ADH7 (alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide) - Rat Genome Database

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Gene: ADH7 (alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide) Homo sapiens
Analyze
Symbol: ADH7
Name: alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
RGD ID: 737541
HGNC Page HGNC:256
Description: Enables several functions, including alcohol binding activity; aldehyde oxidase activity; and all-trans-retinol dehydrogenase (NAD+) activity. Involved in several processes, including fatty acid omega-oxidation; response to ethanol; and retinoid metabolic process. Located in cytosol and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADH-4; ADH4; alcohol dehydrogenase class 4 mu/sigma chain; alcohol dehydrogenase class IV mu/sigma chain; alcohol dehydrogenase VII; alcohol dehydrogenase-7; all-trans-retinol dehydrogenase [NAD(+)] ADH7; class IV sigma-1 alcohol dehydrogenase; class IV sigmasigma alcohol dehydrogenase; gastric alcohol dehydrogenase; omega-hydroxydecanoate dehydrogenase ADH7; retinol dehydrogenase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
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
GRCh38499,412,263 - 99,435,342 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl499,412,261 - 99,435,510 (-)EnsemblGRCh38hg38GRCh38
GRCh374100,333,420 - 100,356,499 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364100,552,441 - 100,575,548 (-)NCBINCBI36Build 36hg18NCBI36
Build 344100,690,664 - 100,713,668NCBI
Celera497,630,520 - 97,653,769 (-)NCBICelera
Cytogenetic Map4q23NCBI
HuRef496,071,188 - 96,094,437 (-)NCBIHuRef
CHM1_14100,309,868 - 100,333,116 (-)NCBICHM1_1
T2T-CHM13v2.04102,727,019 - 102,750,100 (-)NCBIT2T-CHM13v2.0
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-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-tert-butylhydroquinone  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
7,12-dimethyltetraphene  (ISO)
alachlor  (ISO)
ammonium chloride  (ISO)
andrographolide  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cimetidine  (EXP)
cisplatin  (ISO)
clofibrate  (ISO)
crocidolite asbestos  (ISO)
dibenzofuran  (ISO)
diclofenac  (ISO)
diquat  (ISO)
diuron  (ISO)
doramapimod  (ISO)
endosulfan  (ISO)
ethanol  (EXP)
ethylene glycol  (EXP)
fluoranthene  (ISO)
folic acid  (ISO)
fomepizole  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
GW 4064  (ISO)
hydrogen peroxide  (ISO)
indometacin  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
N-nitrosodiethylamine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentachlorophenol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propan-2-ol  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sulforaphane  (ISO)
tert-butyl hydroperoxide  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
vitamin E  (EXP)
zaragozic acid A  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,TAS)
plasma membrane  (IDA)

Molecular Pathway Annotations     Click to see Annotation Detail View
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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9982   PMID:1592118   PMID:7771649   PMID:7876099   PMID:7876191   PMID:7925371   PMID:8074657   PMID:8082805   PMID:8125298   PMID:8195208   PMID:8824810   PMID:8889548  
PMID:9228021   PMID:9600267   PMID:10631979   PMID:10969996   PMID:11410738   PMID:11997393   PMID:12477932   PMID:14502680   PMID:15028279   PMID:15369820   PMID:15456134   PMID:16180008  
PMID:16344560   PMID:16685648   PMID:16787387   PMID:17185388   PMID:17486761   PMID:17918242   PMID:17921519   PMID:18029348   PMID:18231859   PMID:18331377   PMID:18500343   PMID:19193628  
PMID:19343046   PMID:19609347   PMID:19687126   PMID:19861527   PMID:19874574   PMID:19898482   PMID:20158305   PMID:20336794   PMID:20700531   PMID:20800603   PMID:21145461   PMID:21437268  
PMID:21873635   PMID:23149980   PMID:23314748   PMID:23456092   PMID:23468174   PMID:23568457   PMID:24512552   PMID:24722735   PMID:25527893   PMID:28514442   PMID:28731573   PMID:30292490  
PMID:32388801   PMID:33961781   PMID:34650049   PMID:34732716   PMID:37712142  


Genomics

Comparative Map Data
ADH7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38499,412,263 - 99,435,342 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl499,412,261 - 99,435,510 (-)EnsemblGRCh38hg38GRCh38
GRCh374100,333,420 - 100,356,499 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364100,552,441 - 100,575,548 (-)NCBINCBI36Build 36hg18NCBI36
Build 344100,690,664 - 100,713,668NCBI
Celera497,630,520 - 97,653,769 (-)NCBICelera
Cytogenetic Map4q23NCBI
HuRef496,071,188 - 96,094,437 (-)NCBIHuRef
CHM1_14100,309,868 - 100,333,116 (-)NCBICHM1_1
T2T-CHM13v2.04102,727,019 - 102,750,100 (-)NCBIT2T-CHM13v2.0
Adh7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393137,903,828 - 137,937,803 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3137,923,521 - 137,939,143 (+)EnsemblGRCm39 Ensembl
GRCm383138,198,064 - 138,232,042 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3138,217,760 - 138,233,382 (+)EnsemblGRCm38mm10GRCm38
MGSCv373137,880,737 - 137,895,006 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363138,155,147 - 138,169,421 (+)NCBIMGSCv36mm8
Celera3144,622,819 - 144,637,080 (+)NCBICelera
Cytogenetic Map3G3NCBI
cM Map364.13NCBI
Adh7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82229,422,125 - 229,436,584 (+)NCBIGRCr8
mRatBN7.22226,748,724 - 226,763,183 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2226,741,788 - 226,763,182 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2234,488,227 - 234,502,950 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02232,387,968 - 232,402,692 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02227,252,645 - 227,267,369 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02243,500,540 - 243,516,865 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2243,502,073 - 243,516,532 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02262,043,116 - 262,057,570 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42235,749,346 - 235,765,063 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12235,736,085 - 235,751,803 (+)NCBI
Celera2218,905,199 - 218,919,997 (+)NCBICelera
Cytogenetic Map2q44NCBI
Adh7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554968,065,943 - 8,102,066 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554968,065,943 - 8,100,878 (+)NCBIChiLan1.0ChiLan1.0
ADH7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2397,491,600 - 97,514,798 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1497,775,286 - 97,798,330 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0491,833,111 - 91,856,325 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14102,494,784 - 102,518,215 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4102,494,784 - 102,518,215 (-)Ensemblpanpan1.1panPan2
Adh7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530120,123,644 - 20,148,383 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365203,467,003 - 3,490,997 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365203,467,003 - 3,489,754 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100512795
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8121,020,969 - 121,041,506 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18121,020,683 - 121,041,735 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28130,164,997 - 130,185,238 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADH7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1747,571,477 - 47,592,502 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl747,571,564 - 47,590,593 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603726,040,960 - 26,059,939 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in ADH7
52 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q23(chr4:97972342-100038125)x3 copy number gain See cases [RCV000051632] Chr4:97972342..100038125 [GRCh38]
Chr4:98893493..100959282 [GRCh37]
Chr4:99112516..101178305 [NCBI36]
Chr4:4q23		 uncertain significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
NM_000673.4(ADH7):c.195G>A (p.Val65=) single nucleotide variant Malignant melanoma [RCV000060886] Chr4:99428592 [GRCh38]
Chr4:100349749 [GRCh37]
Chr4:100568772 [NCBI36]
Chr4:4q23		 not provided
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24		 pathogenic
GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1 copy number loss See cases [RCV000140412] Chr4:92610413..101521991 [GRCh38]
Chr4:93531564..102443148 [GRCh37]
Chr4:93750587..102662171 [NCBI36]
Chr4:4q22.1-24		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.23-24(chr4:85805268-103678797)x1 copy number loss See cases [RCV000445741] Chr4:85805268..103678797 [GRCh37]
