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This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provide... See more...
Aliases for CMAS Gene
Aliases for CMAS Gene
External Ids for CMAS Gene
- HGNC: 18290
- Entrez Gene: 55907
- Ensembl: ENSG00000111726
- OMIM: 603316
- UniProtKB: Q8NFW8
Previous GeneCards Identifiers for CMAS Gene
- GC12P022551
- GC12P022200
- GC12P022099
- GC12P022090
- GC12P021972
- GC12P022199
Summaries for CMAS Gene
-
This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for CMAS Gene
CMAS (Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase) is a Protein Coding gene. Diseases associated with CMAS include Coffin-Siris Syndrome 1 and Coffin-Siris Syndrome 4. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include N-acylneuraminate cytidylyltransferase activity.
UniProtKB/Swiss-Prot Summary for CMAS Gene
-
Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN).
Additional gene information for CMAS Gene
- HGNC(18290)
- Entrez Gene(55907)
- Ensembl(ENSG00000111726)
- OMIM(603316)
- UniProtKB(Q8NFW8)
- Open Targets Platform(ENSG00000111726)
- Search for CMAS at DataMed
- Search for CMAS at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CMAS Gene
Genomics for CMAS Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CMAS Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH12J022045 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +1.4 | 1379 | 3.9 | PRDM10 ZNF629 SIX5 IKZF1 ZNF692 POLR2A JUND LARP7 ZNF143 ZIC2 | CMAS RECQL ST8SIA1 LDHB RF00017-1108 | |
| GH12J022014 | Enhancer | 0.4 | Ensembl | 11.4 | -31.5 | -31473 | 0.6 | GABPA RXRA RARA GABPB1 | CMAS LDHB ENSG00000256615 THEM4P1 ABCC9 | |
| GH12J022130 | Enhancer | 0.4 | ENCODE | 11.4 | +84.6 | 84625 | 1.1 | ATF3 FOS JUND JUN | CMAS piR-31534-125 SULT6B2P lnc-ABCC9-2 lnc-ST8SIA1-2 ST8SIA1 | |
| GH12J022041 | Enhancer | 0.8 | FANTOM5 ENCODE | 0.7 | -3.1 | -3069 | 3.8 | JUND FOXA1 CEBPA SOX13 EGR1 CEBPB YBX1 FOS FOSL2 DPF2 | ST8SIA1 CMAS THEM4P1 ABCC9 | |
| GH12J022034 | Enhancer | 0.6 | Ensembl ENCODE | 0.4 | -11.0 | -10974 | 2 | PRDM1 ESR1 CREB1 MYNN NFIC | CMAS THEM4P1 ABCC9 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CMAS on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CMAS
- Top Transcription factor binding sites by QIAGEN in the CMAS gene promoter:
-
- c-Ets-1
- C/EBPalpha
- FOXL1
- Hlf
- Lmo2
- Pax-5
- RP58
- STAT1
- STAT1alpha
- STAT1beta
Genomic Locations for CMAS Gene
Genomic Locations for CMAS Gene
- chr12:22,046,174-22,065,674
- (GRCh38/hg38)
- Size:
- 19,501 bases
- Orientation:
- Plus strand
- chr12:22,199,108-22,218,608
- (GRCh37/hg19)
- Size:
- 19,501 bases
- Orientation:
- Plus strand
Genomic View for CMAS Gene
Genes around CMAS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p12.1 by HGNC
- 12p12.1 by Entrez Gene
- 12p12.1 by Ensembl
CMAS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CMAS Gene
Proteins for CMAS Gene
-
Protein details for CMAS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NFW8-NEUA_HUMAN
- Recommended name:
- N-acylneuraminate cytidylyltransferase
- Protein Accession:
- Q8NFW8
- Q96AX5
- Q9NQZ0
Protein attributes for CMAS Gene
- Size:
- 434 amino acids
- Molecular mass:
- 48379 Da
- Quaternary structure:
-
- Homotetramer; the active enzyme is formed by a dimer of dimers.
Protein Expression for CMAS Gene
Selected DME Specific Peptides for CMAS Gene
- Q8NFW8:
-
- RPRRQDWDGEL
- SVDIDVDIDWP
- AQKAVGYICK
- LAGVPLIGWVLRAA
- IQATSPCLHP
- LARGGSKGIPLKNIK
- EIQKGVRE
- PRGRPSRGRPPKLQR
- WVSTDHDEIENVAKQFGAQVHRRSSE
- SKDSSTSLDAI
Post-translational modifications for CMAS Gene
Other Protein References for CMAS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CMAS
-
Abcam antibodies for CMAS
- Invitrogen Antibodies for CMAS (AFLGC-CMAS)
-
Biorbyt antibodies for CMAS
-
Boster Bio Antibodies for CMAS
-
Santa Cruz Biotechnology (SCBT) Antibodies for CMAS
- Sino Biological Antibodies for CMAS
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CMAS
- Origene Custom Protein Services for CMAS
-
Signalway Proteins for CMAS
-
Abcam proteins for CMAS
Assay Products
- antibodies-online: Show 7 available CMAS Elisa Kits ranked by validation data
- Compare Top CMAS Elisa Kits
-
Quality Products:
Domains & Families for CMAS Gene
Gene Families for CMAS Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for CMAS Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CMAS Gene
- GenScript: Design optimal peptide antigens:
-
- CMP-N-acetylneuraminic acid synthase (NEUA_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8NFW8UniProtKB/Swiss-Prot:
NEUA_HUMAN :- The BC2 (basic cluster 2) motif is necessary and sufficient for the nuclear localization and contains the catalytic active site. The localization in the nucleus is however not required for the enzyme activity (By similarity).
- Belongs to the CMP-NeuNAc synthase family.
- Domain:
-
- The BC2 (basic cluster 2) motif is necessary and sufficient for the nuclear localization and contains the catalytic active site. The localization in the nucleus is however not required for the enzyme activity (By similarity).
- Family:
-
- Belongs to the CMP-NeuNAc synthase family.
Function for CMAS Gene
Molecular function for CMAS Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the activation of N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc), a substrate required for the addition of sialic acid. Has some activity toward NeuNAc, N-glycolylneuraminic acid (Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=an N-acylneuraminate + CTP = a CMP-N-acyl-beta-neuraminate + diphosphate; Xref=Rhea:RHEA:11344, ChEBI:CHEBI:33019, ChEBI:CHEBI:37563, ChEBI:CHEBI:60073, ChEBI:CHEBI:68671; EC=2.7.7.43; Evidence={ECO:0000269|PubMed:11602804};.
Enzyme Numbers (IUBMB) for CMAS Gene
Phenotypes From GWAS Catalog for CMAS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008781 | N-acylneuraminate cytidylyltransferase activity | IBA | 21873635 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016779 | nucleotidyltransferase activity | IEA | -- |
Phenotypes for CMAS Gene
- MGI mutant phenotypes for CMAS:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CMAS:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Moderately decreased NFAT1-GFP nuclear translocation
- Increased gamma-H2AX phosphorylation
- Decreased transferrin (TF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Inconclusive
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased viability in ovarian lineage
- Decreased viability with paclitaxel
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CMAS - Select products 50% OFF >
- * CMAS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CMAS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CMAS
-
Santa Cruz Biotechnology (SCBT) CRISPR for CMAS
miRNA for CMAS Gene
- miRTarBase miRNAs that target CMAS
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CMAS
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Clone Products
- Applied Biological Materials (abm): Clones for CMAS - Select products 50% OFF >
- * CMAS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CMAS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CMAS
Cell Line Products
-
Horizon Cell Lines for CMAS
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CMAS Gene
Localization for CMAS Gene
Subcellular locations from UniProtKB/Swiss-Prot for CMAS Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoli (3)
- Cytosol (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,HDA | 21630459 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0016020 | membrane | HDA | 19946888 |
Pathways & Interactions for CMAS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Synthesis of substrates in N-glycan biosythesis | ||
| 2 | Metabolism of proteins | ||
| 3 | Amino sugar and nucleotide sugar metabolism | ||
| 4 | Metabolism | ||
| 5 | Transport to the Golgi and subsequent modification | ||
Pathways by source for CMAS Gene
1 BioSystems pathway for CMAS Gene
2 KEGG pathways for CMAS Gene
UniProtKB/Swiss-Prot Q8NFW8-NEUA_HUMAN
- Pathway: Amino-sugar metabolism; N-acetylneuraminate metabolism.
