Property Summary

NCBI Gene PubMed Count 11
PubMed Score 2.25
PubTator Score 1.74

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count
Age related macular degeneration 84
Disease Target Count P-value
lung carcinoma 2844 1.17586010175084E-20
posterior fossa group A ependymoma 1511 2.82928023411464E-12
ulcerative colitis 2087 1.02007823509867E-9
malignant mesothelioma 3163 7.14708061553292E-8
pilocytic astrocytoma 3086 4.63852550246253E-7
ovarian cancer 8492 4.89839170632633E-6
pediatric high grade glioma 2712 1.5413573935354E-5
group 4 medulloblastoma 1875 1.58177332151489E-4
glioblastoma 5572 2.46139718713158E-4
acute myeloid leukemia 785 3.37672860163022E-4
primary pancreatic ductal adenocarcinoma 1271 4.01824428735441E-4
psoriasis 6685 4.54388422949334E-4
atypical teratoid/rhabdoid tumor 1095 5.86577522679943E-4
interstitial cystitis 2299 5.93140895265622E-4
active Crohn's disease 918 0.00188836458845544
primary Sjogren syndrome 789 0.00289236211817999
subependymal giant cell astrocytoma 2287 0.0196724559779975
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0275486752059665
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0446540577848798
Disease Target Count Z-score Confidence
Macular degeneration 44 0.0 2.0

Expression

Synonym

Accession Q9NWR8 A8K4Y3 Q6IAC1 MCUb
Symbols CCDC109B

Gene

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Dog OMA EggNOG
Horse OMA EggNOG
Cow OMA EggNOG
Pig OMA EggNOG
Opossum OMA EggNOG
Platypus OMA EggNOG
Chicken OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA EggNOG

Gene RIF (3)

PMID Text
24231807 MCUb (also known as CCDC109b) is a paralogue of MCU (CCDC109a). MCUb physically resides within the mitochondrial uniporter complex (uniplex), which consists of the MCU, MCUb, EMRE, MICU1, and MICU2.
20332099 Observational study of gene-disease association. (HuGE Navigator)
19773279 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MLQRGLWPWRTRLLPTPGTWRPARPWPLPPPPQVLRVKLCGNVKYYQSHHYSTVVPPDEITVIYRHGLPL      1 - 70
VTLTLPSRKERCQFVVKPMLSTVGSFLQDLQNEDKGIKTAAIFTADGNMISASTLMDILLMNDFKLVINK     71 - 140
IAYDVQCPKREKPSNEHTAEMEHMKSLVHRLFTILHLEESQKKREHHLLEKIDHLKEQLQPLEQVKAGIE    141 - 210
AHSEAKTSGLLWAGLALLSIQGGALAWLTWWVYSWDIMEPVTYFITFANSMVFFAYFIVTRQDYTYSAVK    211 - 280
SRQFLQFFHKKSKQQHFDVQQYNKLKEDLAKAKESLKQARHSLCLQMQVEELNEKN                  281 - 336
//

Text Mined References (11)

PMID Year Title
24231807 2013 EMRE is an essential component of the mitochondrial calcium uniporter complex.
23900286 2013 The mitochondrial calcium uniporter is a multimer that can include a dominant-negative pore-forming subunit.
23455636 2013 Seven new loci associated with age-related macular degeneration.
20332099 2010 A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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