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Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017] See more...
Aliases for IVD Gene
Aliases for IVD Gene
External Ids for IVD Gene
- HGNC: 6186
- Entrez Gene: 3712
- Ensembl: ENSG00000128928
- OMIM: 607036
- UniProtKB: P26440
Previous GeneCards Identifiers for IVD Gene
- GC15P036065
- GC15P033593
- GC15P038276
- GC15P038413
- GC15P038484
- GC15P040697
- GC15P017541
Summaries for IVD Gene
-
Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
GeneCards Summary for IVD Gene
IVD (Isovaleryl-CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with IVD include Isovaleric Acidemia and Esophagus Sarcoma. Among its related pathways are Valproic acid pathway and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACADS.
UniProtKB/Swiss-Prot Summary for IVD Gene
-
Catalyzes the conversion of isovaleryl-CoA/3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA as an intermediate step in the leucine (Leu) catabolic pathway (PubMed:7640268). To a lesser extent, is also able to catalyze the oxidation of other saturated short-chain acyl-CoA thioesters as pentanoyl-CoA, hexenoyl-CoA and butenoyl-CoA (PubMed:7640268).
Additional gene information for IVD Gene
- HGNC(6186)
- Entrez Gene(3712)
- Ensembl(ENSG00000128928)
- OMIM(607036)
- UniProtKB(P26440)
- Open Targets Platform(ENSG00000128928)
- Monarch Initiative
- Search for IVD at DataMed
- Search for IVD at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IVD Gene
Genomics for IVD Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for IVD 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 IVD on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IVD
- Top Transcription factor binding sites by QIAGEN in the IVD gene promoter:
-
- CBF(2)
- CBF-A
- CBF-B
- CP1A
- CP2
- MyoD
- NF-1
- NF-Y
- NF-YA
- RORalpha2
Genomic Locations for IVD Gene
Genomic Locations for IVD Gene
- chr15:40,405,485-40,435,948
- (GRCh38/hg38)
- Size:
- 30,464 bases
- Orientation:
- Plus strand
- chr15:40,697,686-40,728,146
- (GRCh37/hg19)
- Size:
- 30,461 bases
- Orientation:
- Plus strand
Genomic View for IVD Gene
Genes around IVD on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q15.1 by HGNC
- 15q15.1 by Entrez Gene
- 15q15.1 by Ensembl
IVD 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 IVD Gene
Proteins for IVD Gene
-
Protein details for IVD Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P26440-IVD_HUMAN
- Recommended name:
- Isovaleryl-CoA dehydrogenase, mitochondrial
- Protein Accession:
- P26440
- B2RCV5
- B3KVI7
- J3KR54
- Q53XZ9
- Q96AF6
Protein attributes for IVD Gene
- Size:
- 426 amino acids
- Molecular mass:
- 46651 Da
- Cofactor:
- Name=FAD; Xref=ChEBI:CHEBI:57692;
- Quaternary structure:
-
- Homotetramer.
- SequenceCaution:
-
- Sequence=AAA52711.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAB92584.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH17202.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG37702.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for IVD Gene
Selected DME Specific Peptides for IVD Gene
- P26440:
-
- EPNAGSD
- KLDKLGMRGS
- KGVYVLMSGLDLERLVLA
- FQLMQGKMADMYTRLMA
- LRDAKLYEIGAGTSE
- IGALAMSEPNAGSDVVSM
- FKNLREFWKQLG
- RGSNTCE
- VLVMEEISR
- GTSEVRRLVIGRAFNADF
Post-translational modifications for IVD Gene
Other Protein References for IVD Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ IVD Antibody
- Creative Diagnostics Anti-IVD monoclonal antibody, clone 2C21
- Novus Biologicals Antibodies for IVD
-
Abcam antibodies for IVD
- Invitrogen Antibodies for IVD (AFLGC-IVD)
-
Boster Bio Antibodies for IVD
- Sino Biological Antibodies for IVD
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for IVD
- Origene Custom Protein Services for IVD
- Sino Biological Recombinant Proteins for IVD
- Sino Biological Cell Lysates for IVD
- ProSpec Recombinant Proteins for IVD
- antibodies-online: Show 16 available IVD Proteins ranked by validation data
- Compare Top IVD Proteins
-
Signalway Proteins for IVD
-
Abcam proteins for IVD
Assay Products
- antibodies-online: Show 9 available IVD Elisa Kits ranked by validation data
- Compare Top IVD Elisa Kits
-
Quality Products:
Domains & Families for IVD Gene
Gene Families for IVD Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for IVD Gene
- InterPro:
- Blocks:
-
- Acyl-CoA dehydrogenase
- ProtoNet:
Suggested Antigen Peptide Sequences for IVD Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ16602 fis, clone TESTI4007816, highly similar to Isovaleryl-CoA dehydrogenase, mitochondrial (EC 1.3.99.10) (B3KVI7_HUMAN)
- Isovaleryl-CoA dehydrogenase, mitochondrial (IVD_HUMAN)
- Isovaleryl-CoA dehydrogenase (O43577_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P26440- Family:
-
- Belongs to the acyl-CoA dehydrogenase family.
