Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CMAHP Gene

pseudogene   GIFtS: 35
GCID: GC06M025082

Cytidine Monophospho-N-Acetylneuraminic Acid Hydroxylase,...

(Previous name: cytidine monophosphate-N-acetylneuraminic acid hydroxylase...)
(Previous symbol: CMAH)
  See CMAHP-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Cytidine Monophospho-N-Acetylneuraminic Acid Hydroxylase,
Pseudogene1 2
     CMP-NeuAc Hydroxylase-Like Protein3
CMAH1 2 3 5     Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase Pseudogene3
Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase
(CMP-N-Acetylneuraminate Monooxygenase)(Pseudogene)1
     EC 1.14.18.28
CSAH2     

External Ids:    HGNC: 20981   Entrez Gene: 84182   Ensembl: ENSG000001684057   OMIM: 6032095   UniProtKB: Q9Y4713   

Export aliases for CMAHP gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for CMAHP Gene:
Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor,
cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are
N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of
sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant
sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is
due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase,
an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase
enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA
differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the
mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human.
It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is
undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur
in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes
indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CMAHP Gene:
CMAHP (cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene) is a pseudogene. Diseases associated with CMAHP include charge syndrome. GO annotations related to this gene include 2 iron, 2 sulfur cluster binding and CMP-N-acetylneuraminate monooxygenase activity.

Gene Wiki entry for CMAHP (CMAH) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CMAHP
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CMAHP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CMAHP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.32   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p23-p22

CMAHP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CMAHP gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M025082:  view genomic region     (about GC identifiers)

Start:
25,081,295 bp from pter      End:
25,166,793 bp from pter
Size:
85,499 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for CMAHP

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CMAH_HUMAN, Q9Y471 (See protein sequence)
Recommended Name: Putative cytidine monophosphate-N-acetylneuraminic acid hydroxylase-like protein  
Size: 72 amino acids; 8042 Da
Caution: Could be the product of a pseudogene. An Alu-mediated inactivating mutation of this gene occured in
common ancestors of humans and Neanderthals approximately 2.1-2.2 million years ago, before brain expansion. The
resulting product is a truncated and most probably inactive enzyme explaining the absence CMP-Neu5Gc sialic acid
in human, while it is abundantly expressed at the surface of many cells in other vertebrates (PubMed:9751737 and
PubMed:12192086)
Sequence caution: Sequence=BAA31160.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAA31198.1;
Type=Erroneous gene model prediction; Sequence=CAI20561.1; Type=Erroneous gene model prediction;
Sequence=CAI20562.1; Type=Erroneous gene model prediction; Sequence=CAI20563.1; Type=Erroneous gene model
prediction; Sequence=CAI20564.1; Type=Erroneous gene model prediction;
Secondary accessions: O95250 Q5TD41 Q5TD42 Q5TD43 Q5TD44 Q68DC3 Q9UEE7

Explore the universe of human proteins at neXtProt for CMAHP: NX_Q9Y471

Explore proteomics data for CMAHP at MOPED

2 DME Specific Peptides for CMAHP (Q9Y471)
 KSRLRACKN  QTTEILLCLSPVEVA 


See CMAHP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


CMAHP Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
Browse OriGene Protein Over-expression Lysates
OriGene Custom MassSpec
OriGene Custom Protein Services for CMAHP
GenScript Custom Purified and Recombinant Proteins Services for CMAHP
Novus Biologicals CMAHP Protein
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Browse Proteins at Cloud-Clone Corp.

 
Search eBioscience for Proteins for CMAHP 

CMAHP Antibody Products:

Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for CMAHP
Novus Biologicals CMAHP Antibodies
Search for Antibodies for CMAHP at Abcam
Browse Antibodies at Cloud-Clone Corp.
Search ThermoFisher Antibodies for CMAHP
Search LSBio for Antibodies for CMAHP

CMAHP Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for CMAHP
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for CMAHP
Browse Enzo Life Sciences for kits & assays
Browse ELISAs at Cloud-Clone Corp.
Browse CLIAs at Cloud-Clone Corp.
Search eBioscience for ELISAs for CMAHP 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus
1 InterPro protein domain:
 IPR017941 Rieske_2Fe-2S

Graphical View of Domain Structure for InterPro Entry Q9Y471

ProtoNet protein and cluster: Q9Y471

UniProtKB/Swiss-Prot: CMAH_HUMAN, Q9Y471
Similarity: Belongs to the CMP-Neu5Ac hydroxylase family
Similarity: Contains 1 Rieske domain


Find genes that share domains with CMAHP           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