Interacting Proteins for CMAS Gene
GPS-Prot Interaction Network for CMAS
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006054 | N-acetylneuraminate metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for CMAS Gene
Drugs & Compounds for CMAS Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Phosphoric acid | Approved | Pharma | 0 | |||
| Cytidine-5'-Monophosphate-5-N-Acetylneuraminic Acid | Experimental | Pharma | Target | 0 | ||
| Cytidine monophosphate | Experimental | Pharma | 0 | |||
| Cytidine triphosphate | Experimental | Pharma | 0 | |||
| Aceneuramic acid | Investigational | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Deoxy-D-glycero-D-galacto-2-nonulosonic acid |
|
22594-61-2 |
|
|||
| CMP-N-glycoloylneuraminate |
|
98300-80-2 |
|
|||
| Cytidine monophosphate N-acetylneuraminic acid |
|
22-12-8 |
|
|||
| N-glycolylneuraminic acid |
|
1113-83-3 |
|
|||
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for CMAS Gene
mRNA/cDNA for CMAS Gene
- 1 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000229329 1748 nts (view in UCSC)
- ENST00000534981 1575 nts (view in UCSC)
- ENST00000535610 854 nts (view in UCSC)
- ENST00000538498 538 nts (view in UCSC)
- ENST00000537658 590 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CMAS - Select products 50% OFF >
- * CMAS CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CMAS
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CMAS
-
Santa Cruz Biotechnology (SCBT) CRISPR for CMAS
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CMAS
- Browse OriGene Inhibitory RNA Products For CMAS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CMAS
Clone Products
- Applied Biological Materials (abm): Clones for CMAS - Select products 50% OFF >
- * CMAS as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CMAS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CMAS
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||
| SP3: |
Relevant External Links for CMAS Gene
- GeneLoc Exon Structure for
- CMAS
Expression for CMAS Gene
This gene is overexpressed in Testis (10.2), Peripheral blood mononuclear cells (10.0), and Fetal testis (7.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CMAS Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CMAS
SOURCE GeneReport for Unigene cluster for CMAS Gene:
Hs.311346mRNA Expression by UniProt/SwissProt for CMAS Gene:
Q8NFW8-NEUA_HUMAN
Tissue specificity:
Ubiquitously expressed. Expressed in pancreas, kidney, liver, skeletal muscle, lung, placenta, brain, heart, colon, PBL, small intestine, ovary, testis, prostate, thymus and spleen.
Evidence on tissue expression from TISSUES for CMAS Gene
- Liver(4.5)
- Stomach(4.4)
- Nervous system(4)
- Intestine(3.2)
- Blood(3.1)
- Skin(2.7)
- Kidney(2.4)
- Heart(2.4)
- Muscle(2.3)
- Bone marrow(2.2)
- Adrenal gland(2.1)
Primer Products
-
OriGene qPCR primer pairs for CMAS
-
OriGene qPCR primer pairs and template standards for CMAS
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CMAS Gene
Orthologs for CMAS Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CMAS 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CMAS 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CMAS 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cmas 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cmas 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CMAS 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CMAS 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CMAS 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CMAS 31 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7491 30 |
|
||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.20222 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | CMAS (3 of 3) 31 |
|
OneToMany | |
| cmasa 30 31 |
|
OneToMany | |||
| cmasb 31 |
|
OneToMany | |||
| Dr.7145 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12074 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004527 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Csas 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for CMAS was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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 CMAS Gene
- ENSEMBL:
- Gene Tree for CMAS (if available)
- TreeFam:
- Gene Tree for CMAS (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CMAS: view image
Paralogs for CMAS Gene
No data available for Paralogs for CMAS Gene
Variants for CMAS Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CMAS Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 778585 | Benign: not provided | 22,046,381(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 779520 | Benign: not provided | 22,062,440(+) | T/TATC | INTRON_VARIANT | |
| 790461 | Benign: not provided | 22,065,215(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2759883 | CNV | gain+loss | 17122850 |
| nsv1134208 | CNV | deletion | 24896259 |
| nsv438196 | CNV | loss | 16468122 |
Residual Variation Intolerance Score:
30.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.84;
17.61% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CMAS Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CMAS
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CMAS Gene
Disorders for CMAS Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| coffin-siris syndrome 1 |
|
|
| coffin-siris syndrome 4 |
|
|
| coffin-siris syndrome 3 |
|
|
| coffin-siris syndrome 2 |
|
|
| rigid spine muscular dystrophy 1 |
|
|
Search CMAS in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CMAS
No data available for UniProtKB/Swiss-Prot and Genatlas for CMAS Gene
Publications for CMAS Gene
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- 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
- Cloning and expression of human sialic acid pathway genes to generate CMP-sialic acids in insect cells. (PMID: 11602804) Lawrence SM … Betenbaugh MJ (Glycoconjugate journal 2001) 3 4
- Mammalian cytidine 5'-monophosphate N-acetylneuraminic acid synthetase: a nuclear protein with evolutionarily conserved structural motifs. (PMID: 9689047) Münster AK … Gerardy-Schahn R (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3
- H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3
ExternalLinks
Products for CMAS Gene
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- Abcam proteins for CMAS
- Find your target
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- Invitrogen Antibodies for CMAS (AFLGC-CMAS)
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- VectorBuilder Viral vectors for CMAS (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CMAS (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CMAS CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CMAS
- antibodies-online: Show 23 available CMAS Antibodies ranked by validation data
- Compare Top CMAS Antibodies
- antibodies-online: Show 7 available CMAS Elisa Kits ranked by validation data
- Compare Top CMAS Elisa Kits
- Quality Products:
- antibodies-online: Show 13 available CMAS Proteins ranked by validation data
- Compare Top CMAS Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for CMAS
- Search Santa Cruz Biotechnology (SCBT) for CMAS siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CMAS
- Horizon Cell Lines for CMAS
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CMAS
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CMAS
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CMAS
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CMAS
- Boster Bio Antibodies for CMAS
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for CMAS
- Signalway Proteins for CMAS
Sources for CMAS Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB