ATP6V0D2 (ATPase H+ transporting V0 subunit d2)

Gene: ATP6V0D2 (ATPase H+ transporting V0 subunit d2) Homo sapiens

Analyze

Symbol:

ATP6V0D2

Name:

ATPase H+ transporting V0 subunit d2

RGD ID:

1315777

HGNC Page

HGNC:18266

Description:

Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification and vacuolar transport. Located in apical plasma membrane. Part of vacuolar proton-transporting V-type ATPase complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

ATP6D2; atpase, h+ transporting, lysosomal 38kda, v0 subunit d isoform 2; ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2; FLJ38708; V-ATPase subunit d 2; V-type proton ATPase subunit d 2; vacuolar proton pump subunit d 2; VMA6

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Atp6v0d2 (ATPase, H+ transporting, lysosomal V0 subunit D2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Atp6v0d2 (ATPase H+ transporting V0 subunit D2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Atp6v0d2 (ATPase H+ transporting V0 subunit d2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ATP6V0D2 (ATPase H+ transporting V0 subunit d2)	NCBI	Ortholog
Canis lupus familiaris (dog):	ATP6V0D2 (ATPase H+ transporting V0 subunit d2)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Atp6v0d2 (ATPase H+ transporting V0 subunit d2)	NCBI	Ortholog
Sus scrofa (pig):	ATP6V0D2 (ATPase H+ transporting V0 subunit d2)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ATP6V0D2 (ATPase H+ transporting V0 subunit d2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Atp6v0d2 (ATPase H+ transporting V0 subunit d2)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Atp6v0d2 (ATPase H+ transporting V0 subunit D2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Atp6v0d2 (ATPase, H+ transporting, lysosomal V0 subunit D2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	VMA6	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	VhaAC39-1	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	VhaAC39-2	Alliance	DIOPT (OrthoFinder\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	vha-16	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	atp6v0d2.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	atp6v0d2	Alliance	DIOPT (OrthoFinder\|PANTHER\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	86,098,910 - 86,154,225 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	85,987,323 - 86,154,225 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	87,111,139 - 87,166,454 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	87,180,255 - 87,235,570 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	87,180,254 - 87,235,570	NCBI
Celera	8	83,305,507 - 83,360,717 (+)	NCBI		Celera
Cytogenetic Map	8	q21.3	NCBI
HuRef	8	82,320,757 - 82,376,003 (+)	NCBI		HuRef
CHM1_1	8	87,152,442 - 87,207,669 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	87,216,307 - 87,271,615 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

ovarian cyst (EXP)

Stomach Neoplasms (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,1-dichloroethene (ISO)

1,4-dioxane (ISO)

1-naphthyl isothiocyanate (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-aminopurine (ISO)

3,3',5,5'-tetrabromobisphenol A (EXP)

3,4-dichloroaniline (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

Aroclor 1254 (ISO)

avobenzone (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

bromobenzene (ISO)

cadmium atom (ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

choline (ISO)

cis-caffeic acid (EXP)

cisplatin (EXP)

clothianidin (EXP)

copper atom (EXP)

copper(0) (EXP)

cyclosporin A (EXP)

desferrioxamine B (ISO)

dextran sulfate (ISO)

dimethyl fumarate (ISO)

dioxygen (ISO)

diuron (EXP)

dorsomorphin (EXP)

endosulfan (ISO)

fenamidone (ISO)

folic acid (ISO)

furan (ISO)

GW 4064 (ISO)

indole-3-methanol (ISO)

L-methionine (ISO)

lidocaine (ISO)

lipopolysaccharide (EXP)

mangiferin (ISO)

metformin (ISO)

methapyrilene (EXP)

methotrexate (ISO)

methylmercury chloride (EXP)

N-acetyl-L-cysteine (ISO)

N-nitrosodiethylamine (ISO)

naringin (ISO)

niclosamide (EXP)

ozone (ISO)

panobinostat (EXP)

perfluorooctane-1-sulfonic acid (ISO)

permethrin (ISO)

phenobarbital (ISO)

pravastatin (ISO)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

SB 203580 (ISO)

SB 431542 (EXP)

sclareol (ISO)

silicon dioxide (EXP,ISO)

sodium arsenite (ISO)

sotorasib (EXP)

styrene (ISO)

succimer (ISO)

sulforaphane (ISO)

tamoxifen (ISO)

Testosterone propionate (ISO)

tetrachloroethene (ISO)

tetrachloromethane (ISO)

thapsigargin (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

trametinib (EXP)

trans-caffeic acid (EXP)

tremolite asbestos (ISO)

trichostatin A (EXP)

urethane (EXP)

valproic acid (EXP)

zaragozic acid A (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

proton transmembrane transport (IEA)

regulation of macroautophagy (NAS)

vacuolar acidification (IBA)

vacuolar transport (IBA)

Cellular Component

apical plasma membrane (IDA,IEA)

early endosome (IBA,IEA)

endosome (IEA,ISO)

endosome membrane (TAS)

extracellular exosome (HDA)

lysosomal membrane (TAS)

membrane (IDA)

phagocytic vesicle membrane (TAS)

plasma membrane proton-transporting V-type ATPase complex (IBA)

proton-transporting V-type ATPase, V0 domain (IEA)

vacuolar proton-transporting V-type ATPase complex (IBA,IDA)

Molecular Function

protein binding (IPI)

proton-transporting ATPase activity, rotational mechanism (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

oxidative phosphorylation pathway (IEA)

rheumatoid arthritis pathway (IEA)

tuberculosis pathway (IEA)

Vibrio cholerae infection pathway (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG: Kyoto Encyclopedia of Genes and Genomes	KEGG
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2874839	PMID:11836511	PMID:12384298	PMID:12477932	PMID:12788495	PMID:14580332	PMID:14597263	PMID:14702039	PMID:15800125	PMID:17662945	PMID:18752060	PMID:19056867
PMID:19818731	PMID:21873635	PMID:21988832	PMID:22379998	PMID:22982048	PMID:23376485	PMID:24631925	PMID:26186194	PMID:28514442	PMID:28700943	PMID:30066839	PMID:30431439
PMID:32240421	PMID:32296183	PMID:33961781	PMID:36476874	PMID:36724073

Genomics

Comparative Map Data

ATP6V0D2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	86,098,910 - 86,154,225 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	85,987,323 - 86,154,225 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	87,111,139 - 87,166,454 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	87,180,255 - 87,235,570 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	87,180,254 - 87,235,570	NCBI
Celera	8	83,305,507 - 83,360,717 (+)	NCBI		Celera
Cytogenetic Map	8	q21.3	NCBI
HuRef	8	82,320,757 - 82,376,003 (+)	NCBI		HuRef
CHM1_1	8	87,152,442 - 87,207,669 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	87,216,307 - 87,271,615 (+)	NCBI		T2T-CHM13v2.0

Atp6v0d2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	19,876,838 - 19,922,566 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	19,876,841 - 19,922,605 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	19,876,838 - 19,922,566 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	19,876,841 - 19,922,605 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	19,803,985 - 19,849,713 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	19,803,988 - 19,849,713 (-)	NCBI		MGSCv36	mm8
Celera	4	19,634,311 - 19,678,717 (-)	NCBI		Celera
Cytogenetic Map	4	A3	NCBI
cM Map	4	7.67	NCBI

Atp6v0d2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	38,133,151 - 38,182,245 (-)	NCBI		GRCr8
mRatBN7.2	5	33,336,257 - 33,385,354 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	33,336,264 - 33,385,354 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	35,456,598 - 35,505,752 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	37,048,803 - 37,097,953 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	36,988,308 - 37,037,462 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	33,843,591 - 33,892,446 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	33,843,519 - 33,892,462 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	38,499,081 - 38,547,691 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	34,476,045 - 34,524,995 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	34,476,226 - 34,525,174 (-)	NCBI
Celera	5	32,423,635 - 32,472,662 (-)	NCBI		Celera
Cytogenetic Map	5	q13	NCBI

Atp6v0d2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955417	3,778,462 - 3,836,672 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955417	3,778,587 - 3,832,973 (+)	NCBI	ChiLan1.0	ChiLan1.0

ATP6V0D2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	7	103,507,650 - 103,563,060 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	79,045,991 - 79,101,384 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	82,800,353 - 82,855,741 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	84,771,532 - 84,826,406 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	84,771,427 - 84,826,406 (+)	Ensembl	panpan1.1		panPan2

ATP6V0D2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	29	32,336,304 - 32,378,818 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	29	32,336,467 - 32,378,527 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	29	32,557,003 - 32,599,242 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	29	32,491,620 - 32,533,856 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	29	32,491,605 - 32,533,570 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	29	32,535,987 - 32,578,019 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	29	32,560,242 - 32,602,461 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	29	32,980,580 - 33,022,805 (+)	NCBI		UU_Cfam_GSD_1.0

Atp6v0d2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405303	46,973,049 - 47,018,648 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936544	774,125 - 819,244 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936544	774,154 - 819,189 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ATP6V0D2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	50,694,189 - 50,749,378 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	50,694,188 - 50,749,373 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	55,660,240 - 55,715,444 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ATP6V0D2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	8	81,280,642 - 81,336,945 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	81,280,888 - 81,337,106 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666039	59,615,834 - 59,691,705 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Atp6v0d2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624744	5,617,711 - 5,664,006 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624744	5,618,144 - 5,663,794 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ATP6V0D2
49 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	copy number gain	See cases [RCV000051206]	Chr8:241530..145049449 [GRCh38] Chr8:191530..146274835 [GRCh37] Chr8:181530..146245639 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.2-21.3(chr8:85554861-86369755)x3	copy number gain	See cases [RCV000051000]	Chr8:85554861..86369755 [GRCh38] Chr8:86467090..87381984 [GRCh37] Chr8:86654342..87451100 [NCBI36] Chr8:8q21.2-21.3	uncertain significance
GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]\|See cases [RCV000053676]	Chr8:85835757..93610142 [GRCh38] Chr8:86847986..94622370 [GRCh37] Chr8:86917086..94691546 [NCBI36] Chr8:8q21.2-22.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000053602]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]\|See cases [RCV000053604]	Chr8:244417..145054775 [GRCh38] Chr8:194417..146280161 [GRCh37] Chr8:184417..146250965 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	copy number loss	See cases [RCV000054261]	Chr8:77765431..91839285 [GRCh38] Chr8:78677666..92851513 [GRCh37] Chr8:78840221..92920689 [NCBI36] Chr8:8q21.13-21.3	pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	copy number loss	See cases [RCV000054262]	Chr8:78672463..95366868 [GRCh38] Chr8:79584698..96379096 [GRCh37] Chr8:79747253..96448272 [NCBI36] Chr8:8q21.13-22.1	pathogenic
NM_152565.1(ATP6V0D2):c.727A>G (p.Thr243Ala)	single nucleotide variant	Malignant melanoma [RCV000068425]	Chr8:86150199 [GRCh38] Chr8:87162428 [GRCh37] Chr8:87231544 [NCBI36] Chr8:8q21.3	not provided
NM_152565.1(ATP6V0D2):c.808C>T (p.His270Tyr)	single nucleotide variant	Malignant melanoma [RCV000068426]	Chr8:86150280 [GRCh38] Chr8:87162509 [GRCh37] Chr8:87231625 [NCBI36] Chr8:8q21.3	not provided
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	copy number gain	See cases [RCV000137050]	Chr8:66171669..93505509 [GRCh38] Chr8:67083904..94517737 [GRCh37] Chr8:67246458..94586913 [NCBI36] Chr8:8q13.1-22.1	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	copy number gain	See cases [RCV000138643]	Chr8:241605..145054781 [GRCh38] Chr8:191605..146280167 [GRCh37] Chr8:181605..146250971 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	copy number gain	See cases [RCV000139036]	Chr8:77480050..145068712 [GRCh38] Chr8:78392286..146294098 [GRCh37] Chr8:78554841..146264902 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	copy number gain	See cases [RCV000139539]	Chr8:46031340..139285494 [GRCh38] Chr8:46942962..140297737 [GRCh37] Chr8:47062127..140366919 [NCBI36] Chr8:8q11.1-24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	copy number gain	See cases [RCV000141808]	Chr8:208048..145070385 [GRCh38] Chr8:158048..146295771 [GRCh37] Chr8:148048..146266575 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	copy number gain	See cases [RCV000142021]	Chr8:21291522..145070385 [GRCh38] Chr8:21149033..146295771 [GRCh37] Chr8:21193313..146266575 [NCBI36] Chr8:8p21.3-q24.3	pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	copy number gain	See cases [RCV000142858]	Chr8:226452..145068712 [GRCh38] Chr8:176452..146294098 [GRCh37] Chr8:166452..146264902 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	copy number gain	See cases [RCV000142597]	Chr8:78614077..145054634 [GRCh38] Chr8:79526312..146280020 [GRCh37] Chr8:79688867..146250824 [NCBI36] Chr8:8q21.13-24.3	pathogenic
GRCh38/hg38 8q21.2-21.3(chr8:85833750-86478465)x3	copy number gain	See cases [RCV000143209]	Chr8:85833750..86478465 [GRCh38] Chr8:86845979..87490694 [GRCh37] Chr8:86915079..87559810 [NCBI36] Chr8:8q21.2-21.3	uncertain significance
GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	copy number gain	See cases [RCV000143246]	Chr8:83721453..87866414 [GRCh38] Chr8:84633688..88878642 [GRCh37] Chr8:84796243..88947758 [NCBI36] Chr8:8q21.2-21.3	uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	copy number gain	See cases [RCV000148092]	Chr8:241530..145054634 [GRCh38] Chr8:191530..146280020 [GRCh37] Chr8:181530..146250824 [NCBI36] Chr8:8p23.3-q24.3	pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	copy number gain	See cases [RCV000143659]	Chr8:85765999..145070385 [GRCh38] Chr8:86778228..146295771 [GRCh37] Chr8:86863079..146266575 [NCBI36] Chr8:8q21.2-24.3	pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	copy number gain	See cases [RCV002292707]	Chr8:68912432..146295771 [GRCh37] Chr8:8q13.2-24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	copy number gain	See cases [RCV000447507]	Chr8:158991..146280828 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	copy number gain	See cases [RCV000510234]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	copy number gain	See cases [RCV000511095]	Chr8:158049..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	copy number gain	See cases [RCV000511002]	Chr8:86841154..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	copy number gain	See cases [RCV000510854]	Chr8:86841228..142689874 [GRCh37] Chr8:8q21.2-24.3	pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	copy number gain	See cases [RCV000512169]	Chr8:12490999..146295771 [GRCh37] Chr8:8p23.1-q24.3	pathogenic
GRCh37/hg19 8q21.3(chr8:87153679-87300640)x3	copy number gain	not provided [RCV000659241]	Chr8:87153679..87300640 [GRCh37] Chr8:8q21.3	likely benign
GRCh37/hg19 8q21.2-21.3(chr8:86778228-87120651)x3	copy number gain	not provided [RCV000682972]	Chr8:86778228..87120651 [GRCh37] Chr8:8q21.2-21.3	likely benign
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	copy number gain	not provided [RCV000683045]	Chr8:86841154..116518125 [GRCh37] Chr8:8q21.2-23.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3	copy number gain	not provided [RCV000747254]	Chr8:164984..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3	copy number gain	not provided [RCV000747248]	Chr8:10213..146293414 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_152565.1(ATP6V0D2):c.816+277G>T	single nucleotide variant	not provided [RCV001541726]	Chr8:86150565 [GRCh38] Chr8:87162794 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.130+178A>C	single nucleotide variant	not provided [RCV001666515]	Chr8:86099286 [GRCh38] Chr8:87111515 [GRCh37] Chr8:8q21.3	benign
GRCh37/hg19 8q21.13-21.3(chr8:84358585-89159915)x1	copy number loss	not provided [RCV000845762]	Chr8:84358585..89159915 [GRCh37] Chr8:8q21.13-21.3	uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	copy number gain	not provided [RCV000848192]	Chr8:31936551..146295771 [GRCh37] Chr8:8p12-q24.3	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not provided [RCV000848478]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
NM_152565.1(ATP6V0D2):c.-54C>T	single nucleotide variant	not provided [RCV003127056]	Chr8:86098925 [GRCh38] Chr8:87111154 [GRCh37] Chr8:8q21.3	likely benign
NM_152565.1(ATP6V0D2):c.639+42C>T	single nucleotide variant	not provided [RCV001686928]	Chr8:86142996 [GRCh38] Chr8:87155225 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.562-12T>C	single nucleotide variant	not provided [RCV001679441]	Chr8:86142865 [GRCh38] Chr8:87155094 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.891+284C>T	single nucleotide variant	not provided [RCV001708040]	Chr8:86151824 [GRCh38] Chr8:87164053 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.891+233del	deletion	not provided [RCV001643750]	Chr8:86151756 [GRCh38] Chr8:87163985 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.302+69G>C	single nucleotide variant	not provided [RCV001716477]	Chr8:86113949 [GRCh38] Chr8:87126178 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.864A>C (p.Thr288=)	single nucleotide variant	not provided [RCV000887417]	Chr8:86151513 [GRCh38] Chr8:87163742 [GRCh37] Chr8:8q21.3	likely benign
NM_152565.1(ATP6V0D2):c.918C>A (p.Asn306Lys)	single nucleotide variant	not provided [RCV000887418]	Chr8:86152842 [GRCh38] Chr8:87165071 [GRCh37] Chr8:8q21.3	likely benign
NM_152565.1(ATP6V0D2):c.891+1G>T	single nucleotide variant	not provided [RCV000894191]	Chr8:86151541 [GRCh38] Chr8:87163770 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.130+31G>A	single nucleotide variant	not provided [RCV001641079]	Chr8:86099139 [GRCh38] Chr8:87111368 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.131-310G>A	single nucleotide variant	not provided [RCV001598164]	Chr8:86113399 [GRCh38] Chr8:87125628 [GRCh37] Chr8:8q21.3	benign
GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1	copy number loss	not provided [RCV002472864]	Chr8:87010235..91879538 [GRCh37] Chr8:8q21.3	uncertain significance
GRCh37/hg19 8q21.2-21.3(chr8:86841155-88126932)x1	copy number loss	not provided [RCV002473796]	Chr8:86841155..88126932 [GRCh37] Chr8:8q21.2-21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.817-240T>C	single nucleotide variant	not provided [RCV001608592]	Chr8:86151226 [GRCh38] Chr8:87163455 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.207_208del	deletion	not provided [RCV001636175]	Chr8:86153184..86153185 [GRCh38] Chr8:87165413..87165414 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.816+273G>A	single nucleotide variant	not provided [RCV001637286]	Chr8:86150561 [GRCh38] Chr8:87162790 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.561+146C>T	single nucleotide variant	not provided [RCV001715172]	Chr8:86141675 [GRCh38] Chr8:87153904 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.891+215_891+217del	deletion	not provided [RCV001686532]	Chr8:86151753..86151755 [GRCh38] Chr8:87163982..87163984 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.302+270del	deletion	not provided [RCV001637504]	Chr8:86114140 [GRCh38] Chr8:87126369 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.817-245dup	duplication	not provided [RCV001656726]	Chr8:86151220..86151221 [GRCh38] Chr8:87163449..87163450 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.639+100del	deletion	not provided [RCV001674285]	Chr8:86143046 [GRCh38] Chr8:87155275 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.562-69G>A	single nucleotide variant	not provided [RCV001654574]	Chr8:86142808 [GRCh38] Chr8:87155037 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.130+44dup	duplication	not provided [RCV001647829]	Chr8:86099139..86099140 [GRCh38] Chr8:87111368..87111369 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.303-80G>C	single nucleotide variant	not provided [RCV001693948]	Chr8:86139377 [GRCh38] Chr8:87151606 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.892-159T>C	single nucleotide variant	not provided [RCV001533955]	Chr8:86152657 [GRCh38] Chr8:87164886 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.640-243T>A	single nucleotide variant	not provided [RCV001609906]	Chr8:86149869 [GRCh38] Chr8:87162098 [GRCh37] Chr8:8q21.3	benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	copy number gain	Polydactyly [RCV002280629]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	copy number gain	See cases [RCV002285066]	Chr8:84712253..146295771 [GRCh37] Chr8:8q21.2-24.3	pathogenic
NM_152565.1(ATP6V0D2):c.891+215_891+218del	microsatellite	not provided [RCV001615399]	Chr8:86151748..86151751 [GRCh38] Chr8:87163977..87163980 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.892-34T>C	single nucleotide variant	not provided [RCV001652226]	Chr8:86152782 [GRCh38] Chr8:87165011 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.814G>A (p.Gly272Arg)	single nucleotide variant	not provided [RCV001617742]	Chr8:86150286 [GRCh38] Chr8:87162515 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.302+42G>A	single nucleotide variant	not provided [RCV001687919]	Chr8:86113922 [GRCh38] Chr8:87126151 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.817-199C>A	single nucleotide variant	not provided [RCV001674273]	Chr8:86151267 [GRCh38] Chr8:87163496 [GRCh37] Chr8:8q21.3	benign
NM_152565.1(ATP6V0D2):c.891+215C>T	single nucleotide variant	not provided [RCV001753091]	Chr8:86151755 [GRCh38] Chr8:87163984 [GRCh37] Chr8:8q21.3	likely benign
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	copy number gain	not specified [RCV002053772]	Chr8:70382990..146295771 [GRCh37] Chr8:8q13.2-24.3	pathogenic
GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	copy number loss	not specified [RCV002053776]	Chr8:77906471..88917707 [GRCh37] Chr8:8q21.11-21.3	pathogenic
NC_000008.10:g.(?_86053597)_(87755855_?)dup	duplication	not provided [RCV003119954]	Chr8:86053597..87755855 [GRCh37] Chr8:8q21.2-21.3	uncertain significance
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	copy number gain	not provided [RCV002474526]	Chr8:79409349..119040631 [GRCh37] Chr8:8q21.12-24.11	pathogenic
NM_152565.1(ATP6V0D2):c.529A>C (p.Asn177His)	single nucleotide variant	Inborn genetic diseases [RCV002858896]	Chr8:86141497 [GRCh38] Chr8:87153726 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.934G>A (p.Gly312Ser)	single nucleotide variant	Inborn genetic diseases [RCV002970431]	Chr8:86152858 [GRCh38] Chr8:87165087 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.1022C>T (p.Thr341Ile)	single nucleotide variant	Inborn genetic diseases [RCV002870510]	Chr8:86152946 [GRCh38] Chr8:87165175 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.256C>T (p.Arg86Trp)	single nucleotide variant	Inborn genetic diseases [RCV002759651]	Chr8:86113834 [GRCh38] Chr8:87126063 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.733G>T (p.Gly245Cys)	single nucleotide variant	Inborn genetic diseases [RCV002698097]	Chr8:86150205 [GRCh38] Chr8:87162434 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.809A>G (p.His270Arg)	single nucleotide variant	Inborn genetic diseases [RCV002984571]	Chr8:86150281 [GRCh38] Chr8:87162510 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.874G>A (p.Val292Met)	single nucleotide variant	Inborn genetic diseases [RCV002813083]	Chr8:86151523 [GRCh38] Chr8:87163752 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.200T>C (p.Val67Ala)	single nucleotide variant	Inborn genetic diseases [RCV002900815]	Chr8:86113778 [GRCh38] Chr8:87126007 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.758G>A (p.Arg253Gln)	single nucleotide variant	Inborn genetic diseases [RCV002669451]	Chr8:86150230 [GRCh38] Chr8:87162459 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.329T>C (p.Ile110Thr)	single nucleotide variant	Inborn genetic diseases [RCV003279492]	Chr8:86139483 [GRCh38] Chr8:87151712 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.29A>G (p.Asn10Ser)	single nucleotide variant	Inborn genetic diseases [RCV003215792]	Chr8:86099007 [GRCh38] Chr8:87111236 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.454A>G (p.Asn152Asp)	single nucleotide variant	Inborn genetic diseases [RCV003211601]	Chr8:86139608 [GRCh38] Chr8:87151837 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.962A>G (p.Lys321Arg)	single nucleotide variant	Inborn genetic diseases [RCV003210625]	Chr8:86152886 [GRCh38] Chr8:87165115 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.209T>C (p.Ile70Thr)	single nucleotide variant	Inborn genetic diseases [RCV003305288]	Chr8:86113787 [GRCh38] Chr8:87126016 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.499T>G (p.Cys167Gly)	single nucleotide variant	Inborn genetic diseases [RCV003310513]	Chr8:86141467 [GRCh38] Chr8:87153696 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.823A>G (p.Lys275Glu)	single nucleotide variant	Inborn genetic diseases [RCV003340395]	Chr8:86151472 [GRCh38] Chr8:87163701 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.440C>T (p.Pro147Leu)	single nucleotide variant	Inborn genetic diseases [RCV003341026]	Chr8:86139594 [GRCh38] Chr8:87151823 [GRCh37] Chr8:8q21.3	uncertain significance
NM_152565.1(ATP6V0D2):c.743A>G (p.Tyr248Cys)	single nucleotide variant	Inborn genetic diseases [RCV003350571]	Chr8:86150215 [GRCh38] Chr8:87162444 [GRCh37] Chr8:8q21.3	uncertain significance
GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	copy number loss	not provided [RCV003483033]	Chr8:86955187..94955826 [GRCh37] Chr8:8q21.3-22.1	uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	copy number gain	not provided [RCV003484742]	Chr8:79046933..102008860 [GRCh37] Chr8:8q21.12-22.3	pathogenic
GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	copy number loss	not provided [RCV003483032]	Chr8:84127576..98263585 [GRCh37] Chr8:8q21.13-22.1	pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	copy number gain	not specified [RCV003986742]	Chr8:158048..146295771 [GRCh37] Chr8:8p23.3-q24.3	pathogenic
GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3	copy number gain	not specified [RCV003986766]	Chr8:85339090..89534521 [GRCh37] Chr8:8q21.2-21.3	uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	copy number gain	not specified [RCV003986754]	Chr8:27024288..89410121 [GRCh37] Chr8:8p21.2-q21.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	768
Count of miRNA genes:	518
Interacting mature miRNAs:	544
Transcripts:	ENST00000285393, ENST00000521564, ENST00000523635
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

ATP6V0D2__4396

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	87,165,772 - 87,166,510	UniSTS	GRCh37
Build 36	8	87,234,888 - 87,235,626	RGD	NCBI36
Celera	8	83,360,035 - 83,360,773	RGD
HuRef	8	82,375,316 - 82,376,059	UniSTS

ATP6V0D2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	87,111,221 - 87,111,333	UniSTS	GRCh37
Celera	8	83,305,589 - 83,305,701	UniSTS
HuRef	8	82,320,839 - 82,320,951	UniSTS

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

adipose tissue

appendage

entire extraembryonic component

High

Medium

170

Low

414

174

180

231

233

164

581

123

139

Below cutoff

754

805

856

202

645

165

1657

512

2058

103

834

780

632

850

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_152565	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC023194	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC084128	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK096027	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY079172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065207	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000285393 ⟹ ENSP00000285393

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	86,098,910 - 86,154,225 (+)	Ensembl

RefSeq Acc Id:

ENST00000521564 ⟹ ENSP00000429731

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	85,987,323 - 86,099,086 (+)	Ensembl

RefSeq Acc Id:

ENST00000523635 ⟹ ENSP00000428382

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	86,073,889 - 86,099,108 (+)	Ensembl

RefSeq Acc Id:

NM_152565 ⟹ NP_689778

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	86,098,910 - 86,154,225 (+)	NCBI
GRCh37	8	87,111,139 - 87,166,454 (+)	RGD
Build 36	8	87,180,255 - 87,235,570 (+)	NCBI Archive
Celera	8	83,305,507 - 83,360,717 (+)	RGD
HuRef	8	82,320,757 - 82,376,003 (+)	RGD
CHM1_1	8	87,152,442 - 87,207,669 (+)	NCBI
T2T-CHM13v2.0	8	87,216,307 - 87,271,615 (+)	NCBI

Sequence:

show sequence

GCAAATCTTCAGGGGCCGTCCAGGACTACAGAGCTGTTTCACCCTACCTTGGCTTCAATCTCTT
CCCCCATGCTCGAAGGTGCGGAGCTGTACTTCAACGTGGACCATGGCTACCTGGAGGGCCTGGT
TCGAGGATGCAAGGCCAGCCTCCTGACCCAGCAAGACTATATCAACCTGGTCCAGTGTGAGACC
CTAGAAGACCTGAAAATTCATCTCCAGACTACTGATTATGGTAACTTTTTGGCTAATCACACAA
ATCCTCTTACTGTTTCCAAAATTGACACTGAGATGAGGAAAAGACTATGTGGAGAATTTGAGTA
TTTCCGGAATCATTCCCTGGAGCCCCTCAGCACATTTCTCACCTATATGACGTGCAGTTATATG
ATAGACAATGTGATTCTGCTGATGAATGGTGCATTGCAGAAAAAATCTGTGAAAGAAATTCTGG
GGAAGTGCCACCCCTTGGGCCGTTTCACAGAAATGGAAGCTGTCAACATTGCAGAGACACCTTC
AGATCTCTTTAATGCCATTCTGATCGAAACGCCATTAGCTCCATTCTTCCAAGACTGCATGTCT
GAAAATGCTCTAGATGAACTGAATATTGAATTGCTACGCAATAAACTATACAAGTCTTACCTTG
AGGCATTCTATAAATTCTGTAAGAATCATGGTGATGTCACAGCAGAAGTTATGTGTCCCATTCT
TGAGTTTGAGGCCGACAGACGTGCTTTTATCATCACTCTTAACTCCTTTGGCACTGAATTGAGC
AAAGAAGACCGAGAGACCCTCTATCCAACCTTCGGCAAACTCTATCCTGAGGGGTTGCGGCTGT
TGGCTCAAGCAGAAGACTTTGACCAGATGAAGAACGTAGCGGATCATTACGGAGTATACAAACC
TTTATTTGAAGCTGTAGGTGGCAGTGGGGGAAAGACATTGGAGGACGTGTTTTACGAGCGTGAG
GTACAAATGAATGTGCTGGCATTCAACAGACAGTTCCACTACGGTGTGTTTTATGCATATGTAA
AGCTGAAGGAACAGGAAATTAGAAATATTGTGTGGATAGCAGAATGTATTTCACAGAGGCATCG
AACTAAAATCAACAGTTACATTCCAATTTTATAACCCAAGTAAGGTTCTCAAATGTAGAAAATT
ATAAATGTTAAAAGGAAGTTATTGAAGAAAATAAAAGAAATTATGTTATATTATCTAGACTACA
CAAAAGTAAGCCACACTATATCTTCATGAGTTGCAAATCCATGGAAACACAGTAAACCAGCCCT
GAAACAAAGCATTTCCTTGTTTTCAGTGGTATTAGATCTTGTTTCCACATGTCTGTCTCATTCT
TCACTGGGCCTTACAGGTTAGTTTTAATTAACTCTATGGTATTTTTCTTATTCTTGTTTGATCA
TGTTAAAAATTGGACCTAATAAAAGTATTTTATTCTTGCTTTTCCATGCTTCTCTACAGGTCCA
AATACTGAATGTCTCCTTTACTTTTTCTCTTTTAAATTTTTTTCTAGACAGGGTCTCACTCTGT
CACCTAGGCTACAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTCGACTTCCCAGGCTCAAG
TGATCCTCCCAGCTCTCAGCCTCCAAAGTAGCTGGCACTACAAGTGTACACCCCCACACAAGGC
TAAGTTTTGTATTTTTTGTAGAGACAGGGTTTCAACATATTATCCAGGCTGGTGTCGAATTCCT
GGGCTCCAGGGATCCACAGTCCCCCTTGGCCTCCCAAAGTGTTGGGATTACATGCATGAGCCAC
TGTGCTGGGCTTCATTTACATTTTAACTGTCTGTTCCTTGCCTAGATTCACAGAAATCCAAAGC
TGTATGTAGTCAACATGGTTCACAAGTGTTGGAAAATGTGTTTTTTGTTTTGTTTTGTTTTGTT
TCGTTTTGTTTTGAGACAGAGTTTCCCTCTGTCGCCCAGGCTAGAGTGCAATGGCGTGATCTCG
GCTCACTGCAACCTCCACCTCCCAGATTCAAGCAACTCTCTGCCTCAGCCTCCCGAGTAGCTGG
GATTACAAGCACCCACCACTACACTCAGCTAATTTTTTGTATTTTTAGTAGAGCCGGGGTTTCA
CCATCTTGGCCAGGCTGATCTTGAACTCCTGAGCTCATGATCCACCCGCCTCAGCCTCCCAAAG
TGCTGGGATTACAGGCCCCTTGTTCAGCCACTGCACCTGGCCCCTTATTTTGTTTTTGTTTTCT
AATATACTTTGATGTAATCAGCTTGAGAAAGCAACACAATTTCAAATCCTATCTTCTAGATGCA
AGCAGTGTTAAATTTGTTAATAAATTTGCTTTTCACACCTTTCTTTAAATAAAAGGTATATCTC
TC

hide sequence

Protein Sequences


Protein RefSeqs	NP_689778	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH65207	(Get FASTA)	NCBI Sequence Viewer
	AAL87000	(Get FASTA)	NCBI Sequence Viewer
	BAC04679	(Get FASTA)	NCBI Sequence Viewer
	EAW91631	(Get FASTA)	NCBI Sequence Viewer
	EAW91632	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000285393
	ENSP00000285393.3
	ENSP00000428382.1
	ENSP00000429731.1
GenBank Protein	Q8N8Y2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_689778 ⟸ NM_152565

- UniProtKB:

Q8N8Y2 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MLEGAELYFNVDHGYLEGLVRGCKASLLTQQDYINLVQCETLEDLKIHLQTTDYGNFLANHTNP
LTVSKIDTEMRKRLCGEFEYFRNHSLEPLSTFLTYMTCSYMIDNVILLMNGALQKKSVKEILGK
CHPLGRFTEMEAVNIAETPSDLFNAILIETPLAPFFQDCMSENALDELNIELLRNKLYKSYLEA
FYKFCKNHGDVTAEVMCPILEFEADRRAFIITLNSFGTELSKEDRETLYPTFGKLYPEGLRLLA
QAEDFDQMKNVADHYGVYKPLFEAVGGSGGKTLEDVFYEREVQMNVLAFNRQFHYGVFYAYVKL
KEQEIRNIVWIAECISQRHRTKINSYIPIL

hide sequence

RefSeq Acc Id:

ENSP00000285393 ⟸ ENST00000285393

RefSeq Acc Id:

ENSP00000429731 ⟸ ENST00000521564

RefSeq Acc Id:

ENSP00000428382 ⟸ ENST00000523635

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8N8Y2-F1-model_v2	AlphaFold	Q8N8Y2	1-350	view protein structure

Promoters

RGD ID:

7213693

Promoter ID:

EPDNEW_H12592

Type:

initiation region

Name:

ATP6V0D2_1

Description:

ATPase H+ transporting V0 subunit d2

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	86,098,910 - 86,098,970	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18266	AgrOrtholog
COSMIC	ATP6V0D2	COSMIC
Ensembl Genes	ENSG00000147614	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000285393	ENTREZGENE
	ENST00000285393.4	UniProtKB/Swiss-Prot
	ENST00000521564.1	UniProtKB/TrEMBL
	ENST00000523635.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.132.50	UniProtKB/Swiss-Prot
	1.20.1690.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000147614	GTEx
HGNC ID	HGNC:18266	ENTREZGENE
Human Proteome Map	ATP6V0D2	Human Proteome Map
InterPro	ATPase_su_C-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ATPase_V0-cplx_csu/dsu	UniProtKB/Swiss-Prot
	ATPase_V0-cplx_dsu	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	V-type_ATPase_su_c/d_dom_3	UniProtKB/Swiss-Prot
	V-type_ATPase_suC	UniProtKB/Swiss-Prot
KEGG Report	hsa:245972	UniProtKB/Swiss-Prot
NCBI Gene	245972	ENTREZGENE
OMIM	618072	OMIM
PANTHER	PTHR11028	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	V-TYPE PROTON ATPASE SUBUNIT D 2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	vATP-synt_AC39	UniProtKB/Swiss-Prot
PharmGKB	PA38516	PharmGKB
PIRSF	V-ATP_synth_D	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF103486	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	E5RHJ7_HUMAN	UniProtKB/TrEMBL
	E5RIR3_HUMAN	UniProtKB/TrEMBL
	Q8N8Y2	ENTREZGENE, UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-16	ATP6V0D2	ATPase H+ transporting V0 subunit d2		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - KEGG (archival)

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - KEGG (archival)