HDAC4 (histone deacetylase 4) - Rat Genome Database
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Gene: HDAC4 (histone deacetylase 4) Homo sapiens
Analyze
Symbol: HDAC4
Name: histone deacetylase 4
RGD ID: 1316832
HGNC Page HGNC
Description: Exhibits several functions, including histone deacetylase binding activity; metal ion binding activity; and transcription factor binding activity. Contributes to transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including positive regulation of protein sumoylation; protein deacetylation; and regulation of transcription, DNA-templated. Localizes to cytosol; nucleoplasm; and transcription repressor complex. Implicated in ataxia telangiectasia; chromosome 2q37 deletion syndrome; eating disorder; and retinal degeneration. Biomarker of several diseases, including artery disease (multiple); hepatocellular carcinoma; impotence; neurodegenerative disease (multiple); and obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AHO3; BDMR; brachydactyly-mental retardation syndrome; HA6116; HD4; HDAC-4; HDAC-A; HDACA; histone deacetylase A; KIAA0288
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2239,048,168 - 239,401,654 (-)EnsemblGRCh38hg38GRCh38
GRCh382239,048,168 - 239,401,649 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372239,969,864 - 240,323,343 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh372239,969,864 - 240,323,346 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362239,634,801 - 239,987,580 (-)NCBINCBI36hg18NCBI36
Build 342239,706,635 - 240,058,897NCBI
Celera2233,665,663 - 234,017,808 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2231,741,321 - 232,092,211 (-)NCBIHuRef
CHM1_12239,975,706 - 240,328,679 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (EXP)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bortezomib  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
curcumin  (EXP,ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
endosulfan  (EXP,ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fluoranthene  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
indole-3-methanol  (ISO)
manganese(II) chloride  (EXP,ISO)
MC1568  (EXP,ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP,ISO)
mitoxantrone  (EXP)
N-acetyl-1,4-benzoquinone imine  (EXP)
nicotine  (ISO)
nifedipine  (ISO)
O-methyleugenol  (EXP)
paclitaxel  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pelargonidin  (ISO)
phenylmercury acetate  (EXP)
quercetin  (EXP)
SB 431542  (EXP)
sodium arsenite  (ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
tauroursodeoxycholic acid  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP,ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)
vecuronium bromide  (ISO)
vinclozolin  (ISO)
vincristine  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
B cell activation  (TAS)
B cell differentiation  (TAS)
cardiac muscle hypertrophy in response to stress  (TAS)
cellular response to mechanical stimulus  (IEA,ISO)
cellular response to parathyroid hormone stimulus  (IEA,ISO)
cellular response to tumor necrosis factor  (IEA,ISO)
chromatin remodeling  (IDA)
histone deacetylation  (IDA,IMP)
histone H3 deacetylation  (IDA,IEA)
histone H4 deacetylation  (IDA)
inflammatory response  (TAS)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of DNA-binding transcription factor activity  (IMP)
negative regulation of glycolytic process  (ISO,ISS)
negative regulation of myotube differentiation  (IMP)
negative regulation of osteoblast differentiation  (IEA,ISO)
negative regulation of pri-miRNA transcription by RNA polymerase II  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IDA,IGI,IMP,ISO)
negative regulation of transcription, DNA-templated  (IDA,IMP,ISO)
nervous system development  (TAS)
osteoblast development  (IEA,ISO)
peptidyl-lysine deacetylation  (IDA)
positive regulation of cell population proliferation  (IMP)
positive regulation of DNA-binding transcription factor activity  (IMP)
positive regulation of lamellipodium assembly  (IEA,ISO)
positive regulation of male mating behavior  (IEA,ISO)
positive regulation of neuron apoptotic process  (IEA,ISO)
positive regulation of protein sumoylation  (IDA)
positive regulation of reactive oxygen species biosynthetic process  (IEA,ISO)
positive regulation of smooth muscle cell migration  (IEA,ISO)
positive regulation of smooth muscle cell proliferation  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IMP,ISO,ISS)
positive regulation of transcription, DNA-templated  (ISO,ISS)
protein deacetylation  (IDA)
protein sumoylation  (IEA)
regulation of cardiac muscle contraction by calcium ion signaling  (IEA,ISO)
regulation of gene expression, epigenetic  (IMP)
regulation of protein binding  (IMP)
regulation of skeletal muscle fiber development  (IEA,ISO)
regulation of striated muscle cell differentiation  (ISO)
response to denervation involved in regulation of muscle adaptation  (ISO,ISS)
response to drug  (IEA,ISO)
response to interleukin-1  (IMP)
skeletal system development  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic morphology  (IAGP)
Aggressive behavior  (IAGP)
Anteverted nares  (IAGP)
Arrhythmia  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Blepharophimosis  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad columella  (IAGP)
Broad face  (IAGP)
Broad nasal tip  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarse facial features  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Deeply set eye  (IAGP)
Depressed nasal bridge  (IAGP)
Downturned corners of mouth  (IAGP)
Eczema  (IAGP)
Finger syndactyly  (IAGP)
Frontal bossing  (IAGP)
Global developmental delay  (IAGP)
Highly arched eyebrow  (IAGP)
Hyperactivity  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Joint hyperflexibility  (IAGP)
Laryngomalacia  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Microcephaly  (IAGP)
Midface retrusion  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Narrow palpebral fissure  (IAGP)
Nephroblastoma  (IAGP)
Obesity  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Pain insensitivity  (IAGP)
Pyloric stenosis  (IAGP)
Round face  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short foot  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short neck  (IAGP)
Short palm  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Sleep disturbance  (IAGP)
Small hand  (IAGP)
Somatic mutation  (IAGP)
Sparse and thin eyebrow  (IAGP)
Sparse scalp hair  (IAGP)
Stereotypy  (IAGP)
Subvalvular aortic stenosis  (IAGP)
Supernumerary nipple  (IAGP)
Thin vermilion border  (IAGP)
Toe syndactyly  (IAGP)
Tracheomalacia  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nose  (IAGP)
References

References - curated
1. Abu-Farha M, etal., PLoS One. 2013 Sep 24;8(9):e75342. doi: 10.1371/journal.pone.0075342. eCollection 2013.
2. Bers DM Heart Rhythm. 2011 Jul;8(7):1101-4. doi: 10.1016/j.hrthm.2011.01.030. Epub 2011 Jan 18.
3. Bricceno KV, etal., Hum Mol Genet. 2012 Oct 15;21(20):4448-59. Epub 2012 Jul 13.
4. Bruneteau G, etal., Brain. 2013 Aug;136(Pt 8):2359-68. doi: 10.1093/brain/awt164. Epub 2013 Jul 3.
5. Chen B and Cepko CL, Science. 2009 Jan 9;323(5911):256-9. doi: 10.1126/science.1166226.
6. Cui H, etal., J Clin Invest. 2013 Nov 1;123(11):4706-13.
7. Fang J, etal., Neurol Sci. 2014 Feb;35(2):283-8. doi: 10.1007/s10072-013-1508-4. Epub 2013 Aug 8.
8. GOA_HUMAN data from the GO Consortium
9. Gordon JW, etal., J Biol Chem. 2009 Jul 10;284(28):19027-42. doi: 10.1074/jbc.M109.000539. Epub 2009 Apr 23.
10. Gruhn B, etal., Leuk Res. 2013 Oct;37(10):1200-7. doi: 10.1016/j.leukres.2013.07.016. Epub 2013 Aug 12.
11. Hannan JL, etal., J Sex Med. 2014 Jun;11(6):1442-51. doi: 10.1111/jsm.12522. Epub 2014 Mar 18.
12. He M, etal., J Cell Mol Med. 2013 Apr;17(4):531-42. doi: 10.1111/jcmm.12040. Epub 2013 Mar 11.
13. Kassis H, etal., Neurochem Int. 2014 Nov;77:17-23. doi: 10.1016/j.neuint.2014.03.006. Epub 2014 Mar 19.
14. Li J, etal., Nat Med. 2012 May;18(5):783-90. doi: 10.1038/nm.2709.
15. Noh H, etal., Am J Physiol Renal Physiol. 2009 Sep;297(3):F729-39. doi: 10.1152/ajprenal.00086.2009. Epub 2009 Jun 24.