Chr4:4q21.23-24		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1 copy number loss See cases [RCV000511194] Chr4:92201567..103043808 [GRCh37]
Chr4:4q22.1-24		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_000673.7(ADH7):c.401G>A (p.Gly134Asp) single nucleotide variant not specified [RCV004309349] Chr4:99427936 [GRCh38]
Chr4:100349093 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.934C>T (p.Arg312Cys) single nucleotide variant not specified [RCV004320038] Chr4:99419013 [GRCh38]
Chr4:100340170 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.58C>G (p.Gln20Glu) single nucleotide variant not specified [RCV004307511] Chr4:99429594 [GRCh38]
Chr4:100350751 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q23(chr4:100325630-100365700)x3 copy number gain not provided [RCV000743866] Chr4:100325630..100365700 [GRCh37]
Chr4:4q23		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_000673.7(ADH7):c.476A>G (p.Lys159Arg) single nucleotide variant not specified [RCV004317320] Chr4:99427861 [GRCh38]
Chr4:100349018 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4q23(chr4:100239111-100509321)x3 copy number gain not provided [RCV000847681] Chr4:100239111..100509321 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4q23(chr4:100224894-100482676)x3 copy number gain not provided [RCV000849380] Chr4:100224894..100482676 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4q23(chr4:100224894-100482676)x3 copy number gain not provided [RCV000849382] Chr4:100224894..100482676 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.676A>G (p.Lys226Glu) single nucleotide variant not provided [RCV000956236] Chr4:99420682 [GRCh38]
Chr4:100341839 [GRCh37]
Chr4:4q23		 benign
GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1 copy number loss not provided [RCV001259285] Chr4:94692345..101308220 [GRCh37]
Chr4:4q22.2-24		 likely pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25		 likely pathogenic
NC_000004.11:g.(?_100239320)_(100544005_?)dup duplication not provided [RCV002018710] Chr4:100239320..100544005 [GRCh37]
Chr4:4q23		 uncertain significance
NC_000004.11:g.(?_100239320)_(100528137_?)del deletion not provided [RCV003113682] Chr4:100239320..100528137 [GRCh37]
Chr4:4q23		 pathogenic
NM_000673.7(ADH7):c.874G>A (p.Val292Ile) single nucleotide variant not specified [RCV004236077] Chr4:99419073 [GRCh38]
Chr4:100340230 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.196G>A (p.Val66Met) single nucleotide variant not specified [RCV004146655] Chr4:99428555 [GRCh38]
Chr4:100349712 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.586G>A (p.Val196Ile) single nucleotide variant not specified [RCV004200877] Chr4:99420772 [GRCh38]
Chr4:100341929 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.977A>G (p.Asp326Gly) single nucleotide variant not specified [RCV004230076] Chr4:99415601 [GRCh38]
Chr4:100336758 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.893C>T (p.Ala298Val) single nucleotide variant ADH7-related disorder [RCV004756488]|not specified [RCV004237950] Chr4:99419054 [GRCh38]
Chr4:100340211 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.83A>C (p.Glu28Ala) single nucleotide variant not specified [RCV004154261] Chr4:99429569 [GRCh38]
Chr4:100350726 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.313C>T (p.Arg105Cys) single nucleotide variant not specified [RCV004235229] Chr4:99428121 [GRCh38]
Chr4:100349278 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.207G>C (p.Glu69Asp) single nucleotide variant not specified [RCV004118461] Chr4:99428544 [GRCh38]
Chr4:100349701 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.221T>A (p.Val74Glu) single nucleotide variant not specified [RCV004103529] Chr4:99428530 [GRCh38]
Chr4:100349687 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.1118C>A (p.Thr373Lys) single nucleotide variant not specified [RCV004222356] Chr4:99413155 [GRCh38]
Chr4:100334312 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.521G>A (p.Cys174Tyr) single nucleotide variant not specified [RCV004274770] Chr4:99427816 [GRCh38]
Chr4:100348973 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.771G>A (p.Met257Ile) single nucleotide variant not specified [RCV004323858] Chr4:99420587 [GRCh38]
Chr4:100341744 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1 copy number loss Chromosome 4q21 deletion syndrome [RCV003327709] Chr4:79123548..99457773 [GRCh38]