Function for IVD Gene
Molecular function for IVD Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the conversion of isovaleryl-CoA/3-methylbutanoyl-CoA to 3-methylbut-2-enoyl-CoA as an intermediate step in the leucine (Leu) catabolic pathway (PubMed:7640268). To a lesser extent, is also able to catalyze the oxidation of other saturated short-chain acyl-CoA thioesters as pentanoyl-CoA, hexenoyl-CoA and butenoyl-CoA (PubMed:7640268).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=3-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = 3-methylbut-2-enoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:12276, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57344, ChEBI:CHEBI:57345, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; EC=1.3.8.4; Evidence={ECO:0000269|PubMed:7640268};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H(+) + oxidized [electron-transfer flavoprotein] + pentanoyl-CoA = (2E)-pentenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43456, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57389, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:86160; Evidence={ECO:0000269|PubMed:7640268};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H(+) + hexanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43464, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:62077, ChEBI:CHEBI:62620; Evidence={ECO:0000269|PubMed:7640268};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=butanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-butenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:24004, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57332, ChEBI:CHEBI:57371, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; EC=1.3.8.1; Evidence={ECO:0000269|PubMed:7640268};.
- GENATLAS Biochemistry:
- isovaleryl-CoA dehydrogenase,branched chain,leucine catabolism
Enzyme Numbers (IUBMB) for IVD Gene
Phenotypes From GWAS Catalog for IVD Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003995 | acyl-CoA dehydrogenase activity | IEA | -- |
| GO:0004085 | butyryl-CoA dehydrogenase activity | IEA | -- |
| GO:0008470 | isovaleryl-CoA dehydrogenase activity | TAS,ISS | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016627 | oxidoreductase activity, acting on the CH-CH group of donors | IEA | -- |
Phenotypes for IVD Gene
- MGI mutant phenotypes for IVD:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for IVD:
-
- Increased vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 50%
- Increased gamma-H2AX phosphorylation
- Increased endosome-nucleus distance (endosomes dispersed in the cell periphery)
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased viability in glioblastoma multiforme (GBM) lineage
- Decreased viability after Maraba virus infection
- Increased replication of vaccinia virus (VACV)
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased homologous recombination repair frequency
Animal Models for IVD Gene
- MGI Knock Outs for IVD:
-
- Ivd Ivd<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IVD - Select products 50% OFF >
- * IVD CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IVD
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IVD
-
Santa Cruz Biotechnology (SCBT) CRISPR for IVD
