Aliases for ACER2 Gene
Aliases for ACER2 Gene
External Ids for ACER2 Gene
- HGNC: 23675
- Entrez Gene: 340485
- Ensembl: ENSG00000177076
- OMIM: 613492
- UniProtKB: Q5QJU3
Previous HGNC Symbols for ACER2 Gene
- ASAH3L
Previous GeneCards Identifiers for ACER2 Gene
- GC09P019400
Summaries for ACER2 Gene
-
The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006 [PubMed 16940153]).[supplied by OMIM, Jul 2010]
GeneCards Summary for ACER2 Gene
ACER2 (Alkaline Ceramidase 2) is a Protein Coding gene. Diseases associated with ACER2 include Corneal Dystrophy, Posterior Amorphous. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides and dihydroceramidase activity. An important paralog of this gene is ACER1.
UniProtKB/Swiss-Prot for ACER2 Gene
-
Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine. Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACER2 Gene
Genomics for ACER2 Gene
GeneHancer (GH) Regulatory Elements for ACER2 Gene
Promoters and enhancers for ACER2 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH09J019407 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 650.7 | +3.1 | 3090 | 2.8 | HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 SP3 SP5 | ACER2 ENSG00000273226 PIR51132 | |
| GH09J019403 | Enhancer | 0.6 | ENCODE | 650.7 | -1.3 | -1300 | 2.8 | SMARCE1 CTCF PKNOX1 HLF DPF2 FOXA1 ZNF217 CTBP1 GATA3 KDM1A | ACER2 GC09P019404 ENSG00000273226 | |
| GH09J019123 | Promoter/Enhancer | 2.5 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 3.3 | -278.6 | -278604 | 6.9 | HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 YBX1 | PLIN2 HAUS6 ACER2 GC09M019109 | |
| GH09J019158 | Enhancer | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 2.8 | -244.4 | -244379 | 5.6 | PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS | DENND4C SCARNA8 PLIN2 ACER2 RPS6P10 | |
| GH09J019451 | Enhancer | 0.7 | ENCODE | 5.7 | +45.7 | 45714 | 1 | BACH1 EBF1 BMI1 BATF KLF5 IRF4 RELA EED ATF7 BCLAF1 | ENSG00000260912 HAUS6 ACER2 PIR51132 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around ACER2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ACER2 gene promoter:
-
- AP-1
- GATA-3
- GATA-2
- GATA-1
- USF1
- USF-1
- FOXJ2
- FOXJ2 (long isoform)
- LCR-F1
- Elk-1
Regulatory Element Products
Genomic Locations for ACER2 Gene
Genomic Locations for ACER2 Gene
- chr9:19,406,011-19,452,505
- (GRCh38/hg38)
- Size:
- 46,495 bases
- Orientation:
- Plus strand
- chr9:19,408,925-19,452,500
- (GRCh37/hg19)
- Size:
- 43,576 bases
- Orientation:
- Plus strand
Genomic View for ACER2 Gene
Genes around ACER2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9p22.1 by Entrez Gene
- 9p22.1 by HGNC
- 9p22.1 by Ensembl
ACER2 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 ACER2 Gene
Proteins for ACER2 Gene
-
Protein details for ACER2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5QJU3-ACER2_HUMAN
- Recommended name:
- Alkaline ceramidase 2
- Protein Accession:
- Q5QJU3
- A2A3R8
- Q569G5
- Q5VZR7
- Q71RD2
Protein attributes for ACER2 Gene
- Size:
- 275 amino acids
- Molecular mass:
- 31309 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for ACER2 Gene
- Glycosylation at posLast=2323
Other Protein References for ACER2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ACER2
- Invitrogen Antibodies for ACER2 (AFLGC-ACER2)
- GeneTex ACER2 Antibody for ACER2
-
Boster Bio Antibodies for ACER2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ACER2
- Origene Custom Protein Services for ACER2
- Novus Biologicals proteins for ACER2
- Search GeneTex for Proteins for ACER2
-
Abcam proteins for ACER2
Assay Products
No data available for DME Specific Peptides for ACER2 Gene
Domains & Families for ACER2 Gene
Gene Families for ACER2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted membrane proteins
Protein Domains for ACER2 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACER2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q5QJU3- Family:
-
- Belongs to the alkaline ceramidase family.