16. OMIM Disease Annotation Pipeline
17. Peserico A and Simone C, J Biomed Biotechnol. 2011;2011:371832. doi: 10.1155/2011/371832. Epub 2010 Dec 5.
18. Rajan I, etal., PLoS One. 2009 Aug 12;4(8):e6612. doi: 10.1371/journal.pone.0006612.
19. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. RGD automated import pipeline for gene-chemical interactions
21. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Wang X, etal., Kidney Int. 2014 Oct;86(4):712-25. doi: 10.1038/ki.2014.111. Epub 2014 Apr 9.
23. Yuan JH, etal., Hepatology. 2011 Dec;54(6):2025-35. doi: 10.1002/hep.24606.
24. Zhao L, etal., Circulation. 2012 Jul 24;126(4):455-67. doi: 10.1161/CIRCULATIONAHA.112.103176. Epub 2012 Jun 18.
Additional References at PubMed
PMID:7847374   PMID:8619474   PMID:9110174   PMID:9139815   PMID:9150131   PMID:9179496   PMID:10206986   PMID:10220385   PMID:10487761   PMID:10523670   PMID:10640275   PMID:10748098  
PMID:10825153   PMID:10860984   PMID:10869435   PMID:10898795   PMID:10944117   PMID:10958686   PMID:10983972   PMID:11022042   PMID:11081517   PMID:11114188   PMID:11114197   PMID:11279209  
PMID:11451954   PMID:11463856   PMID:11466315   PMID:11470791   PMID:11474199   PMID:11486037   PMID:11504882   PMID:11509652   PMID:11509672   PMID:11568182   PMID:11792813   PMID:11804585  
PMID:11929873   PMID:12015313   PMID:12032081   PMID:12205093   PMID:12242305   PMID:12421765   PMID:12477932   PMID:12535528   PMID:12590135   PMID:12663674   PMID:12668657   PMID:12709441  
PMID:12711221   PMID:12917325   PMID:12943985   PMID:14668799   PMID:14744259   PMID:15075374   PMID:15138260   PMID:15161933   PMID:15184363   PMID:15194749   PMID:15205465   PMID:15280364  
PMID:15324660   PMID:15467736   PMID:15536134   PMID:15537544   PMID:15619633   PMID:15743821   PMID:15778465   PMID:15829968   PMID:15964851   PMID:15990875   PMID:16033423   PMID:16051668  
PMID:16061479   PMID:16082198   PMID:16147992   PMID:16166628   PMID:16204248   PMID:16221676   PMID:16236793   PMID:16288017   PMID:16332688   PMID:16356933   PMID:16415175   PMID:16528103  
PMID:16613856   PMID:16767219   PMID:16919237   PMID:16922677   PMID:16951198   PMID:16980613   PMID:17011572   PMID:17158926   PMID:17159145   PMID:17179159   PMID:17210713   PMID:17218271  
PMID:17283066   PMID:17353931   PMID:17360518   PMID:17371797   PMID:17373667   PMID:17379597   PMID:17383980   PMID:17470459   PMID:17491593   PMID:17610967   PMID:17636017   PMID:17646162  
PMID:17696781   PMID:17885209   PMID:17910034   PMID:17949687   PMID:17975112   PMID:17979178   PMID:18045992   PMID:18163532   PMID:18227124   PMID:18250163   PMID:18332106   PMID:18339811  
PMID:18501190   PMID:18555775   PMID:18558095   PMID:18614528   PMID:18632985   PMID:18691969   PMID:18780762   PMID:18850004   PMID:18952052   PMID:19013255   PMID:19015268   PMID:19071119  
PMID:19115247   PMID:19218564   PMID:19251700   PMID:19276356   PMID:19281832   PMID:19322201   PMID:19355988   PMID:19509297   PMID:19608861   PMID:19648967   PMID:19679847   PMID:19700647  
PMID:19716643   PMID:19893013   PMID:19913121   PMID:19950203   PMID:19956841   PMID:20079608   PMID:20097749   PMID:20110259   PMID:20116378   PMID:20159555   PMID:20211142   PMID:20301337  
PMID:20383178   PMID:20471694   PMID:20628086   PMID:20691407   PMID:20846395   PMID:20936779   PMID:21118993   PMID:21148070   PMID:21242980   PMID:21244100   PMID:21464227   PMID:21542139  
PMID:21571862   PMID:21605119   PMID:21832049   PMID:21917920   PMID:21946350   PMID:21988832   PMID:22649097   PMID:22693459   PMID:22700976   PMID:22730529   PMID:22826225   PMID:22989952  
PMID:23149916   PMID:23188045   PMID:23284291   PMID:23297420   PMID:23349832   PMID:23364788   PMID:23393134   PMID:23417673   PMID:23434587   PMID:23444366   PMID:23453885   PMID:23456936  
PMID:23752268   PMID:23817620   PMID:23867755   PMID:24043307   PMID:24079712   PMID:24229708   PMID:24255178   PMID:24308964   PMID:24413532   PMID:24579951   PMID:24715439   PMID:24830600  
PMID:24861260   PMID:24896240   PMID:25042803   PMID:25091122   PMID:25103231   PMID:25329715   PMID:25416956   PMID:25424126   PMID:25504437   PMID:25515592   PMID:25612003   PMID:25752541  
PMID:26019235   PMID:26161557   PMID:26206152   PMID:26305553   PMID:26414199   PMID:26437241   PMID:26455434   PMID:26496610   PMID:26502922   PMID:26540094   PMID:26568966   PMID:26572940  
PMID:26619800   PMID:27106144   PMID:27150631   PMID:27173435   PMID:27181711   PMID:27196750   PMID:27295551   PMID:27333946   PMID:27485016   PMID:27488535   PMID:27624383   PMID:27660204  
PMID:27684187   PMID:27708256   PMID:27766571   PMID:28007904   PMID:28085114   PMID:28319066   PMID:28336812   PMID:28342984   PMID:28419090   PMID:28514442   PMID:28588072   PMID:28611215  
PMID:28749131   PMID:28884332   PMID:28986522   PMID:29039602   PMID:29256967   PMID:29507755   PMID:29797594   PMID:29880327   PMID:29886060   PMID:29893594   PMID:30021884   PMID:30094957  
PMID:30106218   PMID:30208931   PMID:30226605   PMID:30272277   PMID:30284520   PMID:30287865   PMID:30315623   PMID:30321390   PMID:30503143   PMID:30661366   PMID:30684894   PMID:30842339  
PMID:30867818   PMID:30963560   PMID:30968599   PMID:31028063   PMID:31040226   PMID:31067491   PMID:31111043   PMID:31127039   PMID:31248594   PMID:31492495   PMID:31595884   PMID:31742248  
PMID:31754707   PMID:31757810   PMID:31784580   PMID:31914654   PMID:32296183  


Genomics

Comparative Map Data
HDAC4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2239,048,168 - 239,401,654 (-)EnsemblGRCh38hg38GRCh38
GRCh382239,048,168 - 239,401,649 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372239,969,864 - 240,323,343 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh372239,969,864 - 240,323,346 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362239,634,801 - 239,987,580 (-)NCBINCBI36hg18NCBI36
Build 342239,706,635 - 240,058,897NCBI
Celera2233,665,663 - 234,017,808 (-)NCBI
Cytogenetic Map2q37.3NCBI
HuRef2231,741,321 - 232,092,211 (-)NCBIHuRef
CHM1_12239,975,706 - 240,328,679 (-)NCBICHM1_1
Hdac4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39191,856,501 - 92,123,424 (-)NCBIGRCm39mm39
GRCm38191,928,779 - 92,195,702 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl191,928,779 - 92,195,699 (-)EnsemblGRCm38mm10GRCm38
MGSCv37193,829,311 - 94,044,970 (-)NCBIGRCm37mm9NCBIm37
MGSCv36193,763,140 - 93,978,799 (-)NCBImm8
Celera194,870,648 - 95,086,759 (-)NCBICelera
Cytogenetic Map1DNCBI
Hdac4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2992,503,467 - 92,750,164 (-)NCBI
Rnor_6.0 Ensembl999,057,089 - 99,299,715 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0999,052,945 - 99,299,715 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0998,727,262 - 98,973,829 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4991,147,435 - 91,389,810 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1991,421,635 - 91,447,796 (+)NCBI
Celera990,047,090 - 90,289,214 (-)NCBICelera
Cytogenetic Map9q36NCBI
Hdac4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555421,629,691 - 1,886,210 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555421,629,691 - 1,886,160 (+)NCBIChiLan1.0ChiLan1.0
HDAC4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B245,123,061 - 245,428,441 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B245,123,061 - 245,427,054 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B126,287,745 - 126,649,815 (-)NCBIMhudiblu_PPA_v0panPan3
