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Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been... See more...
Aliases for ALDH3A2 Gene
Aliases for ALDH3A2 Gene
External Ids for ALDH3A2 Gene
- HGNC: 403
- Entrez Gene: 224
- Ensembl: ENSG00000072210
- OMIM: 609523
- UniProtKB: P51648
Previous HGNC Symbols for ALDH3A2 Gene
- SLS
- ALDH10
Previous GeneCards Identifiers for ALDH3A2 Gene
- GC17P019722
- GC17P021188
- GC17P019455
- GC17P019714
- GC17P019492
- GC17P019551
- GC17P018931
Summaries for ALDH3A2 Gene
-
Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for ALDH3A2 Gene
ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2) is a Protein Coding gene. Diseases associated with ALDH3A2 include Sjogren-Larsson Syndrome and Spastic Diplegia. Among its related pathways are Glucose metabolism and beta-Alanine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH3A1.
UniProtKB/Swiss-Prot Summary for ALDH3A2 Gene
-
Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030, PubMed:18035827, PubMed:9662422, PubMed:18182499). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).
Additional gene information for ALDH3A2 Gene
- HGNC(403)
- Entrez Gene(224)
- Ensembl(ENSG00000072210)
- OMIM(609523)
- UniProtKB(P51648)
- Open Targets Platform(ENSG00000072210)
- Monarch Initiative
- Search for ALDH3A2 at DataMed
- Search for ALDH3A2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH3A2 Gene
Genomics for ALDH3A2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ALDH3A2 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 ALDH3A2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH3A2
- Top Transcription factor binding sites by QIAGEN in the ALDH3A2 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- C/EBPalpha
- IRF-1
Genomic Locations for ALDH3A2 Gene
Genomic Locations for ALDH3A2 Gene
- chr17:19,648,136-19,685,760
- (GRCh38/hg38)
- Size:
- 37,625 bases
- Orientation:
- Plus strand
- chr17:19,551,449-19,580,911
- (GRCh37/hg19)
- Size:
- 29,463 bases
- Orientation:
- Plus strand
Genomic View for ALDH3A2 Gene
Genes around ALDH3A2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17p11.2 by HGNC
- 17p11.2 by Entrez Gene
- 17p11.2 by Ensembl
ALDH3A2 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 ALDH3A2 Gene
Proteins for ALDH3A2 Gene
-
Protein details for ALDH3A2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P51648-AL3A2_HUMAN
- Recommended name:
- Aldehyde dehydrogenase family 3 member A2
- Protein Accession:
- P51648
- Q6I9T3
- Q93011
- Q96J37
Protein attributes for ALDH3A2 Gene
- Size:
- 485 amino acids
- Molecular mass:
- 54848 Da
- Quaternary structure:
-
- Homodimer.
Protein Expression for ALDH3A2 Gene
Selected DME Specific Peptides for ALDH3A2 Gene
- P51648:
-
- LRFRLQQLEALRRMVQEREK
- IVMEAAAK
- VTLELGG
- SPDYERIINLRHFKR
- APDYILC
- ETTELLKQRFDHI
- IGAWNYP
- GMGAYHG
- TLELGGK
- CRRITWGKYMNCGQTCIAPDYILCEAS
- LGEIDFML
- FSHQRPCLLK
- LLPQYLDQDLY
- EKPLALY
- GQKIAFGGE
Post-translational modifications for ALDH3A2 Gene
Other Protein References for ALDH3A2 Gene
- ENSEMBL proteins:
-
- ENSP00000461916
- ENSP00000500380
- ENSP00000462964
- ENSP00000500517
- ENSP00000500092
- ENSP00000466814
- ENSP00000176643
- ENSP00000345774
- ENSP00000463637
- ENSP00000463128
- ENSP00000464153
- ENSP00000500516
- ENSP00000378942
- ENSP00000500740
- ENSP00000458397
- ENSP00000500777
- ENSP00000499877
- ENSP00000458942
- ENSP00000464453
- ENSP00000500558
- ENSP00000459977
- ENSP00000462933
- ENSP00000461235
- ENSP00000463924
- ENSP00000487353
- ENSP00000486283
- ENSP00000486085
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences ALDH3A2 Antibody
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- Creative Diagnostics Anti-ALDH3A2 monoclonal antibody, clone 3B8
- Novus Biologicals Antibodies for ALDH3A2
-
Abcam antibodies for ALDH3A2
- Invitrogen Antibodies for ALDH3A2 (AFLGC-ALDH3A2)
-
Custom Antibody ServicesProSci Antibodies for ALDH3A2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ALDH3A2
- Sino Biological Antibodies for ALDH3A2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ALDH3A2