Function for ACER2 Gene
Molecular function for ACER2 Gene
- UniProtKB/Swiss-Prot Function:
- Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Unsaturated long-chain ceramides are the best substrates, saturated long-chain ceramides and unsaturated very long-chain ceramides are good substrates, whereas saturated very long-chain ceramides and short-chain ceramides were poor substrates. The substrate preference is D-erythro-C(18:1)-, C(20:1)-, C(20:4)-ceramide > D-erythro-C(16:0)-, C(18:0), C(20:0)-ceramide > D-erythro-C(24:1)-ceramide > D-erythro-C(12:0)-ceramide, D-erythro-C(14:0)-ceramides > D-erythro-C(24:0)-ceramide > D-erythro-C(6:0)-ceramide. Inhibits the maturation of protein glycosylation in the Golgi complex, including that of integrin beta-1 (ITGB1) and of LAMP1, by increasing the levels of sphingosine. Inhibits cell adhesion by reducing the level of ITGB1 in the cell surface. May have a role in cell proliferation and apoptosis that seems to depend on the balance between sphingosine and sphingosine-1-phosphate.
- UniProtKB/Swiss-Prot CatalyticActivity:
- N-acylsphingosine + H(2)O = a carboxylate + sphingosine.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Specifically activated by lumenal, but not cytosolic Ca(2+). Inhibited by Zn(2+) or Cu(2+). Mg(2+) or Mn(2+) have no effect on ceramidase activity.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=81 uM for D-erythro-C(24:1)-ceramide (at 37 degrees Celsius and pH 9.0) {ECO:0000269 PubMed:20089856}; Vmax=27 pmol/min/mg enzyme with D-erythro-C(24:1)-ceramide as substrate {ECO:0000269 PubMed:20089856}; pH dependence: Optimum pH is 7.5-9.0. {ECO:0000269 PubMed:20089856};
Enzyme Numbers (IUBMB) for ACER2 Gene
Phenotypes From GWAS Catalog for ACER2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0016811 | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | IEA | -- |
| GO:0017040 | N-acylsphingosine amidohydrolase activity | TAS | -- |
| GO:0071633 | dihydroceramidase activity | IDA | 20628055 |
| GO:0102121 | ceramidase activity | IEA | -- |
Phenotypes for ACER2 Gene
- MGI mutant phenotypes for ACER2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ACER2:
Animal Model Products
-
Taconic Biosciences Mouse Models for ACER2
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACER2
-
CRISPR Products
-
OriGene CRISPR knockouts for ACER2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACER2
- genomics-online: gRNA clones - Search results for 100 available ACER2 gene related products
- Overview of 100 available ACER2 gene related products
- Applied Biological Materials CRISPR for ACER2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACER2
- GenScript: Design CRISPR guide RNA sequences for ACER2
miRNA for ACER2 Gene
- miRTarBase miRNAs that target ACER2
-
- hsa-let-7a-5p (MIRT324727)
- hsa-let-7b-5p (MIRT324728)
- hsa-let-7c-5p (MIRT324729)
- hsa-let-7d-5p (MIRT324730)
- hsa-let-7e-5p (MIRT324731)
- hsa-let-7f-5p (MIRT324732)
- hsa-mir-98-5p (MIRT324733)
- hsa-mir-196a-5p (MIRT324734)
- hsa-let-7g-5p (MIRT324735)
- hsa-let-7i-5p (MIRT324736)
- hsa-mir-196b-5p (MIRT324737)
- hsa-mir-541-5p (MIRT324738)
- hsa-mir-4257 (MIRT324739)
- hsa-mir-4458 (MIRT324741)
- hsa-mir-4500 (MIRT324742)
- hsa-mir-122-5p (MIRT324745)
- hsa-mir-329-5p (MIRT324747)
- hsa-mir-504-3p (MIRT324748)
- hsa-mir-4280 (MIRT324749)
- hsa-mir-4464 (MIRT324750)
- hsa-mir-4748 (MIRT324753)
- hsa-mir-498 (MIRT503205)
- hsa-mir-505-3p (MIRT503206)
- hsa-mir-548v (MIRT503207)
- hsa-mir-4700-3p (MIRT503208)
- hsa-mir-513b-3p (MIRT503209)
- hsa-mir-7150 (MIRT503210)
- hsa-mir-4512 (MIRT503211)
- hsa-mir-106b-5p (MIRT503212)
- hsa-mir-20a-5p (MIRT503213)
- hsa-mir-20b-5p (MIRT503214)
- hsa-mir-106a-5p (MIRT503215)
- hsa-mir-17-5p (MIRT503216)
- hsa-mir-519d-3p (MIRT503217)
- hsa-mir-526b-3p (MIRT503218)
- hsa-mir-93-5p (MIRT503219)
- hsa-mir-182-5p (MIRT503220)
- hsa-mir-96-5p (MIRT503221)
- hsa-mir-1271-5p (MIRT503222)
- hsa-mir-27b-3p (MIRT503223)
