Human Gene IVD (ENST00000487418.8_8) from GENCODE V47lift37
Description: isovaleryl-CoA dehydrogenase, transcript variant 1 (from RefSeq NM_002225.5)
Gencode Transcript: ENST00000487418.8_8
Gencode Gene: ENSG00000128928.10_15
Transcript (Including UTRs)
Position: hg19 chr15:40,697,996-40,713,507 Size: 15,512 Total Exon Count: 12 Strand: +
Coding Region
Position: hg19 chr15:40,698,029-40,710,462 Size: 12,434 Coding Exon Count: 12
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: IVD
Diseases sorted by gene-association score: isovaleric acidemia * (1711), bone deterioration disease (19), bone structure disease (19), acute endophthalmitis (15), discitis (9), purulent endophthalmitis (9), polyradiculopathy (7), boomerang dysplasia (7), strongyloidiasis (6), degenerative disc disease (6), spondylolisthesis (6), amphetamine abuse (6), atelosteogenesis (5)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK122922 - Homo sapiens cDNA FLJ16602 fis, clone TESTI4007816, highly similar to Isovaleryl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.10).M34192 - Human isovaleryl-coA dehydrogenase (IVD) mRNA, complete cds.BC017202 - Homo sapiens isovaleryl Coenzyme A dehydrogenase, mRNA (cDNA clone MGC:3496 IMAGE:3627787), complete cds.GQ901004 - Homo sapiens clone HEL-T-116 epididymis secretory sperm binding protein mRNA, complete cds.AK315296 - Homo sapiens cDNA, FLJ96315, Homo sapiens isovaleryl Coenzyme A dehydrogenase (IVD), nucleargene encoding mitochondrial protein, mRNA.KJ901040 - Synthetic construct Homo sapiens clone ccsbBroadEn_10434 IVD gene, encodes complete protein.KR710290 - Synthetic construct Homo sapiens clone CCSBHm_00011081 IVD (IVD) mRNA, encodes complete protein.KR710291 - Synthetic construct Homo sapiens clone CCSBHm_00011098 IVD (IVD) mRNA, encodes complete protein.KR710292 - Synthetic construct Homo sapiens clone CCSBHm_00011101 IVD (IVD) mRNA, encodes complete protein.KU178150 - Homo sapiens isovaleryl-CoA dehydrogenase isoform 1 (IVD) mRNA, partial cds.KU178151 - Homo sapiens isovaleryl-CoA dehydrogenase isoform 2 (IVD) mRNA, partial cds.KU178152 - Homo sapiens isovaleryl-CoA dehydrogenase isoform 3 (IVD) mRNA, complete cds, alternatively spliced.DQ895793 - Synthetic construct Homo sapiens clone IMAGE:100010253; FLH187699.01L; RZPDo839C03149D isovaleryl Coenzyme A dehydrogenase (IVD) gene, encodes complete protein.BT007145 - Homo sapiens isovaleryl Coenzyme A dehydrogenase mRNA, complete cds.DQ892577 - Synthetic construct clone IMAGE:100005207; FLH187703.01X; RZPDo839C03150D isovaleryl Coenzyme A dehydrogenase (IVD) gene, encodes complete protein.DQ591778 - Homo sapiens piRNA piR-58890, complete sequence.AK092168 - Homo sapiens cDNA FLJ34849 fis, clone NT2NE2011687.AF070531 - Homo sapiens clone 24764 mRNA sequence.AK022777 - Homo sapiens cDNA FLJ12715 fis, clone NT2RP1001185, highly similar to Human isovaleryl-coA dehydrogenase (IVD) mRNA.JD055737 - Sequence 36761 from Patent EP1572962.JD453017 - Sequence 434041 from Patent EP1572962.JD398867 - Sequence 379891 from Patent EP1572962.JD355108 - Sequence 336132 from Patent EP1572962.JD490477 - Sequence 471501 from Patent EP1572962.JD271193 - Sequence 252217 from Patent EP1572962.JD484520 - Sequence 465544 from Patent EP1572962.JD535928 - Sequence 516952 from Patent EP1572962.JD237504 - Sequence 218528 from Patent EP1572962.JD133620 - Sequence 114644 from Patent EP1572962.JD420943 - Sequence 401967 from Patent EP1572962.AY826821 - Homo sapiens cell growth-inhibiting protein 48a mRNA, complete cds.AY826822 - Homo sapiens cell growth-inhibiting protein 48b mRNA, complete cds.AY826823 - Homo sapiens cell growth-inhibiting protein 48c mRNA, complete cds.JD514945 - Sequence 495969 from Patent EP1572962.JD294137 - Sequence 275161 from Patent EP1572962.JD421512 - Sequence 402536 from Patent EP1572962.JD179115 - Sequence 160139 from Patent EP1572962.JD179116 - Sequence 160140 from Patent EP1572962.JD169296 - Sequence 150320 from Patent EP1572962.JD321065 - Sequence 302089 from Patent EP1572962.JD388222 - Sequence 369246 from Patent EP1572962.JD118365 - Sequence 99389 from Patent EP1572962.JD146094 - Sequence 127118 from Patent EP1572962.JD551655 - Sequence 532679 from Patent EP1572962.JD507305 - Sequence 488329 from Patent EP1572962.JD144717 - Sequence 125741 from Patent EP1572962.BC037304 - Homo sapiens cDNA clone IMAGE:5264866.JD451181 - Sequence 432205 from Patent EP1572962.DQ596676 - Homo sapiens piRNA piR-34742, complete sequence.
Biochemical and Signaling Pathways
BioCyc Knowledge Library LEU-DEG2-PWY - L-leucine degradation
Other Names for This Gene
Alternate Gene Symbols: A0A0A0MT83, A0A0A0MT83_HUMAN, A0A0S2Z422, ENST00000487418.1, ENST00000487418.2, ENST00000487418.3, ENST00000487418.4, ENST00000487418.5, ENST00000487418.6, ENST00000487418.7, IVD , NM_002225, uc322hpt.1, uc322hpt.2UCSC ID: ENST00000487418.8_8RefSeq Accession: NM_002225.5
GeneReviews for This Gene
GeneReviews article(s) related to gene IVD:isovaleric-a (Classic Isovaleric Acidemia)
Gene Model Information
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for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.