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. Diseases associated with ASAH2B include Corneal Dystrophy, Posterior Amorphous and Alzheimer Disease. 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
- 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:
-
- Tal-1beta
- E47
- Max
- c-Myc
- AML1a
- POU6F1 (c2)
- Tal-1
- Pbx1a
- Sox9
Regulatory Element Products
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 Entrez Gene
- 10q11.23 by HGNC
- 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.
Post-translational modifications for ASAH2B Gene
Other Protein References for ASAH2B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Search GeneTex for Antibodies for ASAH2B
Protein Products
-
OriGene Purified Proteins for ASAH2B
- Search Origene for MassSpec and Protein Over-expression Lysates for ASAH2B
- Origene Custom Protein Services for ASAH2B
- Search GeneTex for Proteins for ASAH2B
Assay Products
No data available for DME Specific Peptides for ASAH2B Gene
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:
Graphical View of Domain Structure for InterPro Entry
P0C7U1- Family:
-
- Belongs to the neutral ceramidase family.
Function 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 | -- |
Phenotypes for ASAH2B Gene
- GenomeRNAi human phenotypes for ASAH2B:
Animal Model Products
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-
CRISPR Products
-
OriGene CRISPR knockouts for ASAH2B
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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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
- Sino Biological Human cDNA Clone for ASAH2B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ASAH2B
- genomics-online: cdna clones - Search results for available ASAH2B gene related products
- orf clones - Search results for available ASAH2B gene related products
- Applied Biological Materials Clones for ASAH2B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for ASAH2B
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASAH2B Gene
Localization for ASAH2B Gene
| Compartment | Confidence |
|---|---|
| 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 | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for ASAH2B Gene
Pathways & Interactions for ASAH2B Gene
No Data Available
Interacting Proteins for ASAH2B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0042759 | long-chain fatty acid biosynthetic process | IBA | -- |
| GO:0046512 | sphingosine biosynthetic process | IBA | -- |
| GO:0046514 | ceramide catabolic process | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for ASAH2B Gene
Drugs & Compounds for ASAH2B 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)) |
|
|
(1) Tocris Compounds for ASAH2B Gene
| Compound | Action | Cas Number |
|---|---|---|
| Ceranib 1 | Ceramidase inhibitor; antiproliferative | 328076-61-5 |
Drug Products
Transcripts for ASAH2B Gene
mRNA/cDNA for ASAH2B Gene
- (5) REFSEQ mRNAs :
- (1) Additional mRNA sequences :
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000374007 3715 bps (uc057tgs.1)
- ENST00000647317 5482 bps
- ENST00000645350 5180 bps
- ENST00000643851 5005 bps
- ENST00000643505 5199 bps
Unigene Clusters for ASAH2B Gene
CRISPR Products
-
OriGene CRISPR knockouts for ASAH2B
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- Applied Biological Materials CRISPR for ASAH2B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASAH2B
- GenScript: Design CRISPR guide RNA sequences for ASAH2B
miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for available ASAH2B gene related products
Clone Products
- 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
- Applied Biological Materials Clones for ASAH2B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 | -- 34 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Asah2 34 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | -- 34 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| zebrafish (Danio rerio) |
Actinopterygii | asah2 34 |
|
OneToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | CDase 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| corneal dystrophy, posterior amorphous |
|
|
| alzheimer disease |
|
|
Search ASAH2B in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ASAH2B
No data available for 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
- 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
- Normalization and subtraction: two approaches to facilitate gene discovery. (PMID: 8889548) Bonaldo MF … Soares MB (Genome research 1996) 3 58
Products for ASAH2B Gene
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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) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (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) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
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- (96) Addgene
- (97) antibodies-online
- (98) CYP
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- (100) SwitchGear Genomics
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- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
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- (107) ProteomicsDB
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- (133) ENCODE
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- (145) dbSUPER
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- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
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- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt