Aliases for MOSMO Gene

Aliases for MOSMO Gene

  • Modulator Of Smoothened 2 3 5
  • Attenuator Of Hedgehog 2 3 4
  • Modulator Of Smoothened Protein 3 4
  • C16orf52 3 4
  • ATTHOG 3 4
  • Chromosome 16 Open Reading Frame 52 2
  • Uncharacterized Protein C16orf52 3
  • BC030336 3

External Ids for MOSMO Gene

Previous HGNC Symbols for MOSMO Gene

  • C16orf52

Summaries for MOSMO Gene

GeneCards Summary for MOSMO Gene

MOSMO (Modulator Of Smoothened) is a Protein Coding gene. Diseases associated with MOSMO include Chromosome 18P Deletion Syndrome. Among its related pathways are Hedgehog signaling pathway (KEGG).

UniProtKB/Swiss-Prot Summary for MOSMO Gene

  • Acts as a negative regulator of hedgehog signaling probably by promoting internalization and subsequent degradation of smoothened protein (SMO) present in the ciliary membrane. Plays a role in sonic hedgehog (SHH)-induced spinal neural progenitor cells differentiation.

Additional gene information for MOSMO Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MOSMO Gene

Genomics for MOSMO Gene

GeneHancer (GH) Regulatory Elements for MOSMO Gene

Promoters and enhancers for MOSMO Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MOSMO on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MOSMO

Genomic Locations for MOSMO Gene

Genomic Locations for MOSMO Gene
chr16:22,007,638-22,087,534
(GRCh38/hg38)
Size:
79,897 bases
Orientation:
Plus strand
chr16:22,018,959-22,098,855
(GRCh37/hg19)
Size:
79,897 bases
Orientation:
Plus strand

Genomic View for MOSMO Gene

Genes around MOSMO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MOSMO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MOSMO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MOSMO Gene

Proteins for MOSMO Gene

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

    Protein Symbol:
    Q8NHV5-MOSMO_HUMAN
    Recommended name:
    Modulator of smoothened protein
    Protein Accession:
    Q8NHV5
    Secondary Accessions:
    • H3BNM6

    Protein attributes for MOSMO Gene

    Size:
    167 amino acids
    Molecular mass:
    18250 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for MOSMO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MOSMO Gene

Post-translational modifications for MOSMO Gene

  • Glycosylation at Asn135
  • Modification sites at PhosphoSitePlus

Other Protein References for MOSMO Gene

No data available for DME Specific Peptides for MOSMO Gene

Domains & Families for MOSMO Gene

Gene Families for MOSMO Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MOSMO Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with MOSMO: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MOSMO Gene

Function for MOSMO Gene

Molecular function for MOSMO Gene

UniProtKB/Swiss-Prot Function:
Acts as a negative regulator of hedgehog signaling probably by promoting internalization and subsequent degradation of smoothened protein (SMO) present in the ciliary membrane. Plays a role in sonic hedgehog (SHH)-induced spinal neural progenitor cells differentiation.

Phenotypes From GWAS Catalog for MOSMO Gene

miRNA for MOSMO Gene

miRTarBase miRNAs that target MOSMO

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MOSMO Gene

Localization for MOSMO Gene

Subcellular locations from UniProtKB/Swiss-Prot for MOSMO Gene

Cell projection, cilium membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MOSMO gene
Compartment Confidence
plasma membrane 4
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for MOSMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with MOSMO: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MOSMO Gene

Pathways & Interactions for MOSMO Gene

PathCards logo

SuperPathways for MOSMO Gene

genes like me logo Genes that share pathways with MOSMO: view

Pathways by source for MOSMO Gene

1 KEGG pathway for MOSMO Gene

Interacting Proteins for MOSMO Gene

;

Gene Ontology (GO) - Biological Process for MOSMO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
GO:0031647 regulation of protein stability ISS --
GO:0045664 regulation of neuron differentiation ISS --
GO:0045879 negative regulation of smoothened signaling pathway ISS,IBA --
genes like me logo Genes that share ontologies with MOSMO: view

No data available for SIGNOR curated interactions for MOSMO Gene

Drugs & Compounds for MOSMO Gene

No Compound Related Data Available

Transcripts for MOSMO Gene

mRNA/cDNA for MOSMO Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for MOSMO Gene

GeneLoc Exon Structure for
MOSMO

Expression for MOSMO Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MOSMO

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MOSMO Gene

Orthologs for MOSMO Gene

This gene was present in the common ancestor of animals.

Orthologs for MOSMO Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia C16orf52 31
  • 100 (a)
OneToOne
C6H16orf52 30
  • 98.2 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C16orf52 31
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C16H16orf52 30
  • 100 (n)
cow
(Bos Taurus)
Mammalia C16orf52 31
  • 99 (a)
OneToOne
C25H16orf52 30
  • 98 (n)
oppossum
(Monodelphis domestica)
Mammalia C16orf52 31
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia BC030336 31 30
  • 97.01 (n)
OneToOne
Mosmo 17
rat
(Rattus norvegicus)
Mammalia LOC102547219 30
  • 96.18 (n)
chicken
(Gallus gallus)
Aves C16orf52 31
  • 99 (a)
OneToOne
C14H16ORF52 30
  • 90.02 (n)
lizard
(Anolis carolinensis)
Reptilia C16orf52 31
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c16orf52 30
  • 86.83 (n)
zebrafish
(Danio rerio)
Actinopterygii C12H16orf52 31
  • 90 (a)
OneToOne
LOC100535551 30
  • 82.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14182 31 30
  • 55.42 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012207 30
  • 54.14 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6797 31
  • 48 (a)
OneToOne
Species where no ortholog for MOSMO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MOSMO Gene

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

Paralogs for MOSMO Gene

Pseudogenes.org Pseudogenes for MOSMO Gene

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

No data available for Paralogs for MOSMO Gene

Variants for MOSMO Gene

Additional dbSNP identifiers (rs#s) for MOSMO Gene

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

Variant ID Type Subtype PubMed ID
dgv3n1 OTHER inversion 15895083
dgv47n16 OTHER inversion 17901297
esv2672814 CNV deletion 23128226
esv3368991 OTHER inversion 20981092
esv3553223 CNV deletion 23714750
esv3638193 CNV gain 21293372
esv3638194 CNV loss 21293372
esv3638195 CNV gain 21293372
esv3638196 CNV gain 21293372
esv998989 OTHER inversion 20482838
nsv1069929 CNV deletion 25765185
nsv1070758 CNV deletion 25765185
nsv1077770 OTHER inversion 25765185
nsv1140248 OTHER inversion 24896259
nsv428322 CNV gain 18775914
nsv469628 CNV gain 16826518
nsv499139 OTHER inversion 21111241
nsv7280 OTHER inversion 18451855

Variation tolerance for MOSMO Gene

Gene Damage Index Score: 6.38; 77.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MOSMO Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MOSMO

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MOSMO Gene

Disorders for MOSMO Gene

MalaCards: The human disease database

(1) MalaCards diseases for MOSMO Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 18p deletion syndrome
  • 18p- syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MOSMO in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MOSMO

genes like me logo Genes that share disorders with MOSMO: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MOSMO Gene

Publications for MOSMO Gene

  1. CRISPR Screens Uncover Genes that Regulate Target Cell Sensitivity to the Morphogen Sonic Hedgehog. (PMID: 29290584) Pusapati GV … Rohatgi R (Developmental cell 2018) 2 3 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 3 4 54
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for MOSMO Gene

Sources for MOSMO Gene