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Aliases for CCDC109B Gene

Aliases for CCDC109B Gene

  • Coiled-Coil Domain Containing 109B 2 3
  • Coiled-Coil Domain-Containing Protein 109B 3 4
  • MCUb 3 4
  • Calcium Uniporter Regulatory Subunit MCUb, Mitochondrial 3
  • Mitochondrial Calcium Uniporter Regulatory Subunit MCUb 3

External Ids for CCDC109B Gene

Summaries for CCDC109B Gene

GeneCards Summary for CCDC109B Gene

CCDC109B (Coiled-Coil Domain Containing 109B) is a Protein Coding gene. GO annotations related to this gene include ion channel activity and calcium channel inhibitor activity. An important paralog of this gene is MCU.

UniProtKB/Swiss-Prot for CCDC109B Gene

  • Negatively regulates the activity of MCU, the mitochondrial inner membrane calcium uniporter, and thereby modulates calcium uptake into the mitochondrion. Does not form functional calcium channels by itself. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC109B Gene

Genomics for CCDC109B Gene

Genomic Location for CCDC109B Gene

Start:
109,560,199 bp from pter
End:
109,688,726 bp from pter
Size:
128,528 bases
Orientation:
Plus strand

Genomic View for CCDC109B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCDC109B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC109B Gene

Regulatory Elements for CCDC109B Gene

Proteins for CCDC109B Gene

  • Protein details for CCDC109B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWR8-MCUB_HUMAN
    Recommended name:
    Calcium uniporter regulatory subunit MCUb, mitochondrial
    Protein Accession:
    Q9NWR8
    Secondary Accessions:
    • A8K4Y3
    • Q6IAC1

    Protein attributes for CCDC109B Gene

    Size:
    336 amino acids
    Molecular mass:
    39082 Da
    Quaternary structure:
    • Heterotetramer with MCU; this reduces MCU channel activity. Homooligomer (By similarity). Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1.
    SequenceCaution:
    • Sequence=AAH02633.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91309.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for CCDC109B Gene

Proteomics data for CCDC109B Gene at MOPED

Post-translational modifications for CCDC109B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC109B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC109B Gene

Domains for CCDC109B Gene

Protein Domains for CCDC109B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC109B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NWR8

UniProtKB/Swiss-Prot:

MCUB_HUMAN
Family:
  • Belongs to the MCU (TC 1.A.77) family.:
    • Q9NWR8
genes like me logo Genes that share domains with CCDC109B: view

No data available for Gene Families for CCDC109B Gene

Function for CCDC109B Gene

Molecular function for CCDC109B Gene

UniProtKB/Swiss-Prot Function: Negatively regulates the activity of MCU, the mitochondrial inner membrane calcium uniporter, and thereby modulates calcium uptake into the mitochondrion. Does not form functional calcium channels by itself. Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways.

Gene Ontology (GO) - Molecular Function for CCDC109B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 NOT ion channel activity ISS --
GO:0005515 protein binding --
GO:0019855 calcium channel inhibitor activity ISS --
genes like me logo Genes that share ontologies with CCDC109B: view

Phenotypes for CCDC109B Gene

GenomeRNAi human phenotypes for CCDC109B:
genes like me logo Genes that share phenotypes with CCDC109B: view

miRNA for CCDC109B Gene

miRTarBase miRNAs that target CCDC109B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CCDC109B Gene

Localization for CCDC109B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC109B Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCDC109B Gene COMPARTMENTS Subcellular localization image for CCDC109B gene
Compartment Confidence
mitochondrion 2
cytosol 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CCDC109B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0031224 intrinsic component of membrane ISS --
GO:0031305 integral component of mitochondrial inner membrane IDA 24231807
GO:0034704 calcium channel complex ISS --
GO:1990246 uniplex complex IDA 24231807
genes like me logo Genes that share ontologies with CCDC109B: view

Pathways for CCDC109B Gene

SuperPathways for CCDC109B Gene

No Data Available

Interacting Proteins for CCDC109B Gene

Gene Ontology (GO) - Biological Process for CCDC109B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006851 mitochondrial calcium ion transport ISS --
GO:0051560 mitochondrial calcium ion homeostasis ISS --
genes like me logo Genes that share ontologies with CCDC109B: view

No data available for Pathways by source for CCDC109B Gene

Transcripts for CCDC109B Gene

Unigene Clusters for CCDC109B Gene

Coiled-coil domain containing 109B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC109B Gene

No ASD Table

Relevant External Links for CCDC109B Gene

GeneLoc Exon Structure for
CCDC109B
ECgene alternative splicing isoforms for
CCDC109B

Expression for CCDC109B Gene

mRNA expression in normal human tissues for CCDC109B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC109B Gene

This gene is overexpressed in Whole Blood (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CCDC109B Gene

SOURCE GeneReport for Unigene cluster for CCDC109B Gene Hs.234149

genes like me logo Genes that share expressions with CCDC109B: view

No data available for mRNA Expression by UniProt/SwissProt for CCDC109B Gene

Orthologs for CCDC109B Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC109B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC109B 35
  • 99.11 (n)
  • 98.21 (a)
CCDC109B 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC109B 35
  • 86.59 (n)
  • 81.68 (a)
CCDC109B 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC109B 35
  • 85.22 (n)
  • 81.55 (a)
CCDC109B 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc109b 35
  • 77.48 (n)
  • 73.51 (a)
Ccdc109b 16
Ccdc109b 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC109B 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC109B 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc109b 35
  • 77.58 (n)
  • 72.97 (a)
chicken
(Gallus gallus)
Aves CCDC109B 35
  • 68.97 (n)
  • 62.07 (a)
CCDC109B 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC109B 36
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21402 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc109b 35
  • 63.86 (n)
  • 55.22 (a)
Str.15484 35
fruit fly
(Drosophila melanogaster)
Insecta CG18769 36
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mcu-1 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for CCDC109B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for CCDC109B Gene

ENSEMBL:
Gene Tree for CCDC109B (if available)
TreeFam:
Gene Tree for CCDC109B (if available)

Paralogs for CCDC109B Gene

Paralogs for CCDC109B Gene

Selected SIMAP similar genes for CCDC109B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CCDC109B: view

Variants for CCDC109B Gene

Sequence variations from dbSNP and Humsavar for CCDC109B Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs13846 - 109,684,588(+) TACAT(A/T)CTTCA reference, missense
rs149771 -- 109,598,156(+) tgggc(A/G)gccag intron-variant
rs149772 -- 109,591,803(+) aagca(A/G)ttctc intron-variant
rs149799 -- 109,596,027(+) TCCTT(A/C)ACCTG intron-variant
rs149800 -- 109,594,315(+) GTCCA(A/G)TTTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC109B Gene

Variant ID Type Subtype PubMed ID
nsv461613 CNV Gain 19166990
esv2518482 CNV Deletion 19546169
esv2350206 CNV Deletion 18987734
esv3474 CNV Deletion 18987735
esv2658349 CNV Deletion 23128226
nsv292142 CNV Loss 16902084
esv2728129 CNV Deletion 23290073
esv7767 CNV Loss 19470904
nsv822683 CNV Gain 20364138
nsv508303 CNV Loss 20534489
esv272340 CNV Insertion 20981092

Relevant External Links for CCDC109B Gene

HapMap Linkage Disequilibrium report
CCDC109B
Human Gene Mutation Database (HGMD)
CCDC109B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC109B Gene

Disorders for CCDC109B Gene

Relevant External Links for CCDC109B

Genetic Association Database (GAD)
CCDC109B
Human Genome Epidemiology (HuGE) Navigator
CCDC109B
genes like me logo Genes that share disorders with CCDC109B: view

No data available for UniProtKB/Swiss-Prot for CCDC109B Gene

Publications for CCDC109B Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  2. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 48
  3. 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. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 48
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for CCDC109B Gene

Sources for CCDC109B Gene

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