- Origene Custom Protein Services for ALDH3A2
- antibodies-online: Show 9 available ALDH3A2 Proteins ranked by validation data
- Compare Top ALDH3A2 Proteins
-
Quality Products:
-
Signalway Proteins for ALDH3A2
-
Abcam proteins for ALDH3A2
Domains & Families for ALDH3A2 Gene
Gene Families for ALDH3A2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ALDH3A2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ALDH3A2 Gene
- GenScript: Design optimal peptide antigens:
-
- Microsomal aldehyde dehydrogenase (AL3A2_HUMAN)
- Aldehyde dehydrogenase (Q6I9T3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P51648- Family:
-
- Belongs to the aldehyde dehydrogenase family.
Function for ALDH3A2 Gene
Molecular function for ALDH3A2 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030, PubMed:18035827, PubMed:9662422, PubMed:18182499). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH; Xref=Rhea:RHEA:16185, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17478, ChEBI:CHEBI:29067, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.2.1.3; Evidence={ECO:0000269|PubMed:18035827, ECO:0000269|PubMed:18182499, ECO:0000269|PubMed:22633490, ECO:0000269|PubMed:25047030, ECO:0000269|PubMed:9133646, ECO:0000269|PubMed:9662422};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a fatty aldehyde + H2O + NAD(+) = a fatty acid + 2 H(+) + NADH; Xref=Rhea:RHEA:49832, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:35746, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:18035827, ECO:0000269|PubMed:22633490, ECO:0000269|PubMed:25047030, ECO:0000269|PubMed:9133646, ECO:0000269|PubMed:9662422};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(2E)-hexadecenal + H2O + NAD(+) = (E)-hexadec-2-enoate + 2 H(+) + NADH; Xref=Rhea:RHEA:36135, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17585, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:72745; Evidence={ECO:0000269|PubMed:22633490};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2 H(+) + hexadecanoate + NADH = H2O + hexadecanal + NAD(+); Xref=Rhea:RHEA:33739, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17600, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:18035827, ECO:0000269|PubMed:22633490};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=22-oxodocosanoate + H2O + NAD(+) = docosanedioate + 2 H(+) + NADH; Xref=Rhea:RHEA:39015, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:76298, ChEBI:CHEBI:76299; Evidence={ECO:0000269|PubMed:18182499};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=2,6,10,14-tetramethylpentadecanal + H2O + NAD(+) = 2,6,10,14-tetramethylpentadecanoate + 2 H(+) + NADH; Xref=Rhea:RHEA:44016, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:49189, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:77268; Evidence={ECO:0000269|PubMed:9662422};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + NAD(+) + octadecanal = 2 H(+) + NADH + octadecanoate; Xref=Rhea:RHEA:44020, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17034, ChEBI:CHEBI:25629, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:18035827, ECO:0000269|PubMed:9662422};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=dodecanoate + 2 H(+) + NADH = dodecanal + H2O + NAD(+); Xref=Rhea:RHEA:44168, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:18262, ChEBI:CHEBI:27836, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:18035827, ECO:0000269|PubMed:25047030};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=decanal + H2O + NAD(+) = decanoate + 2 H(+) + NADH; Xref=Rhea:RHEA:44104, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:27689, ChEBI:CHEBI:31457, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:18035827, ECO:0000269|PubMed:9133646};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + NAD(+) + tetradecanal = 2 H(+) + NADH + tetradecanoate; Xref=Rhea:RHEA:44172, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30807, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:84067; Evidence={ECO:0000269|PubMed:18035827, ECO:0000269|PubMed:9133646};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + NAD(+) + octanal = 2 H(+) + NADH + octanoate; Xref=Rhea:RHEA:44100, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17935, ChEBI:CHEBI:25646, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:18035827, ECO:0000269|PubMed:25047030, ECO:0000269|PubMed:9133646};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + heptanal + NAD(+) = 2 H(+) + heptanoate + NADH; Xref=Rhea:RHEA:44108, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32362, ChEBI:CHEBI:34787, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence={ECO:0000269|PubMed:18035827};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=(2E,6E)-farnesal + H2O + NAD(+) = (2E,6E)-farnesoate + 2 H(+) + NADH; Xref=Rhea:RHEA:24216, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15894, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:83276; EC=1.2.1.94; Evidence={ECO:0000269|PubMed:18035827};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=50 uM for hexanal {ECO:0000269|PubMed:9133646}; KM=32 uM for octanal {ECO:0000269|PubMed:9133646}; KM=23 uM for decanal {ECO:0000269|PubMed:9133646}; KM=3.8 uM for decanal {ECO:0000269|PubMed:18035827}; KM=19 uM for dodecanal {ECO:0000269|PubMed:9133646}; KM=13.6 uM for dodecanal {ECO:0000269|PubMed:18035827}; KM=23 uM for tetradecanal {ECO:0000269|PubMed:9133646}; KM=10.3 uM for tetradecanal {ECO:0000269|PubMed:18035827}; KM=8.3 uM for hexadecanal {ECO:0000269|PubMed:18035827}; KM=32 uM for hexadecanal {ECO:0000269|PubMed:9133646}; KM=21 uM for octadecanal {ECO:0000269|PubMed:9133646}; KM=20 uM for octadecanal {ECO:0000269|PubMed:18035827}; KM=23 uM for farnesal {ECO:0000269|PubMed:18035827}; KM=280 uM for NAD {ECO:0000269|PubMed:9133646}; KM=180 uM for NAD {ECO:0000269|PubMed:18035827}; KM=8700 uM for NADP {ECO:0000269|PubMed:9133646}; Vmax=29 umol/min/mg enzyme with hexanal {ECO:0000269|PubMed:9133646}; Vmax=63 umol/min/mg enzyme with octanal {ECO:0000269|PubMed:9133646}; Vmax=73 umol/min/mg enzyme with decanal {ECO:0000269|PubMed:9133646}; Vmax=2.3 umol/min/mg enzyme with decanal {ECO:0000269|PubMed:18035827}; Vmax=45 umol/min/mg enzyme with dodecanal {ECO:0000269|PubMed:9133646}; Vmax=2.3 umol/min/mg enzyme with dodecanal {ECO:0000269|PubMed:18035827}; Vmax=40 umol/min/mg enzyme with hexadecanal {ECO:0000269|PubMed:9133646}; Vmax=0.9 umol/min/mg enzyme with hexadecanal {ECO:0000269|PubMed:18035827}; Vmax=46 umol/min/mg enzyme with octadecanal {ECO:0000269|PubMed:9133646}; Vmax=1.6 umol/min/mg enzyme with octadecanal {ECO:0000269|PubMed:18035827}; Vmax=42 umol/min/mg enzyme with tetradecanal {ECO:0000269|PubMed:9133646}; Vmax=0.9 umol/min/mg enzyme with tetradecanal {ECO:0000269|PubMed:18035827}; Vmax=0.97 umol/min/mg enzyme with farnesal {ECO:0000269|PubMed:18035827}; Vmax=1.3 umol/min/mg enzyme with NAD {ECO:0000269|PubMed:18035827}; Note=Kcat is 2.18 sec(-1) for decanal as substrate. Kcat is 2.23 sec(-1) for dodecanal as substrate. Kcat is 0.86 sec(-1) for tetradecanal as substrate. Kcat is 0.95 sec(-1) for hexadecanal as substrate. Kcat is 1.52 sec(-1) for octadecanal as substrate. Kcat is 0.93 sec(-1) for farnesal as substrate. Kcat is 1.28 sec(-1) for NAD as substrate. {ECO:0000269|PubMed:18035827}; pH dependence: Optimum pH is 9.8. {ECO:0000269|PubMed:18035827, ECO:0000269|PubMed:9133646};
Enzyme Numbers (IUBMB) for ALDH3A2 Gene
Phenotypes From GWAS Catalog for ALDH3A2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004028 | 3-chloroallyl aldehyde dehydrogenase activity | IBA | 21873635 |
| GO:0004029 | aldehyde dehydrogenase (NAD) activity | IMP | 8528251 |
| GO:0005515 | protein binding | IPI | 25047030 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016620 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor | IEA | -- |
Phenotypes for ALDH3A2 Gene
- MGI mutant phenotypes for ALDH3A2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ALDH3A2:
Animal Models for ALDH3A2 Gene
Animal Model Products
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CRISPR Products
