B9D1 (B9 domain containing 1)

2014-11-01  

Identity

HGNC
B9D1
LOCATION
17p11.2
LOCUSID
27077
ALIAS
B9,EPPB9,JBTS27,MKS9,MKSR-1,MKSR1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27077
MIM: 614144
HGNC: 24123
Ensembl: ENSG00000108641

Variants:

dbSNP: 27077
ClinVar: 27077
TCGA: ENSG00000108641
COSMIC: B9D1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108641ENST00000261499Q9UPM9
ENSG00000108641ENST00000268841Q9UPM9
ENSG00000108641ENST00000395616A8MYG7
ENSG00000108641ENST00000440841H7C3B7
ENSG00000108641ENST00000461069A0A0B4J223
ENSG00000108641ENST00000477478I3L435
ENSG00000108641ENST00000477683A0A2R8Y5M4
ENSG00000108641ENST00000574508J3KSN2
ENSG00000108641ENST00000575478I3L126
ENSG00000108641ENST00000582857J3QKN6
ENSG00000108641ENST00000642870A0A2R8Y822
ENSG00000108641ENST00000646248A0A2R8YD57
ENSG00000108641ENST00000647056A0A2R8YFJ1
ENSG00000108641ENST00000647252A0A2R8Y646
ENSG00000108641ENST00000663089A0A590UJK9
ENSG00000108641ENST00000671102A0A590UK40

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

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
183374712008Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.56
192087692009Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.35
214936272011B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.35
248865602014Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.21

Citation

Dessen P

B9D1 (B9 domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60691/b9d1