VPS4A (vacuolar protein sorting 4 homolog A) - Rat Genome Database

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Gene: VPS4A (vacuolar protein sorting 4 homolog A) Homo sapiens
Analyze
Symbol: VPS4A
Name: vacuolar protein sorting 4 homolog A
RGD ID: 732193
HGNC Page HGNC
Description: Exhibits several functions, including ATP binding activity; ATPase activity; and protein C-terminus binding activity. Involved in several processes, including negative regulation of cell cycle process; positive regulation of viral life cycle; and proteolysis involved in cellular protein catabolic process. Localizes to several cellular components, including endosome; microtubule cytoskeleton; and vacuole.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ22197; hVPS4; SKD1; SKD1-homolog; SKD1A; SKD2; vacuolar protein sorting 4 homolog A (S. cerevisiae); vacuolar protein sorting factor 4A; vacuolar protein sorting-associated protein 4A; vacuolar sorting protein 4; VPS4; VPS4-1
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 Ensembl1669,311,350 - 69,326,939 (+)EnsemblGRCh38hg38GRCh38
GRCh381669,311,350 - 69,326,939 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371669,345,253 - 69,360,842 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361667,902,788 - 67,916,447 (+)NCBINCBI36hg18NCBI36
Build 341667,902,787 - 67,916,446NCBI
Celera1653,859,828 - 53,873,486 (+)NCBI
Cytogenetic Map16q22.1NCBI
HuRef1655,223,517 - 55,237,174 (+)NCBIHuRef
CHM1_11670,753,291 - 70,766,948 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
abscission  (IMP)
actomyosin contractile ring contraction  (TAS)
cell division  (IDA)
cytoskeleton-dependent cytokinesis  (TAS)
endosomal transport  (IBA,IMP,TAS)
endosomal vesicle fusion  (IMP)
ESCRT complex disassembly  (NAS)
ESCRT III complex disassembly  (NAS)
intracellular cholesterol transport  (IMP)
late endosomal microautophagy  (ISS)
macroautophagy  (NAS)
midbody abscission  (IMP)
mitotic cytokinesis checkpoint signaling  (IMP)
mitotic metaphase plate congression  (IMP)
mitotic nuclear membrane reassembly  (TAS)
multivesicular body assembly  (ISS,NAS)
negative regulation of cytokinesis  (IMP)
nuclear envelope organization  (TAS)
nuclear membrane reassembly  (TAS)
nucleus organization  (IMP)
positive regulation of exosomal secretion  (IMP)
positive regulation of viral budding via host ESCRT complex  (IMP)
positive regulation of viral life cycle  (IMP)
positive regulation of viral process  (ISO)
positive regulation of viral release from host cell  (IMP)
protein targeting to lysosome  (IMP)
regulation of protein localization  (IMP)
regulation of protein localization to plasma membrane  (IMP)
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway  (IMP)
ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway  (IMP)
vacuole organization  (IBA)
vesicle budding from membrane  (IMP)
vesicle uncoating  (IMP)
vesicle-mediated transport  (IDA)
viral budding via host ESCRT complex  (IGI)
viral life cycle  (TAS)
viral process  (TAS)
viral release from host cell  (IMP)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10393249   PMID:10931946   PMID:11031247   PMID:11559748   PMID:11563910   PMID:11595185   PMID:11931639   PMID:11937716   PMID:12417987   PMID:12477932   PMID:12594041   PMID:12860994  
PMID:14505569   PMID:14505570   PMID:14519844   PMID:14602072   PMID:15075231   PMID:15489334   PMID:15632132   PMID:16174732   PMID:16193069   PMID:16730941   PMID:16757520   PMID:16841193  
PMID:16973552   PMID:17110338   PMID:17553870   PMID:17601348   PMID:17725712   PMID:17853893   PMID:17913808   PMID:17928862   PMID:17940959   PMID:18005716   PMID:18385515   PMID:18606141  
PMID:18621683   PMID:18976975   PMID:18997780   PMID:19129479   PMID:19129480   PMID:19199708   PMID:19403684   PMID:19524996   PMID:19615732   PMID:19640981   PMID:19828764   PMID:20164219  
PMID:20339000   PMID:20427536   PMID:20588296   PMID:20616062   PMID:20621136   PMID:20805225   PMID:21118109   PMID:21248205   PMID:21304933   PMID:21394083   PMID:21394086   PMID:21494275  
PMID:21543490   PMID:21762796   PMID:21841072   PMID:21873635   PMID:22004035   PMID:22216284   PMID:22231449   PMID:22268729   PMID:22547407   PMID:22660413   PMID:22754649   PMID:22762019  
PMID:23009658   PMID:23105106   PMID:23533145   PMID:24107264   PMID:24268138   PMID:24814515   PMID:24878737   PMID:25005938   PMID:25033200   PMID:25099357   PMID:25164817   PMID:25496667  
PMID:25503676   PMID:25534348   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26551458   PMID:26678539   PMID:26972000   PMID:27001827   PMID:27173435   PMID:27280284   PMID:27339686  
PMID:27342126   PMID:27432908   PMID:28242692   PMID:28349933   PMID:28514442   PMID:28604678   PMID:29117863   PMID:29467282   PMID:29507755   PMID:29802200   PMID:30033366   PMID:30110633  
PMID:30442762   PMID:30471916   PMID:30833792   PMID:30948266   PMID:31059752   PMID:31073040   PMID:31091453   PMID:31586073   PMID:31753913   PMID:32296183   PMID:32457219   PMID:32463358  
PMID:33186543   PMID:33186545  


Genomics

Comparative Map Data
VPS4A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1669,311,350 - 69,326,939 (+)EnsemblGRCh38hg38GRCh38
GRCh381669,311,350 - 69,326,939 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371669,345,253 - 69,360,842 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361667,902,788 - 67,916,447 (+)NCBINCBI36hg18NCBI36
Build 341667,902,787 - 67,916,446NCBI
Celera1653,859,828 - 53,873,486 (+)NCBI
Cytogenetic Map16q22.1NCBI
HuRef1655,223,517 - 55,237,174 (+)NCBIHuRef
CHM1_11670,753,291 - 70,766,948 (+)NCBICHM1_1
Vps4a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398107,757,901 - 107,772,392 (+)NCBIGRCm39mm39
GRCm39 Ensembl8107,757,854 - 107,772,387 (+)Ensembl
GRCm388107,031,269 - 107,045,760 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8107,031,222 - 107,045,755 (+)EnsemblGRCm38mm10GRCm38
MGSCv378109,555,226 - 109,569,656 (+)NCBIGRCm37mm9NCBIm37
MGSCv368109,920,455 - 109,934,885 (+)NCBImm8
Celera8111,257,885 - 111,272,306 (+)NCBICelera
Cytogenetic Map8D3NCBI
Vps4a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21934,934,999 - 34,948,267 (+)NCBI
Rnor_6.0 Ensembl1939,229,754 - 39,243,496 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01939,230,050 - 39,243,298 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01950,093,663 - 50,106,670 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41936,887,345 - 36,900,864 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11936,892,225 - 36,905,745 (+)NCBI
Celera1934,358,772 - 34,371,812 (+)NCBICelera
Cytogenetic Map19q12NCBI
Vps4a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554847,368,938 - 7,375,964 (-)NCBIChiLan1.0ChiLan1.0
VPS4A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11668,946,466 - 69,085,714 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01649,685,827 - 49,699,542 (+)NCBIMhudiblu_PPA_v0panPan3
VPS4A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1580,327,059 - 80,340,380 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha580,311,739 - 80,330,670 (-)NCBI
ROS_Cfam_1.0580,755,360 - 80,774,301 (-)NCBI
UMICH_Zoey_3.1580,582,504 - 80,601,442 (-)NCBI
UNSW_CanFamBas_1.0580,265,344 - 80,284,280 (-)NCBI
UU_Cfam_GSD_1.0580,904,921 - 80,923,853 (-)NCBI
Vps4a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934940,144,891 - 40,156,804 (-)NCBI
SpeTri2.0NW_00493647519,432,311 - 19,444,223 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VPS4A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1617,657,792 - 17,669,560 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2616,604,522 - 16,616,293 (-)NCBISscrofa10.2Sscrofa10.2susScr3
VPS4A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1558,081,800 - 58,095,115 (-)NCBI
Vps4a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474617,044,173 - 17,059,295 (-)NCBI

Position Markers
RH69710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371669,358,728 - 69,358,913UniSTSGRCh37
Build 361667,916,229 - 67,916,414RGDNCBI36
Celera1653,873,268 - 53,873,453RGD
Cytogenetic Map16q22.1UniSTS
HuRef1655,236,956 - 55,237,141UniSTS
GeneMap99-GB4 RH Map16411.79UniSTS
NCBI RH Map16537.1UniSTS
D20S994  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p21.31UniSTS
Cytogenetic MapXp11.21UniSTS
Cytogenetic Map16q22.1UniSTS
D21S1698  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q24UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXp11.21UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q26.13UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1083
Count of miRNA genes:691
Interacting mature miRNAs:787
Transcripts:ENST00000254950, ENST00000562754, ENST00000564399, ENST00000566354
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.


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 2436 2870 1703 602 1872 443 4357 2145 3721 418 1459 1611 175 1 1204 2788 5 2
Low 3 121 23 22 79 22 52 13 1 1 2 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000254950   ⟹   ENSP00000254950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1669,311,350 - 69,326,939 (+)Ensembl
RefSeq Acc Id: ENST00000562754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1669,319,489 - 69,321,116 (+)Ensembl
RefSeq Acc Id: ENST00000564399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1669,321,093 - 69,322,270 (+)Ensembl
RefSeq Acc Id: ENST00000566354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1669,321,211 - 69,325,046 (+)Ensembl
RefSeq Acc Id: NM_013245   ⟹   NP_037377
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,311,350 - 69,326,939 (+)NCBI
GRCh371669,345,242 - 69,358,951 (+)NCBI
Build 361667,902,788 - 67,916,447 (+)NCBI Archive
HuRef1655,223,517 - 55,237,174 (+)ENTREZGENE
CHM1_11670,753,291 - 70,766,948 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_037377   ⟸   NM_013245
- UniProtKB: Q9UN37 (UniProtKB/Swiss-Prot),   A0A024R705 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000254950   ⟸   ENST00000254950
Protein Domains
AAA   MIT   Vps4_C

Promoters
RGD ID:6793596
Promoter ID:HG_KWN:24121
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_013245
Position:
Human AssemblyChrPosition (strand)Source
Build 361667,902,389 - 67,902,889 (+)MPROMDB
RGD ID:7232687
Promoter ID:EPDNEW_H22089
Type:initiation region
Name:VPS4A_1
Description:vacuolar protein sorting 4 homolog A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22090  EPDNEW_H22091  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,311,356 - 69,311,416EPDNEW
RGD ID:7232689
Promoter ID:EPDNEW_H22090
Type:initiation region
Name:VPS4A_3
Description:vacuolar protein sorting 4 homolog A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22089  EPDNEW_H22091  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,316,071 - 69,316,131EPDNEW
RGD ID:7232691
Promoter ID:EPDNEW_H22091
Type:initiation region
Name:VPS4A_2
Description:vacuolar protein sorting 4 homolog A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22089  EPDNEW_H22090  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,321,201 - 69,321,261EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_013245.3(VPS4A):c.616G>A (p.Glu206Lys) single nucleotide variant not provided [RCV001290980] Chr16:69319539 [GRCh38]
Chr16:69353442 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_013245.3(VPS4A):c.850A>G (p.Arg284Gly) single nucleotide variant not provided [RCV001290979] Chr16:69320768 [GRCh38]
Chr16:69354671 [GRCh37]
Chr16:16q22.1		 pathogenic
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1 copy number loss See cases [RCV000053337] Chr16:68698941..74353205 [GRCh38]
Chr16:68732844..74387103 [GRCh37]
Chr16:67290345..72944604 [NCBI36]
Chr16:16q22.1-23.1		 pathogenic
NM_013245.3(VPS4A):c.850A>T (p.Arg284Trp) single nucleotide variant Syndromic congenital hemolytic and dyserythropoietic anemia [RCV001290970]|not provided [RCV001290978] Chr16:69320768 [GRCh38]
Chr16:69354671 [GRCh37]
Chr16:16q22.1		 pathogenic
NM_013245.3(VPS4A):c.83C>T (p.Ala28Val) single nucleotide variant Syndromic congenital hemolytic and dyserythropoietic anemia [RCV001290972] Chr16:69316069 [GRCh38]
Chr16:69349972 [GRCh37]
Chr16:16q22.1		 likely pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1 copy number loss See cases [RCV000136580] Chr16:69144650..70257882 [GRCh38]
Chr16:69178553..70291785 [GRCh37]
Chr16:67736054..68849286 [NCBI36]
Chr16:16q22.1		 uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 copy number gain See cases [RCV000142038] Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Ductal breast carcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_013245.3(VPS4A):c.719_722del (p.Glu240fs) deletion not provided [RCV000436732] Chr16:69320238..69320241 [GRCh38]
Chr16:69354141..69354144 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss PARP Inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss PARP Inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_013245.3(VPS4A):c.598A>G (p.Lys200Glu) single nucleotide variant not provided [RCV000996295] Chr16:69319521 [GRCh38]
Chr16:69353424 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_013245.3(VPS4A):c.105G>A (p.Ala35=) single nucleotide variant not provided [RCV000966345] Chr16:69316091 [GRCh38]
Chr16:69349994 [GRCh37]
Chr16:16q22.1		 benign
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1		 pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_013245.3(VPS4A):c.608G>A (p.Gly203Glu) single nucleotide variant Syndromic congenital hemolytic and dyserythropoietic anemia [RCV001290971] Chr16:69319531 [GRCh38]
Chr16:69353434 [GRCh37]
Chr16:16q22.1		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13488 AgrOrtholog
COSMIC VPS4A COSMIC
Ensembl Genes ENSG00000132612 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000254950 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000254950 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000132612 GTEx
HGNC ID HGNC:13488 ENTREZGENE
Human Proteome Map VPS4A Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATPase_AAA_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIT_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VPS4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vps4_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27183 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 27183 ENTREZGENE
OMIM 609982 OMIM
PANTHER PTHR23074:SF72 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AAA_lid_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vps4_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38362 PharmGKB
PROSITE AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF116846 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R705 ENTREZGENE, UniProtKB/TrEMBL
  Q49AN7_HUMAN UniProtKB/TrEMBL
  Q9UN37 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RCB7 UniProtKB/Swiss-Prot
  Q8TF07 UniProtKB/Swiss-Prot
  Q9UI03 UniProtKB/Swiss-Prot
  Q9Y582 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 VPS4A  vacuolar protein sorting 4 homolog A  VPS4A  vacuolar protein sorting 4 homolog A (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED