HIBADH (3-hydroxyisobutyrate dehydrogenase) - Rat Genome Database

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Gene: HIBADH (3-hydroxyisobutyrate dehydrogenase) Homo sapiens
Analyze
Symbol: HIBADH
Name: 3-hydroxyisobutyrate dehydrogenase
RGD ID: 732658
HGNC Page HGNC:4907
Description: Enables 3-hydroxyisobutyrate dehydrogenase activity. Involved in valine catabolic process. Located in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3'-hydroxyisobutyrate dehydrogenase; 3-hydroxyisobutyrate dehydrogenase, mitochondrial; MGC40361; NS5ATP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38727,525,442 - 27,662,883 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl727,525,442 - 27,662,883 (-)EnsemblGRCh38hg38GRCh38
GRCh37727,565,061 - 27,702,502 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36727,531,586 - 27,669,127 (-)NCBINCBI36Build 36hg18NCBI36
Build 34727,338,302 - 27,475,842NCBI
Celera727,553,696 - 27,691,196 (-)NCBICelera
Cytogenetic Map7p15.2NCBI
HuRef727,445,802 - 27,583,281 (-)NCBIHuRef
CHM1_1727,565,079 - 27,702,664 (-)NCBICHM1_1
T2T-CHM13v2.0727,661,820 - 27,799,261 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2727,616,251 - 27,753,745 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-methoxyethanol  (ISO)
2-methyl-2-[4-(1,2,3,4-tetrahydronaphthalen-1-yl)phenoxy]propanoic acid  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
acetamide  (ISO)
acrolein  (EXP)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chloroform  (ISO)
chromium trinitrate  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
dieldrin  (ISO)
diethylstilbestrol  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
erythromycin estolate  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
glafenine  (ISO)
glyphosate  (ISO)
indometacin  (ISO)
inulin  (ISO)
ivermectin  (EXP)
ketoconazole  (EXP)
menadione  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nafenopin  (ISO)
nickel atom  (EXP)
nitrogen dioxide  (EXP)
Nutlin-3  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
potassium chromate  (ISO)
progesterone  (ISO)
quinidine  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (EXP)
theophylline  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrial matrix  (TAS)
mitochondrion  (HTP,IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8313870   PMID:9847074   PMID:12477932   PMID:12690205   PMID:12853948   PMID:15342556   PMID:15489334   PMID:15967462   PMID:16466957   PMID:19322201   PMID:19834535   PMID:20877624  
PMID:21873635   PMID:22990118   PMID:23423614   PMID:26344197   PMID:28380382   PMID:28514442   PMID:31536960   PMID:31586073   PMID:32235678   PMID:32296183   PMID:33845483   PMID:33961781  
PMID:34316702   PMID:34800366   PMID:35032548   PMID:35271311   PMID:35831314   PMID:36042349   PMID:36057605   PMID:36215168   PMID:36758106   PMID:37609425   PMID:38334954   PMID:39147351  


Genomics

Comparative Map Data
HIBADH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38727,525,442 - 27,662,883 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl727,525,442 - 27,662,883 (-)EnsemblGRCh38hg38GRCh38
GRCh37727,565,061 - 27,702,502 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36727,531,586 - 27,669,127 (-)NCBINCBI36Build 36hg18NCBI36
Build 34727,338,302 - 27,475,842NCBI
Celera727,553,696 - 27,691,196 (-)NCBICelera
Cytogenetic Map7p15.2NCBI
HuRef727,445,802 - 27,583,281 (-)NCBIHuRef
CHM1_1727,565,079 - 27,702,664 (-)NCBICHM1_1
T2T-CHM13v2.0727,661,820 - 27,799,261 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2727,616,251 - 27,753,745 (-)NCBI
Hibadh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39652,523,215 - 52,617,285 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl652,523,213 - 52,617,374 (-)EnsemblGRCm39 Ensembl
GRCm38652,546,230 - 52,640,300 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl652,546,228 - 52,640,389 (-)EnsemblGRCm38mm10GRCm38
MGSCv37652,496,224 - 52,590,294 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36652,475,808 - 52,569,878 (-)NCBIMGSCv36mm8
Celera653,069,543 - 53,163,491 (-)NCBICelera
Cytogenetic Map6B3NCBI
cM Map625.6NCBI
Hibadh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8482,979,759 - 83,077,819 (-)NCBIGRCr8