miRNA for IVD Gene
- miRTarBase miRNAs that target IVD
-
- hsa-miR-124-3p (MIRT022872)
- hsa-miR-503-5p (MIRT041124)
- hsa-miR-484 (MIRT041643)
- hsa-let-7e-5p (MIRT051477)
- hsa-let-7a-5p (MIRT052426)
- hsa-miR-619-5p (MIRT519178)
- hsa-miR-5089-5p (MIRT519179)
- hsa-miR-6513-5p (MIRT519180)
- hsa-miR-6728-5p (MIRT519181)
- hsa-miR-769-3p (MIRT519182)
- hsa-miR-450b-3p (MIRT519183)
- hsa-miR-937-5p (MIRT519184)
- hsa-miR-7151-3p (MIRT519185)
- hsa-miR-5095 (MIRT519186)
- hsa-miR-3147 (MIRT519187)
- hsa-miR-4425 (MIRT519188)
- hsa-miR-5702 (MIRT519189)
- hsa-miR-6889-3p (MIRT519190)
- hsa-miR-1208 (MIRT519191)
- hsa-miR-6760-3p (MIRT519192)
- hsa-miR-6504-3p (MIRT519193)
- hsa-miR-4438 (MIRT519194)
- hsa-miR-640 (MIRT637945)
- hsa-miR-203b-3p (MIRT637946)
- hsa-miR-7158-3p (MIRT637947)
- hsa-miR-6821-3p (MIRT637948)
- hsa-miR-378a-5p (MIRT637949)
- hsa-miR-6790-3p (MIRT637950)
- hsa-miR-4635 (MIRT637951)
- hsa-miR-4680-5p (MIRT637952)
- hsa-miR-3653-5p (MIRT637953)
- hsa-miR-3934-5p (MIRT637954)
- hsa-miR-764 (MIRT637955)
- hsa-miR-125a-3p (MIRT637956)
- hsa-miR-6131 (MIRT675666)
- hsa-miR-3663-5p (MIRT675667)
- hsa-miR-6787-3p (MIRT675668)
- hsa-miR-1228-3p (MIRT677715)
- hsa-miR-4755-3p (MIRT677716)
- hsa-miR-6747-3p (MIRT677717)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IVD
- Browse OriGene Inhibitory RNA Products For IVD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IVD
Clone Products
- Applied Biological Materials (abm): Clones for IVD - Select products 50% OFF >
- * IVD as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206749
- MR206749
- MR206749L3
- MR206749L4
- RC201077
- RC201077L1
- RC201077L2
- RC201077L3
- RC201077L4
- RC228318
- RC228318L3
- RC228318L4
- RC229217
- RC229217L1
- RC229217L2
- RC229217L3
- RC229217L4
- RG201077
- RG228318
- RG229217
- RR200814
- RR200814L3
- RR200814L4
- MR206749L3V
- MR206749L4V
- RC201077L1V
- RC201077L2V
- RC201077L3V
- RC201077L4V
- RC228318L3V
- RC228318L4V
- RC229217L1V
- RC229217L2V
- RC229217L3V
- RC229217L4V
- RR200814L3V
- RR200814L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for IVD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IVD
Cell Line Products
-
Horizon Cell Lines for IVD
No data available for Transcription Factor Targets and HOMER Transcription for IVD Gene
Localization for IVD Gene
Subcellular locations from UniProtKB/Swiss-Prot for IVD Gene
- Mitochondrion matrix.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 3 |
| cytosol | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (3)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005739 | mitochondrion | IBA | -- |
| GO:0005759 | mitochondrial matrix | NAS,TAS | -- |
| GO:0031966 | mitochondrial membrane | IEA | -- |
Pathways & Interactions for IVD Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Valine, leucine and isoleucine degradation | ||
| 2 | Metabolism |
.40
|
|
| 3 | Valproic acid pathway | ||
| 4 | Viral mRNA Translation | ||
Pathways by source for IVD Gene
2 BioSystems pathways for IVD Gene
3 Reactome pathways for IVD Gene
1 PharmGKB pathway for IVD Gene
2 KEGG pathways for IVD Gene
UniProtKB/Swiss-Prot P26440-IVD_HUMAN
- Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 1/3.