HDAC4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2549,317,349 - 49,453,478 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12549,318,621 - 49,545,314 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Hdac4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049367451,730,743 - 1,942,071 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HDAC4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15138,381,627 - 138,614,301 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115138,378,237 - 138,657,266 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215152,920,983 - 153,035,106 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HDAC4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110125,098,375 - 125,450,524 (-)NCBI
ChlSab1.1 Ensembl10125,098,366 - 125,403,227 (-)Ensembl
Hdac4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248473,846,196 - 4,101,537 (-)NCBI

Position Markers
RH98233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,089,587 - 240,089,777UniSTSGRCh37
Build 362239,754,524 - 239,754,714RGDNCBI36
Celera2233,785,053 - 233,785,243RGD
Cytogenetic Map2q37.3UniSTS
HuRef2231,861,067 - 231,861,257UniSTS
GeneMap99-GB4 RH Map2741.25UniSTS
G43575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,970,394 - 239,970,526UniSTSGRCh37
Build 362239,635,331 - 239,635,463RGDNCBI36
Celera2233,666,193 - 233,666,325RGD
Cytogenetic Map2q37.3UniSTS
HuRef2231,741,851 - 231,741,983UniSTS
RH121548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,143,946 - 240,144,228UniSTSGRCh37
Build 362239,808,883 - 239,809,165RGDNCBI36
Celera2233,839,358 - 233,839,640RGD
Cytogenetic Map2q37.3UniSTS
HuRef2231,915,306 - 231,915,588UniSTS
TNG Radiation Hybrid Map2133046.0UniSTS
D2S1512E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,971,232 - 239,971,325UniSTSGRCh37
Build 362239,636,169 - 239,636,262RGDNCBI36
Celera2233,667,031 - 233,667,124RGD
Cytogenetic Map2q37.3UniSTS
HuRef2231,742,689 - 231,742,782UniSTS
SHGC-112006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,093,643 - 240,093,987UniSTSGRCh37
Build 362239,758,580 - 239,758,924RGDNCBI36
Celera2233,789,109 - 233,789,453RGD
Cytogenetic Map2q37.3UniSTS
HuRef2231,865,123 - 231,865,467UniSTS
TNG Radiation Hybrid Map2133091.0UniSTS
G65562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372240,223,472 - 240,223,639UniSTSGRCh37
Build 362239,888,409 - 239,888,576RGDNCBI36
Celera2233,918,624 - 233,918,791RGD
Cytogenetic Map2q37.3UniSTS
HuRef2231,994,244 - 231,994,411UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoWestern blot//Luciferase reporter assayFunctional MTI18818206
MIR1-1hsa-miR-1Mirtarbaseexternal_infoWestern blotFunctional MTI18593903
MIR1-1hsa-miR-1Mirecordsexternal_infoNANA18818206
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23478036
MIR140hsa-miR-140-5pMirtarbaseexternal_infoqRT-PCR//Western blot//Luciferase reporter assayFunctional MTI19734943
MIR140hsa-miR-140-5pMirecordsexternal_infoNANA19734943
MIR140hsa-miR-140-3pOncomiRDBexternal_infoNANA19734943
MIR200Ahsa-miR-200a-3pOncomiRDBexternal_infoNANA21837748
MIR22hsa-miR-22-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20842113
MIR22hsa-miR-22-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23349832
MIR22hsa-miR-22-3pOncomiRDBexternal_infoNANA20842113
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23478036
MIR155hsa-miR-155-5pOncomiRDBexternal_infoNANA23169640

Predicted Target Of
Summary Value
Count of predictions:6299
Count of miRNA genes:1422
Interacting mature miRNAs:1928
Transcripts:ENST00000345617, ENST00000430200, ENST00000445704, ENST00000446876, ENST00000454542, ENST00000460235, ENST00000461113, ENST00000463007, ENST00000487617, ENST00000493582, ENST00000494800, ENST00000495497, ENST00000496347, ENST00000535493, ENST00000541256, ENST00000543185, ENST00000544989, ENST00000553145
Prediction methods:Microtar, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1675 504 393 12 537 7 1822 1637 1277 42 822 320 7 73 1580
Low 760 2475 1320 602 1405 449 2533 551 2431 371 626 1288 165 1131 1208 4 1
Below cutoff 2 6 11 9 6 9 6 4 5 6 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC017028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC062017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF132607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI199675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI654062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ576173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000345617   ⟹   ENSP00000264606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,048,168 - 239,400,949 (-)Ensembl
RefSeq Acc Id: ENST00000430200   ⟹   ENSP00000410551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,053,046 - 239,066,981 (-)Ensembl
RefSeq Acc Id: ENST00000445704   ⟹   ENSP00000391226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,134,325 - 239,140,973 (-)Ensembl
RefSeq Acc Id: ENST00000446876   ⟹   ENSP00000392912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,176,453 - 239,309,212 (-)Ensembl
RefSeq Acc Id: ENST00000454542   ⟹   ENSP00000405226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,163,833 - 239,191,056 (-)Ensembl
RefSeq Acc Id: ENST00000460235
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,102,609 - 239,108,104 (-)Ensembl
RefSeq Acc Id: ENST00000461113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,126,633 - 239,155,013 (-)Ensembl
RefSeq Acc Id: ENST00000463007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,089,676 - 239,298,639 (-)Ensembl
RefSeq Acc Id: ENST00000487617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,080,918 - 239,108,053 (-)Ensembl
RefSeq Acc Id: ENST00000493582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,094,574 - 239,401,654 (-)Ensembl
RefSeq Acc Id: ENST00000494800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,055,184 - 239,081,135 (-)Ensembl
RefSeq Acc Id: ENST00000495497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,091,144 - 239,102,841 (-)Ensembl
RefSeq Acc Id: ENST00000496347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,186,488 - 239,236,669 (-)Ensembl
RefSeq Acc Id: ENST00000535493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,094,890 - 239,298,530 (-)Ensembl
RefSeq Acc Id: ENST00000543185   ⟹   ENSP00000440481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,048,169 - 239,400,949 (-)Ensembl
RefSeq Acc Id: ENST00000544989   ⟹   ENSP00000438111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,236,598 - 239,401,011 (-)Ensembl
RefSeq Acc Id: ENST00000553145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2239,134,349 - 239,155,575 (-)Ensembl
RefSeq Acc Id: NM_001378414   ⟹   NP_001365343
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,401,020 (-)NCBI
RefSeq Acc Id: NM_001378415   ⟹   NP_001365344
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,401,649 (-)NCBI
RefSeq Acc Id: NM_001378416   ⟹   NP_001365345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,401,020 (-)NCBI
RefSeq Acc Id: NM_001378417   ⟹   NP_001365346
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,401,649 (-)NCBI
RefSeq Acc Id: NM_006037   ⟹   NP_006028
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,401,020 (-)NCBI
GRCh372239,969,864 - 240,323,346 (-)NCBI
Build 362239,634,801 - 239,987,580 (-)NCBI Archive
HuRef2231,741,321 - 232,092,211 (-)NCBI