mRatBN7.2481,649,180 - 81,747,244 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl481,649,175 - 81,780,617 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx486,863,552 - 86,961,661 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0482,638,929 - 82,737,036 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0481,065,988 - 81,164,230 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0482,604,369 - 82,702,429 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl482,604,373 - 82,702,429 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04147,270,733 - 147,368,793 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4480,850,300 - 80,948,361 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1481,134,949 - 81,232,983 (-)NCBI
Celera476,531,774 - 76,629,846 (-)NCBICelera
Cytogenetic Map4q24NCBI
Hibadh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541029,180,184 - 29,294,315 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541029,180,411 - 29,294,273 (-)NCBIChiLan1.0ChiLan1.0
HIBADH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2632,350,862 - 32,487,161 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1780,675,588 - 80,811,869 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0728,166,127 - 28,299,845 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1727,763,021 - 27,896,598 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl727,763,021 - 27,896,598 (-)Ensemblpanpan1.1panPan2
HIBADH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11440,672,294 - 40,780,608 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1440,673,008 - 40,780,516 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1440,103,065 - 40,211,269 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01440,612,124 - 40,720,480 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11440,724,156 - 40,832,851 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01440,410,011 - 40,517,904 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01440,768,329 - 40,876,417 (-)NCBIUU_Cfam_GSD_1.0
Hibadh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511884,907,096 - 85,008,177 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049364784,118,752 - 4,219,908 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HIBADH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1844,985,425 - 45,208,347 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11844,985,410 - 45,102,171 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21849,444,226 - 49,485,380 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HIBADH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12130,708,862 - 30,848,158 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2130,708,943 - 30,848,332 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604273,892,111 - 74,031,577 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hibadh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247392,964,982 - 3,078,074 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247392,965,096 - 3,077,810 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HIBADH
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p15.2-14.3(chr7:25511691-30421133)x1 copy number loss See cases [RCV000052310] Chr7:25511691..30421133 [GRCh38]
Chr7:25551310..30460749 [GRCh37]
Chr7:25517835..30427274 [NCBI36]
Chr7:7p15.2-14.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 copy number loss See cases [RCV000134333] Chr7:20210912..27849400 [GRCh38]
Chr7:20250535..27889019 [GRCh37]
Chr7:20217060..27855544 [NCBI36]
Chr7:7p21.1-15.2
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p15.3-15.2(chr7:25448425-27578387)x3 copy number gain See cases [RCV000447735] Chr7:25448425..27578387 [GRCh37]
Chr7:7p15.3-15.2
likely pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1 copy number loss See cases [RCV000510695] Chr7:24344104..28879357 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_152740.4(HIBADH):c.658A>G (p.Met220Val) single nucleotide variant not specified [RCV004318672] Chr7:27538378 [GRCh38]
Chr7:27577997 [GRCh37]
Chr7:7p15.2
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NC_000007.13:g.23236782_30690453del7453672 deletion Silver Russell Syndrome-related disorder [RCV000785664] Chr7:23236782..30690453 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_152740.4(HIBADH):c.582dup (p.Asn195fs) duplication not provided [RCV000998781] Chr7:27543002..27543003 [GRCh38]
Chr7:27582621..27582622 [GRCh37]
Chr7:7p15.2
uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069) copy number loss Cyclical vomiting syndrome [RCV002280775] Chr7:25451740..33864069 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2
likely pathogenic
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) copy number gain not specified [RCV002053677] Chr7:27507832..39072473 [GRCh37]
Chr7:7p15.2-14.1
likely pathogenic
NM_152740.4(HIBADH):c.22C>T (p.Leu8Phe) single nucleotide variant not specified [RCV004301212] Chr7:27662767 [GRCh38]
Chr7:27702386 [GRCh37]
Chr7:7p15.2
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7p15.2-15.1(chr7:26418391-28323299)x3 copy number gain not provided [RCV002474593] Chr7:26418391..28323299 [GRCh37]
Chr7:7p15.2-15.1
uncertain significance
GRCh37/hg19 7p15.2-15.1(chr7:27591948-28096955)x1 copy number loss not provided [RCV002472828] Chr7:27591948..28096955 [GRCh37]
Chr7:7p15.2-15.1
uncertain significance
NM_152740.4(HIBADH):c.710C>A (p.Pro237Gln) single nucleotide variant not specified [RCV004123834] Chr7:27531334 [GRCh38]
Chr7:27570953 [GRCh37]
Chr7:7p15.2
uncertain significance
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1 copy number loss not provided [RCV002475752] Chr7:27133786..34466477 [GRCh37]
Chr7:7p15.2-14.3
pathogenic
NM_152740.4(HIBADH):c.71C>T (p.Ala24Val) single nucleotide variant not specified [RCV004100456] Chr7:27662718 [GRCh38]
Chr7:27702337 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.748C>T (p.Arg250Trp) single nucleotide variant not specified [RCV004232787] Chr7:27531296 [GRCh38]
Chr7:27570915 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.434A>G (p.Lys145Arg) single nucleotide variant not specified [RCV004198055] Chr7:27629421 [GRCh38]
Chr7:27669040 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.584A>G (p.Asn195Ser) single nucleotide variant not specified [RCV004187414] Chr7:27543001 [GRCh38]
Chr7:27582620 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.620C>A (p.Ala207Glu) single nucleotide variant not specified [RCV004094264] Chr7:27538416 [GRCh38]
Chr7:27578035 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.799G>A (p.Val267Ile) single nucleotide variant not specified [RCV004258389] Chr7:27531245 [GRCh38]
Chr7:27570864 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.515C>T (p.Thr172Met) single nucleotide variant not specified [RCV004299913] Chr7:27543070 [GRCh38]
Chr7:27582689 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.245G>A (p.Gly82Asp) single nucleotide variant not specified [RCV004312884] Chr7:27649480 [GRCh38]
Chr7:27689099 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.89C>T (p.Ala30Val) single nucleotide variant not specified [RCV004364172] Chr7:27662700 [GRCh38]
Chr7:27702319 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.571T>C (p.Cys191Arg) single nucleotide variant not provided [RCV003436695] Chr7:27543014 [GRCh38]
Chr7:27582633 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.73G>T (p.Ala25Ser) single nucleotide variant not provided [RCV003436696] Chr7:27662716 [GRCh38]
Chr7:27702335 [GRCh37]
Chr7:7p15.2
uncertain significance
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1 copy number loss not specified [RCV003986712] Chr7:17736012..30663423 [GRCh37]
Chr7:7p21.1-14.3
pathogenic
NM_152740.4(HIBADH):c.721G>T (p.Ala241Ser) single nucleotide variant HIBADH-related disorder [RCV003911954] Chr7:27531323 [GRCh38]
Chr7:27570942 [GRCh37]
Chr7:7p15.2
likely benign
NM_152740.4(HIBADH):c.229G>A (p.Glu77Lys) single nucleotide variant not specified [RCV004397084] Chr7:27649496 [GRCh38]
Chr7:27689115 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.68C>T (p.Pro23Leu) single nucleotide variant not specified [RCV004397086] Chr7:27662721 [GRCh38]
Chr7:27702340 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.31G>A (p.Ala11Thr) single nucleotide variant not specified [RCV004397085] Chr7:27662758 [GRCh38]
Chr7:27702377 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.133A>G (p.Ile45Val) single nucleotide variant not specified [RCV004626193] Chr7:27649592 [GRCh38]
Chr7:27689211 [GRCh37]
Chr7:7p15.2
uncertain significance