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miRNA for ALDH3A2 Gene
- miRTarBase miRNAs that target ALDH3A2
miRNA Products
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Clone Products
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- MG207744
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- MR207744L3V
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Cell Line Products
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Horizon Cell Lines for ALDH3A2
No data available for Transcription Factor Targets and HOMER Transcription for ALDH3A2 Gene
Localization for ALDH3A2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ALDH3A2 Gene
- Microsome membrane. Single-pass membrane protein. Endoplasmic reticulum membrane. Single-pass membrane protein. Cytoplasmic side.
| Compartment | Confidence |
|---|---|
| peroxisome | 5 |
| endoplasmic reticulum | 4 |
| cytosol | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005778 | peroxisomal membrane | TAS | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALDH3A2 Gene
Pathways & Interactions for ALDH3A2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Tryptophan metabolism | ||
| 3 | Peroxisomal lipid metabolism | ||
| 4 | Sphingolipid metabolism | ||
| 5 | Arginine and proline metabolism | ||
Pathways by source for ALDH3A2 Gene
1 BioSystems pathway for ALDH3A2 Gene
6 Reactome pathways for ALDH3A2 Gene
12 KEGG pathways for ALDH3A2 Gene
Interacting Proteins for ALDH3A2 Gene
GPS-Prot Interaction Network for ALDH3A2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001561 | fatty acid alpha-oxidation | TAS | -- |
| GO:0006081 | cellular aldehyde metabolic process | IEA,NAS | 8528251 |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
| GO:0007417 | central nervous system development | IMP | 8528251 |
No data available for SIGNOR curated interactions for ALDH3A2 Gene
Drugs & Compounds for ALDH3A2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| NADH | Approved | Nutra | Target | 0 | ||
| Ozanimod | Approved, Investigational | Pharma | Enzyme, substrate | 0 | ||
| acetic acid | Approved | Pharma | Agonist, Full agonist | 139 | ||
| gamma-Aminobutyric acid | Approved, Investigational | Pharma | 25 | |||
| Water | Approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (S)-Methylmalonic acid semialdehyde |
|
99043-16-0 |
|
|||
| 2,5-Dioxopentanoate |
|
|
||||
| 2-Propyn-1-al |
|
|
||||
| 3a,7a-Dihydroxy-5b-cholestan-26-al |
|
|
||||
| 3-Aminopropionaldehyde |
|
352-92-1 |
|
Transcripts for ALDH3A2 Gene
mRNA/cDNA for ALDH3A2 Gene
- 8 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 42 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000581518 3183 nts (view in UCSC)
- ENST00000673136 3367 nts (view in UCSC)
- ENST00000580550 540 nts (view in UCSC)
- ENST00000672465 2058 nts (view in UCSC)
- ENST00000467473 617 nts (view in UCSC)
CRISPR Products
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-
- MG207744
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- RC223398
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- MR207744L3V
- MR207744L4V
- RC200648L1V
- RC200648L2V
- RC200648L3V
- RC200648L4V
- RC223398L1V
- RC223398L2V
- RC223398L3V
- RC223398L4V
- RR201214L3V
- RR201214L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ALDH3A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDH3A2
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ |
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| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP11: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | · | 15d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||
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Relevant External Links for ALDH3A2 Gene
- GeneLoc Exon Structure for
- ALDH3A2
Expression for ALDH3A2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Intestine (Gastrointestinal Tract)
- Neural Crest (Gastrulation Derivatives)
-
Prostate (Endocrine System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for ALDH3A2 Gene
This gene is overexpressed in Adrenal Gland (x4.4).