     Enzyme Number (IUBMB): EC 1.14.18.22

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030338NOT CMP-N-acetylneuraminate monooxygenase activity NAS9751737
GO:00515372 iron, 2 sulfur cluster binding IEA--
     
Find genes that share ontologies with CMAHP           About GenesLikeMe


Phenotypes:
     8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cmah):
 behavior/neurological  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
 mortality/aging  muscle  nervous system 

Find genes that share phenotypes with CMAHP           About GenesLikeMe

Animal Models:
     MGI mouse knock-outs for CMAHP: Cmahtm1Ykoz Cmahtm1Avrk

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CMAHP
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CMAHP

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CMAHP
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CMAHP

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat CMAHP using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate CMAHP
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for CMAHP
Predesigned siRNA for gene silencing in human, mouse, rat CMAHP

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for CMAHP

Clone
Products:
     
OriGene clones in human, mouse for CMAHP (see all 3)
OriGene ORF clones in mouse, rat for CMAHP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript Custom all cDNA clones Services for CMAHP
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CMAHP
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CMAHP

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for CMAHP
Browse ESI BIO Cell Lines and PureStem Progenitors for CMAHP 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMAHP


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm TAS7608218

Find genes that share ontologies with CMAHP           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus



    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CMAHP
Interactions:

    Search GeneGlobe Interaction Network for CMAHP

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

Find genes that share ontologies with CMAHP           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CMAHP (CMAH)

2 Novoseek inferred chemical compound relationships for CMAHP gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
n-glycolylneuraminic acid 97.5 10 20047559 (2), 12880951 (1), 9343941 (1), 20445087 (1) (see all 7)
sialic acid 79.1 9 12880951 (1), 19666593 (1), 12192086 (1), 18777136 (1) (see all 6)



Find genes that share compounds with CMAHP           About GenesLikeMe



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

TryGeneCards Plus

Unigene Cluster for CMAHP:

Cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene
Hs.484918  [show with all ESTs]
Unigene Representative Sequence: AK000716
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000471416 ENST00000377989(uc003nes.3 uc003new.3) ENST00000493257
ENST00000377993(uc003ner.4) ENST00000490939 ENST00000493981 ENST00000458373
ENST00000462823 ENST00000436589 ENST00000424282(uc011djv.1)
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat CMAHP using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate CMAHP
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for CMAHP
Predesigned siRNA for gene silencing in human, mouse, rat CMAHP
Clone
Products:
     
OriGene clones in human, mouse for CMAHP (see all 3)
OriGene ORF clones in mouse, rat for CMAHP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript Custom all cDNA clones Services for CMAHP
DNA2.0 Custom Codon Optimized Gene Synthesis Service for CMAHP
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CMAHP
Primer
Products:
    
Browse OriGene qPCR
Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CMAHP
  Search QuantiTect SYBR Green Assays in human, mouse, rat CMAHP
  QuantiFast Probe-based Assays in human, mouse, rat CMAHP

Additional mRNA sequence: 

AK000716.1 AK126231.1 AK303297.1 BC022302.1 BC032500.1 BC059791.1 D86324.1 FJ794466.1 
NR_002174.2 NR_027626.1 

20 DOTS entries:

DT.100779448  DT.75141068  DT.40244723  DT.99995337  DT.210905  DT.40118908  DT.86849482  DT.92429687 
DT.97810275  DT.121306771  DT.121306977  DT.99980130  DT.121306907  DT.121306960  DT.99969112  DT.100752274 
DT.102842970  DT.121306976  DT.309099  DT.92429681 

Selected AceView cDNA sequences (see all 144):

CA312822 CR749466 BQ573819 CR595916 CA447777 BC022302 AA905192 CA413870 
AI275975 BU677545 CR611086 BQ723142 BQ183261 AW519185 AA287350 AA700274 
AK126231 AF074480 AL583055 BI835680 AI554381 AA700291 CD692099 BX116225 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for CMAHP (see all 15)    About this scheme

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ·
SP1:                                                        -     -                 -                                         -     -     -                 -   
SP2:                                                        -     -                 -                                         -     -     -                 -   
SP3:              -     -     -     -     -                 -     -                 -                                                                           
SP4:                                                                                                                                                        -   
SP5:                                      -                 -     -                 -     -     -     -     -                 -     -                           

ExUns: 11e ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d
SP1:  -                                   -     -           -                     
SP2:  -                                   -     -                                 
SP3:                                                                              
SP4:  -                                   -     -                                 
SP5:                                                                              


ECgene alternative splicing isoforms for CMAHP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

CMAHP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CATAACAATA
CMAHP Expression
About this image


CMAHP expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Neural Crest (Gastrulation Derivatives)
         PureStem 4D20.8, NCr-fac Progenitor
 
 Adipose (Muscoskeletal System)
         Body Subcutaneous White Adipose
CMAHP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CMAHP Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.484918

UniProtKB/Swiss-Prot: CMAH_HUMAN, Q9Y471
Tissue specificity: Widely expressed. Highly expressed in thymus. Not expressed in brain

    Custom PCR Arrays for CMAHP
Primer
Products:
Browse OriGene qPCR
Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CMAHP
Search QuantiTect SYBR Green Assays in human, mouse, rat CMAHP
QuantiFast Probe-based Assays in human, mouse, rat CMAHP
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMAHP

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

TryGeneCards Plus

This gene was present in the common ancestor of human and mouse.

Orthologs for CMAHP gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cmah5 cytidine monophospho-N-acetylneuraminic acid hydroxylase   --   13 (10.34 cM) 24376083 


ENSEMBL Gene Tree for CMAHP (if available)
TreeFam Gene Tree for CMAHP (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section

TryGeneCards Plus
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Selected SNPs for CMAHP (see all 1420)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 6 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs3030111,2
C,F,H--25080848(-) TGAATG/TCCTCA 1 -- int116Minor allele frequency- T:0.13NS EA NA WA 2136
rs1460853961,2
C--25080894(+) GGAGG-/AAAAAT 1 -- int10--------
rs1130904791,2
F--25080934(+) TTGAGG/TTTCCT 1 -- int11Minor allele frequency- T:0.00CSA 1
rs1923466311,2
--25080957(+) CTTGGC/TAGCAG 1 -- int10--------
rs1417720181,2
--25081001(+) TATTCG/TGAAGA 1 -- int10--------
rs94610971,2
C,F--25081018(+) TGACAA/GTTTGT 1 -- int11Minor allele frequency- G:0.03WA 118
rs775811311,2
C,F--25081123(+) CAGGAA/GATGTG 1 -- int13Minor allele frequency- G:0.04WA NA EA 358
rs1837726801,2
--25081136(+) GTATAC/TGCGAG 1 -- int10--------
rs772312821,2
C,F--25081215(+) TCAAAG/TAACTG 1 -- int11Minor allele frequency- T:0.02WA 118
rs1891475541,2
--25081391(+) TGAATA/CATTTA 1 -- nc-transcript-variant0--------

HapMap Linkage Disequilibrium report for CMAHP (25081295 - 25166793 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for CMAHP:    About this table    
Variant IDTypeSubtypePubMed ID
esv2731720CNV Deletion23290073
esv270043CNV Insertion20981092
esv273046CNV Insertion20981092
nsv349859CNV Insertion16902084
nsv830611CNV Loss17160897
nsv470806CNV Loss18288195
nsv830610CNV Loss17160897
nsv462662CNV Loss19166990

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CMAHP
DNA2.0 Custom Variant and Variant Library Synthesis for CMAHP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TryGeneCards Plus
OMIM gene information: 603209    OMIM disorders: --

1 disease for CMAHP:    
About MalaCards
charge syndrome


Find genes that share disorders with CMAHP           About GenesLikeMe

1 Novoseek inferred disease relationship for CMAHP gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
melanoma 4.02 1 8262898 (1)


Export disorders for CMAHP gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

TryGeneCards Plus

PubMed articles for CMAHP gene, integrated from 10 sources (see all 37):
(articles sorted by number of sources associating them with CMAHP)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The molecular basis for the absence of N-glycolylneuraminic acid in humans. (PubMed id 9624188)1, 2, 3, 9 Irie A.... Suzuki A. (J. Biol. Chem. 1998)
  2. Inactivation of CMP-N-acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution. (PubMed id 12192086)1, 2, 9 Chou H.-H.... Varki A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  3. Molecular cloning of cytidine monophospho-N-acetylneuraminic acid hydroxylase. Regulation of species- and tissue-specific expression of N-glycolylneuraminic acid. (PubMed id 7608218)1, 3, 9 Kawano T....Suzuki A. (J. Biol. Chem. 1995)
  4. A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence. (PubMed id 9751737)1, 2, 9 Chou H.-H.... Varki A. (Proc. Natl. Acad. Sci. U.S.A. 1998)
  5. Alu-mediated inactivation of the human CMP-N-acetylneuraminic acid hydroxylase gene. (PubMed id 11562455)1, 2, 9 Hayakawa T.... Takahata N. (Proc. Natl. Acad. Sci. U.S.A. 2001)
  6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
  7. Human CMP-N-acetylneuraminic acid hydroxylase is a novel stem cell marker linked to stem cell-specific mechanisms. (PubMed id 19890979)1, 9 Nystedt J....Laine J. (Stem Cells 2010)
  8. CMP-N-Acetylneuraminic acid hydroxylase is exclusively inactive in humans. (PubMed id 9675135)1, 9 Irie A. and Suzuki A. (Biochem. Biophys. Res. Commun. 1998)
  9. Fixation of the human-specific CMP-N-acetylneuraminic acid hydroxylase pseudogene and implications of haplotype diversity for human evolution. (PubMed id 16272417)1, 9 Hayakawa T....Takahata N. (Genetics 2006)
  10. N-glycolylneuraminic acid deficiency in humans. (PubMed id 11522390)1, 9 Varki A. (Biochimie 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