NC_000007.13:g.(?_26232136)_(28172587_?)del deletion not provided [RCV004583626] Chr7:26232136..28172587 [GRCh37]
Chr7:7p15.2-15.1
pathogenic
NM_152740.4(HIBADH):c.500G>T (p.Arg167Leu) single nucleotide variant not specified [RCV004630602] Chr7:27543085 [GRCh38]
Chr7:27582704 [GRCh37]
Chr7:7p15.2
uncertain significance
NM_152740.4(HIBADH):c.152G>A (p.Gly51Glu) single nucleotide variant not specified [RCV004630603] Chr7:27649573 [GRCh38]
Chr7:27689192 [GRCh37]
Chr7:7p15.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:813
Count of miRNA genes:480
Interacting mature miRNAs:517
Transcripts:ENST00000265395, ENST00000425715, ENST00000428288, ENST00000496814
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597213690GWAS1309764_Hheel bone mineral density QTL GWAS1309764 (human)8e-28heel bone mineral densitybone mineral density (CMO:0001226)72761340627613408Human
597130547GWAS1226621_Hpulse pressure measurement QTL GWAS1226621 (human)2e-09pulse pressure measurementpulse pressure (CMO:0000292)72752669627526697Human
597055281GWAS1151355_Hsystolic blood pressure QTL GWAS1151355 (human)3e-11systolic blood pressuresystolic blood pressure (CMO:0000004)72752669627526697Human
597169713GWAS1265787_Hurolithiasis QTL GWAS1265787 (human)1e-09urolithiasis72757081427570816Human
597059551GWAS1155625_Hvital capacity QTL GWAS1155625 (human)2e-11vital capacity72758585027585851Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human
597331178GWAS1427252_Hprostate cancer QTL GWAS1427252 (human)0.000002prostate cancer72760355227603553Human
597201001GWAS1297075_Hnephrolithiasis QTL GWAS1297075 (human)1e-11nephrolithiasis72761358827613589Human
597194250GWAS1290324_Hsystolic blood pressure QTL GWAS1290324 (human)6e-11systolic blood pressuresystolic blood pressure (CMO:0000004)72752669627526697Human
597041636GWAS1137710_Hnephrolithiasis QTL GWAS1137710 (human)3e-10nephrolithiasis72761358827613589Human
597033924GWAS1129998_Hrisk-taking behaviour QTL GWAS1129998 (human)4e-09risk-taking behaviour72763856627638567Human
597420297GWAS1516371_Hsystolic blood pressure QTL GWAS1516371 (human)6e-10systolic blood pressuresystolic blood pressure (CMO:0000004)72764552727645528Human
597134244GWAS1230318_Hdiastolic blood pressure QTL GWAS1230318 (human)0.000007diastolic blood pressurediastolic blood pressure (CMO:0000005)72752669627526697Human
407114455GWAS763431_Halcohol consumption measurement QTL GWAS763431 (human)8e-09response to alcohol trait (VT:0010489)ethanol drink intake rate (CMO:0001407)72756101527561016Human
597032486GWAS1128560_Hbody height QTL GWAS1128560 (human)2e-08body height (VT:0001253)body height (CMO:0000106)72759085427590855Human
597347586GWAS1443660_Hnephrolithiasis QTL GWAS1443660 (human)8e-17nephrolithiasis72759510727595108Human
597047885GWAS1143959_Hcardiovascular disease QTL GWAS1143959 (human)3e-08cardiovascular disease72753232627532327Human
406920346GWAS569322_Hrisk-taking behaviour QTL GWAS569322 (human)4e-09risk-taking behaviour72756101527561016Human
597437991GWAS1534065_H3-hydroxyisobutyrate measurement, cerebrospinal fluid biomarker measurement QTL GWAS1534065 (human)3e-223-hydroxyisobutyrate measurement, cerebrospinal fluid biomarker measurementcerebrospinal fluid chemistry measurement (CMO:0001241)72761960227619603Human
597200420GWAS1296494_Hbody height QTL GWAS1296494 (human)1e-25body height (VT:0001253)body height (CMO:0000106)72753844927538450Human
597041675GWAS1137749_Hnephrolithiasis QTL GWAS1137749 (human)1e-10nephrolithiasis72758654627586547Human

Markers in Region
D7S2556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,635,178 - 27,635,262UniSTSGRCh37
Build 36727,601,703 - 27,601,787RGDNCBI36
Celera727,623,810 - 27,623,894RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,515,904 - 27,515,986UniSTS
CRA_TCAGchr7v2727,686,366 - 27,686,448UniSTS
Marshfield Genetic Map741.69RGD
Marshfield Genetic Map741.69UniSTS
Genethon Genetic Map742.1UniSTS
deCODE Assembly Map743.53UniSTS
Whitehead-YAC Contig Map7 UniSTS
GDB:1317648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,691,174 - 27,691,348UniSTSGRCh37
Build 36727,657,699 - 27,657,873RGDNCBI36
Celera727,679,748 - 27,679,922RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,571,841 - 27,572,015UniSTS
CRA_TCAGchr7v2727,742,304 - 27,742,478UniSTS
RH103301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,565,448 - 27,565,577UniSTSGRCh37
Build 36727,531,973 - 27,532,102RGDNCBI36
Celera727,554,085 - 27,554,214RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,446,191 - 27,446,320UniSTS
CRA_TCAGchr7v2727,616,640 - 27,616,769UniSTS
GeneMap99-GB4 RH Map7118.4UniSTS
G66854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,691,581 - 27,691,918UniSTSGRCh37
Build 36727,658,106 - 27,658,443RGDNCBI36
Celera727,680,155 - 27,680,492RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,572,248 - 27,572,585UniSTS
CRA_TCAGchr7v2727,742,711 - 27,743,048UniSTS
SHGC-144493  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera727,599,035 - 27,599,374RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,491,141 - 27,491,480UniSTS
CRA_TCAGchr7v2727,661,591 - 27,661,930UniSTS
TNG Radiation Hybrid Map713004.0UniSTS
SHGC-144887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,608,909 - 27,609,228UniSTSGRCh37
Build 36727,575,434 - 27,575,753RGDNCBI36
Celera727,597,531 - 27,597,850RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,489,637 - 27,489,956UniSTS
CRA_TCAGchr7v2727,660,087 - 27,660,406UniSTS
TNG Radiation Hybrid Map713061.0UniSTS
SHGC-172010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,698,315 - 27,698,636UniSTSGRCh37
Build 36727,664,840 - 27,665,161RGDNCBI36
Celera727,686,891 - 27,687,212RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,578,984 - 27,579,305UniSTS
CRA_TCAGchr7v2727,749,447 - 27,749,768UniSTS
TNG Radiation Hybrid Map713084.0UniSTS
SHGC-172278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,696,977 - 27,697,301UniSTSGRCh37
Build 36727,663,502 - 27,663,826RGDNCBI36
Celera727,685,553 - 27,685,877RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,577,646 - 27,577,970UniSTS
CRA_TCAGchr7v2727,748,109 - 27,748,433UniSTS
TNG Radiation Hybrid Map713099.0UniSTS
RH16419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,579,631 - 27,579,790UniSTSGRCh37
Build 36727,546,156 - 27,546,315RGDNCBI36
Celera727,568,253 - 27,568,412RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,460,362 - 27,460,521UniSTS
CRA_TCAGchr7v2727,630,809 - 27,630,968UniSTS
GeneMap99-GB4 RH Map7118.4UniSTS
NCBI RH Map7440.2UniSTS
GDB:1318681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,666,713 - 27,666,806UniSTSGRCh37
Build 36727,633,238 - 27,633,331RGDNCBI36
Celera727,655,323 - 27,655,416RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,547,412 - 27,547,505UniSTS
CRA_TCAGchr7v2727,717,880 - 27,717,973UniSTS
D7S2363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,674,680 - 27,674,875UniSTSGRCh37
Build 36727,641,205 - 27,641,400RGDNCBI36
Celera727,663,286 - 27,663,487RGD
Cytogenetic Map7p15.2UniSTS
HuRef727,555,375 - 27,555,576UniSTS
CRA_TCAGchr7v2727,725,843 - 27,726,044UniSTS
Whitehead-RH Map777.1UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7432.0UniSTS
HIBADH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37727,570,867 - 27,570,967UniSTSGRCh37
Celera727,559,488 - 27,559,588UniSTS
HuRef727,451,599 - 27,451,699UniSTS
CRA_TCAGchr7v2727,622,044 - 27,622,144UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001430749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB050000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF529362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP343005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ051350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA449571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265395   ⟹   ENSP00000265395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl727,525,442 - 27,662,883 (-)Ensembl
Ensembl Acc Id: ENST00000425715   ⟹   ENSP00000390205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl727,531,254 - 27,647,756 (-)Ensembl
Ensembl Acc Id: ENST00000428288   ⟹   ENSP00000393365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl727,525,475 - 27,662,868 (-)Ensembl
Ensembl Acc Id: ENST00000496814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl727,649,224 - 27,662,857 (-)Ensembl
RefSeq Acc Id: NM_001430749   ⟹   NP_001417678
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,525,442 - 27,662,883 (-)NCBI
T2T-CHM13v2.0727,661,820 - 27,799,261 (-)NCBI
RefSeq Acc Id: NM_152740   ⟹   NP_689953
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,525,442 - 27,662,883 (-)NCBI
GRCh37727,565,059 - 27,702,620 (-)RGD
Build 36727,531,586 - 27,669,127 (-)NCBI Archive
Celera727,553,696 - 27,691,196 (-)RGD
HuRef727,445,802 - 27,583,281 (-)RGD
CHM1_1727,565,079 - 27,702,664 (-)NCBI
T2T-CHM13v2.0727,661,820 - 27,799,261 (-)NCBI
CRA_TCAGchr7v2727,616,251 - 27,753,745 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_047419834   ⟹   XP_047275790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,525,442 - 27,648,624 (-)NCBI
RefSeq Acc Id: XM_047419835   ⟹   XP_047275791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,525,442 - 27,647,209 (-)NCBI
RefSeq Acc Id: XM_054357166   ⟹   XP_054213141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0727,661,820 - 27,785,002 (-)NCBI
RefSeq Acc Id: NP_689953   ⟸   NM_152740
- Peptide Label: isoform 1 precursor
- UniProtKB: P31937 (UniProtKB/Swiss-Prot),   Q546Z2 (UniProtKB/Swiss-Prot),   Q9UDN3 (UniProtKB/Swiss-Prot),   A0A024RA75 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000390205   ⟸   ENST00000425715
Ensembl Acc Id: ENSP00000393365   ⟸   ENST00000428288
Ensembl Acc Id: ENSP00000265395   ⟸   ENST00000265395
RefSeq Acc Id: XP_047275790   ⟸   XM_047419834
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047275791   ⟸   XM_047419835
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213141   ⟸   XM_054357166
- Peptide Label: isoform X1
RefSeq Acc Id: NP_001417678   ⟸   NM_001430749
- Peptide Label: isoform 2
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P31937-F1-model_v2 AlphaFold P31937 1-336 view protein structure

Promoters
RGD ID:6805765
Promoter ID:HG_KWN:56710
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000327513
Position:
Human AssemblyChrPosition (strand)Source
Build 36727,653,206 - 27,653,706 (-)MPROMDB
RGD ID:7210215
Promoter ID:EPDNEW_H10854
Type:initiation region
Name:HIBADH_1
Description:3-hydroxyisobutyrate dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10855  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,662,883 - 27,662,943EPDNEW
RGD ID:7210219
Promoter ID:EPDNEW_H10855
Type:initiation region
Name:HIBADH_2
Description:3-hydroxyisobutyrate dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10854  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38727,663,001 - 27,663,061EPDNEW
RGD ID:6805779
Promoter ID:HG_KWN:56712
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000214132,   OTTHUMT00000327512,   UC003SZG.1,   UC003SZH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36727,668,961 - 27,669,907 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4907 AgrOrtholog
COSMIC HIBADH COSMIC
Ensembl Genes ENSG00000106049 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265395 ENTREZGENE
  ENST00000265395.7 UniProtKB/Swiss-Prot
  ENST00000425715.1 UniProtKB/TrEMBL
  ENST00000428288.2 UniProtKB/TrEMBL
Gene3D-CATH N-(1-d-carboxylethyl)-l-norvaline Dehydrogenase, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106049 GTEx
HGNC ID HGNC:4907 ENTREZGENE
Human Proteome Map HIBADH Human Proteome Map
InterPro 3-OH-isobutyrate_DH-rel_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6-PGluconate_DH-like_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6PGD_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6PGDH_NADP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIBADH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HIBADH-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11112 ENTREZGENE
OMIM 608475 OMIM
PANTHER 3-HYDROXYISOBUTYRATE DEHYDROGENASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3-HYDROXYISOBUTYRATE DEHYDROGENASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NAD_binding_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD_binding_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29280 PharmGKB
PIRSF HIBADH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE 3_HYDROXYISOBUT_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48179 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt 3HIDH_HUMAN UniProtKB/Swiss-Prot
  A0A024RA75 ENTREZGENE, UniProtKB/TrEMBL
  F8WET2_HUMAN UniProtKB/TrEMBL
  H7BZL2_HUMAN UniProtKB/TrEMBL
  P31937 ENTREZGENE
  Q546Z2 ENTREZGENE
  Q9UDN3 ENTREZGENE
UniProt Secondary Q546Z2 UniProtKB/Swiss-Prot
  Q9UDN3 UniProtKB/Swiss-Prot