CHM1_12239,975,706 - 240,328,679 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712877   ⟹   XP_006712940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,315,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712879   ⟹   XP_006712942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,315,298 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712880   ⟹   XP_006712943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,315,298 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512217   ⟹   XP_011510519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,315,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512218   ⟹   XP_011510520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,315,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512219   ⟹   XP_011510521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,315,299 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512220   ⟹   XP_011510522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,308,633 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512222   ⟹   XP_011510524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,400,418 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512223   ⟹   XP_011510525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,400,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512224   ⟹   XP_011510526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,298,855 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512225   ⟹   XP_011510527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,298,855 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512226   ⟹   XP_011510528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,401,055 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512227   ⟹   XP_011510529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,231,273 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512230   ⟹   XP_011510532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,155,013 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005394   ⟹   XP_016860883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,315,300 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005395   ⟹   XP_016860884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,175,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453257   ⟹   XP_024309025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 239,269,177 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001365343 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365344 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365345 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365346 (Get FASTA)   NCBI Sequence Viewer  
  NP_006028 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712940 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712942 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712943 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510519 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510520 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510521 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510522 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510524 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510525 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510526 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510527 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510528 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510529 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510532 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860883 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860884 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309025 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD29046 (Get FASTA)   NCBI Sequence Viewer  
  AAH39904 (Get FASTA)   NCBI Sequence Viewer  
  AAX93070 (Get FASTA)   NCBI Sequence Viewer  
  AAX93254 (Get FASTA)   NCBI Sequence Viewer  
  BAA22957 (Get FASTA)   NCBI Sequence Viewer  
  BAH13789 (Get FASTA)   NCBI Sequence Viewer  
  BAH13951 (Get FASTA)   NCBI Sequence Viewer  
  BAH13968 (Get FASTA)   NCBI Sequence Viewer  
  BAH13999 (Get FASTA)   NCBI Sequence Viewer  
  EAW71165 (Get FASTA)   NCBI Sequence Viewer  
  EAW71166 (Get FASTA)   NCBI Sequence Viewer  
  P56524 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_006028   ⟸   NM_006037
- Peptide Label: isoform 2
- UniProtKB: P56524 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712940   ⟸   XM_006712877
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006712942   ⟸   XM_006712879
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_006712943   ⟸   XM_006712880
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011510528   ⟸   XM_011512226
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011510525   ⟸   XM_011512223
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011510524   ⟸   XM_011512222
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011510521   ⟸   XM_011512219
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011510520   ⟸   XM_011512218
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011510519   ⟸   XM_011512217
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011510522   ⟸   XM_011512220
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011510527   ⟸   XM_011512225
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011510526   ⟸   XM_011512224
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011510529   ⟸   XM_011512227
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_011510532   ⟸   XM_011512230
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_016860883   ⟸   XM_017005394
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016860884   ⟸   XM_017005395
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_024309025   ⟸   XM_024453257
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: NP_001365346   ⟸   NM_001378417
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001365344   ⟸   NM_001378415
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001365345   ⟸   NM_001378416
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001365343   ⟸   NM_001378414
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000264606   ⟸   ENST00000345617
RefSeq Acc Id: ENSP00000440481   ⟸   ENST00000543185
RefSeq Acc Id: ENSP00000438111   ⟸   ENST00000544989
RefSeq Acc Id: ENSP00000405226   ⟸   ENST00000454542
RefSeq Acc Id: ENSP00000410551   ⟸   ENST00000430200
RefSeq Acc Id: ENSP00000391226   ⟸   ENST00000445704
RefSeq Acc Id: ENSP00000392912   ⟸   ENST00000446876
Protein Domains
HDAC4_Gln

Promoters
RGD ID:6863286
Promoter ID:EPDNEW_H4808
Type:multiple initiation site
Name:HDAC4_3
Description:histone deacetylase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4809  EPDNEW_H4810  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,399,987 - 239,400,047EPDNEW
RGD ID:6863288
Promoter ID:EPDNEW_H4809
Type:initiation region
Name:HDAC4_1
Description:histone deacetylase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4808  EPDNEW_H4810  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,401,020 - 239,401,080EPDNEW
RGD ID:6863290
Promoter ID:EPDNEW_H4810
Type:multiple initiation site
Name:HDAC4_2
Description:histone deacetylase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4808  EPDNEW_H4809  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382239,401,649 - 239,401,709EPDNEW
RGD ID:6797558
Promoter ID:HG_KWN:38057
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Jurkat,   NB4
Transcripts:OTTHUMT00000326181
Position:
Human AssemblyChrPosition (strand)Source
Build 362239,884,906 - 239,885,406 (-)MPROMDB
RGD ID:6797560
Promoter ID:HG_KWN:38059
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_006037,   OTTHUMT00000326179,   OTTHUMT00000326180
Position:
Human AssemblyChrPosition (strand)Source
Build 362239,987,121 - 239,989,267 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006037.3(HDAC4):c.2135del (p.Gln712fs) deletion not provided [RCV000520499] Chr2:239102859 [GRCh38]
