502017Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype.10
200539082010Segregation of ipsilateral retinal ganglion cell axons at the optic chiasm requires the Shh receptor Boc.41
203062912010A three-stage genome-wide association study of general cognitive ability: hunting the small effects.40
205194952010All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner.38
200539082010Segregation of ipsilateral retinal ganglion cell axons at the optic chiasm requires the Shh receptor Boc.41
203062912010A three-stage genome-wide association study of general cognitive ability: hunting the small effects.40

Citation

Dessen P

BOC (BOC cell adhesion associated, oncogene regulated)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51684/case-report-explorer/humanGenome