Chr4:4q21.21-23		 pathogenic
NM_000673.7(ADH7):c.169A>G (p.Thr57Ala) single nucleotide variant not specified [RCV004358876] Chr4:99428582 [GRCh38]
Chr4:100349739 [GRCh37]
Chr4:4q23		 likely benign
NM_000673.7(ADH7):c.119A>C (p.Lys40Thr) single nucleotide variant ADH7-related disorder [RCV003410780] Chr4:99429533 [GRCh38]
Chr4:100350690 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1 copy number loss not specified [RCV003986486] Chr4:99355670..107274288 [GRCh37]
Chr4:4q23-24		 pathogenic
GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1 copy number loss not specified [RCV003986501] Chr4:100172302..107880077 [GRCh37]
Chr4:4q23-25		 pathogenic
NM_000673.7(ADH7):c.113G>A (p.Arg38His) single nucleotide variant ADH7-related disorder [RCV003927289] Chr4:99429539 [GRCh38]
Chr4:100350696 [GRCh37]
Chr4:4q23		 likely benign
NM_000673.7(ADH7):c.359G>A (p.Arg120His) single nucleotide variant ADH7-related disorder [RCV003911494] Chr4:99427978 [GRCh38]
Chr4:100349135 [GRCh37]
Chr4:4q23		 likely benign
NM_000673.7(ADH7):c.120+7G>A single nucleotide variant ADH7-related disorder [RCV003921457] Chr4:99429525 [GRCh38]
Chr4:100350682 [GRCh37]
Chr4:4q23		 likely benign
NM_000673.7(ADH7):c.121-6A>G single nucleotide variant ADH7-related disorder [RCV003914206] Chr4:99428636 [GRCh38]
Chr4:100349793 [GRCh37]
Chr4:4q23		 benign
NM_000673.7(ADH7):c.-4C>T single nucleotide variant ADH7-related disorder [RCV003901429] Chr4:99435237 [GRCh38]
Chr4:100356394 [GRCh37]
Chr4:4q23		 likely benign
NM_000673.7(ADH7):c.474T>C (p.Ala158=) single nucleotide variant ADH7-related disorder [RCV003951719] Chr4:99427863 [GRCh38]
Chr4:100349020 [GRCh37]
Chr4:4q23		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_000673.7(ADH7):c.-35T>C single nucleotide variant ADH7-related disorder [RCV003974491] Chr4:99435268 [GRCh38]
Chr4:100356425 [GRCh37]
Chr4:4q23		 likely benign
NM_000673.7(ADH7):c.558T>C (p.Thr186=) single nucleotide variant ADH7-related disorder [RCV004756806] Chr4:99427779 [GRCh38]
Chr4:100348936 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.99G>A (p.Lys33=) single nucleotide variant ADH7-related disorder [RCV003904483] Chr4:99429553 [GRCh38]
Chr4:100350710 [GRCh37]
Chr4:4q23		 likely benign
NM_000673.7(ADH7):c.338T>A (p.Ile113Asn) single nucleotide variant not specified [RCV004385083] Chr4:99428096 [GRCh38]
Chr4:100349253 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.659T>A (p.Ile220Asn) single nucleotide variant not specified [RCV004385130] Chr4:99420699 [GRCh38]
Chr4:100341856 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.763T>C (p.Ser255Pro) single nucleotide variant not specified [RCV004385132] Chr4:99420595 [GRCh38]
Chr4:100341752 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.868G>A (p.Val290Met) single nucleotide variant not specified [RCV004385147] Chr4:99419079 [GRCh38]
Chr4:100340236 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.479T>C (p.Ile160Thr) single nucleotide variant not specified [RCV004385107] Chr4:99427858 [GRCh38]
Chr4:100349015 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.812A>G (p.His271Arg) single nucleotide variant not specified [RCV004385140] Chr4:99420546 [GRCh38]
Chr4:100341703 [GRCh37]
Chr4:4q23		 likely benign
NM_000673.7(ADH7):c.832G>T (p.Ala278Ser) single nucleotide variant not specified [RCV004385145] Chr4:99419115 [GRCh38]
Chr4:100340272 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.884C>A (p.Pro295His) single nucleotide variant not specified [RCV004385152] Chr4:99419063 [GRCh38]
Chr4:100340220 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.505G>C (p.Val169Leu) single nucleotide variant not specified [RCV004385115] Chr4:99427832 [GRCh38]
Chr4:100348989 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.889T>C (p.Ser297Pro) single nucleotide variant not specified [RCV004385155] Chr4:99419058 [GRCh38]
Chr4:100340215 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.928A>G (p.Thr310Ala) single nucleotide variant not specified [RCV004624187] Chr4:99419019 [GRCh38]
Chr4:100340176 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.71T>C (p.Ile24Thr) single nucleotide variant not specified [RCV004622162] Chr4:99429581 [GRCh38]
Chr4:100350738 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.292T>G (p.Cys98Gly) single nucleotide variant not specified [RCV004622182] Chr4:99428142 [GRCh38]