Chr2:240024555 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.2613C>G (p.Phe871Leu) single nucleotide variant not provided [RCV000519266] Chr2:239082126 [GRCh38]
Chr2:240003822 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_006037.3(HDAC4):c.3109_3110insT (p.Thr1037fs) insertion not provided [RCV000523578] Chr2:239053565..239053566 [GRCh38]
Chr2:239975261..239975262 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.2399dup (p.Gly801fs) duplication Chromosome 2q37 deletion syndrome [RCV000005373] Chr2:239087588..239087589 [GRCh38]
Chr2:240009284..240009285 [GRCh37]
Chr2:2q37.3
pathogenic|uncertain significance
HDAC4, 65-BP DEL, NT490+56 deletion Chromosome 2q37 deletion syndrome [RCV000005374] Chr2:2q37.2 pathogenic|uncertain significance
NM_006037.3(HDAC4):c.1443C>T (p.Val481=) single nucleotide variant not provided [RCV000727899] Chr2:239126531 [GRCh38]
Chr2:240048227 [GRCh37]
Chr2:2q37.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006037.3(HDAC4):c.617C>T (p.Thr206Met) single nucleotide variant not provided [RCV000520668] Chr2:239156768 [GRCh38]
Chr2:240078464 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.491-514C>G single nucleotide variant Lung cancer [RCV000091966] Chr2:239164437 [GRCh38]
Chr2:240086133 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
NM_001378414.1(HDAC4):c.340-9C>T single nucleotide variant not provided [RCV001196590] Chr2:239176572 [GRCh38]
Chr2:240098268 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] Chr2:238939181..242065208 [GRCh38]
Chr2:239860877..243007359 [GRCh37]
Chr2:239525814..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3 copy number gain See cases [RCV000052978] Chr2:237813997..240410487 [GRCh38]
Chr2:238722640..241349904 [GRCh37]
Chr2:238387379..240998577 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
NM_006037.3(HDAC4):c.155G>A (p.Arg52His) single nucleotide variant Chromosome 2q37 deletion syndrome [RCV000601836] Chr2:239190017 [GRCh38]
Chr2:240111713 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.1419C>T (p.Asn473=) single nucleotide variant not provided [RCV000174350] Chr2:239126555 [GRCh38]
Chr2:240048251 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.2037C>T (p.Ala679=) single nucleotide variant not provided [RCV000174910] Chr2:239108110 [GRCh38]
Chr2:240029806 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 copy number gain See cases [RCV000133659] Chr2:238756369..241771051 [GRCh38]
Chr2:239665010..242710466 [GRCh37]
Chr2:239329749..242359139 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
NM_001378414.1(HDAC4):c.2234-11dup duplication not provided [RCV000175193] Chr2:239095060..239095061 [GRCh38]
Chr2:240016757 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1 copy number loss See cases [RCV000137411] Chr2:234058757..239443690 [GRCh38]
Chr2:234967401..240365384 [GRCh37]
Chr2:234632140..240030321 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239083430-239094006)x1 copy number loss See cases [RCV000137354] Chr2:239083430..239094006 [GRCh38]
Chr2:240005126..240015702 [GRCh37]
Chr2:239670063..239680639 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 copy number loss See cases [RCV000138117] Chr2:238833519..242126245 [GRCh38]
Chr2:239742160..243059659 [GRCh37]
Chr2:239406907..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1 copy number loss See cases [RCV000137830] Chr2:235757098..239443690 [GRCh38]
Chr2:236665742..240365384 [GRCh37]
Chr2:236330481..240030321 [NCBI36]
Chr2:2q37.2-37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:239135440-240003606)x3 copy number gain See cases [RCV000138526] Chr2:239135440..240003606 [GRCh38]
Chr2:240057136..240943023 [GRCh37]
Chr2:239722073..240591696 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:239045268-239678582)x1 copy number loss See cases [RCV000140124] Chr2:239045268..239678582 [GRCh38]
Chr2:239966964..240600276 [GRCh37]
Chr2:239631901..240265213 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239049058-239189273)x3 copy number gain See cases [RCV000139552] Chr2:239049058..239189273 [GRCh38]
Chr2:239970754..240110969 [GRCh37]
Chr2:239635691..239775906 [NCBI36]
Chr2:2q37.3
likely benign
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 copy number gain See cases [RCV000167564] Chr2:239873381..243006013 [GRCh37]
Chr2:2q37.3
pathogenic
NC_000002.12:g.(?_239048168)_(240879119_?)del deletion Primary hyperoxaluria, type I [RCV000186424] Chr2:239048168..240879119 [GRCh38]
Chr2:2q37.3
pathogenic
NM_006037.3(HDAC4):c.681C>T (p.His227=) single nucleotide variant not provided [RCV000179913] Chr2:239156704 [GRCh38]
Chr2:240078400 [GRCh37]
Chr2:2q37.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006037.3(HDAC4):c.3159C>T (p.Ala1053=) single nucleotide variant not provided [RCV000176674] Chr2:239053516 [GRCh38]
Chr2:239975212 [GRCh37]
Chr2:2q37.3
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
NM_006037.3(HDAC4):c.2062C>T (p.Arg688Cys) single nucleotide variant not provided [RCV000522469] Chr2:239108085 [GRCh38]
Chr2:240029781 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:239795385-240302186)x3 copy number gain See cases [RCV000240409] Chr2:239795385..240302186 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.2175G>A (p.Thr725=) single nucleotide variant not provided [RCV000339557] Chr2:239102819 [GRCh38]
Chr2:240024515 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.955G>A (p.Ala319Thr) single nucleotide variant not provided [RCV000870480]|not specified [RCV000341082] Chr2:239139707 [GRCh38]
Chr2:240061403 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.684G>A (p.Pro228=) single nucleotide variant Chromosome 2q37 deletion syndrome [RCV000614566]|not provided [RCV000865337]|not specified [RCV000343854] Chr2:239156701 [GRCh38]
Chr2:240078397 [GRCh37]
Chr2:2q37.3
benign|likely benign
NM_006037.3(HDAC4):c.2331C>T (p.Cys777=) single nucleotide variant not provided [RCV000278273] Chr2:239090051 [GRCh38]
Chr2:240011747 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.567G>A (p.Arg189=) single nucleotide variant not specified [RCV000345708] Chr2:239163847 [GRCh38]
Chr2:240085543 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2148G>A (p.Ser716=) single nucleotide variant not provided [RCV000945370]|not specified [RCV000348814] Chr2:239102846 [GRCh38]
Chr2:240024542 [GRCh37]
Chr2:2q37.3
benign|likely benign
NM_006037.3(HDAC4):c.958G>A (p.Val320Ile) single nucleotide variant not provided [RCV000872042]|not specified [RCV000385077] Chr2:239139704 [GRCh38]
Chr2:240061400 [GRCh37]
Chr2:2q37.3
benign|likely benign
NM_006037.3(HDAC4):c.2419A>G (p.Ser807Gly) single nucleotide variant not provided [RCV000281820] Chr2:239087569 [GRCh38]
Chr2:240009265 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.571C>T (p.Leu191=) single nucleotide variant not provided [RCV000282705] Chr2:239163843 [GRCh38]
Chr2:240085539 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.1991A>G (p.Lys664Arg) single nucleotide variant not provided [RCV000355186] Chr2:239108156 [GRCh38]
Chr2:240029852 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.1794G>A (p.Glu598=) single nucleotide variant Chromosome 2q37 deletion syndrome [RCV000609703]|not provided [RCV000870796]|not specified [RCV000359567] Chr2:239111695 [GRCh38]
Chr2:240033391 [GRCh37]
Chr2:2q37.3
benign|likely benign
NM_006037.3(HDAC4):c.2136G>A (p.Gln712=) single nucleotide variant not provided [RCV000292497] Chr2:239102858 [GRCh38]
Chr2:240024554 [GRCh37]
Chr2:2q37.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006037.3(HDAC4):c.222G>A (p.Glu74=) single nucleotide variant not provided [RCV000871121]|not specified [RCV000363463] Chr2:239189950 [GRCh38]
Chr2:240111646 [GRCh37]
Chr2:2q37.3
benign|likely benign
NM_006037.3(HDAC4):c.2356G>A (p.Ala786Thr) single nucleotide variant Chromosome 2q37 deletion syndrome [RCV000987068]|not provided [RCV000865470]|not specified [RCV000400987] Chr2:239090026 [GRCh38]
Chr2:240011722 [GRCh37]
Chr2:2q37.3
benign|likely benign
NM_006037.3(HDAC4):c.1938C>T (p.Pro646=) single nucleotide variant not provided [RCV000871809]|not specified [RCV000330088] Chr2:239111551 [GRCh38]
Chr2:240033247 [GRCh37]
Chr2:2q37.3
benign|likely benign
NM_006037.3(HDAC4):c.2646A>G (p.Thr882=) single nucleotide variant not provided [RCV000265937] Chr2:239081184 [GRCh38]
Chr2:240002880 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.1095+10C>G single nucleotide variant not provided [RCV000878659]|not specified [RCV000368724] Chr2:239134517 [GRCh38]
Chr2:240056213 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.952C>T (p.Pro318Ser) single nucleotide variant not provided [RCV000301550] Chr2:239139710 [GRCh38]
Chr2:240061406 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.339+10G>A single nucleotide variant not provided [RCV000335337] Chr2:239189823 [GRCh38]
Chr2:240111519 [GRCh37]
Chr2:2q37.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006037.3(HDAC4):c.1100C>T (p.Thr367Met) single nucleotide variant not provided [RCV000336487] Chr2:239134439 [GRCh38]
Chr2:240056135 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.1677G>A (p.Lys559=) single nucleotide variant not provided [RCV000870975]|not specified [RCV000370638] Chr2:239115152 [GRCh38]
Chr2:240036848 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.1963+8G>A single nucleotide variant not specified [RCV000371135] Chr2:239111518 [GRCh38]
Chr2:240033214 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.319C>T (p.Gln107Ter) single nucleotide variant not provided [RCV000579028] Chr2:239189853 [GRCh38]
Chr2:240111549 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.1343G>A (p.Arg448Gln) single nucleotide variant not provided [RCV000592776] Chr2:239126631 [GRCh38]
Chr2:240048327 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.3120_3151del (p.Ser1041fs) deletion not provided [RCV000627520] Chr2:239053524..239053555 [GRCh38]
Chr2:239975220..239975251 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.865+8G>A single nucleotide variant not provided [RCV000593384] Chr2:239144575 [GRCh38]
Chr2:240066271 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.3205G>A (p.Ala1069Thr) single nucleotide variant not provided [RCV000415810] Chr2:239053470 [GRCh38]
Chr2:239975166 [GRCh37]
Chr2:2q37.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006037.3(HDAC4):c.1554G>A (p.Pro518=) single nucleotide variant not provided [RCV000416051] Chr2:239115275 [GRCh38]
Chr2:240036971 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.922G>A (p.Gly308Arg) single nucleotide variant not provided [RCV000594647] Chr2:239139740 [GRCh38]
Chr2:240061436 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.1101G>A (p.Thr367=) single nucleotide variant not specified [RCV000732951] Chr2:239134438 [GRCh38]
Chr2:240056134 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.1634C>T (p.Pro545Leu) single nucleotide variant not provided [RCV000729246] Chr2:239115195 [GRCh38]
Chr2:240036891 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
NM_006037.3(HDAC4):c.2257G>A (p.Gly753Ser) single nucleotide variant not provided [RCV000441090] Chr2:239095018 [GRCh38]
Chr2:240016714 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_006037.3(HDAC4):c.2517+17T>C single nucleotide variant not provided [RCV000514802] Chr2:239084138 [GRCh38]
Chr2:240005834 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.743C>T (p.Pro248Leu) single nucleotide variant Inborn genetic diseases [RCV000622488]|not provided [RCV000486144] Chr2:239144705 [GRCh38]
Chr2:240066401 [GRCh37]
Chr2:2q37.3
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1 copy number loss See cases [RCV000510310] Chr2:239748306..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239395740-240538327)x4 copy number gain See cases [RCV000511895] Chr2:239395740..240538327 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1 copy number loss See cases [RCV000511227] Chr2:240161377..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_006037.3(HDAC4):c.2430-18G>A single nucleotide variant not provided [RCV000514915] Chr2:239084260 [GRCh38]
Chr2:240005956 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.871G>A (p.Ala291Thr) single nucleotide variant Intellectual disability [RCV001260719]|not specified [RCV000603638] Chr2:239139791 [GRCh38]
Chr2:240061487 [GRCh37]
Chr2:2q37.3
likely benign|uncertain significance
GRCh37/hg19 2q37.3(chr2:240203374-240432589)x1 copy number loss See cases [RCV000512606] Chr2:240203374..240432589 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3 copy number gain See cases [RCV000512298] Chr2:240141439..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
NM_006037.3(HDAC4):c.2517+18G>A single nucleotide variant not provided [RCV000515102] Chr2:239084137 [GRCh38]
Chr2:240005833 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2286G>A (p.Trp762Ter) single nucleotide variant not provided [RCV000627295] Chr2:239090096 [GRCh38]
Chr2:240011792 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1 copy number loss not provided [RCV000682146] Chr2:240076138..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1 copy number loss not provided [RCV000682148] Chr2:239884390..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1 copy number loss not provided [RCV000682151] Chr2:237480048..241611309 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
Single allele duplication not provided [RCV000677974] Chr2:239795385..240302186 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239163744-240053966)x3 copy number gain not provided [RCV000741015] Chr2:239163744..240053966 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.3(chr2:240322014-240323216)x0 copy number loss not provided [RCV000741019] Chr2:240322014..240323216 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.3(chr2:240322114-240323216)x1 copy number loss not provided [RCV000741020] Chr2:240322114..240323216 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.3180C>T (p.Ala1060=) single nucleotide variant not provided [RCV000979289] Chr2:239053495 [GRCh38]
Chr2:239975191 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1020C>T (p.Ala340=) single nucleotide variant not provided [RCV000875080] Chr2:239134602 [GRCh38]
Chr2:240056298 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.3031G>A (p.Ala1011Thr) single nucleotide variant not provided [RCV000871934] Chr2:239054791 [GRCh38]
Chr2:239976487 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.942C>T (p.Asn314=) single nucleotide variant not provided [RCV000873396] Chr2:239139720 [GRCh38]
Chr2:240061416 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.95-98del deletion Chromosome 2q37 deletion syndrome [RCV000987069] Chr2:239190175 [GRCh38]
Chr2:240111871 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.2772G>A (p.Pro924=) single nucleotide variant not provided [RCV000923877] Chr2:239068571 [GRCh38]
Chr2:239990267 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.957C>T (p.Ala319=) single nucleotide variant not provided [RCV000945916] Chr2:239139705 [GRCh38]
Chr2:240061401 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.1611C>T (p.Asp537=) single nucleotide variant not provided [RCV000878643] Chr2:239115218 [GRCh38]
Chr2:240036914 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.951G>A (p.Ala317=) single nucleotide variant not provided [RCV000926813] Chr2:239139711 [GRCh38]
Chr2:240061407 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2751G>C (p.Pro917=) single nucleotide variant not provided [RCV000923253] Chr2:239068592 [GRCh38]
Chr2:239990288 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2799C>T (p.Phe933=) single nucleotide variant not provided [RCV000877245] Chr2:239068544 [GRCh38]
Chr2:239990240 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1094C>T (p.Ala365Val) single nucleotide variant not provided [RCV000945371] Chr2:239134528 [GRCh38]
Chr2:240056224 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.453G>A (p.Lys151=) single nucleotide variant not provided [RCV000903634] Chr2:239176450 [GRCh38]
Chr2:240098146 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.2946C>T (p.Cys982=) single nucleotide variant not provided [RCV000877135] Chr2:239066764 [GRCh38]
Chr2:239988460 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1964-6C>T single nucleotide variant not provided [RCV000945653] Chr2:239108189 [GRCh38]
Chr2:240029885 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.1200G>A (p.Ser400=) single nucleotide variant not provided [RCV000870479] Chr2:239134339 [GRCh38]
Chr2:240056035 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.1168G>A (p.Gly390Ser) single nucleotide variant not provided [RCV000945432] Chr2:239134371 [GRCh38]
Chr2:240056067 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1317C>T (p.His439=) single nucleotide variant not provided [RCV000972009] Chr2:239126657 [GRCh38]
Chr2:240048353 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1120G>A (p.Glu374Lys) single nucleotide variant not provided [RCV000877974] Chr2:239134419 [GRCh38]
Chr2:240056115 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.1407G>A (p.Pro469=) single nucleotide variant not provided [RCV000877980] Chr2:239126567 [GRCh38]
Chr2:240048263 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.3165G>A (p.Thr1055=) single nucleotide variant not provided [RCV000878432] Chr2:239053510 [GRCh38]
Chr2:239975206 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 copy number loss See cases [RCV000790569] Chr2:239894072..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
NM_006037.3(HDAC4):c.3204C>T (p.Pro1068=) single nucleotide variant not provided [RCV000905611] Chr2:239053471 [GRCh38]
Chr2:239975167 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1429C>T (p.Leu477=) single nucleotide variant not provided [RCV000945898] Chr2:239126545 [GRCh38]
Chr2:240048241 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2685C>T (p.Thr895=) single nucleotide variant not provided [RCV000973842] Chr2:239081145 [GRCh38]
Chr2:240002841 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1653C>T (p.His551=) single nucleotide variant not provided [RCV000873104] Chr2:239115176 [GRCh38]
Chr2:240036872 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.870C>T (p.Ser290=) single nucleotide variant not provided [RCV000876660] Chr2:239139792 [GRCh38]
Chr2:240061488 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.1968C>T (p.Leu656=) single nucleotide variant not provided [RCV000898515] Chr2:239108179 [GRCh38]
Chr2:240029875 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.959T>C (p.Val320Ala) single nucleotide variant not provided [RCV000878293] Chr2:239139703 [GRCh38]
Chr2:240061399 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.2637+7G>A single nucleotide variant not provided [RCV000925476] Chr2:239082095 [GRCh38]
Chr2:240003791 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.658G>A (p.Gly220Arg) single nucleotide variant not provided [RCV000873165] Chr2:239156727 [GRCh38]
Chr2:240078423 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.2034C>T (p.His678=) single nucleotide variant not provided [RCV000894132] Chr2:239108113 [GRCh38]
Chr2:240029809 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2219-5C>G single nucleotide variant not provided [RCV000923556] Chr2:239095061 [GRCh38]
Chr2:240016757 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.3225G>A (p.Glu1075=) single nucleotide variant not provided [RCV000917719] Chr2:239053127 [GRCh38]
Chr2:239974823 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2727G>A (p.Ala909=) single nucleotide variant not provided [RCV000878733] Chr2:239081103 [GRCh38]
Chr2:240002799 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2098-5C>T single nucleotide variant not provided [RCV000951787] Chr2:239102901 [GRCh38]
Chr2:240024597 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.2895C>T (p.Gly965=) single nucleotide variant not provided [RCV000865397] Chr2:239066815 [GRCh38]
Chr2:239988511 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.2906T>C (p.Val969Ala) single nucleotide variant not provided [RCV000894723] Chr2:239066804 [GRCh38]
Chr2:239988500 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1866C>T (p.Gly622=) single nucleotide variant not provided [RCV000952058] Chr2:239111623 [GRCh38]
Chr2:240033319 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.838C>T (p.Leu280=) single nucleotide variant not provided [RCV000897888] Chr2:239144610 [GRCh38]
Chr2:240066306 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.3(chr2:240176735-240248534)x1 copy number loss not provided [RCV001005386] Chr2:240176735..240248534 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_006037.3(HDAC4):c.1519-9G>A single nucleotide variant not provided [RCV000893240] Chr2:239115319 [GRCh38]
Chr2:240037015 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1 copy number loss not provided [RCV001005385] Chr2:240112450..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
NM_006037.3(HDAC4):c.2735+3G>A single nucleotide variant not provided [RCV000997708] Chr2:239081092 [GRCh38]
Chr2:240002788 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.2535C>T (p.Asn845=) single nucleotide variant not provided [RCV000871117] Chr2:239082204 [GRCh38]
Chr2:240003900 [GRCh37]
Chr2:2q37.3
likely benign
NC_000002.12:g.(?_239085803)_(239087614_?)del deletion not provided [RCV000819892] Chr2:239085803..239087614 [GRCh38]
Chr2:240007499..240009310 [GRCh37]
Chr2:2q37.3
pathogenic|uncertain significance
NM_006037.3(HDAC4):c.1776+7G>A single nucleotide variant not provided [RCV000873103] Chr2:239115046 [GRCh38]
Chr2:240036742 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.1104G>A (p.Ala368=) single nucleotide variant not provided [RCV000875889] Chr2:239134435 [GRCh38]
Chr2:240056131 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.3171C>T (p.Thr1057=) single nucleotide variant not provided [RCV000963607] Chr2:239053504 [GRCh38]
Chr2:239975200 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1650G>T (p.Ala550=) single nucleotide variant not provided [RCV000963608] Chr2:239115179 [GRCh38]
Chr2:240036875 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2491G>A (p.Val831Met) single nucleotide variant not provided [RCV000871345] Chr2:239084181 [GRCh38]
Chr2:240005877 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.1941C>G (p.Pro647=) single nucleotide variant not provided [RCV000976982] Chr2:239111548 [GRCh38]
Chr2:240033244 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.513G>A (p.Val171=) single nucleotide variant not provided [RCV000979905] Chr2:239163901 [GRCh38]
Chr2:240085597 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.3(chr2:239896860-240221984)x1 copy number loss not provided [RCV001005383] Chr2:239896860..240221984 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_006037.3(HDAC4):c.339+7C>T single nucleotide variant not provided [RCV000997709] Chr2:239189826 [GRCh38]
Chr2:240111522 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.3246G>T (p.Pro1082=) single nucleotide variant not provided [RCV000975389] Chr2:239053106 [GRCh38]
Chr2:239974802 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.3(chr2:239993217-240008612)x1 copy number loss not provided [RCV000846042] Chr2:239993217..240008612 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1 copy number loss not provided [RCV001007525] Chr2:236172348..241611309 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
NM_001378414.1(HDAC4):c.1780C>T (p.Leu594Phe) single nucleotide variant not provided [RCV001090757] Chr2:239115064 [GRCh38]
Chr2:240036760 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.972G>A (p.Pro324=) single nucleotide variant not provided [RCV000908324] Chr2:239139690 [GRCh38]
Chr2:240061386 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2430-4G>A single nucleotide variant not provided [RCV000918161] Chr2:239084246 [GRCh38]
Chr2:240005942 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1650G>A (p.Ala550=) single nucleotide variant not provided [RCV000955116] Chr2:239115179 [GRCh38]
Chr2:240036875 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1963+10G>A single nucleotide variant not provided [RCV000878642] Chr2:239111516 [GRCh38]
Chr2:240033212 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.1309C>T (p.Pro437Ser) single nucleotide variant not provided [RCV000871919] Chr2:239126665 [GRCh38]
Chr2:240048361 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2097+9G>A single nucleotide variant not provided [RCV000952392] Chr2:239108041 [GRCh38]
Chr2:240029737 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2855-7G>A single nucleotide variant not provided [RCV000952397] Chr2:239066862 [GRCh38]
Chr2:239988558 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1565C>T (p.Pro522Leu) single nucleotide variant Multiple myeloma [RCV000984097] Chr2:239115264 [GRCh38]
Chr2:240036960 [GRCh37]
Chr2:2q37.3
likely pathogenic
NM_006037.3(HDAC4):c.2989-9T>C single nucleotide variant not provided [RCV000951997] Chr2:239054842 [GRCh38]
Chr2:239976538 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2569G>A (p.Val857Ile) single nucleotide variant not provided [RCV000945644] Chr2:239082170 [GRCh38]
Chr2:240003866 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.2304G>A (p.Ala768=) single nucleotide variant not provided [RCV000884395] Chr2:239090078 [GRCh38]
Chr2:240011774 [GRCh37]
Chr2:2q37.3
benign
NM_006037.3(HDAC4):c.3215+7A>G single nucleotide variant not provided [RCV000917313] Chr2:239053453 [GRCh38]
Chr2:239975149 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.111G>A (p.Ala37=) single nucleotide variant not provided [RCV000954013] Chr2:239190061 [GRCh38]
Chr2:240111757 [GRCh37]
Chr2:2q37.3
benign
NM_001378414.1(HDAC4):c.1984G>A (p.Val662Met) single nucleotide variant See cases [RCV001199179] Chr2:239108178 [GRCh38]
Chr2:240029874 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_001378414.1(HDAC4):c.70C>T (p.Arg24Cys) single nucleotide variant not provided [RCV001090759] Chr2:239236617 [GRCh38]
Chr2:240158313 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_006037.3(HDAC4):c.1842C>T (p.Ala614=) single nucleotide variant not provided [RCV000935708] Chr2:239111647 [GRCh38]
Chr2:240033343 [GRCh37]
Chr2:2q37.3
likely benign
NM_006037.3(HDAC4):c.1356C>T (p.Ser452=) single nucleotide variant not provided [RCV000889423] Chr2:239126618 [GRCh38]
Chr2:240048314 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1 copy number loss not provided [RCV001005384] Chr2:239914717..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
NM_001378414.1(HDAC4):c.989C>T (p.Ala330Val) single nucleotide variant not provided [RCV001090758] Chr2:239134633 [GRCh38]
Chr2:240056329 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_001378414.1(HDAC4):c.1979-8C>T single nucleotide variant Intellectual disability [RCV001252508] Chr2:239108191 [GRCh38]
Chr2:240029887 [GRCh37]
Chr2:2q37.3
likely benign
NM_001378414.1(HDAC4):c.3058C>T (p.Arg1020Cys) single nucleotide variant Intellectual disability [RCV001252509] Chr2:239054779 [GRCh38]
Chr2:239976475 [GRCh37]
Chr2:2q37.3
likely benign
NM_001378414.1(HDAC4):c.3094T>C (p.Tyr1032His) single nucleotide variant Microcephaly [RCV001252736] Chr2:239053596 [GRCh38]
Chr2:239975292 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_001378414.1(HDAC4):c.565C>T (p.Arg189Trp) single nucleotide variant Intellectual disability [RCV001260718] Chr2:239163849 [GRCh38]
Chr2:240085545 [GRCh37]
Chr2:2q37.3
likely benign
NM_001378414.1(HDAC4):c.1387C>T (p.Gln463Ter) single nucleotide variant Chromosome 2q37 deletion syndrome [RCV001263006] Chr2:239126602 [GRCh38]
Chr2:240048298 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_001378414.1(HDAC4):c.2011C>T (p.Gln671Ter) single nucleotide variant Neurodevelopmental abnormality [RCV001264680] Chr2:239108151 [GRCh38]
Chr2:240029847 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_001378414.1(HDAC4):c.2821G>A (p.Val941Met) single nucleotide variant none provided [RCV001287226] Chr2:239068537 [GRCh38]
Chr2:239990233 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_001378414.1(HDAC4):c.412C>T (p.Arg138Cys) single nucleotide variant Intellectual disability [RCV001260720] Chr2:239176491 [GRCh38]
Chr2:240098187 [GRCh37]
Chr2:2q37.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14063 AgrOrtholog
COSMIC HDAC4 COSMIC
Ensembl Genes ENSG00000068024 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264606 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391226 UniProtKB/TrEMBL
  ENSP00000392912 UniProtKB/TrEMBL
  ENSP00000405226 UniProtKB/TrEMBL
  ENSP00000410551 UniProtKB/TrEMBL
  ENSP00000440481 ENTREZGENE
Ensembl Transcript ENST00000345617 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000430200 UniProtKB/TrEMBL
  ENST00000445704 UniProtKB/TrEMBL
  ENST00000446876 UniProtKB/TrEMBL
  ENST00000454542 UniProtKB/TrEMBL
  ENST00000543185 ENTREZGENE
Gene3D-CATH 3.40.800.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000068024 GTEx
HGNC ID HGNC:14063 ENTREZGENE
Human Proteome Map HDAC4 Human Proteome Map
InterPro HDAC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_deacetylse UniProtKB/Swiss-Prot
  His_deacetylse_dom UniProtKB/Swiss-Prot
  His_deacetylse_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hist_deacetylase_Gln_rich_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Histone_deAcase_II_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ureohydrolase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9759 UniProtKB/Swiss-Prot
NCBI Gene 9759 ENTREZGENE
OMIM 600430 OMIM
  605314 OMIM
PANTHER PTHR45364 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45364:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HDAC4_Gln UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hist_deacetyl UniProtKB/Swiss-Prot
PharmGKB PA29229 PharmGKB
PIRSF HDAC_II_euk UniProtKB/Swiss-Prot
PRINTS HDASUPER UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52768 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9J0X4_HUMAN UniProtKB/TrEMBL
  C9J481_HUMAN UniProtKB/TrEMBL
  H7BZT3_HUMAN UniProtKB/TrEMBL
  H7C397_HUMAN UniProtKB/TrEMBL
  HDAC4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary E9PGB9 UniProtKB/Swiss-Prot
  F5GX36 UniProtKB/Swiss-Prot
  Q86YH7 UniProtKB/Swiss-Prot
  Q9UND6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 HDAC4  histone deacetylase 4  BDMR  brachydactyly-mental retardation syndrome  Data Merged 737654 PROVISIONAL
2011-08-16 HDAC4  histone deacetylase 4  HDAC4  histone deacetylase 4  Symbol and/or name change 5135510 APPROVED