TryGeneCards Plus
 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

TryGeneCards Plus
Entrez Gene: 8418 HGNC: 2098 AceView: CMAH Ensembl:ENSG00000168405 euGenes: HUgn8418
ECgene: CMAHP H-InvDB: CMAHP

(According to HUGE)
About This Section

TryGeneCards Plus
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

TryGeneCards Plus
NameDescription
PharmGKB entry for CMAHP Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section

TryGeneCards Plus
Patent Information for CMAHP gene:
Search GeneIP for patents involving CMAHP

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

TryGeneCards Plus

 
 EMD Millipore genomic analysis products

  
 Browse Antibodies   Browse Cell Culture Products  
 Browse ELISAs   Browse Flow Cytometry Kits  
 Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
 Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
 Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
 Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
 Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
 Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
 Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
 Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for CMAHP  
 Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
 OriGene Custom Mass Spec   OriGene clones in human, mouse for CMAHP  
 Browse OriGene qSTAR qPCR primer pairs   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
 OriGene ORF clones in mouse, rat for CMAHP   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
 OriGene Custom Antibody Services for CMAHP   OriGene Custom Protein Services for CMAHP  

 
 
 Block miRNA regulation of human, mouse, rat CMAHP using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CMAHP
 DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CMAHP Predesigned siRNA for gene silencing in human, mouse, rat CMAHP
 QuantiFast Probe-based Assays in human, mouse, rat CMAHP Search QuantiTect SYBR Green Assays in human, mouse, rat CMAHP
 Custom PCR Arrays for CMAHP Search Chromatin IP Primers for CMAHP
 Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CMAHP Search GeneGlobe Interaction Network for CMAHP
 Search Regulatory tfbs for CMAHP
 GenScript Custom Purified and Recombinant Proteins Services for CMAHP GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for CMAHP
 GenScript Custom Assay Services for CMAHP GenScript Custom overexpressing Cell Line Services for CMAHP
 CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
 Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
 Plasmid Preparation Custom Peptide Services
 Search for Antibodies & Assays

 Search Tocris compounds for CMAHP (CMAH)
 Browse Sino Biological Proteins
 Browse Sino Biological Cell Lysates
 Browse Sino Biological cDNA Clones
 4000+ Proteins
 Search Sino Biological for antibodies, proteins & pathways
 Protein Production Services
 Transfection Reagents
 Protein A/G/L resins
 Isotyping reagents
 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
 CMAHP antibodies
 CMAHP proteins
 Search for Antibodies for CMAHP at Abcam
 See all of Abcam's Antibodies, Kits and Proteins for CMAHP
 Custom Antibody / Protein Production Service
 Bulk Purchasing
 Advantages of Rabbit Monoclonal antibodies
 Abcam protocols and scientific support
 Browse ProSpec Recombinant Proteins
 Browse Proteins at Cloud-Clone Corp.
 Browse Antibodies at Cloud-Clone Corp.
 Browse ELISAs at Cloud-Clone Corp.
 Browse CLIAs at Cloud-Clone Corp.



 Browse ESI BIO Cell Lines and PureStem Progenitors for CMAHP
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMAHP
 Browse SwitchGear 3'UTR luciferase reporter plasmids for CMAHP
 Browse SwitchGear Promoter luciferase reporter plasmids for CMAHP
 Search ThermoFisher Antibodies for CMAHP
 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CMAHP
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CMAHP
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CMAHP
 Search LSBio for Antibodies for CMAHP
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
 Search Addgene for plasmids for CMAHP
  Search eBioscience for proteins for CMAHP
  Search eBioscience for elisas for CMAHP
  eBioscience FlowRNA Probe Sets
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

View Random Gene

Category
(GIFtS: )
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes      Disease genes      CMAHP gene at Home site.
Version: 3.12.212 17 Sep 2014
hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4