Property Summary

NCBI Gene PubMed Count 9
PubMed Score 3.56
PubTator Score 3.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count
Meckel-Gruber syndrome 15
Disease Target Count P-value
posterior fossa group B ependymoma 1530 4.36218381668113E-7
lung cancer 4473 1.16556184392849E-4
nasopharyngeal carcinoma 1056 2.7795762357723E-4
active Crohn's disease 918 0.00484490602075029
astrocytic glioma 2241 0.0104052853745656
active ulcerative colitis 477 0.0233974258369488
medulloblastoma, large-cell 6234 0.0456533656542811
Disease Target Count
Meckel syndrome 9 1

Expression

  Differential Expression (7)

Disease log2 FC p
astrocytic glioma -1.300 0.010
posterior fossa group B ependymoma 1.900 0.000
medulloblastoma, large-cell -1.100 0.046
lung cancer 2.000 0.000
active Crohn's disease 1.059 0.005
active ulcerative colitis 1.073 0.023
nasopharyngeal carcinoma -1.100 0.000

Synonym

Accession Q9UPM9 Q9BU22
Symbols B9
MKS9
EPPB9
MKSR1
JBTS27

Gene

PANTHER Protein Class (1)

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Chicken OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA EggNOG Inparanoid

 GO Function (1)

Gene RIF (4)

PMID Text
24886560 describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome
21493627 B9D1 is a novel Meckel syndrome gene
19208769 MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1/EPPB9, MKSR-2/B9D2), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins
18337471 Ciliary transition zone localization. Functions in a module with related proteins (MKS1 and B9D1) that cooperates with nephrocystins in ciliogenesis.

AA Sequence

MATASPSVFLLMVNGQVESAQFPEYDDLYCKYCFVYGQDWAPTAGLEEGISQITSKSQDVRQALVWNFPI      1 - 70
DVTFKSTNPYGWPQIVLSVYGPDVFGNDVVRGYGAVHVPFSPGRHKRTIPMFVPESTSKLQKFTSWFMGR     71 - 140
RPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTKDMRKLGYDTGPSDTQGVLGPSPPQSFPQ          141 - 204
//

Text Mined References (10)

PMID Year Title
26477546 2015 Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
21493627 2011 B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
19208769 2009 Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
18337471 2008 Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231747 2004 A protein interaction framework for human mRNA degradation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.