Chr4:100349299 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.871G>T (p.Val291Phe) single nucleotide variant not specified [RCV004622194] Chr4:99419076 [GRCh38]
Chr4:100340233 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.682A>C (p.Lys228Gln) single nucleotide variant not specified [RCV004624198] Chr4:99420676 [GRCh38]
Chr4:100341833 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.668A>T (p.Asp223Val) single nucleotide variant not specified [RCV004622153] Chr4:99420690 [GRCh38]
Chr4:100341847 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.913C>G (p.Pro305Ala) single nucleotide variant not specified [RCV004622172] Chr4:99419034 [GRCh38]
Chr4:100340191 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.358C>T (p.Arg120Cys) single nucleotide variant ADH7-related disorder [RCV004757003] Chr4:99427979 [GRCh38]
Chr4:100349136 [GRCh37]
Chr4:4q23		 uncertain significance
GRCh37/hg19 4q23(chr4:99769896-100956986)x3 copy number gain not provided [RCV004819482] Chr4:99769896..100956986 [GRCh37]
Chr4:4q23		 uncertain significance
NM_000673.7(ADH7):c.824T>C (p.Met275Thr) single nucleotide variant not specified [RCV004911348] Chr4:99420534 [GRCh38]
Chr4:100341691 [GRCh37]
Chr4:4q23		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:854
Count of miRNA genes:384
Interacting mature miRNAs:408
Transcripts:ENST00000209665, ENST00000437033, ENST00000474027, ENST00000476959, ENST00000482593, ENST00000485660
Prediction methods:Miranda, Rnahybrid, Targetscan
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
597616988GWAS1673848_Hspondylolisthesis QTL GWAS1673848 (human)4e-12spondylolisthesis49941660699416607Human
597271434GWAS1367508_Hresponse to lithium ion QTL GWAS1367508 (human)0.000001response to lithium ion49941718599417186Human
597463252GWAS1559326_Hblood protein measurement QTL GWAS1559326 (human)8e-17blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)49943027999430280Human
597325779GWAS1421853_Hcolor vision disorder QTL GWAS1421853 (human)0.000002color vision disorder49941329299413293Human
407026841GWAS675817_Hupper aerodigestive tract neoplasm QTL GWAS675817 (human)9e-17upper aerodigestive tract neoplasm49942070499420705Human
597106058GWAS1202132_Htotal brain volume change measurement QTL GWAS1202132 (human)0.000002total brain volume change measurement49942943799429438Human

Markers in Region
SHGC-67814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376158,616,765 - 158,616,884UniSTSGRCh37
GRCh374100,348,586 - 100,348,705UniSTSGRCh37
Build 364100,567,609 - 100,567,728RGDNCBI36
Celera6159,264,816 - 159,264,935UniSTS
Celera497,645,688 - 97,645,807RGD
Cytogenetic Map4q23-q24UniSTS
Cytogenetic Map6q25.3UniSTS
HuRef6156,088,120 - 156,088,239UniSTS
HuRef496,086,356 - 96,086,475UniSTS
SHGC-149343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374100,333,278 - 100,333,570UniSTSGRCh37
Build 364100,552,301 - 100,552,593RGDNCBI36
Celera497,630,380 - 97,630,672RGD
Cytogenetic Map4q23-q24UniSTS
HuRef496,071,048 - 96,071,340UniSTS
TNG Radiation Hybrid Map460591.0UniSTS
SHGC-12015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374100,334,114 - 100,334,291UniSTSGRCh37
Build 364100,553,137 - 100,553,314RGDNCBI36
Celera497,631,216 - 97,631,393RGD
Cytogenetic Map4q23-q24UniSTS
HuRef496,071,884 - 96,072,061UniSTS
TNG Radiation Hybrid Map460621.0UniSTS
STS1AA  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374100,356,344 - 100,356,586UniSTSGRCh37
Build 364100,575,367 - 100,575,609RGDNCBI36
Celera497,653,446 - 97,653,688RGD
Cytogenetic Map4q23-q24UniSTS
HuRef496,094,114 - 96,094,356UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1000 1627 1791 1304 2383 980 1416 494 548 337 1834 3446 3630 3 1350 422 1146 909 161 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH006682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX476080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA311897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD014081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD697521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB204496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB350054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L33179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L42343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U09623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X76342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000209665   ⟹   ENSP00000209665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl499,412,261 - 99,435,510 (-)Ensembl
Ensembl Acc Id: ENST00000437033   ⟹   ENSP00000414254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl499,412,263 - 99,435,342 (-)Ensembl
Ensembl Acc Id: ENST00000474027   ⟹   ENSP00000420300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl499,427,843 - 99,430,291 (-)Ensembl
Ensembl Acc Id: ENST00000476959   ⟹   ENSP00000420269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl499,413,038 - 99,435,134 (-)Ensembl
Ensembl Acc Id: ENST00000482593   ⟹   ENSP00000420613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl499,413,006 - 99,435,273 (-)Ensembl
Ensembl Acc Id: ENST00000485660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl499,413,014 - 99,415,874 (-)Ensembl
RefSeq Acc Id: NM_000673   ⟹   NP_000664
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38499,412,263 - 99,435,342 (-)NCBI
GRCh374100,333,418 - 100,356,667 (-)ENTREZGENE
Build 364100,552,441 - 100,575,548 (-)NCBI Archive
HuRef496,071,188 - 96,094,437 (-)ENTREZGENE
CHM1_14100,309,868 - 100,333,116 (-)NCBI
T2T-CHM13v2.04102,727,019 - 102,750,100 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001166504   ⟹   NP_001159976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38499,412,263 - 99,435,134 (-)NCBI
GRCh374100,333,418 - 100,356,667 (-)ENTREZGENE
HuRef496,071,188 - 96,094,437 (-)ENTREZGENE
CHM1_14100,309,868 - 100,332,740 (-)NCBI
T2T-CHM13v2.04102,727,019 - 102,749,892 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000664   ⟸   NM_000673
- Peptide Label: isoform 2
- UniProtKB: A0A0C4DG85 (UniProtKB/TrEMBL),   E9PFG0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159976   ⟸   NM_001166504
- Peptide Label: isoform 1
- UniProtKB: E9PFG0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000420613   ⟸   ENST00000482593
Ensembl Acc Id: ENSP00000209665   ⟸   ENST00000209665
Ensembl Acc Id: ENSP00000420300   ⟸   ENST00000474027
Ensembl Acc Id: ENSP00000414254   ⟸   ENST00000437033
Ensembl Acc Id: ENSP00000420269   ⟸   ENST00000476959
Protein Domains
Alcohol dehydrogenase-like C-terminal   Alcohol dehydrogenase-like N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P40394-F1-model_v2 AlphaFold P40394 1-386 view protein structure

Promoters
RGD ID:6868098
Promoter ID:EPDNEW_H7214
Type:initiation region
Name:ADH7_1
Description:alcohol dehydrogenase 7 , mu or sigma polypeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7215  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38499,435,304 - 99,435,364EPDNEW
RGD ID:6868100
Promoter ID:EPDNEW_H7215
Type:single initiation site
Name:ADH7_2
Description:alcohol dehydrogenase 7 , mu or sigma polypeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7214  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38499,435,693 - 99,435,753EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:256 AgrOrtholog
COSMIC ADH7 COSMIC
Ensembl Genes ENSG00000196344 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000209665.8 UniProtKB/Swiss-Prot
  ENST00000437033 ENTREZGENE
  ENST00000437033.7 UniProtKB/TrEMBL
  ENST00000474027.1 UniProtKB/TrEMBL
  ENST00000476959 ENTREZGENE
  ENST00000476959.5 UniProtKB/Swiss-Prot
  ENST00000482593.5 UniProtKB/TrEMBL
Gene3D-CATH Medium-chain alcohol dehydrogenases, catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196344 GTEx
HGNC ID HGNC:256 ENTREZGENE
Human Proteome Map ADH7 Human Proteome Map
InterPro ADH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADH_Zn_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroES-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:131 UniProtKB/Swiss-Prot
NCBI Gene 131 ENTREZGENE
OMIM 600086 OMIM
PANTHER ALCOHOL DEHYDROGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43880:SF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ADH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADH_zinc_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ADH7 RGD, PharmGKB
PROSITE ADH_ZINC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DG85 ENTREZGENE, UniProtKB/TrEMBL
  ADH7_HUMAN UniProtKB/Swiss-Prot
  C9JP14_HUMAN UniProtKB/TrEMBL
  E9PFG0 ENTREZGENE, UniProtKB/TrEMBL
  P40394 ENTREZGENE
UniProt Secondary A2RRB6 UniProtKB/Swiss-Prot
  A8MVN9 UniProtKB/Swiss-Prot
  B2R760 UniProtKB/Swiss-Prot
  B4DWV6 UniProtKB/Swiss-Prot
  Q13713 UniProtKB/Swiss-Prot