Aliases for ASAH2B Gene
Aliases for ASAH2B Gene
External Ids for ASAH2B Gene
- HGNC: 23456
- Entrez Gene: 653308
- Ensembl: ENSG00000204147
- UniProtKB: P0C7U1
Previous HGNC Symbols for ASAH2B Gene
- ASAH2C
Previous GeneCards Identifiers for ASAH2B Gene
- GC00U914492
- GC10U900594
- GC10P052169
- GC10P052499
- GC10P046471
Summaries for ASAH2B Gene
GeneCards Summary for ASAH2B Gene
ASAH2B (N-Acylsphingosine Amidohydrolase 2B) is a Protein Coding gene. An important paralog of this gene is ASAH2.
Additional gene information for ASAH2B Gene
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASAH2B Gene
Genomics for ASAH2B Gene
GeneHancer (GH) Regulatory Elements for ASAH2B Gene
Promoters and enhancers for ASAH2B 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH10J050739 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 626.8 | +0.7 | 683 | 2.8 | ZFX CC2D1A NKRF POLR2A MLLT1 GTF2F1 CSDE1 ZSCAN21 CDC5L YY1 | ASAH2B GC10M050738 PRKG1 ASAH2 ENSG00000229711 | |
| GH10J050882 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 11.9 | +145.3 | 145302 | 4.1 | ZNF652 ELF3 CEBPG RERE TFE3 SP1 HNF1A PPARG ZNF644 KAT8 | A1CF SGMS1 ASAH2 ASAH2B ENSG00000229711 | |
| GH10J050807 | Enhancer | 0.7 | Ensembl | 29.7 | +68.8 | 68783 | 0.6 | RXRA GATAD2A JUND FOXA2 ZBTB33 GABPA MIER3 KDM6A RAD21 ZGPAT | ASAH2B A1CF ENSG00000229711 GC10M050738 | |
| GH10J050659 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 6.8 | -79.5 | -79517 | 1.6 | CC2D1A ELF3 NKRF GTF2F1 ZNF687 CDC5L TRIM24 POLR2A MLLT1 RAD21 | PIR61306 PIR41880 SGMS1 BEND3P1 ASAH2B SGMS1-AS1 | |
| GH10J050805 | Enhancer | 0.3 | Ensembl | 31 | +66.7 | 66683 | 1.2 | ZNF217 | ASAH2B ASAH2 ENSG00000229711 GC10M050738 A1CF |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ASAH2B on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ASAH2B gene promoter:
-
- AML1a
- c-Myc
- E47
- Max
- Pbx1a
- POU6F1 (c2)
- Sox9
- Tal-1
- Tal-1beta
Genomic Locations for ASAH2B Gene
Genomic Locations for ASAH2B Gene
- chr10:50,739,318-50,816,495
- (GRCh38/hg38)
- Size:
- 77,178 bases
- Orientation:
- Plus strand
- chr10:52,499,078-52,576,255
- (GRCh37/hg19)
- Size:
- 77,178 bases
- Orientation:
- Plus strand
Genomic View for ASAH2B Gene
Genes around ASAH2B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q11.23 by HGNC
- 10q11.23 by Entrez Gene
- 10q11.23 by Ensembl
ASAH2B 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 ASAH2B Gene
Proteins for ASAH2B Gene
-
Protein details for ASAH2B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P0C7U1-ASA2B_HUMAN
- Recommended name:
- Putative inactive neutral ceramidase B
- Protein Accession:
- P0C7U1
- B7Z261
Protein attributes for ASAH2B Gene
- Size:
- 165 amino acids
- Molecular mass:
- 19025 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- ASAH2B/ASAH2L is a partial paralog of ASAH2, resulting from a partial duplication of ASAH2 on chromosome 10. It has a polymorphic start codon with a single nucleotide change of the original ASAH2 sequence plus other putative translation start site that might lead to several potential ORFs.
Selected DME Specific Peptides for ASAH2B Gene
- P0C7U1:
-
- WHIPDTA
- NDASWETRF
Post-translational modifications for ASAH2B Gene
Other Protein References for ASAH2B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
Protein Products
-
OriGene Purified Proteins for ASAH2B
- Search Origene for MassSpec and Protein Over-expression Lysates for ASAH2B
- Origene Custom Protein Services for ASAH2B
Domains & Families for ASAH2B Gene
Gene Families for ASAH2B Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ASAH2B Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ASAH2B Gene
- GenScript: Design optimal peptide antigens:
-
- Putative inactive non-lysosomal ceramidase B (ASA2B_HUMAN)
- Non-lysosomal ceramidase C (ASA2C_HUMAN)
- cDNA FLJ52679, highly similar to Neutral ceramidase (EC 3.5.1.23) (B7Z261_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P0C7U1- Family:
-
- Belongs to the neutral ceramidase family.
Function for ASAH2B Gene
Enzyme Numbers (IUBMB) for ASAH2B Gene
Phenotypes From GWAS Catalog for ASAH2B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0017040 | N-acylsphingosine amidohydrolase activity | IBA | 21873635 |
Phenotypes for ASAH2B Gene
- GenomeRNAi human phenotypes for ASAH2B:
Animal Model Products
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- Cyagen custom Knockout/knockin (KOKI) mouse models for ASAH2B
-
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASAH2B - Now 50% OFF >
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-
OriGene CRISPR knockouts for ASAH2B
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ASAH2B
miRNA for ASAH2B Gene
- miRTarBase miRNAs that target ASAH2B
-
- hsa-mir-6887-3p (MIRT606994)
- hsa-mir-362-3p (MIRT606995)
- hsa-mir-329-3p (MIRT606996)
- hsa-mir-8485 (MIRT606997)
- hsa-mir-3941 (MIRT608847)
- hsa-mir-603 (MIRT608848)
- hsa-mir-6873-3p (MIRT610429)
- hsa-mir-6817-3p (MIRT610430)
- hsa-mir-7110-3p (MIRT610431)
- hsa-mir-6769b-3p (MIRT610432)
- hsa-mir-4723-3p (MIRT610433)
- hsa-mir-3183 (MIRT610434)
- hsa-mir-6800-3p (MIRT610435)
- hsa-mir-342-3p (MIRT616521)
- hsa-mir-374b-3p (MIRT618836)
- hsa-mir-4524b-5p (MIRT618837)
- hsa-mir-4524a-5p (MIRT618838)
- hsa-mir-4519 (MIRT618839)
- hsa-mir-4274 (MIRT618840)
- hsa-mir-4298 (MIRT625844)
- hsa-mir-1302 (MIRT625845)
- hsa-mir-6871-5p (MIRT625846)
miRNA Products
Inhibitory RNA Products
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Clone Products
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- Sino Biological Human cDNA Clone for ASAH2B
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- genomics-online: cdna clones - Search results for available ASAH2B gene related products
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Cell Line Products
-
Horizon Cell Lines for ASAH2B
No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASAH2B Gene
Localization for ASAH2B Gene
| Compartment | Confidence |
|---|---|
| extracellular | 3 |
| mitochondrion | 2 |
| peroxisome | 1 |
| nucleus | 1 |
| cytosol | 1 |
- Focal adhesion sites (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IBA | 21873635 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for ASAH2B Gene
Pathways & Interactions for ASAH2B Gene
Interacting Proteins for ASAH2B Gene
GPS-Prot Interaction Network for ASAH2B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0042759 | long-chain fatty acid biosynthetic process | IBA | 21873635 |
| GO:0046512 | sphingosine biosynthetic process | IBA | 21873635 |
| GO:0046514 | ceramide catabolic process | IBA | 21873635 |
No data available for Pathways by source and SIGNOR curated interactions for ASAH2B Gene
Drugs & Compounds for ASAH2B Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Palmitic Acid | Approved | Pharma | Full agonist, Agonist | 25 | ||
| Stearic acid | Approved, Experimental | Pharma | 0 | |||
| Water | Approved | Pharma | 0 | |||
| arachidonic acid | Experimental | Pharma | Activator, Agonist, Inhibitor, Activation, Potentiation | 37 | ||
| Myristic acid | Experimental | Pharma | 0 |
| 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)) |
|
|
(1) Tocris Compounds for ASAH2B Gene
| Compound | Action | Cas Number |
|---|---|---|
| Ceranib 1 | Ceramidase inhibitor; antiproliferative | 328076-61-5 |
(1) ApexBio Compounds for ASAH2B Gene
| Compound | Action | Cas Number |
|---|---|---|
| Ceranib 1 | 328076-61-5 |
Transcripts for ASAH2B Gene
mRNA/cDNA for ASAH2B Gene
- (5) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000374006 632 bps (ENST00000374006.1)
- ENST00000374007 3715 bps (ENST00000374007.5)
- ENST00000483649 871 bps (ENST00000483649.1)
- ENST00000643505 5199 bps (ENST00000643505.1)
- ENST00000643851 5005 bps (ENST00000643851.1)
Unigene Clusters for ASAH2B Gene
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASAH2B - Now 50% OFF >
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-
OriGene CRISPR knockouts for ASAH2B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ASAH2B
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-
Santa Cruz Biotechnology (SCBT) CRISPR for ASAH2B
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for ASAH2B
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Clone Products
- Applied Biological Materials (abm): Clones for ASAH2B - Now 50% OFF >
- * ASAH2B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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- Sino Biological Human cDNA Clone for ASAH2B
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- genomics-online: cdna clones - Search results for available ASAH2B gene related products
- orf clones - Search results for available ASAH2B gene related products
Expression for ASAH2B Gene
NURSA nuclear receptor signaling pathways regulating expression of ASAH2B Gene:
ASAH2BSOURCE GeneReport for Unigene cluster for ASAH2B Gene:
Hs.710005mRNA Expression by UniProt/SwissProt for ASAH2B Gene:
P0C7U1-ASA2B_HUMAN
Tissue specificity:
Ubiquitous. Expression is reduced with increasing age and in late-onset Alzheimer disease (LOAD) patients. This reduction is even more pronounced in patients with an affected mother.
Evidence on tissue expression from TISSUES for ASAH2B Gene
- Intestine(2.2)
Primer Products
-
OriGene qPCR primer pairs for ASAH2B
- genomics-online: primer clones - Search results for available ASAH2B gene related products
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 , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASAH2B Gene
Orthologs for ASAH2B Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | -- 35 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Asah2 35 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | -- 35 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | -- 35 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | asah2 35 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | CDase 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| -- 35 |
|
ManyToMany |
- Species where no ortholog for ASAH2B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chimpanzee (Pan troglodytes)
- 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)
- rat (Rattus norvegicus)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for ASAH2B Gene
- ENSEMBL:
- Gene Tree for ASAH2B (if available)
- TreeFam:
- Gene Tree for ASAH2B (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ASAH2B: view image
Paralogs for ASAH2B Gene
Variants for ASAH2B Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000184813 | -- | 50,755,517(+) | C/T | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1000319728 | -- | 50,756,137(+) | A/G | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs1000522369 | -- | 50,749,656(+) | T/G | intron_variant | |
| rs1000654967 | -- | 50,750,034(+) | A/C | intron_variant | |
| rs1001489951 | -- | 50,738,205(+) | G/C | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3623214 | CNV | loss | 21293372 |
| nsv1035197 | CNV | gain | 25217958 |
| nsv1069484 | CNV | deletion | 25765185 |
| nsv948007 | CNV | duplication | 23825009 |
| nsv948008 | CNV | duplication | 23825009 |
Gene Damage Index Score:
4.12;
61.27% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ASAH2B Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ASAH2B
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASAH2B Gene
Disorders for ASAH2B Gene
Additional Disease Information for ASAH2B
No disorders were found for ASAH2B Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASAH2B Gene
Publications for ASAH2B Gene
- A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease. (PMID: 17334805) Avramopoulos D … Bassett SS (Neurogenetics 2007) 2 3 4 58
- Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 58
- Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R … Stanton LW (Nature biotechnology 2004) 3 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
- The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 4 58
ExternalLinks
Products for ASAH2B Gene
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- antibodies-online: Search results for available ASAH2B related products ranked by validation data
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Sources for ASAH2B Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) 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) UniGene
- (28) AceView
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) HGMD
- (45) GAD
- (46) BGMUT
- (47) HuGE
- (48) Atlas
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) OCA
- (69) Proteopedia
- (70) MOPED
- (71) neXtProt
- (72) Reactome
- (73) GeneGo (Thomson Reuters)
- (74) fRNAdb
- (75) DISEASES
- (76) SIMAP
- (77) GenomeRNAi
- (78) LifeMap
- (79) miRTarBase
- (80) MalaCards
- (81) Invitrogen
- (82) BitterDB
- (83) ESI-BIO
- (84) RefSeq
- (85) BioSystems
- (86) MaxQB
- (87) IUPHAR
- (88) BioGPS
- (89) Illumina
- (90) COMPARTMENTS
- (91) HOMER
- (92) PaxDb
- (93) ApexBio
- (94) Addgene
- (95) antibodies-online
- (96) CYP
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