VPS52 (VPS52 subunit of GARP complex)

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Gene: VPS52 (VPS52 subunit of GARP complex) Homo sapiens

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Symbol:

VPS52

Name:

VPS52 subunit of GARP complex

RGD ID:

1604402

HGNC Page

HGNC:10518

Description:

Enables syntaxin binding activity. Involved in endocytic recycling. Acts upstream of or within lysosomal transport. Located in several cellular components, including Golgi apparatus; perinuclear region of cytoplasm; and recycling endosome. Part of EARP complex and GARP complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ARE1; dJ1033B10.5; DKFZp547I194; RP5-1033B10; SAC2; SAC2 suppressor of actin mutations 2-like protein; SACM2L; vacuolar protein sorting 52 homolog; vacuolar protein sorting-associated protein 52 homolog; VPS52 GARP complex subunit; VPS52, GARP complex subunit

RGD Orthologs

Alliance Orthologs

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):	Vps52 (VPS52 GARP complex subunit)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Vps52 (VPS52 subunit of GARP complex)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Vps52 (VPS52 subunit of GARP complex)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	VPS52 (VPS52 subunit of GARP complex)	NCBI	Ortholog
Canis lupus familiaris (dog):	VPS52 (VPS52 subunit of GARP complex)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Vps52 (VPS52 subunit of GARP complex)	NCBI	Ortholog
Sus scrofa (pig):	VPS52 (VPS52 subunit of GARP complex)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	VPS52 (VPS52 subunit of GARP complex)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Vps52 (VPS52 subunit of GARP complex)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Vps52 (VPS52 subunit of GARP complex)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Vps52 (VPS52 GARP complex subunit)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	vps52 (VPS52 subunit of GARP complex)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	VPS52	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Drosophila melanogaster (fruit fly):	Vps52	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	vps-52	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	vps52	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	vps52.L	Alliance	DIOPT (Xenbase)

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	6	33,250,272 - 33,271,965 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	33,250,272 - 33,272,047 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	33,218,049 - 33,239,742 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	33,326,027 - 33,347,640 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	6	34,772,418 - 34,794,017 (-)	NCBI		Celera
Cytogenetic Map	6	p21.32	NCBI
HuRef	6	32,960,078 - 32,981,319 (-)	NCBI		HuRef
CHM1_1	6	33,220,041 - 33,241,595 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	33,071,634 - 33,093,327 (-)	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

autosomal dominant intellectual developmental disorder 5 (IAGP)

MHC class I deficiency (IAGP)

Prostatic Neoplasms (EXP)

proteasome-associated autoinflammatory syndrome 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

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

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

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

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (ISO)

5-fluorouracil (EXP)

acrylamide (EXP)

Aflatoxin B2 alpha (EXP)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

arsane (EXP)

arsenic atom (EXP)

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

butanal (EXP)

cisplatin (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

D-gluconic acid (ISO)

decabromodiphenyl ether (ISO)

dexamethasone (EXP)

Dibutyl phosphate (EXP)

dicrotophos (EXP)

dorsomorphin (EXP)

ethanol (ISO)

genistein (ISO)

indometacin (EXP)

ivermectin (EXP)

methapyrilene (EXP)

paracetamol (EXP,ISO)

pirinixic acid (ISO)

SB 431542 (EXP)

sevoflurane (ISO)

sodium arsenite (EXP)

thiram (EXP)

urethane (EXP)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

ectodermal cell differentiation (IEA,ISO)

embryonic ectodermal digestive tract development (IEA,ISO)

endocytic recycling (IBA,IMP,NAS)

Golgi to vacuole transport (IBA)

lysosomal transport (IBA,IDA)

protein targeting (IEA)

protein transport (IEA)

retrograde transport, endosome to Golgi (IBA,NAS)

vesicle-mediated cholesterol transport (IEA)

Cellular Component

cytosol (IEA)

EARP complex (IDA,IPI)

endosome (IEA)

endosome membrane (IEA)

GARP complex (IBA,IDA,NAS)

Golgi apparatus (IDA,IEA)

membrane (IDA,IEA)

perinuclear region of cytoplasm (IDA)

postsynapse (IEA,ISO)

presynapse (IEA,ISO)

recycling endosome (IDA,IEA,NAS)

trans-Golgi network membrane (TAS)

Molecular Function

protein binding (IPI)

syntaxin binding (IBA,IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8125298	PMID:9790748	PMID:10452889	PMID:12210484	PMID:12366783	PMID:12477932	PMID:14574404	PMID:14702039	PMID:15489334	PMID:15878329	PMID:18367545	PMID:18985028
PMID:19620288	PMID:19851445	PMID:20163565	PMID:20685960	PMID:21078624	PMID:21516116	PMID:21873635	PMID:22939629	PMID:23932592	PMID:24722188	PMID:25269472	PMID:25416956
PMID:25544563	PMID:25799061	PMID:25921289	PMID:26186194	PMID:26472760	PMID:26485645	PMID:26496610	PMID:26673895	PMID:26871637	PMID:26949251	PMID:27440922	PMID:27803151
PMID:27889639	PMID:28330616	PMID:28514442	PMID:28542518	PMID:28718761	PMID:28791438	PMID:28973533	PMID:29180619	PMID:29509190	PMID:29560723	PMID:29576527	PMID:29778605
PMID:29892012	PMID:30463901	PMID:30745168	PMID:31010829	PMID:31073040	PMID:31091453	PMID:31240132	PMID:31515488	PMID:31533953	PMID:31678930	PMID:31753913	PMID:31871319
PMID:32296183	PMID:32513696	PMID:32694731	PMID:32877691	PMID:33961781	PMID:34011540	PMID:34079125	PMID:34369648	PMID:34373451	PMID:34672954	PMID:35013218	PMID:35241646
PMID:35256949	PMID:35439318	PMID:35831314	PMID:35844135	PMID:35944360	PMID:36215168	PMID:36217029	PMID:36538041	PMID:36634849	PMID:36724073	PMID:37827155

Genomics

Comparative Map Data

VPS52
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	33,250,272 - 33,271,965 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	33,250,272 - 33,272,047 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	33,218,049 - 33,239,742 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	33,326,027 - 33,347,640 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	6	34,772,418 - 34,794,017 (-)	NCBI		Celera
Cytogenetic Map	6	p21.32	NCBI
HuRef	6	32,960,078 - 32,981,319 (-)	NCBI		HuRef
CHM1_1	6	33,220,041 - 33,241,595 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	33,071,634 - 33,093,327 (-)	NCBI		T2T-CHM13v2.0

Vps52
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	34,174,753 - 34,186,012 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	34,174,786 - 34,186,009 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	33,955,779 - 33,967,038 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	33,955,812 - 33,967,035 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	34,092,827 - 34,103,433 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	33,566,266 - 33,577,438 (+)	NCBI		MGSCv36	mm8
Celera	17	36,708,772 - 36,718,743 (+)	NCBI		Celera
Cytogenetic Map	17	B1	NCBI
cM Map	17	17.98	NCBI

Vps52
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	4,922,599 - 4,933,458 (-)	NCBI		GRCr8
mRatBN7.2	20	4,920,715 - 4,931,685 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	4,860,843 - 4,931,665 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	5,645,463 - 5,655,060 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	5,007,208 - 5,016,805 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	5,487,922 - 5,497,595 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	5,431,997 - 5,441,736 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	5,432,004 - 5,441,706 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	7,490,616 - 7,500,348 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	5,073,753 - 5,083,339 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	5,074,730 - 5,083,444 (-)	NCBI
Celera	20	6,506,237 - 6,515,816 (-)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

Vps52
(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_004955437	1,820,817 - 1,833,363 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	1,820,355 - 1,833,615 (-)	NCBI	ChiLan1.0	ChiLan1.0

VPS52
(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	5	47,728,005 - 47,749,819 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	43,599,681 - 43,621,467 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	32,822,394 - 32,844,120 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	33,936,683 - 33,958,404 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	33,936,683 - 33,958,404 (-)	Ensembl	panpan1.1		panPan2

VPS52
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	2,697,508 - 2,712,831 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	2,697,508 - 2,712,831 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	2,778,649 - 2,793,972 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	3,028,483 - 3,043,812 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	3,028,488 - 3,043,823 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	2,696,593 - 2,711,699 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	2,777,932 - 2,793,204 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	2,852,572 - 2,867,899 (-)	NCBI		UU_Cfam_GSD_1.0

Vps52
(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_024404946	38,348,223 - 38,366,057 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936476	25,594,114 - 25,612,066 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936476	25,594,168 - 25,612,044 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

VPS52
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	29,624,230 - 29,639,140 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	29,624,224 - 29,639,168 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	34,127,990 - 34,142,475 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

VPS52
(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	17	38,805,072 - 38,824,526 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	38,805,355 - 38,825,383 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	33,087,431 - 33,107,067 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Vps52
(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_004624754	23,548,998 - 23,563,931 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624754	23,549,033 - 23,563,756 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in VPS52
42 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_022553.5(VPS52):c.148G>A (p.Asp50Asn)	single nucleotide variant	Malignant melanoma [RCV000067316]	Chr6:33270226 [GRCh38] Chr6:33238003 [GRCh37] Chr6:33345981 [NCBI36] Chr6:6p21.32	not provided
NM_022553.5(VPS52):c.1675G>T (p.Glu559Ter)	single nucleotide variant	Malignant melanoma [RCV000061406]	Chr6:33263825 [GRCh38] Chr6:33231602 [GRCh37] Chr6:33339580 [NCBI36] Chr6:6p21.32	not provided
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_022553.6(VPS52):c.691C>T (p.Arg231Trp)	single nucleotide variant	not specified [RCV004326410]	Chr6:33268507 [GRCh38] Chr6:33236284 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.163G>C (p.Asp55His)	single nucleotide variant	not specified [RCV004282570]	Chr6:33270211 [GRCh38] Chr6:33237988 [GRCh37] Chr6:6p21.32	uncertain significance
NC_000006.11:g.(?_33131435)_(33419703_?)dup	duplication	Intellectual disability, autosomal dominant 5 [RCV000817954]	Chr6:33163658..33451926 [GRCh38] Chr6:33131435..33419703 [GRCh37] Chr6:6p21.32	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
NM_022553.6(VPS52):c.1173C>T (p.Asp391=)	single nucleotide variant	not provided [RCV000949508]	Chr6:33266665 [GRCh38] Chr6:33234442 [GRCh37] Chr6:6p21.32	benign
NM_022553.6(VPS52):c.1282-10A>T	single nucleotide variant	not provided [RCV000964269]	Chr6:33264910 [GRCh38] Chr6:33232687 [GRCh37] Chr6:6p21.32	benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
NM_022553.6(VPS52):c.373C>T (p.Arg125Ter)	single nucleotide variant	not provided [RCV002280221]	Chr6:33269189 [GRCh38] Chr6:33236966 [GRCh37] Chr6:6p21.32	uncertain significance
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	copy number gain	not provided [RCV001005791]	Chr6:31036397..34088832 [GRCh37] Chr6:6p21.33-21.31	likely pathogenic
NM_022553.6(VPS52):c.1161C>T (p.Tyr387=)	single nucleotide variant	not provided [RCV000955357]	Chr6:33266677 [GRCh38] Chr6:33234454 [GRCh37] Chr6:6p21.32	benign
NC_000006.12:g.(?_33173681)_(33451926_?)dup	duplication	Intellectual disability, autosomal dominant 5 [RCV001032258]	Chr6:33141458..33419703 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.64G>A (p.Asp22Asn)	single nucleotide variant	not provided [RCV002280220]	Chr6:33271612 [GRCh38] Chr6:33239389 [GRCh37] Chr6:6p21.32	uncertain significance
GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	copy number gain	not specified [RCV002053566]	Chr6:33069892..33751391 [GRCh37] Chr6:6p21.32-21.31	uncertain significance
NC_000006.11:g.(?_30695893)_(36953949_?)dup	duplication	Proteasome-associated autoinflammatory syndrome 1 [RCV003113679]	Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2	uncertain significance
NM_022553.6(VPS52):c.1499G>T (p.Gly500Val)	single nucleotide variant	not specified [RCV004142098]	Chr6:33264399 [GRCh38] Chr6:33232176 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.470G>A (p.Arg157Gln)	single nucleotide variant	not specified [RCV004237062]	Chr6:33269092 [GRCh38] Chr6:33236869 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1567A>G (p.Ile523Val)	single nucleotide variant	not specified [RCV004158925]	Chr6:33264061 [GRCh38] Chr6:33231838 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.48G>T (p.Leu16Phe)	single nucleotide variant	not specified [RCV004125269]	Chr6:33271628 [GRCh38] Chr6:33239405 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1391C>T (p.Ala464Val)	single nucleotide variant	not specified [RCV004119575]	Chr6:33264791 [GRCh38] Chr6:33232568 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1197C>A (p.Phe399Leu)	single nucleotide variant	not specified [RCV004112233]	Chr6:33266641 [GRCh38] Chr6:33234418 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1045A>G (p.Thr349Ala)	single nucleotide variant	not specified [RCV004238174]	Chr6:33267268 [GRCh38] Chr6:33235045 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1555G>A (p.Ala519Thr)	single nucleotide variant	not specified [RCV004080294]	Chr6:33264073 [GRCh38] Chr6:33231850 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.685C>T (p.Arg229Trp)	single nucleotide variant	not specified [RCV004102714]	Chr6:33268513 [GRCh38] Chr6:33236290 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.927G>C (p.Lys309Asn)	single nucleotide variant	not specified [RCV004177568]	Chr6:33267871 [GRCh38] Chr6:33235648 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1426C>G (p.Leu476Val)	single nucleotide variant	not specified [RCV004088245]	Chr6:33264472 [GRCh38] Chr6:33232249 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1303G>A (p.Ala435Thr)	single nucleotide variant	not specified [RCV004243913]	Chr6:33264879 [GRCh38] Chr6:33232656 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.924G>A (p.Met308Ile)	single nucleotide variant	not specified [RCV004125602]	Chr6:33267874 [GRCh38] Chr6:33235651 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.19A>G (p.Met7Val)	single nucleotide variant	not specified [RCV004102546]	Chr6:33271657 [GRCh38] Chr6:33239434 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.76G>A (p.Glu26Lys)	single nucleotide variant	not specified [RCV004234592]	Chr6:33271600 [GRCh38] Chr6:33239377 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.812A>G (p.Gln271Arg)	single nucleotide variant	not specified [RCV004072658]	Chr6:33267986 [GRCh38] Chr6:33235763 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.622G>A (p.Ala208Thr)	single nucleotide variant	not specified [RCV004185965]	Chr6:33268576 [GRCh38] Chr6:33236353 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1654G>A (p.Ala552Thr)	single nucleotide variant	not specified [RCV004153415]	Chr6:33263846 [GRCh38] Chr6:33231623 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.608A>G (p.Asp203Gly)	single nucleotide variant	not specified [RCV004157447]	Chr6:33268590 [GRCh38] Chr6:33236367 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.682G>T (p.Asp228Tyr)	single nucleotide variant	not specified [RCV004221935]	Chr6:33268516 [GRCh38] Chr6:33236293 [GRCh37] Chr6:6p21.32	uncertain significance
NC_000006.11:g.(?_32148920)_(36953949_?)dup	duplication	not provided [RCV003154914]	Chr6:32148920..36953949 [GRCh37] Chr6:6p21.32-21.2	uncertain significance
NM_022553.6(VPS52):c.769C>G (p.Gln257Glu)	single nucleotide variant	not specified [RCV004299703]	Chr6:33268139 [GRCh38] Chr6:33235916 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.602A>G (p.Glu201Gly)	single nucleotide variant	not specified [RCV004270249]	Chr6:33268596 [GRCh38] Chr6:33236373 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1928G>A (p.Arg643His)	single nucleotide variant	not specified [RCV004274129]	Chr6:33251615 [GRCh38] Chr6:33219392 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1070C>G (p.Thr357Ser)	single nucleotide variant	not specified [RCV004268322]	Chr6:33267243 [GRCh38] Chr6:33235020 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.917G>A (p.Arg306Gln)	single nucleotide variant	not specified [RCV004290150]	Chr6:33267881 [GRCh38] Chr6:33235658 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1166T>C (p.Leu389Pro)	single nucleotide variant	not specified [RCV004338546]	Chr6:33266672 [GRCh38] Chr6:33234449 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.2084C>T (p.Pro695Leu)	single nucleotide variant	not specified [RCV004484892]	Chr6:33250929 [GRCh38] Chr6:33218706 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.8C>T (p.Ala3Val)	single nucleotide variant	not specified [RCV004484894]	Chr6:33271668 [GRCh38] Chr6:33239445 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.92C>T (p.Ala31Val)	single nucleotide variant	not specified [RCV004484895]	Chr6:33270282 [GRCh38] Chr6:33238059 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.157A>T (p.Ile53Phe)	single nucleotide variant	not specified [RCV004484890]	Chr6:33270217 [GRCh38] Chr6:33237994 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1526T>G (p.Ile509Ser)	single nucleotide variant	not specified [RCV004484889]	Chr6:33264102 [GRCh38] Chr6:33231879 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.493C>T (p.Arg165Trp)	single nucleotide variant	not specified [RCV004484893]	Chr6:33269069 [GRCh38] Chr6:33236846 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1874G>A (p.Arg625His)	single nucleotide variant	not specified [RCV004484891]	Chr6:33251892 [GRCh38] Chr6:33219669 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1277C>T (p.Thr426Ile)	single nucleotide variant	not specified [RCV004683268]	Chr6:33266561 [GRCh38] Chr6:33234338 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.14C>T (p.Ala5Val)	single nucleotide variant	not specified [RCV004683269]	Chr6:33271662 [GRCh38] Chr6:33239439 [GRCh37] Chr6:6p21.32	uncertain significance
NM_022553.6(VPS52):c.1024A>G (p.Asn342Asp)	single nucleotide variant	not specified [RCV004683270]	Chr6:33267289 [GRCh38] Chr6:33235066 [GRCh37] Chr6:6p21.32	uncertain significance
NC_000006.11:g.(?_33131455)_(33388128_?)dup	duplication	MHC class I deficiency [RCV004578657]	Chr6:33131455..33388128 [GRCh37] Chr6:6p21.32	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3663
Count of miRNA genes:	1139
Interacting mature miRNAs:	1419
Transcripts:	ENST00000436044, ENST00000445902, ENST00000461743, ENST00000463486, ENST00000464425, ENST00000471309, ENST00000478934, ENST00000482399, ENST00000493379, ENST00000493674, ENST00000495755, ENST00000495981
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1358839	MULTSCL5_H	Multiple sclerosis susceptibility QTL 5 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human
407080580	GWAS729556_H	educational attainment QTL GWAS729556 (human)		5e-08	educational attainment		6	33266788	33266789	Human
1298431	RA11_H	Rheumatoid arthritis QTL 11 (human)		0.0000024	Joint/bone inflammation	rheumatoid arthritis	6	19911883	40191709	Human
1358857	MULTSCL19_H	Multiple sclerosis susceptibility QTL 19 (human)			Multiple sclerosis susceptibility		6	19584311	45584311	Human

Markers in Region

RH10585

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	88,215,385 - 88,215,614	UniSTS	GRCh37
GRCh37	6	33,218,144 - 33,218,372	UniSTS	GRCh37
Build 36	6	33,326,122 - 33,326,350	RGD	NCBI36
Celera	6	34,772,513 - 34,772,741	RGD
Celera	12	87,883,392 - 87,883,621	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
HuRef	12	85,282,578 - 85,282,807	UniSTS
HuRef	6	32,960,173 - 32,960,401	UniSTS

D6S2761

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,231,128 - 33,231,361	UniSTS	GRCh37
GRCh37	6	33,231,120 - 33,231,304	UniSTS	GRCh37
Build 36	6	33,339,098 - 33,339,282	RGD	NCBI36
Celera	6	34,785,489 - 34,785,673	RGD
Celera	6	34,785,497 - 34,785,730	UniSTS
HuRef	6	32,972,785 - 32,973,018	UniSTS
HuRef	6	32,972,777 - 32,972,961	UniSTS

G19781

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	88,215,385 - 88,215,614	UniSTS	GRCh37
GRCh37	6	33,218,144 - 33,218,372	UniSTS	GRCh37
Build 36	6	33,326,122 - 33,326,350	RGD	NCBI36
Celera	6	34,772,513 - 34,772,741	RGD
Celera	12	87,883,392 - 87,883,621	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
HuRef	12	85,282,578 - 85,282,807	UniSTS
HuRef	6	32,960,173 - 32,960,401	UniSTS

M2_2_3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,231,128 - 33,231,361	UniSTS	GRCh37
Build 36	6	33,339,106 - 33,339,339	RGD	NCBI36
Celera	6	34,785,497 - 34,785,730	RGD
Cytogenetic Map	6	p21.3	UniSTS
HuRef	6	32,972,785 - 32,973,018	UniSTS

Sacm2l

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	33,239,375 - 33,240,428	UniSTS	GRCh37
Celera	6	34,793,730 - 34,794,783	UniSTS
HuRef	6	32,981,032 - 32,982,085	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

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

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001289174	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001289175	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001289176	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_022553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011514797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011514798	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011514799	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017011177	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017011178	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017011179	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024446519	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054329849	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054329850	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054329851	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054329852	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330335	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330849	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330850	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054330851	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331113	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331371	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331372	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054331374	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356195	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356196	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054356198	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AJ006026	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ223319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK222867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299563	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL390171	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL559461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL645940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL713971	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL844527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW150166	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AX775737	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC032108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ022405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU167150	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX248408	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR547129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759786	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759817	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR762434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC395438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC400338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000445902 ⟹ ENSP00000409952

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,250,278 - 33,271,876 (-)	Ensembl

Ensembl Acc Id:

ENST00000461743

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,263,548 - 33,264,222 (-)	Ensembl

Ensembl Acc Id:

ENST00000463486

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,267,870 - 33,271,777 (-)	Ensembl

Ensembl Acc Id:

ENST00000464425

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,267,871 - 33,271,884 (-)	Ensembl

Ensembl Acc Id:

ENST00000471309

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,251,917 - 33,264,564 (-)	Ensembl

Ensembl Acc Id:

ENST00000478934

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,250,272 - 33,272,047 (-)	Ensembl

Ensembl Acc Id:

ENST00000482399 ⟹ ENSP00000436612

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,250,272 - 33,271,876 (-)	Ensembl

Ensembl Acc Id:

ENST00000493379

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,264,079 - 33,267,265 (-)	Ensembl

Ensembl Acc Id:

ENST00000493674

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,250,811 - 33,264,303 (-)	Ensembl

Ensembl Acc Id:

ENST00000495755

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,267,466 - 33,268,153 (-)	Ensembl

Ensembl Acc Id:

ENST00000495981

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	33,250,606 - 33,263,613 (-)	Ensembl

RefSeq Acc Id:

NM_001289174 ⟹ NP_001276103

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,250,278 - 33,271,876 (-)	NCBI
HuRef	6	32,960,078 - 32,981,399 (-)	NCBI
CHM1_1	6	33,220,041 - 33,241,675 (-)	NCBI
T2T-CHM13v2.0	6	33,071,640 - 33,093,238 (-)	NCBI

Sequence:

show sequence

AGTTTGTGTTTCAGACTTCCATATTTCCATTTGCAGTTGGGTGAAGTGGTTAGAGCTGAAAGGG
GACAGCTGGAGTCAAACAACTTAACTCAAATATCTGGGAACGATTTCGCGCTGAGGAAGACCCT
TTGGGACTTGTAGCTCCACTCCGGGGAACGGACTCGCCGGGACTGACAGTTGCCGGAAGTGAGG
CTGCGGGGAATGGCCGCCGCTGCGACCATGGCGGCTGCGGCCCGGGAACTGGTGTTGCGGGCTG
GGACCTCAGATATGGAGGAGGAAGAGGGCCCGCTGGTGAGAGCGCGGAGCTGTTTCTCCTCCGT
AGTTCCGGTGCTCCTAGCTTCAGAAAGACCTGAGCTGGGTTTAGGCACAAGGGTGGGAACTTGG
CTGCTACCCGTGATATTACCTGTTTGGCTCCCCGTACCCTTCCCTGTGATCAGACCCGACCCTG
AGCGGGACCCTAGTGGCTGAAACTCATGTTCTGGGGCACAAAATTTCAACTTCACTCCACATTT
TGGGGTAGAGTCACGAAGTAGTATAGTGTAAAGGTTAAGAACATGGCCTCTGAAGCCAGACTGC
CTGAGTTCTATCTCTGCCACTTACACGCTGTGTGCCCTTGGGCAAGTTAACCAGCTTCTCTGTG
CCATCATTTCTCACACCTTTAAGGTGAGGAAGATAGAACCTATTGTATACATCGTCGTTAGGAT
TAGATGAATATGTGTAAGATTGCACCTGGCATGCAGGCGGGTGGTCCTGGGCTCCAGGAACCAC
TGCAACTTGGGGAGTTGGATATCACTTCTGATGAATTCATCCTGGATGAAGTGGATGGGTGTAG
ATCTCCGTCACTATTCAAAGCAAGTTGAGCTGGAGCTACAGCAGATTGAACAGAAATCCATTCG
GGATTATATTCAAGAGAGTGAGAATATAGCATCTCTACACAACCAGATCACAGCCTGTGATGCT
GTCCTGGAGCGAATGGAGCAGATGTTGGGAGCTTTTCAGAGTGACCTCAGCTCCATCAGCTCTG
AGATCCGGACACTGCAGGAACAGTCAGGAGCCATGAACATTCGACTTCGAAATCGCCAGGCAGT
TCGGGGGAAACTTGGGGAGCTTGTTGATGGTCTGGTGGTGCCTTCTGCTCTGGTCACGGCAATT
CTGGAGGCTCCAGTGACAGAGCCCAGGTTCTTGGAGCAGCTACAGGAGCTGGATGCCAAGGCAG
CCGCAGTCAGAGAGCAGGAAGCTAGAGGCACAGCAGCCTGCGCAGATGTCAGAGGCGTGCTCGA
TCGGCTCCGGGTCAAGGCAGTGACGAAGATCCGAGAGTTTATCCTCCAGAAGATTTATTCCTTC
AGGAAACCCATGACCAACTATCAGATCCCCCAGACGGCCCTGCTGAAGTACAGGTTCTTCTATC
AGTTTCTGCTGGGCAATGAACGAGCAACAGCAAAGGAGATCAGGGATGAATATGTGGAGACGCT
GAGCAAGATTTACCTGTCTTACTACCGCTCTTACCTGGGGCGGCTCATGAAGGTGCAGTATGAG
GAAGTCGCTGAGAAAGATGATCTAATGGGTGTGGAAGATACAGCAAAGAAAGGATTCTTCTCAA
AGCCATCGCTCCGCAGCAGGAACACCATTTTCACCCTAGGAACCCGCGGCTCTGTCATCTCCCC
CACTGAACTTGAGGCCCCCATCCTGGTGCCTCACACAGCGCAGCGCGGAGAGCAGAGGTATCCA
TTTGAGGCCCTCTTCCGCAGCCAGCACTACGCCCTCCTAGACAATTCCTGCCGCGAATACCTTT
TCATCTGTGAATTTTTTGTTGTGTCTGGCCCAGCTGCACACGACCTGTTCCATGCTGTCATGGG
CCGTACACTCAGCATGACCCTGAAACACCTGGATTCTTATCTAGCTGACTGCTACGATGCCATT
GCTGTTTTTCTCTGTATCCACATTGTTCTCCGGTTCCGTAACATTGCAGCAAAGAGGGATGTTC
CTGCCCTGGACAGGTACTGGGAACAGGTGCTTGCCTTGCTATGGCCACGGTTTGAACTGATCCT
GGAGATGAATGTTCAGAGCGTCCGAAGCACTGACCCCCAGCGCCTAGGGGGGTTGGATACTCGG
CCCCACTATATCACACGCCGCTATGCAGAGTTCTCCTCCGCTCTTGTCAGTATCAACCAGACAA
TTCCTAATGAACGGACCATGCAATTGCTGGGACAGCTGCAGGTGGAGGTGGAGAATTTTGTCCT
CCGAGTGGCAGCTGAGTTCTCCTCAAGGAAGGAGCAGCTTGTGTTTCTGATCAACAACTATGAC
ATGATGCTGGGTGTGCTGATGGAGCGGGCTGCAGATGACAGCAAAGAGGTTGAGAGCTTCCAGC
AGCTGCTCAATGCTCGGACACAGGAATTCATTGAAGAGTTGCTGTCTCCCCCTTTTGGGGGTTT
AGTGGCATTTGTGAAGGAGGCTGAGGCTTTGATTGAGCGTGGACAGGCTGAGCGACTTCGAGGG
GAAGAAGCCCGGGTAACTCAGCTGATCCGTGGCTTTGGTAGTTCCTGGAAATCATCAGTGGAAT
CTCTGAGTCAGGATGTAATGCGGAGTTTCACCAACTTCAGAAATGGCACCAGTATCATTCAGGG
AGCGCTGACCCAGCTGATCCAGCTCTATCATCGCTTCCACCGGGTGCTGTCCCAGCCGCAGCTC
CGAGCCCTCCCTGCCCGGGCTGAGCTCATCAACATTCACCACCTTATGGTGGAGCTCAAGAAGC
ATAAGCCCAACTTCTGATGTGCCAGAAACCGCCCTGAGATCTGCCGGTCATCTCCATGGACTTC
TGCACCCCATTCCATACCCTTCTTCACCTGGGGTACCCCTTCCAGTTTTCCCCTTGCTTCCCAG
GCCCTTGACATGGCTTACCTGCCTTCACTCCCAGCACCTTGCCCAACAGGATAAGCTGGATCCC
CTTGGCCTTCTGAATATCCCAGTGTCTTCAGGTTTCCCAAGACCACTTCCCTGTGGGCTTCCAA
AATGGCCTTTATCATTTCTCCAGTCTGTCACCCTCCTTTCCTGCTCCCATACACCCAAGGCTTG
TTTCTTCCCCTGTAAAAACCACTGCCTCAATCTCTGGTTCACTCAACTAGTCACCATGTCCTGA
GGCATGAAGCCTCCTCAGCTCTTGGAATTGCTGGCAAGGGGTGACTGCCTCTGAGTCATTGTGT
TTTTCAAAGTGATTTCTTTTCTGTAGCTTTTTGACCTAAGATCTCAGCAATTTGAACACTAACC
TCTCCCCTCCTGGCTCAAGAATTACTCCGAAGTCAGTCTGCAGAAAATAAATATTTAGTATGAC
ATGA

hide sequence

RefSeq Acc Id:

NM_001289175 ⟹ NP_001276104

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,250,272 - 33,271,965 (-)	NCBI
HuRef	6	32,960,078 - 32,981,399 (-)	NCBI
CHM1_1	6	33,220,041 - 33,241,675 (-)	NCBI
T2T-CHM13v2.0	6	33,071,634 - 33,093,327 (-)	NCBI

Sequence:

show sequence

AGTATGGCTTGGGTACCACAACTTCCGGTGCGCCTTTCTTTACAGTTCGTAAGGTTCATAGGCG
GGTGGTCCTGGGCTCCAGGAACCACTGCAACTTGGGGAGTTGGATATCACTTCTGATGAATTCA
TCCTGGATGAAGTGGATGTTCACATTCAGGCAAATCTGGAGGATGAGTTAGTAAAGGAAGCTCT
TAAAACGGGTGTAGATCTCCGTCACTATTCAAAGCAAGTTGAGCTGGAGCTACAGCAGATTGAA
CAGAAATCCATTCGGGATTATATTCAAGAGAGTGAGAATATAGCATCTCTACACAACCAGATCA
CAGCCTGTGATGCTGTCCTGGAGCGAATGGAGCAGATGTTGGGAGCTTTTCAGAGTGACCTCAG
CTCCATCAGCTCTGAGATCCGGACACTGCAGGAACAGTCAGGAGCCATGAACATTCGACTTCGA
AATCGCCAGGCAGTTCGGGGGAAACTTGGGGAGCTTGTTGATGGTCTGGTGGTGCCTTCTGCTC
TGGTCACGGCAATTCTGGAGGCTCCAGTGACAGAGCCCAGGTTCTTGGAGCAGCTACAGGAGCT
GGATGCCAAGGCAGCCGCAGTCAGAGAGCAGGAAGCTAGAGGCACAGCAGCCTGCGCAGATGTC
AGAGGCGTGCTCGATCGGCTCCGGGTCAAGGCAGTGACGAAGATCCGAGAGTTTATCCTCCAGA
AGATTTATTCCTTCAGGAAACCCATGACCAACTATCAGATCCCCCAGACGGCCCTGCTGAAGTA
CAGGTTCTTCTATCAGTTTCTGCTGGGCAATGAACGAGCAACAGCAAAGGAGATCAGGGATGAA
TATGTGGAGACGCTGAGCAAGATTTACCTGTCTTACTACCGCTCTTACCTGGGGCGGCTCATGA
AGGTGCAGTATGAGGAAGTCGCTGAGAAAGATGATCTAATGGGTGTGGAAGATACAGCAAAGAA
AGGATTCTTCTCAAAGCCATCGCTCCGCAGCAGGAACACCATTTTCACCCTAGGAACCCGCGGC
TCTGTCATCTCCCCCACTGAACTTGAGGCCCCCATCCTGGTGCCTCACACAGCGCAGCGCGGAG
AGCAGAGGTATCCATTTGAGGCCCTCTTCCGCAGCCAGCACTACGCCCTCCTAGACAATTCCTG
CCGCGAATACCTTTTCATCTGTGAATTTTTTGTTGTGTCTGGCCCAGCTGCACACGACCTGTTC
CATGCTGTCATGGGCCGTACACTCAGCATGACCCTGAAACACCTGGATTCTTATCTAGCTGACT
GCTACGATGCCATTGCTGTTTTTCTCTGTATCCACATTGTTCTCCGGTTCCGTAACATTGCAGC
AAAGAGGGATGTTCCTGCCCTGGACAGGTACTGGGAACAGGTGCTTGCCTTGCTATGGCCACGG
TTTGAACTGATCCTGGAGATGAATGTTCAGAGCGTCCGAAGCACTGACCCCCAGCGCCTAGGGG
GGTTGGATACTCGGCCCCACTATATCACACGCCGCTATGCAGAGTTCTCCTCCGCTCTTGTCAG
TATCAACCAGACAATTCCTAATGAACGGACCATGCAATTGCTGGGACAGCTGCAGGTGGAGGTG
GAGAATTTTGTCCTCCGAGTGGCAGCTGAGTTCTCCTCAAGGAAGGAGCAGCTTGTGTTTCTGA
TCAACAACTATGACATGATGCTGGGTGTGCTGATGGAGCGGGCTGCAGATGACAGCAAAGAGGT
TGAGAGCTTCCAGCAGCTGCTCAATGCTCGGACACAGGAATTCATTGAAGAGTTGCTGTCTCCC
CCTTTTGGGGGTTTAGTGGCATTTGTGAAGGAGGCTGAGGCTTTGATTGAGCGTGGACAGGCTG
AGCGACTTCGAGGGGAAGAAGCCCGGGTAACTCAGCTGATCCGTGGCTTTGGTAGTTCCTGGAA
ATCATCAGTGGAATCTCTGAGTCAGGATGTAATGCGGAGTTTCACCAACTTCAGAAATGGCACC
AGTATCATTCAGGGAGCGCTGACCCAGCTGATCCAGCTCTATCATCGCTTCCACCGGGTGCTGT
CCCAGCCGCAGCTCCGAGCCCTCCCTGCCCGGGCTGAGCTCATCAACATTCACCACCTTATGGT
GGAGCTCAAGAAGCATAAGCCCAACTTCTGATGTGCCAGAAACCGCCCTGAGATCTGCCGGTCA
TCTCCATGGACTTCTGCACCCCATTCCATACCCTTCTTCACCTGGGGTACCCCTTCCAGTTTTC
CCCTTGCTTCCCAGGCCCTTGACATGGCTTACCTGCCTTCACTCCCAGCACCTTGCCCAACAGG
ATAAGCTGGATCCCCTTGGCCTTCTGAATATCCCAGTGTCTTCAGGTTTCCCAAGACCACTTCC
CTGTGGGCTTCCAAAATGGCCTTTATCATTTCTCCAGTCTGTCACCCTCCTTTCCTGCTCCCAT
ACACCCAAGGCTTGTTTCTTCCCCTGTAAAAACCACTGCCTCAATCTCTGGTTCACTCAACTAG
TCACCATGTCCTGAGGCATGAAGCCTCCTCAGCTCTTGGAATTGCTGGCAAGGGGTGACTGCCT
CTGAGTCATTGTGTTTTTCAAAGTGATTTCTTTTCTGTAGCTTTTTGACCTAAGATCTCAGCAA
TTTGAACACTAACCTCTCCCCTCCTGGCTCAAGAATTACTCCGAAGTCAGTCTGCAGAAAATAA
ATATTTAGTATGACATGACACTTAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001289176 ⟹ NP_001276105

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,250,272 - 33,271,965 (-)	NCBI
HuRef	6	32,960,078 - 32,981,399 (-)	NCBI
CHM1_1	6	33,220,041 - 33,241,675 (-)	NCBI
T2T-CHM13v2.0	6	33,071,634 - 33,093,327 (-)	NCBI

Sequence:

show sequence

AGTATGGCTTGGGTACCACAACTTCCGGTGCGCCTTTCTTTACAGTTCGTAAGGTTCATAGGCG
GGTGGTCCTGGGCTCCAGGAACCACTGCAACTTGGGGAGTTGGATATCACTTCTGATGAATTCA
TCCTGGATGAAGTGGATGTTCACATTCAGGCAAATCTGGAGGATGAGTTAGTAAAGGAAGCTCT
TAAAACGGGTGTAGATCTCCGTCACTATTCAAAGCAAGTTGAGCTGGAGCTACAGCAGATTGAA
CAGAAATCCATTCGGGATTATATTCAAGAGAGTGAGAATATAGCATCTCTACACAACCAGATCA
CAGCCTGTGATGCTGTCCTGGAGCGAATGGAGCAGATGTTGGGAGCTTTTCAGAGTGACCTCAG
CTCCATCAGCTCTGAGATCCGGACACTGCAGGAACAGTCAGGAGCCATGAACATTCGACTTCGA
AATCGCCAGGCAGTTCGGGGGAAACTTGGGGAGCTTGTTGATGGTCTGGTGGTGCCTTCTGCTC
TGGTCACGGCAATTCTGGAGGCTCCAGTGACAGAGCCCAGGTTCTTGGAGCAGCTACAGGAGCT
GGATGCCAAGGCAGCCGCAGTCAGAGAGCAGGAAGCTAGAGGCACAGCAGCCTGCGCAGATGTC
AGAGGCGTGCTCGATCGGCTCCGGGTCAAGGCAGTGACGAAGATCCGAGAGTTTATCCTCCAGA
AGATTTATTCCTTCAGGAAACCCATGACCAACTATCAGATCCCCCAGACGGCCCTGCTGAAGTA
CAGGTTCTTCTATCAGTTTCTGCTGGGCAATGAACGAGCAACAGCAAAGGAGATCAGGGATGAA
TATGTGGAGACGCTGAGCAAGATTTACCTGTCTTACTACCGCTCTTACCTGGGGCGGCTCATGA
AGGTGCAGTATCCATTTGAGGCCCTCTTCCGCAGCCAGCACTACGCCCTCCTAGACAATTCCTG
CCGCGAATACCTTTTCATCTGTGAATTTTTTGTTGTGTCTGGCCCAGCTGCACACGACCTGTTC
CATGCTGTCATGGGCCGTACACTCAGCATGACCCTGAAACACCTGGATTCTTATCTAGCTGACT
GCTACGATGCCATTGCTGTTTTTCTCTGTATCCACATTGTTCTCCGGTTCCGTAACATTGCAGC
AAAGAGGGATGTTCCTGCCCTGGACAGGTACTGGGAACAGGTGCTTGCCTTGCTATGGCCACGG
TTTGAACTGATCCTGGAGATGAATGTTCAGAGCGTCCGAAGCACTGACCCCCAGCGCCTAGGGG
GGTTGGATACTCGGCCCCACTATATCACACGCCGCTATGCAGAGTTCTCCTCCGCTCTTGTCAG
TATCAACCAGACAATTCCTAATGAACGGACCATGCAATTGCTGGGACAGCTGCAGGTGGAGGTG
GAGAATTTTGTCCTCCGAGTGGCAGCTGAGTTCTCCTCAAGGAAGGAGCAGCTTGTGTTTCTGA
TCAACAACTATGACATGATGCTGGGTGTGCTGATGGAGCGGGCTGCAGATGACAGCAAAGAGGT
TGAGAGCTTCCAGCAGCTGCTCAATGCTCGGACACAGGAATTCATTGAAGAGTTGCTGTCTCCC
CCTTTTGGGGGTTTAGTGGCATTTGTGAAGGAGGCTGAGGCTTTGATTGAGCGTGGACAGGCTG
AGCGACTTCGAGGGGAAGAAGCCCGGGTAACTCAGCTGATCCGTGGCTTTGGTAGTTCCTGGAA
ATCATCAGTGGAATCTCTGAGTCAGGATGTAATGCGGAGTTTCACCAACTTCAGAAATGGCACC
AGTATCATTCAGGGAGCGCTGACCCAGCTGATCCAGCTCTATCATCGCTTCCACCGGGTGCTGT
CCCAGCCGCAGCTCCGAGCCCTCCCTGCCCGGGCTGAGCTCATCAACATTCACCACCTTATGGT
GGAGCTCAAGAAGCATAAGCCCAACTTCTGATGTGCCAGAAACCGCCCTGAGATCTGCCGGTCA
TCTCCATGGACTTCTGCACCCCATTCCATACCCTTCTTCACCTGGGGTACCCCTTCCAGTTTTC
CCCTTGCTTCCCAGGCCCTTGACATGGCTTACCTGCCTTCACTCCCAGCACCTTGCCCAACAGG
ATAAGCTGGATCCCCTTGGCCTTCTGAATATCCCAGTGTCTTCAGGTTTCCCAAGACCACTTCC
CTGTGGGCTTCCAAAATGGCCTTTATCATTTCTCCAGTCTGTCACCCTCCTTTCCTGCTCCCAT
ACACCCAAGGCTTGTTTCTTCCCCTGTAAAAACCACTGCCTCAATCTCTGGTTCACTCAACTAG
TCACCATGTCCTGAGGCATGAAGCCTCCTCAGCTCTTGGAATTGCTGGCAAGGGGTGACTGCCT
CTGAGTCATTGTGTTTTTCAAAGTGATTTCTTTTCTGTAGCTTTTTGACCTAAGATCTCAGCAA
TTTGAACACTAACCTCTCCCCTCCTGGCTCAAGAATTACTCCGAAGTCAGTCTGCAGAAAATAA
ATATTTAGTATGACATGACACTTAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_022553 ⟹ NP_072047

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,250,278 - 33,271,876 (-)	NCBI
GRCh37	6	33,218,049 - 33,239,723 (-)	NCBI
Build 36	6	33,326,027 - 33,347,640 (-)	NCBI Archive
Celera	6	34,772,418 - 34,794,017 (-)	RGD
CHM1_1	6	33,220,041 - 33,241,675 (-)	NCBI
T2T-CHM13v2.0	6	33,071,640 - 33,093,238 (-)	NCBI

Sequence:

show sequence

AGTTTGTGTTTCAGACTTCCATATTTCCATTTGCAGTTGGGTGAAGTGGTTAGAGCTGAAAGGG
GACAGCTGGAGTCAAACAACTTAACTCAAATATCTGGGAACGATTTCGCGCTGAGGAAGACCCT
TTGGGACTTGTAGCTCCACTCCGGGGAACGGACTCGCCGGGACTGACAGTTGCCGGAAGTGAGG
CTGCGGGGAATGGCCGCCGCTGCGACCATGGCGGCTGCGGCCCGGGAACTGGTGTTGCGGGCTG
GGACCTCAGATATGGAGGAGGAAGAGGGCCCGCTGGCGGGTGGTCCTGGGCTCCAGGAACCACT
GCAACTTGGGGAGTTGGATATCACTTCTGATGAATTCATCCTGGATGAAGTGGATGTTCACATT
CAGGCAAATCTGGAGGATGAGTTAGTAAAGGAAGCTCTTAAAACGGGTGTAGATCTCCGTCACT
ATTCAAAGCAAGTTGAGCTGGAGCTACAGCAGATTGAACAGAAATCCATTCGGGATTATATTCA
AGAGAGTGAGAATATAGCATCTCTACACAACCAGATCACAGCCTGTGATGCTGTCCTGGAGCGA
ATGGAGCAGATGTTGGGAGCTTTTCAGAGTGACCTCAGCTCCATCAGCTCTGAGATCCGGACAC
TGCAGGAACAGTCAGGAGCCATGAACATTCGACTTCGAAATCGCCAGGCAGTTCGGGGGAAACT
TGGGGAGCTTGTTGATGGTCTGGTGGTGCCTTCTGCTCTGGTCACGGCAATTCTGGAGGCTCCA
GTGACAGAGCCCAGGTTCTTGGAGCAGCTACAGGAGCTGGATGCCAAGGCAGCCGCAGTCAGAG
AGCAGGAAGCTAGAGGCACAGCAGCCTGCGCAGATGTCAGAGGCGTGCTCGATCGGCTCCGGGT
CAAGGCAGTGACGAAGATCCGAGAGTTTATCCTCCAGAAGATTTATTCCTTCAGGAAACCCATG
ACCAACTATCAGATCCCCCAGACGGCCCTGCTGAAGTACAGGTTCTTCTATCAGTTTCTGCTGG
GCAATGAACGAGCAACAGCAAAGGAGATCAGGGATGAATATGTGGAGACGCTGAGCAAGATTTA
CCTGTCTTACTACCGCTCTTACCTGGGGCGGCTCATGAAGGTGCAGTATGAGGAAGTCGCTGAG
AAAGATGATCTAATGGGTGTGGAAGATACAGCAAAGAAAGGATTCTTCTCAAAGCCATCGCTCC
GCAGCAGGAACACCATTTTCACCCTAGGAACCCGCGGCTCTGTCATCTCCCCCACTGAACTTGA
GGCCCCCATCCTGGTGCCTCACACAGCGCAGCGCGGAGAGCAGAGGTATCCATTTGAGGCCCTC
TTCCGCAGCCAGCACTACGCCCTCCTAGACAATTCCTGCCGCGAATACCTTTTCATCTGTGAAT
TTTTTGTTGTGTCTGGCCCAGCTGCACACGACCTGTTCCATGCTGTCATGGGCCGTACACTCAG
CATGACCCTGAAACACCTGGATTCTTATCTAGCTGACTGCTACGATGCCATTGCTGTTTTTCTC
TGTATCCACATTGTTCTCCGGTTCCGTAACATTGCAGCAAAGAGGGATGTTCCTGCCCTGGACA
GGTACTGGGAACAGGTGCTTGCCTTGCTATGGCCACGGTTTGAACTGATCCTGGAGATGAATGT
TCAGAGCGTCCGAAGCACTGACCCCCAGCGCCTAGGGGGGTTGGATACTCGGCCCCACTATATC
ACACGCCGCTATGCAGAGTTCTCCTCCGCTCTTGTCAGTATCAACCAGACAATTCCTAATGAAC
GGACCATGCAATTGCTGGGACAGCTGCAGGTGGAGGTGGAGAATTTTGTCCTCCGAGTGGCAGC
TGAGTTCTCCTCAAGGAAGGAGCAGCTTGTGTTTCTGATCAACAACTATGACATGATGCTGGGT
GTGCTGATGGAGCGGGCTGCAGATGACAGCAAAGAGGTTGAGAGCTTCCAGCAGCTGCTCAATG
CTCGGACACAGGAATTCATTGAAGAGTTGCTGTCTCCCCCTTTTGGGGGTTTAGTGGCATTTGT
GAAGGAGGCTGAGGCTTTGATTGAGCGTGGACAGGCTGAGCGACTTCGAGGGGAAGAAGCCCGG
GTAACTCAGCTGATCCGTGGCTTTGGTAGTTCCTGGAAATCATCAGTGGAATCTCTGAGTCAGG
ATGTAATGCGGAGTTTCACCAACTTCAGAAATGGCACCAGTATCATTCAGGGAGCGCTGACCCA
GCTGATCCAGCTCTATCATCGCTTCCACCGGGTGCTGTCCCAGCCGCAGCTCCGAGCCCTCCCT
GCCCGGGCTGAGCTCATCAACATTCACCACCTTATGGTGGAGCTCAAGAAGCATAAGCCCAACT
TCTGATGTGCCAGAAACCGCCCTGAGATCTGCCGGTCATCTCCATGGACTTCTGCACCCCATTC
CATACCCTTCTTCACCTGGGGTACCCCTTCCAGTTTTCCCCTTGCTTCCCAGGCCCTTGACATG
GCTTACCTGCCTTCACTCCCAGCACCTTGCCCAACAGGATAAGCTGGATCCCCTTGGCCTTCTG
AATATCCCAGTGTCTTCAGGTTTCCCAAGACCACTTCCCTGTGGGCTTCCAAAATGGCCTTTAT
CATTTCTCCAGTCTGTCACCCTCCTTTCCTGCTCCCATACACCCAAGGCTTGTTTCTTCCCCTG
TAAAAACCACTGCCTCAATCTCTGGTTCACTCAACTAGTCACCATGTCCTGAGGCATGAAGCCT
CCTCAGCTCTTGGAATTGCTGGCAAGGGGTGACTGCCTCTGAGTCATTGTGTTTTTCAAAGTGA
TTTCTTTTCTGTAGCTTTTTGACCTAAGATCTCAGCAATTTGAACACTAACCTCTCCCCTCCTG
GCTCAAGAATTACTCCGAAGTCAGTCTGCAGAAAATAAATATTTAGTATGACATGA

hide sequence

RefSeq Acc Id:

XM_011514797 ⟹ XP_011513099

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,250,272 - 33,271,876 (-)	NCBI

Sequence:

show sequence

AACAGCGAAGGTTCCGGGGCTAGTTTGTGTTTCAGACTTCCATATTTCCATTTGCAGTTGGGTG
AAGTGGTTAGAGCTGAAAGGGGACAGCTGGAGTCAAACAACTTAACTCAAATATCTGGGAACGA
TTTCGCGCTGAGGAAGACCCTTTGGGACTTGTAGCTCCACTCCGGGGAACGGACTCGCCGGGAC
TGACAGTTGCCGGAAGTGAGGCTGCGGGGAATGGCCGCCGCTGCGACCATGGCGGCTGCGGCCC
GGGAACTGGTGTTGCGGGCTGGGACCTCAGATATGGAGGAGGAAGAGGGCCCGCTGGCGGGTGG
TCCTGGGCTCCAGGAACCACTGCAACTTGGGGAGTTGGATATCACTTCTGATGAATTCATCCTG
GATGAAGTGGATGGGTGTAGATCTCCGTCACTATTCAAAGCAAGTTGAGCTGGAGCTACAGCAG
ATTGAACAGAAATCCATTCGGGATTATATTCAAGAGAGTGAGAATATAGCATCTCTACACAACC
AGATCACAGCCTGTGATGCTGTCCTGGAGCGAATGGAGCAGATGTTGGGAGCTTTTCAGAGTGA
CCTCAGCTCCATCAGCTCTGAGATCCGGACACTGCAGGAACAGTCAGGAGCCATGAACATTCGA
CTTCGAAATCGCCAGGCAGTTCGGGGGAAACTTGGGGAGCTTGTTGATGGTCTGGTGGTGCCTT
CTGCTCTGGTCACGGCAATTCTGGAGGCTCCAGTGACAGAGCCCAGGTTCTTGGAGCAGCTACA
GGAGCTGGATGCCAAGGCAGCCGCAGTCAGAGAGCAGGAAGCTAGAGGCACAGCAGCCTGCGCA
GATGTCAGAGGCGTGCTCGATCGGCTCCGGGTCAAGGCAGTGACGAAGATCCGAGAGTTTATCC
TCCAGAAGATTTATTCCTTCAGGAAACCCATGACCAACTATCAGATCCCCCAGACGGCCCTGCT
GAAGTACAGGTTCTTCTATCAGTTTCTGCTGGGCAATGAACGAGCAACAGCAAAGGAGATCAGG
GATGAATATGTGGAGACGCTGAGCAAGATTTACCTGTCTTACTACCGCTCTTACCTGGGGCGGC
TCATGAAGGTGCAGTATGAGGAAGTCGCTGAGAAAGATGATCTAATGGGTGTGGAAGATACAGC
AAAGAAAGGATTCTTCTCAAAGCCATCGCTCCGCAGCAGGAACACCATTTTCACCCTAGGAACC
CGCGGCTCTGTCATCTCCCCCACTGAACTTGAGGCCCCCATCCTGGTGCCTCACACAGCGCAGC
GCGGAGAGCAGAGGTATCCATTTGAGGCCCTCTTCCGCAGCCAGCACTACGCCCTCCTAGACAA
TTCCTGCCGCGAATACCTTTTCATCTGTGAATTTTTTGTTGTGTCTGGCCCAGCTGCACACGAC
CTGTTCCATGCTGTCATGGGCCGTACACTCAGCATGACCCTGAAACACCTGGATTCTTATCTAG
CTGACTGCTACGATGCCATTGCTGTTTTTCTCTGTATCCACATTGTTCTCCGGTTCCGTAACAT
TGCAGCAAAGAGGGATGTTCCTGCCCTGGACAGGTACTGGGAACAGGTGCTTGCCTTGCTATGG
CCACGGTTTGAACTGATCCTGGAGATGAATGTTCAGAGCGTCCGAAGCACTGACCCCCAGCGCC
TAGGGGGGTTGGATACTCGGCCCCACTATATCACACGCCGCTATGCAGAGTTCTCCTCCGCTCT
TGTCAGTATCAACCAGACAATTCCTAATGAACGGACCATGCAATTGCTGGGACAGCTGCAGGTG
GAGGTGGAGAATTTTGTCCTCCGAGTGGCAGCTGAGTTCTCCTCAAGGAAGGAGCAGCTTGTGT
TTCTGATCAACAACTATGACATGATGCTGGGTGTGCTGATGGAGCGGGCTGCAGATGACAGCAA
AGAGGTTGAGAGCTTCCAGCAGCTGCTCAATGCTCGGACACAGGAATTCATTGAAGAGTTGCTG
TCTCCCCCTTTTGGGGGTTTAGTGGCATTTGTGAAGGAGGCTGAGGCTTTGATTGAGCGTGGAC
AGGCTGAGCGACTTCGAGGGGAAGAAGCCCGGGTAACTCAGCTGATCCGTGGCTTTGGTAGTTC
CTGGAAATCATCAGTGGAATCTCTGAGTCAGGATGTAATGCGGAGTTTCACCAACTTCAGAAAT
GGCACCAGTATCATTCAGGGAGCGCTGACCCAGCTGATCCAGCTCTATCATCGCTTCCACCGGG
TGCTGTCCCAGCCGCAGCTCCGAGCCCTCCCTGCCCGGGCTGAGCTCATCAACATTCACCACCT
TATGGTGGAGCTCAAGAAGCATAAGCCCAACTTCTGATGTGCCAGAAACCGCCCTGAGATCTGC
CGGTCATCTCCATGGACTTCTGCACCCCATTCCATACCCTTCTTCACCTGGGGTACCCCTTCCA
GTTTTCCCCTTGCTTCCCAGGCCCTTGACATGGCTTACCTGCCTTCACTCCCAGCACCTTGCCC
AACAGGATAAGCTGGATCCCCTTGGCCTTCTGAATATCCCAGTGTCTTCAGGTTTCCCAAGACC
ACTTCCCTGTGGGCTTCCAAAATGGCCTTTATCATTTCTCCAGTCTGTCACCCTCCTTTCCTGC
TCCCATACACCCAAGGCTTGTTTCTTCCCCTGTAAAAACCACTGCCTCAATCTCTGGTTCACTC
AACTAGTCACCATGTCCTGAGGCATGAAGCCTCCTCAGCTCTTGGAATTGCTGGCAAGGGGTGA
CTGCCTCTGAGTCATTGTGTTTTTCAAAGTGATTTCTTTTCTGTAGCTTTTTGACCTAAGATCT
CAGCAATTTGAACACTAACCTCTCCCCTCCTGGCTCAAGAATTACTCCGAAGTCAGTCTGCAGA
AAATAAATATTTAGTATGACATGACA

hide sequence

RefSeq Acc Id:

XM_011514798 ⟹ XP_011513100

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,250,272 - 33,271,876 (-)	NCBI

Sequence:

show sequence

CGAAGGTTCCGGGGCTAGTTTGTGTTTCAGACTTCCATATTTCCATTTGCAGTTGGGTGAAGTG
GTTAGAGCTGAAAGGGGACAGCTGGAGTCAAACAACTTAACTCAAATATCTGGGAACGATTTCG
CGCTGAGGAAGACCCTTTGGGACTTGTAGCTCCACTCCGGGGAACGGACTCGCCGGGACTGACA
GTTGCCGGAAGCGGGTGGTCCTGGGCTCCAGGAACCACTGCAACTTGGGGAGTTGGATATCACT
TCTGATGAATTCATCCTGGATGAAGTGGATGGGTGTAGATCTCCGTCACTATTCAAAGCAAGTT
GAGCTGGAGCTACAGCAGATTGAACAGAAATCCATTCGGGATTATATTCAAGAGAGTGAGAATA
TAGCATCTCTACACAACCAGATCACAGCCTGTGATGCTGTCCTGGAGCGAATGGAGCAGATGTT
GGGAGCTTTTCAGAGTGACCTCAGCTCCATCAGCTCTGAGATCCGGACACTGCAGGAACAGTCA
GGAGCCATGAACATTCGACTTCGAAATCGCCAGGCAGTTCGGGGGAAACTTGGGGAGCTTGTTG
ATGGTCTGGTGGTGCCTTCTGCTCTGGTCACGGCAATTCTGGAGGCTCCAGTGACAGAGCCCAG
GTTCTTGGAGCAGCTACAGGAGCTGGATGCCAAGGCAGCCGCAGTCAGAGAGCAGGAAGCTAGA
GGCACAGCAGCCTGCGCAGATGTCAGAGGCGTGCTCGATCGGCTCCGGGTCAAGGCAGTGACGA
AGATCCGAGAGTTTATCCTCCAGAAGATTTATTCCTTCAGGAAACCCATGACCAACTATCAGAT
CCCCCAGACGGCCCTGCTGAAGTACAGGTTCTTCTATCAGTTTCTGCTGGGCAATGAACGAGCA
ACAGCAAAGGAGATCAGGGATGAATATGTGGAGACGCTGAGCAAGATTTACCTGTCTTACTACC
GCTCTTACCTGGGGCGGCTCATGAAGGTGCAGTATGAGGAAGTCGCTGAGAAAGATGATCTAAT
GGGTGTGGAAGATACAGCAAAGAAAGGATTCTTCTCAAAGCCATCGCTCCGCAGCAGGAACACC
ATTTTCACCCTAGGAACCCGCGGCTCTGTCATCTCCCCCACTGAACTTGAGGCCCCCATCCTGG
TGCCTCACACAGCGCAGCGCGGAGAGCAGAGGTATCCATTTGAGGCCCTCTTCCGCAGCCAGCA
CTACGCCCTCCTAGACAATTCCTGCCGCGAATACCTTTTCATCTGTGAATTTTTTGTTGTGTCT
GGCCCAGCTGCACACGACCTGTTCCATGCTGTCATGGGCCGTACACTCAGCATGACCCTGAAAC
ACCTGGATTCTTATCTAGCTGACTGCTACGATGCCATTGCTGTTTTTCTCTGTATCCACATTGT
TCTCCGGTTCCGTAACATTGCAGCAAAGAGGGATGTTCCTGCCCTGGACAGGTACTGGGAACAG
GTGCTTGCCTTGCTATGGCCACGGTTTGAACTGATCCTGGAGATGAATGTTCAGAGCGTCCGAA
GCACTGACCCCCAGCGCCTAGGGGGGTTGGATACTCGGCCCCACTATATCACACGCCGCTATGC
AGAGTTCTCCTCCGCTCTTGTCAGTATCAACCAGACAATTCCTAATGAACGGACCATGCAATTG
CTGGGACAGCTGCAGGTGGAGGTGGAGAATTTTGTCCTCCGAGTGGCAGCTGAGTTCTCCTCAA
GGAAGGAGCAGCTTGTGTTTCTGATCAACAACTATGACATGATGCTGGGTGTGCTGATGGAGCG
GGCTGCAGATGACAGCAAAGAGGTTGAGAGCTTCCAGCAGCTGCTCAATGCTCGGACACAGGAA
TTCATTGAAGAGTTGCTGTCTCCCCCTTTTGGGGGTTTAGTGGCATTTGTGAAGGAGGCTGAGG
CTTTGATTGAGCGTGGACAGGCTGAGCGACTTCGAGGGGAAGAAGCCCGGGTAACTCAGCTGAT
CCGTGGCTTTGGTAGTTCCTGGAAATCATCAGTGGAATCTCTGAGTCAGGATGTAATGCGGAGT
TTCACCAACTTCAGAAATGGCACCAGTATCATTCAGGGAGCGCTGACCCAGCTGATCCAGCTCT
ATCATCGCTTCCACCGGGTGCTGTCCCAGCCGCAGCTCCGAGCCCTCCCTGCCCGGGCTGAGCT
CATCAACATTCACCACCTTATGGTGGAGCTCAAGAAGCATAAGCCCAACTTCTGATGTGCCAGA
AACCGCCCTGAGATCTGCCGGTCATCTCCATGGACTTCTGCACCCCATTCCATACCCTTCTTCA
CCTGGGGTACCCCTTCCAGTTTTCCCCTTGCTTCCCAGGCCCTTGACATGGCTTACCTGCCTTC
ACTCCCAGCACCTTGCCCAACAGGATAAGCTGGATCCCCTTGGCCTTCTGAATATCCCAGTGTC
TTCAGGTTTCCCAAGACCACTTCCCTGTGGGCTTCCAAAATGGCCTTTATCATTTCTCCAGTCT
GTCACCCTCCTTTCCTGCTCCCATACACCCAAGGCTTGTTTCTTCCCCTGTAAAAACCACTGCC
TCAATCTCTGGTTCACTCAACTAGTCACCATGTCCTGAGGCATGAAGCCTCCTCAGCTCTTGGA
ATTGCTGGCAAGGGGTGACTGCCTCTGAGTCATTGTGTTTTTCAAAGTGATTTCTTTTCTGTAG
CTTTTTGACCTAAGATCTCAGCAATTTGAACACTAACCTCTCCCCTCCTGGCTCAAGAATTACT
CCGAAGTCAGTCTGCAGAAAATAAATATTTAGTATGACATGACA

hide sequence

RefSeq Acc Id:

XM_011514799 ⟹ XP_011513101

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,250,272 - 33,271,965 (-)	NCBI

Sequence:

show sequence

AGTTCGTAAGGTTCATAGGCGGGTGGTCCTGGGCTCCAGGAACCACTGCAACTTGGGGAGTTGG
ATATCACTTCTGATGAATTCATCCTGGATGAAGTGGATGGGTGTAGATCTCCGTCACTATTCAA
AGCAAGTTGAGCTGGAGCTACAGCAGATTGAACAGAAATCCATTCGGGATTATATTCAAGAGAG
TGAGAATATAGCATCTCTACACAACCAGATCACAGCCTGTGATGCTGTCCTGGAGCGAATGGAG
CAGATGTTGGGAGCTTTTCAGAGTGACCTCAGCTCCATCAGCTCTGAGATCCGGACACTGCAGG
AACAGTCAGGAGCCATGAACATTCGACTTCGAAATCGCCAGGCAGTTCGGGGGAAACTTGGGGA
GCTTGTTGATGGTCTGGTGGTGCCTTCTGCTCTGGTCACGGCAATTCTGGAGGCTCCAGTGACA
GAGCCCAGGTTCTTGGAGCAGCTACAGGAGCTGGATGCCAAGGCAGCCGCAGTCAGAGAGCAGG
AAGCTAGAGGCACAGCAGCCTGCGCAGATGTCAGAGGCGTGCTCGATCGGCTCCGGGTCAAGGC
AGTGACGAAGATCCGAGAGTTTATCCTCCAGAAGATTTATTCCTTCAGGAAACCCATGACCAAC
TATCAGATCCCCCAGACGGCCCTGCTGAAGTACAGGTTCTTCTATCAGTTTCTGCTGGGCAATG
AACGAGCAACAGCAAAGGAGATCAGGGATGAATATGTGGAGACGCTGAGCAAGATTTACCTGTC
TTACTACCGCTCTTACCTGGGGCGGCTCATGAAGGTGCAGTATGAGGAAGTCGCTGAGAAAGAT
GATCTAATGGGTGTGGAAGATACAGCAAAGAAAGGATTCTTCTCAAAGCCATCGCTCCGCAGCA
GGAACACCATTTTCACCCTAGGAACCCGCGGCTCTGTCATCTCCCCCACTGAACTTGAGGCCCC
CATCCTGGTGCCTCACACAGCGCAGCGCGGAGAGCAGAGGTATCCATTTGAGGCCCTCTTCCGC
AGCCAGCACTACGCCCTCCTAGACAATTCCTGCCGCGAATACCTTTTCATCTGTGAATTTTTTG
TTGTGTCTGGCCCAGCTGCACACGACCTGTTCCATGCTGTCATGGGCCGTACACTCAGCATGAC
CCTGAAACACCTGGATTCTTATCTAGCTGACTGCTACGATGCCATTGCTGTTTTTCTCTGTATC
CACATTGTTCTCCGGTTCCGTAACATTGCAGCAAAGAGGGATGTTCCTGCCCTGGACAGGTACT
GGGAACAGGTGCTTGCCTTGCTATGGCCACGGTTTGAACTGATCCTGGAGATGAATGTTCAGAG
CGTCCGAAGCACTGACCCCCAGCGCCTAGGGGGGTTGGATACTCGGCCCCACTATATCACACGC
CGCTATGCAGAGTTCTCCTCCGCTCTTGTCAGTATCAACCAGACAATTCCTAATGAACGGACCA
TGCAATTGCTGGGACAGCTGCAGGTGGAGGTGGAGAATTTTGTCCTCCGAGTGGCAGCTGAGTT
CTCCTCAAGGAAGGAGCAGCTTGTGTTTCTGATCAACAACTATGACATGATGCTGGGTGTGCTG
ATGGAGCGGGCTGCAGATGACAGCAAAGAGGTTGAGAGCTTCCAGCAGCTGCTCAATGCTCGGA
CACAGGAATTCATTGAAGAGTTGCTGTCTCCCCCTTTTGGGGGTTTAGTGGCATTTGTGAAGGA
GGCTGAGGCTTTGATTGAGCGTGGACAGGCTGAGCGACTTCGAGGGGAAGAAGCCCGGGTAACT
CAGCTGATCCGTGGCTTTGGTAGTTCCTGGAAATCATCAGTGGAATCTCTGAGTCAGGATGTAA
TGCGGAGTTTCACCAACTTCAGAAATGGCACCAGTATCATTCAGGGAGCGCTGACCCAGCTGAT
CCAGCTCTATCATCGCTTCCACCGGGTGCTGTCCCAGCCGCAGCTCCGAGCCCTCCCTGCCCGG
GCTGAGCTCATCAACATTCACCACCTTATGGTGGAGCTCAAGAAGCATAAGCCCAACTTCTGAT
GTGCCAGAAACCGCCCTGAGATCTGCCGGTCATCTCCATGGACTTCTGCACCCCATTCCATACC
CTTCTTCACCTGGGGTACCCCTTCCAGTTTTCCCCTTGCTTCCCAGGCCCTTGACATGGCTTAC
CTGCCTTCACTCCCAGCACCTTGCCCAACAGGATAAGCTGGATCCCCTTGGCCTTCTGAATATC
CCAGTGTCTTCAGGTTTCCCAAGACCACTTCCCTGTGGGCTTCCAAAATGGCCTTTATCATTTC
TCCAGTCTGTCACCCTCCTTTCCTGCTCCCATACACCCAAGGCTTGTTTCTTCCCCTGTAAAAA
CCACTGCCTCAATCTCTGGTTCACTCAACTAGTCACCATGTCCTGAGGCATGAAGCCTCCTCAG
CTCTTGGAATTGCTGGCAAGGGGTGACTGCCTCTGAGTCATTGTGTTTTTCAAAGTGATTTCTT
TTCTGTAGCTTTTTGACCTAAGATCTCAGCAATTTGAACACTAACCTCTCCCCTCCTGGCTCAA
GAATTACTCCGAAGTCAGTCTGCAGAAAATAAATATTTAGTATGACATGACA

hide sequence

RefSeq Acc Id:

XM_017011179 ⟹ XP_016866668

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,266,732 - 33,271,876 (-)	NCBI