- hsa-mir-27a-3p (MIRT503224)
- hsa-mir-140-3p (MIRT503225)
- hsa-mir-1244 (MIRT503226)
- hsa-mir-3613-3p (MIRT639521)
- hsa-mir-27a-5p (MIRT639522)
- hsa-mir-4668-5p (MIRT639523)
- hsa-mir-199a-3p (MIRT763621)
- hsa-mir-199b-3p (MIRT763632)
- hsa-mir-215-3p (MIRT763836)
- hsa-mir-222-5p (MIRT763946)
- hsa-mir-3120-5p (MIRT764783)
- hsa-mir-3129-5p (MIRT764866)
- hsa-mir-5007-5p (MIRT772946)
- hsa-mir-6753-3p (MIRT778365)
- hsa-mir-6773-3p (MIRT778704)
- hsa-mir-6777-3p (MIRT778780)
- hsa-mir-6888-3p (MIRT781077)
- hsa-mir-7107-3p (MIRT781410)
- hsa-mir-936 (MIRT782766)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACER2
- Browse OriGene Inhibitory RNA Products For ACER2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACER2
- genomics-online: shRNA clones - Search results for 100 available ACER2 gene related products
- Overview of 100 available ACER2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ACER2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACER2
- Applied Biological Materials Clones for ACER2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ACER2
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ACER2 Gene
Localization for ACER2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ACER2 Gene
- Golgi apparatus membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 3 |
| lysosome | 2 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IDA,IEA | 16940153 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030173 | integral component of Golgi membrane | IDA | 20089856 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACER2 Gene
Pathways & Interactions for ACER2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.37
|
|
| 2 | Sphingolipid metabolism | ||
| 3 | Sphingolipid signaling pathway | ||
| 4 | sphingosine and sphingosine-1-phosphate metabolism | ||
Pathways by source for ACER2 Gene
1 BioSystems pathway for ACER2 Gene
4 Reactome pathways for ACER2 Gene
3 KEGG pathways for ACER2 Gene
Interacting Proteins for ACER2 Gene
GPS-Prot Interaction Network for ACER2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001953 | negative regulation of cell-matrix adhesion | IDA | 18945876 |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006672 | ceramide metabolic process | IEA | -- |
| GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | IMP | 20628055 |
| GO:0008284 | positive regulation of cell proliferation | IDA | 16940153 |
No data available for SIGNOR curated interactions for ACER2 Gene
Drugs & Compounds for ACER2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
|
|
Drug Products
Transcripts for ACER2 Gene
mRNA/cDNA for ACER2 Gene
- (5) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (14) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000340967 2238 bps (uc003zny.2)
CRISPR Products
-
OriGene CRISPR knockouts for ACER2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ACER2
- genomics-online: gRNA clones - Search results for 100 available ACER2 gene related products
- Overview of 100 available ACER2 gene related products
- Applied Biological Materials CRISPR for ACER2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACER2
- GenScript: Design CRISPR guide RNA sequences for ACER2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ACER2
- Browse OriGene Inhibitory RNA Products For ACER2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACER2
- genomics-online: shRNA clones - Search results for 100 available ACER2 gene related products
- Overview of 100 available ACER2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ACER2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ACER2
- Applied Biological Materials Clones for ACER2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||
| SP2: | - |
Expression for ACER2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Heart (Cardiovascular System)
mRNA differential expression in normal tissues according to GTEx for ACER2 Gene
This gene is overexpressed in Bladder (x12.1).
NURSA nuclear receptor signaling pathways regulating expression of ACER2 Gene:
ACER2SOURCE GeneReport for Unigene cluster for ACER2 Gene:
Hs.41379mRNA Expression by UniProt/SwissProt for ACER2 Gene:
Q5QJU3-ACER2_HUMAN
Tissue specificity:
Highly expressed in placenta.
Primer Products
-
OriGene qPCR primer pairs for ACER2
Gene Expression Assay Products
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACER2 Gene
Orthologs for ACER2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ACER2 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ACER2 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ACER2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ACER2 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Acer2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Acer2 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ACER2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ACER2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ACER2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | acer2 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.10989 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ACER2 34 |
|
OneToOne | |
| LOC100331179 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | bwa 34 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008729 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_W02F12.2 33 |
|
||
| W02F12.2 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for ACER2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- 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)
Evolution for ACER2 Gene
- ENSEMBL:
- Gene Tree for ACER2 (if available)
- TreeFam:
- Gene Tree for ACER2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ACER2: view image
Paralogs for ACER2 Gene
(1) SIMAP similar genes for ACER2 Gene using alignment to 1 proteins:
- ACER2_HUMAN
Pseudogenes.org Pseudogenes for ACER2 Gene
Variants for ACER2 Gene
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000032694 | -- | 19,418,908(+) | C/T | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000040527 | -- | 19,430,500(+) | C/G | intron_variant | |
| rs1000059743 | -- | 19,424,616(+) | G/A | intron_variant | |
| rs1000063179 | -- | 19,423,053(+) | T/A | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1000094488 | -- | 19,437,205(+) | G/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv7470n100 | CNV | gain | 25217958 |
| esv1361979 | CNV | deletion | 17803354 |
| esv2738260 | CNV | deletion | 23290073 |
| esv3544635 | CNV | deletion | 23714750 |
| esv3619907 | CNV | gain | 21293372 |
| esv3619911 | CNV | gain | 21293372 |
| esv3619913 | CNV | gain | 21293372 |
| esv3619914 | CNV | loss | 21293372 |
| nsv1025392 | CNV | gain | 25217958 |
| nsv416048 | CNV | deletion | 16902084 |
| nsv466286 | CNV | gain | 19166990 |
| nsv524474 | CNV | gain | 19592680 |
| nsv613730 | CNV | gain | 21841781 |
| nsv613731 | CNV | loss | 21841781 |
| nsv613732 | CNV | gain | 21841781 |
| nsv613733 | CNV | gain | 21841781 |
| nsv831524 | CNV | gain+loss | 17160897 |
Residual Variation Intolerance Score:
49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.59;
56.28% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ACER2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ACER2
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACER2 Gene
Disorders for ACER2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| corneal dystrophy, posterior amorphous |
|
|
Search ACER2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ACER2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for ACER2 Gene
Publications for ACER2 Gene
- Alkaline ceramidase 2 regulates beta1 integrin maturation and cell adhesion. (PMID: 18945876) Sun W … Mao C (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 2 3 4 22 58
- Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2). (PMID: 20089856) Sun W … Mao C (The Journal of biological chemistry 2010) 3 4 22 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
- Golgi alkaline ceramidase regulates cell proliferation and survival by controlling levels of sphingosine and S1P. (PMID: 16940153) Xu R … Mao C (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2006) 3 4 58
- DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
Products for ACER2 Gene
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- antibodies-online: Search results for 11 available ACER2 Antibodies ranked by validation data
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- antibodies-online: Search results for 3 available ACER2 Proteins ranked by validation data
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- GeneTex ACER2 Antibody for ACER2
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- Horizon Cell Lines for ACER2
- genomics-online: cdna clones - Search results for 100 available ACER2 gene related products
- Overview of 100 available ACER2 gene related products
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- genomics-online: gRNA clones - Search results for 100 available ACER2 gene related products
- Overview of 100 available ACER2 gene related products
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- Overview of 100 available ACER2 gene related products
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- Overview of 100 available ACER2 gene related products
- Browse GeneCopoeia Cell Lines
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- Boster Bio Antibodies for ACER2
- Browse Boster Bio ELISA Kits
Sources for ACER2 Gene
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