Interacting Proteins for IVD Gene
Selected Interacting proteins:
P26440-IVD_HUMAN
ENSP00000418397
for IVD Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for IVD
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006552 | leucine catabolic process | IEA,ISS | -- |
| GO:0009083 | branched-chain amino acid catabolic process | TAS | -- |
| GO:0033539 | fatty acid beta-oxidation using acyl-CoA dehydrogenase | IDA | 3597357 |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for IVD Gene
Drugs & Compounds for IVD Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
| (2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
| (2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
| (2E)-Octenoyl-CoA |
|
10018-94-7 |
|
|||
| (2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
|
Transcripts for IVD Gene
mRNA/cDNA for IVD Gene
- 7 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000466756 428 nts (view in UCSC)
- ENST00000473112 920 nts (view in UCSC)
- ENST00000479013 4251 nts (view in UCSC)
- ENST00000481262 999 nts (view in UCSC)
- ENST00000484250 498 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for IVD - Select products 50% OFF >
- * IVD CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for IVD
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IVD
-
Santa Cruz Biotechnology (SCBT) CRISPR for IVD
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IVD
- Browse OriGene Inhibitory RNA Products For IVD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IVD
Clone Products
- Applied Biological Materials (abm): Clones for IVD - Select products 50% OFF >
- * IVD as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206749
- MR206749
- MR206749L3
- MR206749L4
- RC201077
- RC201077L1
- RC201077L2
- RC201077L3
- RC201077L4
- RC228318
- RC228318L3
- RC228318L4
- RC229217
- RC229217L1
- RC229217L2
- RC229217L3
- RC229217L4
- RG201077
- RG228318
- RG229217
- RR200814
- RR200814L3
- RR200814L4
- MR206749L3V
- MR206749L4V
- RC201077L1V
- RC201077L2V
- RC201077L3V
- RC201077L4V
- RC228318L3V
- RC228318L4V
- RC229217L1V
- RC229217L2V
- RC229217L3V
- RC229217L4V
- RR200814L3V
- RR200814L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for IVD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IVD
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | - |
Relevant External Links for IVD Gene
- GeneLoc Exon Structure for
- IVD
Expression for IVD Gene
This gene is overexpressed in Liver (7.1) and Adrenal (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IVD Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IVD
SOURCE GeneReport for Unigene cluster for IVD Gene:
Hs.513646Evidence on tissue expression from TISSUES for IVD Gene
- Nervous system(4.9)
- Liver(4.6)
- Blood(4.5)
- Lung(3.4)
- Muscle(2.8)
- Heart(2.8)
- Kidney(2.6)
- Skin(2.5)
- Thyroid gland(2.3)
- Intestine(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for IVD Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- lymphatic
- nervous
- urinary
Regions:
Head and neck:
- brain
- head
Thorax:
- esophagus
Abdomen:
- kidney
- stomach
General:
- blood
- bone marrow
- coagulation system
- red blood cell
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for IVD
-
OriGene qPCR primer pairs and template standards for IVD
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 and mRNA Expression by UniProt/SwissProt for IVD Gene
Orthologs for IVD Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | IVD 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | IVD 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | IVD 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ivd 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Ivd 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | IVD 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | IVD 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | IVD 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | IVD 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ivd 30 |
|
||
| Str.3367 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3037 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ivd 30 31 |
|
OneToOne | |
| Dr.203 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG6638 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006780 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | C02B10.1 32 |
|
|
|
| ivd-1 30 31 |
|
OneToOne | |||
| C02D5.1 32 |
|
|
|||
| C37A2.3 32 |
|
|
|||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | IVD 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.8864 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.16423 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os05g0125500 30 |
|
||
| Os.28409 30 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.1939 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.27596 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.8990 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3391 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU02126 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3948 30 |
|
- Species where no ortholog for IVD was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- 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 Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for IVD Gene
- ENSEMBL:
- Gene Tree for IVD (if available)
- TreeFam:
- Gene Tree for IVD (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for IVD: view image
Paralogs for IVD Gene
Paralogs for IVD Gene
(9) SIMAP similar genes for IVD Gene using alignment to 9 proteins:
- IVD_HUMAN
- H0YKV0_HUMAN
- H0YLC3_HUMAN
- H0YN10_HUMAN
- H0YNA4_HUMAN
- H0YNT5_HUMAN
- H7C4G6_HUMAN
- J3KR54_HUMAN
- O43577_HUMAN
Variants for IVD Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IVD Gene
| SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 635282 | Likely Pathogenic: Isovaleryl-CoA dehydrogenase deficiency | 40,415,405(+) | A/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 645855 | Uncertain Significance: Isovaleryl-CoA dehydrogenase deficiency | 40,416,336(+) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 646307 | Uncertain Significance: Isovaleryl-CoA dehydrogenase deficiency | 40,407,972(+) | T/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 648047 | Uncertain Significance: Isovaleryl-CoA dehydrogenase deficiency | 40,407,639(+) | C/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 653100 | Pathogenic: Isovaleryl-CoA dehydrogenase deficiency | 40,407,947(+) | G/A | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT |
Residual Variation Intolerance Score:
30.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.70;
32.46% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for IVD Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IVD Gene
Disorders for IVD Gene
(11) MalaCards diseases for IVD Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| isovaleric acidemia |
|
|
| esophagus sarcoma |
|
|
| esophageal tuberculosis |
|
|
| salivary gland carcinoma |
|
|
| metabolic acidosis |
|
|
Search IVD in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
IVD_HUMAN- Isovaleric acidemia (IVA) [MIM:243500]: A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death. {ECO:0000269 PubMed:2063866, ECO:0000269 PubMed:22004070, ECO:0000269 PubMed:22350545, ECO:0000269 PubMed:23587913, ECO:0000269 PubMed:28535199, ECO:0000269 PubMed:9665741}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for IVD Gene
isovalericacidemia (IVD deficiency),recurrent acidosis,with ketosis,mild hyperammonemia,lethargy and coma,sweety feet during episodes
Additional Disease Information for IVD
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
Publications for IVD Gene
- Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. (PMID: 2063866) Vockley J … Tanaka K (American journal of human genetics 1991) 2 3 4
- Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. (PMID: 2318964) Matsubara Y … Tanaka K (The Journal of clinical investigation 1990) 3 4 23
- Clinical variability of isovaleric acidemia in a genetically homogeneous population. (PMID: 22350545) Dercksen M … Wanders RJ (Journal of inherited metabolic disease 2012) 3 4
- Human metabolic individuality in biomedical and pharmaceutical research. (PMID: 21886157) Suhre K … Gieger C (Nature 2011) 3 41
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
ExternalLinks
Products for IVD Gene
- Custom Antibody ServicesOriGene Antibodies for IVD
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for IVD
- Origene Custom Protein Services for IVD
- Origene shrna, sirna, and RNAi products in human, mouse, rat for IVD
- Browse OriGene Inhibitory RNA Products For IVD
- OriGene qPCR primer pairs for IVD
- OriGene qPCR primer pairs and template standards for IVD
- OriGene CRISPR knockouts for IVD
- MG206749
- MR206749
- MR206749L3
- MR206749L4
- RC201077
- RC201077L1
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- RC229217L1V
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- RC229217L3V
- RC229217L4V
- RR200814L3V
- RR200814L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For IVD
- Sino Biological Human cDNA Clone for IVD
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- Sino Biological Cell Lysates for IVD
- Sino Biological Antibodies for IVD
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for IVD
- Novus Biologicals proteins and lysates for IVD
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- Abcam antibodies for IVD
- Abcam proteins for IVD
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- Browse Primary Antibodies
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- Browse Monoclonal Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for IVD (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for IVD (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for IVD (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for IVD CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for IVD
- antibodies-online: Show 13 available IVD Antibodies ranked by validation data
- Compare Top IVD Antibodies
- antibodies-online: Show 9 available IVD Elisa Kits ranked by validation data
- Compare Top IVD Elisa Kits
- Quality Products:
- antibodies-online: Show 16 available IVD Proteins ranked by validation data
- Compare Top IVD Proteins
- Search Santa Cruz Biotechnology (SCBT) for IVD siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for IVD
- Horizon Cell Lines for IVD
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for IVD
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for IVD
- Search GeneCopoeia for miRNA 3'UTR Target clone products for IVD
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IVD
- Boster Bio Antibodies for IVD
- Browse Boster Bio ELISA Kits
- Signalway Proteins for IVD
Sources for IVD 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