Sequence:

show sequence

AACAGCGAAGGTTCCGGGGCTAGTTTGTGTTTCAGACTTCCATATTTCCATTTGCAGTTGGGTG
AAGTGGTTAGAGCTGAAAGGGGACAGCTGGAGTCAAACAACTTAACTCAAATATCTGGGAACGA
TTTCGCGCTGAGGAAGACCCTTTGGGACTTGTAGCTCCACTCCGGGGAACGGACTCGCCGGGAC
TGACAGTTGCCGGAAGTGAGGCTGCGGGGAATGGCCGCCGCTGCGACCATGGCGGCTGCGGCCC
GGGAACTGGTGTTGCGGGCTGGGACCTCAGATATGGAGGAGGAAGAGGGCCCGCTGGCGGGTGG
TCCTGGGCTCCAGGAACCACTGCAACTTGGGGAGTTGGATATCACTTCTGATGAATTCATCCTG
GATGAAGTGGATGTTCACATTCAGGCAAATCTGGAGGATGAGTTAGTAAAGGAAGCTCTTAAAA
CGGGTGTAGATCTCCGTCACTATTCAAAGCAAGTTGAGCTGGAGCTACAGCAGATTGAACAGAA
ATCCATTCGGGATTATATTCAAGAGAGTGAGAATATAGCATCTCTACACAACCAGATCACAGCC
TGTGATGCTGTCCTGGAGCGAATGGAGCAGATGTTGGGAGCTTTTCAGAGTGACCTCAGCTCCA
TCAGCTCTGAGATCCGGACACTGCAGGAACAGTCAGGAGCCATGAACATTCGACTTCGAAATCG
CCAGGCAGTTCGGGGGAAACTTGGGGAGCTTGTTGATGGTCTGGTGGTGCCTTCTGCTCTGGTC
ACGGCAATTCTGGAGGCTCCAGTGACAGAGCCCAGGTTCTTGGAGCAGCTACAGGAGCTGGATG
CCAAGGCAGCCGCAGTCAGAGAGCAGGAAGCTAGAGGCACAGCAGCCTGCGCAGATGTCAGAGG
CGTGCTCGATCGGCTCCGGGTCAAGGCAGTGACGAAGATCCGAGAGTTTATCCTCCAGAAGATT
TATTCCTTCAGGAAACCCATGACCAACTATCAGATCCCCCAGACGGCCCTGCTGAAGTACAGGT
TCTTCTATCAGTTTCTGCTGGGCAATGAACGAGCAACAGCAAAGGAGATCAGGGATGAATATGT
GGAGACGCTGAGCAAGATTTACCTGTCTTACTACCGCTCTTACCTGGGGCGGCTCATGAAGGTG
CAGTATGAGGAAGTCGCTGAGAAAGATGATCTAATGGGTGTGGAAGATACAGCAAAGAAAGGAT
TCTTCTCAAAGCCATCGCTCCGCAGCAGGAACACCATTTTCACCCTAGGAACCCGCGGCTCTGT
CATCTCCCCCACTGAACTTGAGGCCCCCATCCTGGTGCCTCACACAGCGCAGCGCGGAGAGCAG
AGGACTTGGGAGTGGCCTTCTCCAATCACTCCAGCCTGCTGTGATGTGAAAAGAGCTGGGAACC
ATTGACTTAAGGGCATGCAGAGGGGAGAGACTGGATGAGGGGAATGACAGTCAGAGGCAGGTGT
TGAGGTGGATGCAGGAGTAGCAACAGCAGGTGGGTGTAGGCCCTTTTTGTACCCCTATGTTCCC
CCACCTTTTCAGTGCCCATTCAGCTTGCTCTTAGACAGCCCGGACCTAGATAGATGCGAAGGGT
CTGCCTAGCTCTTATTACTCAGGTTTACTGATTTTCCAGCCATATCCATGGGAAGTCAGTGTTG
GGGTCCATCCCTTCTGTTTTTCTTCT

hide sequence

RefSeq Acc Id:

XM_054356195 ⟹ XP_054212170

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	33,071,634 - 33,093,238 (-)	NCBI

RefSeq Acc Id:

XM_054356196 ⟹ XP_054212171

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	33,071,634 - 33,093,327 (-)	NCBI

RefSeq Acc Id:

XM_054356197 ⟹ XP_054212172

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	33,071,634 - 33,093,238 (-)	NCBI

RefSeq Acc Id:

XM_054356198 ⟹ XP_054212173

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	6	33,088,096 - 33,093,238 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001276103	(Get FASTA)	NCBI Sequence Viewer
	NP_001276104	(Get FASTA)	NCBI Sequence Viewer
	NP_001276105	(Get FASTA)	NCBI Sequence Viewer
	NP_072047	(Get FASTA)	NCBI Sequence Viewer
	XP_011513099	(Get FASTA)	NCBI Sequence Viewer
	XP_011513100	(Get FASTA)	NCBI Sequence Viewer
	XP_011513101	(Get FASTA)	NCBI Sequence Viewer
	XP_016866668	(Get FASTA)	NCBI Sequence Viewer
	XP_054185824	(Get FASTA)	NCBI Sequence Viewer
	XP_054185825	(Get FASTA)	NCBI Sequence Viewer
	XP_054185826	(Get FASTA)	NCBI Sequence Viewer
	XP_054185827	(Get FASTA)	NCBI Sequence Viewer
	XP_054186307	(Get FASTA)	NCBI Sequence Viewer
	XP_054186308	(Get FASTA)	NCBI Sequence Viewer
	XP_054186309	(Get FASTA)	NCBI Sequence Viewer
	XP_054186310	(Get FASTA)	NCBI Sequence Viewer
	XP_054186823	(Get FASTA)	NCBI Sequence Viewer
	XP_054186824	(Get FASTA)	NCBI Sequence Viewer
	XP_054186825	(Get FASTA)	NCBI Sequence Viewer
	XP_054186826	(Get FASTA)	NCBI Sequence Viewer
	XP_054187085	(Get FASTA)	NCBI Sequence Viewer
	XP_054187086	(Get FASTA)	NCBI Sequence Viewer
	XP_054187087	(Get FASTA)	NCBI Sequence Viewer
	XP_054187088	(Get FASTA)	NCBI Sequence Viewer
	XP_054187346	(Get FASTA)	NCBI Sequence Viewer
	XP_054187347	(Get FASTA)	NCBI Sequence Viewer
	XP_054187348	(Get FASTA)	NCBI Sequence Viewer
	XP_054187349	(Get FASTA)	NCBI Sequence Viewer
	XP_054212170	(Get FASTA)	NCBI Sequence Viewer
	XP_054212171	(Get FASTA)	NCBI Sequence Viewer
	XP_054212172	(Get FASTA)	NCBI Sequence Viewer
	XP_054212173	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH32108	(Get FASTA)	NCBI Sequence Viewer
	AAH40114	(Get FASTA)	NCBI Sequence Viewer
	AQY77200	(Get FASTA)	NCBI Sequence Viewer
	AQY77201	(Get FASTA)	NCBI Sequence Viewer
	AQY77202	(Get FASTA)	NCBI Sequence Viewer
	BAD96587	(Get FASTA)	NCBI Sequence Viewer
	BAG50969	(Get FASTA)	NCBI Sequence Viewer
	BAG60251	(Get FASTA)	NCBI Sequence Viewer
	BAG61506	(Get FASTA)	NCBI Sequence Viewer
	BAG62061	(Get FASTA)	NCBI Sequence Viewer
	BAG62156	(Get FASTA)	NCBI Sequence Viewer
	BAG64987	(Get FASTA)	NCBI Sequence Viewer
	CAA06821	(Get FASTA)	NCBI Sequence Viewer
	CAA11260	(Get FASTA)	NCBI Sequence Viewer
	CAB99099	(Get FASTA)	NCBI Sequence Viewer
	CAE11568	(Get FASTA)	NCBI Sequence Viewer
	CAI95618	(Get FASTA)	NCBI Sequence Viewer
	CAI95619	(Get FASTA)	NCBI Sequence Viewer
	EAX03686	(Get FASTA)	NCBI Sequence Viewer
	EAX03687	(Get FASTA)	NCBI Sequence Viewer
	EAX03688	(Get FASTA)	NCBI Sequence Viewer
	EAX03689	(Get FASTA)	NCBI Sequence Viewer
	EAX03690	(Get FASTA)	NCBI Sequence Viewer
	EAX03691	(Get FASTA)	NCBI Sequence Viewer
	EAX03692	(Get FASTA)	NCBI Sequence Viewer
	EAX03693	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000372697.4
	ENSP00000390831.2
	ENSP00000391197.2
	ENSP00000398367.1
	ENSP00000404016.2
	ENSP00000406988.2
	ENSP00000409952
	ENSP00000409952.2
	ENSP00000434319.1
	ENSP00000434469.1
	ENSP00000434720.1
	ENSP00000435031.1
	ENSP00000435407.1
	ENSP00000436612.1
GenBank Protein	Q8N1B4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_072047 ⟸ NM_022553
- Peptide Label:	isoform 1
- UniProtKB:	Q8IUN6 (UniProtKB/Swiss-Prot), Q5SQW1 (UniProtKB/Swiss-Prot), Q5JPA0 (UniProtKB/Swiss-Prot), Q53GR4 (UniProtKB/Swiss-Prot), B4DNI9 (UniProtKB/Swiss-Prot), B0UZZ4 (UniProtKB/Swiss-Prot), A2BF38 (UniProtKB/Swiss-Prot), Q9NPT5 (UniProtKB/Swiss-Prot), Q8N1B4 (UniProtKB/Swiss-Prot), Q4VXZ2 (UniProtKB/TrEMBL), B4DS44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAAATMAAAARELVLRAGTSDMEEEEGPLAGGPGLQEPLQLGELDITSDEFILDEVDVHIQAN LEDELVKEALKTGVDLRHYSKQVELELQQIEQKSIRDYIQESENIASLHNQITACDAVLERMEQ MLGAFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAPVTE PRFLEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPMTNY QIPQTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYEEVAEKDD LMGVEDTAKKGFFSKPSLRSRNTIFTLGTRGSVISPTELEAPILVPHTAQRGEQRYPFEALFRS QHYALLDNSCREYLFICEFFVVSGPAAHDLFHAVMGRTLSMTLKHLDSYLADCYDAIAVFLCIH IVLRFRNIAAKRDVPALDRYWEQVLALLWPRFELILEMNVQSVRSTDPQRLGGLDTRPHYITRR YAEFSSALVSINQTIPNERTMQLLGQLQVEVENFVLRVAAEFSSRKEQLVFLINNYDMMLGVLM ERAADDSKEVESFQQLLNARTQEFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEARVTQ LIRGFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALPARA ELINIHHLMVELKKHKPNF hide sequence

RefSeq Acc Id:	NP_001276105 ⟸ NM_001289176
- Peptide Label:	isoform 4
- UniProtKB:	B3KMF7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEQMLGAFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAP VTEPRFLEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPM TNYQIPQTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYPFEAL FRSQHYALLDNSCREYLFICEFFVVSGPAAHDLFHAVMGRTLSMTLKHLDSYLADCYDAIAVFL CIHIVLRFRNIAAKRDVPALDRYWEQVLALLWPRFELILEMNVQSVRSTDPQRLGGLDTRPHYI TRRYAEFSSALVSINQTIPNERTMQLLGQLQVEVENFVLRVAAEFSSRKEQLVFLINNYDMMLG VLMERAADDSKEVESFQQLLNARTQEFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEAR VTQLIRGFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALP ARAELINIHHLMVELKKHKPNF hide sequence

RefSeq Acc Id:	NP_001276104 ⟸ NM_001289175
- Peptide Label:	isoform 3
- UniProtKB:	A0A1U9X8S4 (UniProtKB/TrEMBL), B3KMF7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEQMLGAFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAP VTEPRFLEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPM TNYQIPQTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYEEVAE KDDLMGVEDTAKKGFFSKPSLRSRNTIFTLGTRGSVISPTELEAPILVPHTAQRGEQRYPFEAL FRSQHYALLDNSCREYLFICEFFVVSGPAAHDLFHAVMGRTLSMTLKHLDSYLADCYDAIAVFL CIHIVLRFRNIAAKRDVPALDRYWEQVLALLWPRFELILEMNVQSVRSTDPQRLGGLDTRPHYI TRRYAEFSSALVSINQTIPNERTMQLLGQLQVEVENFVLRVAAEFSSRKEQLVFLINNYDMMLG VLMERAADDSKEVESFQQLLNARTQEFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEAR VTQLIRGFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALP ARAELINIHHLMVELKKHKPNF hide sequence

RefSeq Acc Id:	NP_001276103 ⟸ NM_001289174
- Peptide Label:	isoform 2
- UniProtKB:	B4DS44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNSSWMKWMGVDLRHYSKQVELELQQIEQKSIRDYIQESENIASLHNQITACDAVLERMEQMLG AFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAPVTEPRF LEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPMTNYQIP QTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYEEVAEKDDLMG VEDTAKKGFFSKPSLRSRNTIFTLGTRGSVISPTELEAPILVPHTAQRGEQRYPFEALFRSQHY ALLDNSCREYLFICEFFVVSGPAAHDLFHAVMGRTLSMTLKHLDSYLADCYDAIAVFLCIHIVL RFRNIAAKRDVPALDRYWEQVLALLWPRFELILEMNVQSVRSTDPQRLGGLDTRPHYITRRYAE FSSALVSINQTIPNERTMQLLGQLQVEVENFVLRVAAEFSSRKEQLVFLINNYDMMLGVLMERA ADDSKEVESFQQLLNARTQEFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEARVTQLIR GFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALPARAELI NIHHLMVELKKHKPNF hide sequence

RefSeq Acc Id:	XP_011513101 ⟸ XM_011514799
- Peptide Label:	isoform X2
- UniProtKB:	B4DS44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNSSWMKWMGVDLRHYSKQVELELQQIEQKSIRDYIQESENIASLHNQITACDAVLERMEQMLG AFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAPVTEPRF LEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPMTNYQIP QTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYEEVAEKDDLMG VEDTAKKGFFSKPSLRSRNTIFTLGTRGSVISPTELEAPILVPHTAQRGEQRYPFEALFRSQHY ALLDNSCREYLFICEFFVVSGPAAHDLFHAVMGRTLSMTLKHLDSYLADCYDAIAVFLCIHIVL RFRNIAAKRDVPALDRYWEQVLALLWPRFELILEMNVQSVRSTDPQRLGGLDTRPHYITRRYAE FSSALVSINQTIPNERTMQLLGQLQVEVENFVLRVAAEFSSRKEQLVFLINNYDMMLGVLMERA ADDSKEVESFQQLLNARTQEFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEARVTQLIR GFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALPARAELI NIHHLMVELKKHKPNF hide sequence

RefSeq Acc Id:	XP_011513099 ⟸ XM_011514797
- Peptide Label:	isoform X2
- UniProtKB:	B4DS44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNSSWMKWMGVDLRHYSKQVELELQQIEQKSIRDYIQESENIASLHNQITACDAVLERMEQMLG AFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAPVTEPRF LEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPMTNYQIP QTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYEEVAEKDDLMG VEDTAKKGFFSKPSLRSRNTIFTLGTRGSVISPTELEAPILVPHTAQRGEQRYPFEALFRSQHY ALLDNSCREYLFICEFFVVSGPAAHDLFHAVMGRTLSMTLKHLDSYLADCYDAIAVFLCIHIVL RFRNIAAKRDVPALDRYWEQVLALLWPRFELILEMNVQSVRSTDPQRLGGLDTRPHYITRRYAE FSSALVSINQTIPNERTMQLLGQLQVEVENFVLRVAAEFSSRKEQLVFLINNYDMMLGVLMERA ADDSKEVESFQQLLNARTQEFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEARVTQLIR GFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALPARAELI NIHHLMVELKKHKPNF hide sequence

RefSeq Acc Id:	XP_011513100 ⟸ XM_011514798
- Peptide Label:	isoform X2
- UniProtKB:	B4DS44 (UniProtKB/TrEMBL)
- Sequence:	show sequence MNSSWMKWMGVDLRHYSKQVELELQQIEQKSIRDYIQESENIASLHNQITACDAVLERMEQMLG AFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAPVTEPRF LEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPMTNYQIP QTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYEEVAEKDDLMG VEDTAKKGFFSKPSLRSRNTIFTLGTRGSVISPTELEAPILVPHTAQRGEQRYPFEALFRSQHY ALLDNSCREYLFICEFFVVSGPAAHDLFHAVMGRTLSMTLKHLDSYLADCYDAIAVFLCIHIVL RFRNIAAKRDVPALDRYWEQVLALLWPRFELILEMNVQSVRSTDPQRLGGLDTRPHYITRRYAE FSSALVSINQTIPNERTMQLLGQLQVEVENFVLRVAAEFSSRKEQLVFLINNYDMMLGVLMERA ADDSKEVESFQQLLNARTQEFIEELLSPPFGGLVAFVKEAEALIERGQAERLRGEEARVTQLIR GFGSSWKSSVESLSQDVMRSFTNFRNGTSIIQGALTQLIQLYHRFHRVLSQPQLRALPARAELI NIHHLMVELKKHKPNF hide sequence

RefSeq Acc Id:

XP_016866668 ⟸ XM_017011179

- Peptide Label:

isoform X1

- Sequence:

show sequence

MAAAATMAAAARELVLRAGTSDMEEEEGPLAGGPGLQEPLQLGELDITSDEFILDEVDVHIQAN
LEDELVKEALKTGVDLRHYSKQVELELQQIEQKSIRDYIQESENIASLHNQITACDAVLERMEQ
MLGAFQSDLSSISSEIRTLQEQSGAMNIRLRNRQAVRGKLGELVDGLVVPSALVTAILEAPVTE
PRFLEQLQELDAKAAAVREQEARGTAACADVRGVLDRLRVKAVTKIREFILQKIYSFRKPMTNY
QIPQTALLKYRFFYQFLLGNERATAKEIRDEYVETLSKIYLSYYRSYLGRLMKVQYEEVAEKDD
LMGVEDTAKKGFFSKPSLRSRNTIFTLGTRGSVISPTELEAPILVPHTAQRGEQRTWEWPSPIT
PACCDVKRAGNH

hide sequence

Ensembl Acc Id:

ENSP00000436612 ⟸ ENST00000482399

Ensembl Acc Id:

ENSP00000409952 ⟸ ENST00000445902

RefSeq Acc Id:	XP_054212171 ⟸ XM_054356196
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054212170 ⟸ XM_054356195
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054212172 ⟸ XM_054356197
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054212173 ⟸ XM_054356198
- Peptide Label:	isoform X1

Protein Domains

Vps52 C-terminal Vps52 coiled-coil

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8N1B4-F1-model_v2	AlphaFold	Q8N1B4	1-723	view protein structure

Promoters

RGD ID:

6872844

Promoter ID:

EPDNEW_H9587

Type:

initiation region

Name:

VPS52_2

Description:

VPS52, GARP complex subunit

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9588 EPDNEW_H9590

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,271,688 - 33,271,748	EPDNEW

RGD ID:

6872846

Promoter ID:

EPDNEW_H9588

Type:

initiation region

Name:

VPS52_1

Description:

VPS52, GARP complex subunit

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9587 EPDNEW_H9590

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,271,864 - 33,271,924	EPDNEW

RGD ID:

6872850

Promoter ID:

EPDNEW_H9590

Type:

initiation region

Name:

VPS52_3

Description:

VPS52, GARP complex subunit

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H9587 EPDNEW_H9588

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	33,277,561 - 33,277,621	EPDNEW

RGD ID:

6805006

Promoter ID:

HG_KWN:53178

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

OTTHUMT00000076607, OTTHUMT00000276264, OTTHUMT00000276265, OTTHUMT00000276266

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	33,339,574 - 33,340,074 (-)	MPROMDB

RGD ID:

6805005

Promoter ID:

HG_KWN:53180

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000076605

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	33,344,431 - 33,344,931 (-)	MPROMDB

RGD ID:

6803936

Promoter ID:

HG_KWN:53181

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid

Transcripts:

UC003ODO.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	33,347,116 - 33,347,616 (-)	MPROMDB

RGD ID:

6804042

Promoter ID:

HG_KWN:53182

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, K562, Lymphoblastoid

Transcripts:

ENST00000374638, OTTHUMT00000076598, OTTHUMT00000076599, OTTHUMT00000076601, OTTHUMT00000076602, OTTHUMT00000156312

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	33,348,456 - 33,348,956 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:10518	AgrOrtholog
COSMIC	VPS52	COSMIC
Ensembl Genes	ENSG00000206286	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000223501	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000223618	UniProtKB/TrEMBL
	ENSG00000224455	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000225590	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000228425	UniProtKB/Swiss-Prot
	ENSG00000236014	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000383210.4	UniProtKB/Swiss-Prot
	ENST00000421357.5	UniProtKB/TrEMBL
	ENST00000428608.2	UniProtKB/Swiss-Prot
	ENST00000441058.2	UniProtKB/Swiss-Prot
	ENST00000443860.2	UniProtKB/Swiss-Prot
	ENST00000445902	ENTREZGENE
	ENST00000445902.3	UniProtKB/Swiss-Prot
	ENST00000448042.2	UniProtKB/Swiss-Prot
	ENST00000461476.5	UniProtKB/TrEMBL
	ENST00000462479.1	UniProtKB/TrEMBL
	ENST00000476725.6	UniProtKB/TrEMBL
	ENST00000478392.5	UniProtKB/TrEMBL
	ENST00000478934	ENTREZGENE
	ENST00000482399.5	UniProtKB/TrEMBL
	ENST00000497240.5	UniProtKB/TrEMBL
GTEx	ENSG00000206286	GTEx
	ENSG00000223501	GTEx
	ENSG00000223618	GTEx
	ENSG00000224455	GTEx
	ENSG00000225590	GTEx
	ENSG00000228425	GTEx
	ENSG00000236014	GTEx
HGNC ID	HGNC:10518	ENTREZGENE
Human Proteome Map	VPS52	Human Proteome Map
InterPro	Vps52	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Vps52_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Vps52_CC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:6293	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	6293	ENTREZGENE
OMIM	603443	OMIM
PANTHER	PTHR14190	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	VACUOLAR PROTEIN SORTING-ASSOCIATED PROTEIN 52 HOMOLOG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Vps52	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Vps52_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA34926	PharmGKB
UniProt	A0A0G2JIG2_HUMAN	UniProtKB/TrEMBL
	A0A1U9X8S4	ENTREZGENE, UniProtKB/TrEMBL
	A2BF38	ENTREZGENE
	B0UZZ4	ENTREZGENE
	B3KMF7	ENTREZGENE, UniProtKB/TrEMBL
	B4DNI9	ENTREZGENE
	B4DS44	ENTREZGENE, UniProtKB/TrEMBL
	E9PI03_HUMAN	UniProtKB/TrEMBL
	Q4VXZ2	ENTREZGENE, UniProtKB/TrEMBL
	Q53GR4	ENTREZGENE
	Q5JPA0	ENTREZGENE
	Q5SQW1	ENTREZGENE
	Q8IUN6	ENTREZGENE
	Q8N1B4	ENTREZGENE
	Q9NPT5	ENTREZGENE
	VPS52_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	A2BF38	UniProtKB/Swiss-Prot
	B0UZZ4	UniProtKB/Swiss-Prot
	B4DNI9	UniProtKB/Swiss-Prot
	Q53GR4	UniProtKB/Swiss-Prot
	Q5JPA0	UniProtKB/Swiss-Prot
	Q5SQW1	UniProtKB/Swiss-Prot
	Q8IUN6	UniProtKB/Swiss-Prot
	Q9NPT5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	VPS52	VPS52 subunit of GARP complex	VPS52	VPS52, GARP complex subunit	Symbol and/or name change	5135510	APPROVED
2016-03-07	VPS52	VPS52, GARP complex subunit	VPS52	VPS52 GARP complex subunit	Symbol and/or name change	5135510	APPROVED
2015-11-24	VPS52	VPS52 GARP complex subunit	VPS52	vacuolar protein sorting 52 homolog (S. cerevisiae)	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)

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