This gene is overexpressed in Nasal epithelium (20.9) and Adrenal (10.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH3A2 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALDH3A2
SOURCE GeneReport for Unigene cluster for ALDH3A2 Gene:
Hs.499886mRNA Expression by UniProt/SwissProt for ALDH3A2 Gene:
P51648-AL3A2_HUMAN
Tissue specificity:
Detected in liver (at protein level).
Evidence on tissue expression from TISSUES for ALDH3A2 Gene
- Liver(4.7)
- Skin(4.6)
- Nervous system(4.4)
- Kidney(3)
- Eye(2.7)
- Adrenal gland(2.6)
- Intestine(2.5)
- Muscle(2.3)
- Stomach(2.3)
- Thyroid gland(2.3)
- Heart(2.2)
- Blood(2.1)
- Lung(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH3A2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- immune
- integumentary
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
- jaw
- mandible
- maxilla
- mouth
- skull
- tooth
Limb:
- nail
General:
- blood
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for ALDH3A2
-
OriGene qPCR primer pairs and template standards for ALDH3A2
Gene Expression Assay Products
Orthologs for ALDH3A2 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ALDH3A2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ALDH3A2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Aldh3a2 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ALDH3A2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Aldh3a2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ALDH3A2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ALDH3A2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ALDH3A2 30 31 |
|
OneToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aldh3a2 30 |
|
||
| Str.7466 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | aldh3a2b 31 |
|
ManyToMany | |
| LOC100000026 30 |
|
||||
| aldh3a2a 31 |
|
ManyToMany | |||
| aldh3a1 31 |
|
ManyToMany | |||
| Dr.5533 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Aldh-III 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | alh-5 30 31 |
|
ManyToMany | |
| alh-4 31 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HFD1 31 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ALDH3I1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6683 31 |
|
ManyToMany | |
| CSA.9635 31 |
|
ManyToMany |
- Species where no ortholog for ALDH3A2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- 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 Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ALDH3A2 Gene
- ENSEMBL:
- Gene Tree for ALDH3A2 (if available)
- TreeFam:
- Gene Tree for ALDH3A2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ALDH3A2: view image
Paralogs for ALDH3A2 Gene
Paralogs for ALDH3A2 Gene
(4) SIMAP similar genes for ALDH3A2 Gene using alignment to 13 proteins:
- AL3A2_HUMAN
- C9JGJ2_HUMAN
- I3L0X1_HUMAN
- I3L1M4_HUMAN
- I3L2W1_HUMAN
- I3L4G6_HUMAN
- J3KTD9_HUMAN
- J3KTG1_HUMAN
- J3QKK9_HUMAN
- J3QQV9_HUMAN
- J3QRD1_HUMAN
- J3QS00_HUMAN
- K7EN73_HUMAN
Variants for ALDH3A2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH3A2 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1636 | Pathogenic: Sjögren-Larsson syndrome | 19,656,414(+) | CT/C | FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 1637 | Pathogenic: Sjögren-Larsson syndrome | 19,661,135(+) | TG/T | FRAMESHIFT_VARIANT | |
| 1638 | Pathogenic: Sjögren-Larsson syndrome | 19,663,333(+) | CCC/GGGCTAAAAGTA | INFRAME_INDEL | |
| 1639 | Pathogenic: Sjögren-Larsson syndrome | 19,656,535(+) | G/A | MISSENSE_VARIANT | |
| 1644 | Pathogenic/Likely Pathogenic: Sjögren-Larsson syndrome; not provided | 19,664,997(+) | A/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2659432 | CNV | deletion | 23128226 |
| esv2758679 | CNV | loss | 17122850 |
| esv3554235 | CNV | deletion | 23714750 |
| esv3640179 | CNV | loss | 21293372 |
| esv3892981 | CNV | gain | 25118596 |
| esv4947 | CNV | loss | 18987735 |
| nsv1061317 | CNV | gain | 25217958 |
| nsv1061408 | CNV | gain | 25217958 |
| nsv1063892 | CNV | gain | 25217958 |
| nsv1071062 | CNV | deletion | 25765185 |
| nsv1138504 | CNV | deletion | 24896259 |
| nsv428337 | CNV | loss | 18775914 |
Residual Variation Intolerance Score:
31.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.97;
36.52% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ALDH3A2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH3A2 Gene
Disorders for ALDH3A2 Gene
(18) MalaCards diseases for ALDH3A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| sjogren-larsson syndrome |
|
|
| spastic diplegia |
|
|
| quadriplegia |
|
|
| ichthyosis |
|
|
| ichthyosis vulgaris |
|
Search ALDH3A2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AL3A2_HUMAN- Sjoegren-Larsson syndrome (SLS) [MIM:270200]: An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. {ECO:0000269 PubMed:10577908, ECO:0000269 PubMed:10792573, ECO:0000269 PubMed:8528251, ECO:0000269 PubMed:9254849, ECO:0000269 PubMed:9829906}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ALDH3A2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ALDH3A2 Gene
Publications for ALDH3A2 Gene
- Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome. (PMID: 18035827) Lloyd MD … Threadgill MD (Journal of enzyme inhibition and medicinal chemistry 2007) 3 4 23
- A novel point mutation of the FALDH gene in a Japanese family with Sjögren-Larsson syndrome. (PMID: 10792573) Aoki N … Ito M (The Journal of investigative dermatology 2000) 3 4 23
- The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene. (PMID: 10577908) Rizzo WB … Lin Z (American journal of human genetics 1999) 3 4 23
- Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. (PMID: 9829906) Sillén A … Wadelius C (Human mutation 1998) 3 4 23
- Genomic organization and expression of the human fatty aldehyde dehydrogenase gene (FALDH). (PMID: 9027499) Rogers GR … Compton JG (Genomics 1997) 3 4 23
ExternalLinks
Products for ALDH3A2 Gene
- Custom Antibody ServicesOriGene Antibodies for ALDH3A2
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- Browse OriGene Inhibitory RNA Products For ALDH3A2
- OriGene qPCR primer pairs for ALDH3A2
- OriGene qPCR primer pairs and template standards for ALDH3A2
- OriGene CRISPR knockouts for ALDH3A2
- MG207744
- MR207744
- MR207744L3
- MR207744L4
- RC200648
- RC200648L1
- RC200648L2
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- RC223398
- RC223398L1
- RC223398L2
- RC223398L3
- RC223398L4
- RG200648
- RG223398
- RR201214
- RR201214L3
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- MR207744L3V
- MR207744L4V
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- RC223398L2V
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- RC223398L4V
- RR201214L3V
- RR201214L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ALDH3A2
- Sino Biological Human cDNA Clone for ALDH3A2
- Browse Sino Biological Recombinant Proteins
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- Sino Biological Antibodies for ALDH3A2
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
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- Novus Biologicals proteins and lysates for ALDH3A2
- Browse Antibodies
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- Abcam antibodies for ALDH3A2
- Abcam proteins for ALDH3A2
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- Invitrogen Antibodies for ALDH3A2 (AFLGC-ALDH3A2)
- VectorBuilder Custom and pre-made DNA vectors for ALDH3A2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for ALDH3A2 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for ALDH3A2 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for ALDH3A2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for ALDH3A2
- antibodies-online: Show 42 available ALDH3A2 Antibodies ranked by validation data
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- antibodies-online: Search results for available ALDH3A2 related products ranked by validation data
- antibodies-online: Show 9 available ALDH3A2 Proteins ranked by validation data
- Compare Top ALDH3A2 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for ALDH3A2
- Search Santa Cruz Biotechnology (SCBT) for ALDH3A2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ALDH3A2
- Custom Antibody ServicesProSci Antibodies for ALDH3A2
- Search for ALDH3A2 Proteins at ProSci
- Horizon Cell Lines for ALDH3A2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALDH3A2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDH3A2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for ALDH3A2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH3A2
- Signalway Proteins for ALDH3A2
Sources for ALDH3A2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB