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Gene: KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) Homo sapiens

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Symbol:

KDELR2

Name:

KDEL endoplasmic reticulum protein retention receptor 2

RGD ID:

1312161

HGNC Page

HGNC:6305

Description:

Enables KDEL sequence binding activity. Involved in maintenance of protein localization in endoplasmic reticulum and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in COPI-coated vesicle membrane; Golgi membrane; and endoplasmic reticulum membrane. Implicated in osteogenesis imperfecta type 21.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

(Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2; ELP-1; ELP1; ER lumen protein retaining receptor 2; ER lumen protein-retaining receptor 2; ERD-2-like protein; ERD2-like protein 1; ERD2.2; FLJ45532; KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2; KDEL receptor 2; OI21

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	7	6,461,089 - 6,484,152 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	6,445,953 - 6,484,190 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	6,500,720 - 6,523,783 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	6,467,237 - 6,490,374 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	6,275,509 - 6,296,940	NCBI
Celera	7	6,211,338 - 6,234,431 (+)	NCBI		Celera
Cytogenetic Map	7	p22.1	NCBI
HuRef	7	6,373,518 - 6,395,670 (-)	NCBI		HuRef
CHM1_1	7	6,500,302 - 6,523,431 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	6,580,398 - 6,603,413 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	6,547,172 - 6,570,287 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KDELR2	Human	osteogenesis imperfecta type 21		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Osteogenesis imperfecta and type 21	ClinVar	PMID:33053334
KDELR2	Human	osteogenesis imperfecta type 21		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Osteogenesis imperfecta and type 21	ClinVar	PMID:33964184
KDELR2	Human	osteogenesis imperfecta type 21		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Osteogenesis imperfecta and type 21	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KDELR2	Human	osteogenesis imperfecta type 21		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KDELR2	Human	1,2-dimethylhydrazine	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of KDELR2 mRNA	CTD	PMID:22206623
KDELR2	Human	17alpha-ethynylestradiol	multiple interactions	ISO	Kdelr2 (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of KDELR2 mRNA	CTD	PMID:17942748
KDELR2	Human	17alpha-ethynylestradiol	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Ethinyl Estradiol affects the expression of KDELR2 mRNA	CTD	PMID:26865667
KDELR2	Human	17alpha-ethynylestradiol	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	Ethinyl Estradiol results in increased expression of KDELR2 mRNA	CTD	PMID:17555576 and PMID:17942748
KDELR2	Human	17beta-estradiol	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	Estradiol results in increased expression of KDELR2 mRNA	CTD	PMID:39298647
KDELR2	Human	17beta-hydroxy-5alpha-androstan-3-one	increases expression	EXP		6480464	Dihydrotestosterone results in increased expression of KDELR2 mRNA	CTD	PMID:29581250
KDELR2	Human	2,2',4,4'-Tetrabromodiphenyl ether	increases expression	EXP		6480464	2 more ...	CTD	PMID:19095052
KDELR2	Human	2,2',4,4'-Tetrabromodiphenyl ether	multiple interactions	ISO	Kdelr2 (Mus musculus)	6480464	[Flame Retardants results in increased abundance of 2 more ...	CTD	PMID:38995820
KDELR2	Human	2,2',4,4'-Tetrabromodiphenyl ether	affects expression	ISO	Kdelr2 (Mus musculus)	6480464	2 more ...	CTD	PMID:30294300
KDELR2	Human	2,3',4,4',5-Pentachlorobiphenyl	decreases expression	ISO	Kdelr2 (Mus musculus)	6480464	2 more ...	CTD	PMID:31388691
KDELR2	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Kdelr2 (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of KDELR2 mRNA	CTD	PMID:17942748
KDELR2	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Kdelr2 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of KDELR2 mRNA	CTD	PMID:21570461
KDELR2	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of KDELR2 mRNA	CTD	PMID:17942748
KDELR2	Human	2-methylcholine	affects expression	EXP		6480464	beta-methylcholine affects the expression of KDELR2 mRNA	CTD	PMID:21179406
KDELR2	Human	5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Omeprazole affects the expression of KDELR2 mRNA	CTD	PMID:19483382
KDELR2	Human	6-propyl-2-thiouracil	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Propylthiouracil affects the expression of KDELR2 mRNA	CTD	PMID:19483382
KDELR2	Human	amiodarone	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Amiodarone affects the expression of KDELR2 mRNA	CTD	PMID:19483382
KDELR2	Human	amitrole	decreases expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Amitrole results in decreased expression of KDELR2 mRNA	CTD	PMID:38685447
KDELR2	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of KDELR2 mRNA	CTD	PMID:22378314
KDELR2	Human	benzbromarone	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Benzbromarone affects the expression of KDELR2 mRNA	CTD	PMID:19483382
KDELR2	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of KDELR2 mRNA	CTD	PMID:26238291
KDELR2	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of KDELR2 promoter	CTD	PMID:27901495
KDELR2	Human	beta-hexachlorocyclohexane	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	beta-hexachlorocyclohexane results in increased expression of KDELR2 mRNA	CTD	PMID:25270620
KDELR2	Human	bis(2-ethylhexyl) phthalate	increases expression	EXP		6480464	Diethylhexyl Phthalate results in increased expression of KDELR2 mRNA	CTD	PMID:31163220
KDELR2	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	Diethylhexyl Phthalate results in increased expression of KDELR2 mRNA	CTD	PMID:33754040
KDELR2	Human	bis(2-ethylhexyl) phthalate	increases methylation	ISO	Kdelr2 (Mus musculus)	6480464	Diethylhexyl Phthalate results in increased methylation of KDELR2 gene	CTD	PMID:32864567
KDELR2	Human	bisphenol A	decreases expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of KDELR2 mRNA	CTD	PMID:30816183 and PMID:34947998
KDELR2	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of KDELR2 mRNA	CTD	PMID:30903817
KDELR2	Human	cadmium sulfate	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	cadmium sulfate results in increased expression of KDELR2 mRNA	CTD	PMID:16221973
KDELR2	Human	carbamazepine	affects expression	EXP		6480464	Carbamazepine affects the expression of KDELR2 mRNA	CTD	PMID:25979313
KDELR2	Human	carbon nanotube	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681 and PMID:25620056
KDELR2	Human	chlorpyrifos	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	Chlorpyrifos results in increased expression of KDELR2 mRNA	CTD	PMID:37019170
KDELR2	Human	clobetasol	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	Clobetasol results in increased expression of KDELR2 mRNA	CTD	PMID:27462272
KDELR2	Human	clofibrate	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Clofibrate affects the expression of KDELR2 mRNA	CTD	PMID:19483382
KDELR2	Human	copper(II) sulfate	decreases expression	EXP		6480464	Copper Sulfate results in decreased expression of KDELR2 mRNA	CTD	PMID:19549813
KDELR2	Human	crocidolite asbestos	increases expression	EXP		6480464	Asbestos and Crocidolite results in increased expression of KDELR2 mRNA	CTD	PMID:18687144
KDELR2	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of KDELR2 mRNA	CTD	PMID:20106945 and PMID:27989131
KDELR2	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of KDELR2 mRNA	CTD	PMID:25562108
KDELR2	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of KDELR2 mRNA	CTD	PMID:37042841
KDELR2	Human	diuron	decreases expression	EXP		6480464	Diuron results in decreased expression of KDELR2 mRNA	CTD	PMID:35967413
KDELR2	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
KDELR2	Human	endosulfan	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Endosulfan affects the expression of KDELR2 mRNA	CTD	PMID:29391264
KDELR2	Human	flutamide	increases expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Flutamide results in increased expression of KDELR2 mRNA	CTD	PMID:24136188
KDELR2	Human	folic acid	decreases expression	ISO	Kdelr2 (Mus musculus)	6480464	Folic Acid results in decreased expression of KDELR2 mRNA	CTD	PMID:25629700
KDELR2	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of KDELR2 mRNA	CTD	PMID:23649840
KDELR2	Human	genistein	increases expression	EXP		6480464	Genistein results in increased expression of KDELR2 mRNA	CTD	PMID:26865667
KDELR2	Human	gentamycin	increases expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of KDELR2 mRNA	CTD	PMID:22061828
KDELR2	Human	gentamycin	decreases expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Gentamicins results in decreased expression of KDELR2 mRNA	CTD	PMID:33387578
KDELR2	Human	glafenine	increases expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Glafenine results in increased expression of KDELR2 mRNA	CTD	PMID:24136188
KDELR2	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of KDELR2 protein	CTD	PMID:32959892
KDELR2	Human	L-ethionine	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Ethionine affects the expression of KDELR2 mRNA	CTD	PMID:19483382
KDELR2	Human	mercury atom	decreases expression	ISO	Kdelr2 (Mus musculus)	6480464	Mercury analog results in decreased expression of KDELR2 mRNA	CTD	PMID:25056781
KDELR2	Human	mercury(0)	decreases expression	ISO	Kdelr2 (Mus musculus)	6480464	Mercury analog results in decreased expression of KDELR2 mRNA	CTD	PMID:25056781
KDELR2	Human	methidathion	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	methidathion results in increased expression of KDELR2 mRNA	CTD	PMID:34813904
KDELR2	Human	methyl methanesulfonate	decreases expression	EXP		6480464	Methyl Methanesulfonate results in decreased expression of KDELR2 mRNA	CTD	PMID:23649840
KDELR2	Human	methylmercury chloride	increases expression	EXP		6480464	methylmercuric chloride results in increased expression of KDELR2 mRNA	CTD	PMID:28001369
KDELR2	Human	methylseleninic acid	decreases expression	EXP		6480464	methylselenic acid results in decreased expression of KDELR2 mRNA	CTD	PMID:18548127
KDELR2	Human	mifepristone	increases expression	EXP		6480464	Mifepristone results in increased expression of KDELR2 mRNA	CTD	PMID:17584828
KDELR2	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of KDELR2 mRNA	CTD	PMID:24768652 and PMID:25583101
KDELR2	Human	nitrates	multiple interactions	ISO	Kdelr2 (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of KDELR2 mRNA	CTD	PMID:35964746
KDELR2	Human	Nivalenol	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	nivalenol results in increased expression of KDELR2 mRNA	CTD	PMID:35016910
KDELR2	Human	omeprazole	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Omeprazole affects the expression of KDELR2 mRNA	CTD	PMID:19483382
KDELR2	Human	paracetamol	affects expression	ISO	Kdelr2 (Mus musculus)	6480464	Acetaminophen affects the expression of KDELR2 mRNA	CTD	PMID:17562736
KDELR2	Human	phenylmercury acetate	increases expression	EXP		6480464	Phenylmercuric Acetate results in increased expression of KDELR2 mRNA	CTD	PMID:26272509
KDELR2	Human	phenylmercury acetate	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KDELR2 mRNA	CTD	PMID:27188386
KDELR2	Human	picoxystrobin	increases expression	EXP		6480464	picoxystrobin results in increased expression of KDELR2 mRNA	CTD	PMID:33512557
KDELR2	Human	pirinixic acid	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	pirinixic acid results in increased expression of KDELR2 mRNA	CTD	PMID:18445702
KDELR2	Human	pirinixic acid	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	pirinixic acid affects the expression of KDELR2 mRNA	CTD	PMID:19483382
KDELR2	Human	piroxicam	decreases expression	EXP		6480464	Piroxicam results in decreased expression of KDELR2 mRNA	CTD	PMID:21858171
KDELR2	Human	propiconazole	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	propiconazole results in increased expression of KDELR2 mRNA	CTD	PMID:21278054
KDELR2	Human	pyrimidifen	increases expression	EXP		6480464	pyrimidifen results in increased expression of KDELR2 mRNA	CTD	PMID:33512557
KDELR2	Human	rotenone	decreases expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Rotenone results in decreased expression of KDELR2 mRNA	CTD	PMID:19013527
KDELR2	Human	Salinomycin	decreases expression	EXP		6480464	salinomycin results in decreased expression of KDELR2 mRNA	CTD	PMID:19682730
KDELR2	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
KDELR2	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of KDELR2 mRNA	CTD	PMID:38568856
KDELR2	Human	T-2 toxin	decreases expression	EXP		6480464	T-2 Toxin results in decreased expression of KDELR2 mRNA	CTD	PMID:31863870
KDELR2	Human	tamoxifen	affects expression	ISO	Kdelr2 (Mus musculus)	6480464	Tamoxifen affects the expression of KDELR2 mRNA	CTD	PMID:17555576
KDELR2	Human	temozolomide	increases expression	EXP		6480464	Temozolomide results in increased expression of KDELR2 mRNA	CTD	PMID:31758290
KDELR2	Human	tetrachloromethane	increases expression	ISO	Kdelr2 (Mus musculus)	6480464	Carbon Tetrachloride results in increased expression of KDELR2 mRNA	CTD	PMID:27339419 and PMID:31919559
KDELR2	Human	thapsigargin	increases expression	EXP		6480464	Thapsigargin results in increased expression of KDELR2 mRNA	CTD	PMID:22378314
KDELR2	Human	thifluzamide	increases expression	EXP		6480464	thifluzamide results in increased expression of KDELR2 mRNA	CTD	PMID:33512557
KDELR2	Human	thioacetamide	affects expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	Thioacetamide affects the expression of KDELR2 mRNA	CTD	PMID:19483382
KDELR2	Human	titanium dioxide	decreases methylation	ISO	Kdelr2 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of KDELR2 promoter	CTD	PMID:35295148
KDELR2	Human	trichloroethene	decreases expression	ISO	Kdelr2 (Mus musculus)	6480464	Trichloroethylene results in decreased expression of KDELR2 mRNA	CTD	PMID:19448997
KDELR2	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of KDELR2 mRNA	CTD	PMID:24935251 and PMID:26272509
KDELR2	Human	trichostatin A	multiple interactions	EXP		6480464	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KDELR2 mRNA	CTD	PMID:27188386
KDELR2	Human	tunicamycin	increases expression	EXP		6480464	Tunicamycin results in increased expression of KDELR2 mRNA	CTD	PMID:22378314
KDELR2	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of KDELR2 mRNA	CTD	PMID:19101580 more ...
KDELR2	Human	valproic acid	affects splicing	ISO	Kdelr2 (Rattus norvegicus)	6480464	Valproic Acid affects the splicing of KDELR2 mRNA	CTD	PMID:29427782
KDELR2	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KDELR2 mRNA	CTD	PMID:27188386
KDELR2	Human	vinclozolin	decreases expression	ISO	Kdelr2 (Rattus norvegicus)	6480464	vinclozolin results in decreased expression of KDELR2 mRNA	CTD	PMID:23034163

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KDELR2	Human	maintenance of protein localization in endoplasmic reticulum	involved_in	IMP		150520179	PMID:33053334	UniProt	PMID:33053334
KDELR2	Human	protein retention in ER lumen	involved_in	IEA	InterPro:IPR000133	150520179		InterPro	GO_REF:0000002
KDELR2	Human	protein retention in ER lumen	involved_in	IBA	FB:FBgn0267330 more ...	150520179		GO_Central	GO_REF:0000033
KDELR2	Human	protein transport	involved_in	IEA	UniProtKB-KW:KW-0653	150520179		UniProt	GO_REF:0000043
KDELR2	Human	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	involved_in	IMP		150520179	PMID:33053334	UniProt	PMID:33053334
KDELR2	Human	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	involved_in	IDA		150520179	PMID:1325562 and PMID:18086916	UniProt	PMID:1325562 and PMID:18086916
KDELR2	Human	vesicle-mediated transport	involved_in	IEA	UniProtKB-KW:KW-0931	150520179		UniProt	GO_REF:0000043

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KDELR2	Human	cis-Golgi network	located_in	ISO	Kdelr2 (Rattus norvegicus)	9068941	PMID:19474315	MGI	PMID:19474315 and REF_RGD_ID:8554250
KDELR2	Human	cis-Golgi network	is_active_in	IBA	MGI:1915387 more ...	150520179		GO_Central	GO_REF:0000033
KDELR2	Human	COPI-coated vesicle membrane	located_in	IDA		150520179	PMID:18086916	UniProt	PMID:18086916
KDELR2	Human	COPI-coated vesicle membrane	located_in	IEA	UniProtKB-SubCell:SL-0076	150520179		UniProt	GO_REF:0000044
KDELR2	Human	cytoplasmic vesicle	located_in	IEA	UniProtKB-KW:KW-0968	150520179		UniProt	GO_REF:0000043
KDELR2	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
KDELR2	Human	endoplasmic reticulum	is_active_in	IBA	MGI:1915387 more ...	150520179		GO_Central	GO_REF:0000033
KDELR2	Human	endoplasmic reticulum	located_in	IEA	ARBA:ARBA00028672	150520179		UniProt	GO_REF:0000117
KDELR2	Human	endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0097	150520179		UniProt	GO_REF:0000044
KDELR2	Human	endoplasmic reticulum membrane	located_in	IDA		150520179	PMID:1325562 and PMID:18086916	UniProt	PMID:1325562 and PMID:18086916
KDELR2	Human	endoplasmic reticulum membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6811423 and Reactome:R-HSA-6811427
KDELR2	Human	Golgi apparatus	located_in	IEA	UniProtKB-KW:KW-0333	150520179		UniProt	GO_REF:0000043
KDELR2	Human	Golgi membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6811417 and Reactome:R-HSA-6811418
KDELR2	Human	Golgi membrane	located_in	IDA		150520179	PMID:1325562 and PMID:18086916	UniProt	PMID:1325562 and PMID:18086916
KDELR2	Human	Golgi membrane	located_in	IEA	UniProtKB-SubCell:SL-0134	150520179		UniProt	GO_REF:0000044
KDELR2	Human	membrane	located_in	ISS	UniProtKB:Q5ZKX9	150520179		UniProt	GO_REF:0000024
KDELR2	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
KDELR2	Human	membrane	located_in	IEA	InterPro:IPR000133	150520179		InterPro	GO_REF:0000002
KDELR2	Human	transport vesicle	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6811418 more ...

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KDELR2	Human	ER retention sequence binding	enables	IEA	InterPro:IPR000133	150520179		InterPro	GO_REF:0000002
KDELR2	Human	ER retention sequence binding	enables	IBA	PANTHER:PTN000062353 more ...	150520179		GO_Central	GO_REF:0000033
KDELR2	Human	KDEL sequence binding	enables	IDA		150520179	PMID:1325562 and PMID:18086916	UniProt	PMID:1325562 and PMID:18086916

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KDELR2	Human	Vibrio cholerae infection pathway		IEA		6907045		KEGG	hsa:05110

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
KDELR2	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Barrel-shaped chest		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Bell-shaped thorax		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Bowing of the arm		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Bowing of the legs		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Childhood onset		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Coxa valga		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Coxa vara		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Disproportionate short-limb short stature		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Fetal onset		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Hypotonia		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Infantile onset		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Joint hypermobility		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Motor delay		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Osteoporosis		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Pectus excavatum		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Pes planus		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Pes valgus		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Platyspondyly		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Recurrent fractures		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Scoliosis		IAGP		8699517		HPO	MIM:619131 and PMID:33053334
KDELR2	Human	Wormian bones		IAGP		8699517		HPO	MIM:619131 and PMID:33053334

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:1316805	PMID:1325562	PMID:9118249	PMID:11752456	PMID:12071860	PMID:12477932	PMID:12690205	PMID:12853948	PMID:14702039	PMID:15489334	PMID:16344560	PMID:17353931
PMID:18086916	PMID:19322201	PMID:21873635	PMID:23376485	PMID:24189400	PMID:24981860	PMID:25248455	PMID:25569479	PMID:25682866	PMID:25959826	PMID:25963833	PMID:26618866
PMID:26638075	PMID:26687479	PMID:27025967	PMID:28205554	PMID:28611215	PMID:29117863	PMID:29615496	PMID:30621148	PMID:30760704	PMID:31342232	PMID:31678930	PMID:31732153
PMID:32060556	PMID:32534703	PMID:32645101	PMID:32877691	PMID:33053334	PMID:33731348	PMID:33961781	PMID:33964184	PMID:34079125	PMID:34146461	PMID:34709727	PMID:35575683
PMID:36305789	PMID:36604567	PMID:37667382	PMID:38891874	PMID:39365189	PMID:39823405

KDELR2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	6,461,089 - 6,484,152 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	6,445,953 - 6,484,190 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	6,500,720 - 6,523,783 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	6,467,237 - 6,490,374 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	6,275,509 - 6,296,940	NCBI
Celera	7	6,211,338 - 6,234,431 (+)	NCBI		Celera
Cytogenetic Map	7	p22.1	NCBI
HuRef	7	6,373,518 - 6,395,670 (-)	NCBI		HuRef
CHM1_1	7	6,500,302 - 6,523,431 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	7	6,580,398 - 6,603,413 (-)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	6,547,172 - 6,570,287 (-)	NCBI

Kdelr2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	143,389,575 - 143,407,659 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	143,389,593 - 143,407,656 (+)	Ensembl		GRCm39 Ensembl
GRCm38	5	143,403,820 - 143,421,904 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	143,403,838 - 143,421,901 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	144,165,499 - 144,182,955 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	144,165,505 - 144,182,947 (+)	NCBI		MGSCv36	mm8
Celera	5	140,450,973 - 140,468,362 (+)	NCBI		Celera
Cytogenetic Map	5	G2	NCBI
cM Map	5	82.12	NCBI

Kdelr2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	16,252,424 - 16,270,737 (-)	NCBI		GRCr8
mRatBN7.2	12	11,138,820 - 11,157,117 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	11,138,820 - 11,157,153 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	11,946,125 - 11,964,325 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	12,569,412 - 12,587,613 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	11,595,547 - 11,613,739 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	13,192,452 - 13,210,758 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	13,192,453 - 13,210,758 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	15,232,465 - 15,250,771 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	11,498,420 - 11,513,595 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	12	11,524,186 - 11,543,482 (-)	NCBI
Celera	12	12,932,160 - 12,950,458 (-)	NCBI		Celera
Cytogenetic Map	12	p11	NCBI

Kdelr2
(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_004955460	13,202,401 - 13,221,319 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955460	13,202,400 - 13,221,319 (+)	NCBI	ChiLan1.0	ChiLan1.0

KDELR2
(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	6	11,188,025 - 11,211,263 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	59,512,862 - 59,535,981 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	6,960,456 - 6,983,515 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	6,654,430 - 6,667,794 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

KDELR2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	11,796,586 - 11,815,765 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	11,798,377 - 11,815,760 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	13,421,923 - 13,441,095 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	11,798,777 - 11,817,951 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	11,799,791 - 11,817,956 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	11,674,580 - 11,693,744 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	11,654,175 - 11,673,193 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	11,880,887 - 11,900,112 (-)	NCBI		UU_Cfam_GSD_1.0

Kdelr2
(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_024409344	140,024,950 - 140,042,738 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936765	15,820 - 33,932 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936765	16,017 - 33,812 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

KDELR2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	4,716,646 - 4,735,300 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	4,716,651 - 4,735,303 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

KDELR2
(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	28	15,671,314 - 15,694,192 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	28	15,672,442 - 15,694,148 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666102	377,263 - 401,933 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Kdelr2
(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_004624740	30,853,425 - 30,873,754 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624740	30,853,252 - 30,875,730 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in KDELR2
35 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	copy number loss	See cases [RCV000050923]	Chr7:6106402..11012657 [GRCh38] Chr7:6146033..11052284 [GRCh37] Chr7:6112559..11018809 [NCBI36] Chr7:7p22.1-21.3	pathogenic
GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	copy number loss	See cases [RCV000052256]	Chr7:5062000..6692258 [GRCh38] Chr7:5101631..6731889 [GRCh37] Chr7:5068157..6698414 [NCBI36] Chr7:7p22.1	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	copy number gain	See cases [RCV000051159]	Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	copy number gain	See cases [RCV000053408]	Chr7:4876621..6492003 [GRCh38] Chr7:4916252..6531634 [GRCh37] Chr7:4882778..6498159 [NCBI36] Chr7:7p22.1	uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3	copy number gain	See cases [RCV000053528]	Chr7:53985..24361531 [GRCh38] Chr7:53985..24401150 [GRCh37] Chr7:149068..24367675 [NCBI36] Chr7:7p22.3-15.3	pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]\|See cases [RCV000053529]	Chr7:54185..8274834 [GRCh38] Chr7:54185..8314464 [GRCh37] Chr7:149268..8280989 [NCBI36] Chr7:7p22.3-21.3	pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	copy number gain	See cases [RCV000053530]	Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2	pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	copy number gain	See cases [RCV000515563]	Chr7:2789546..9066894 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	copy number gain	See cases [RCV000143586]	Chr7:43360..27196404 [GRCh38] Chr7:43360..27236023 [GRCh37] Chr7:138443..27202548 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	copy number gain	See cases [RCV000136557]	Chr7:54185..26827634 [GRCh38] Chr7:54185..26867253 [GRCh37] Chr7:149268..26833778 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	copy number gain	See cases [RCV000136649]	Chr7:5682209..27230311 [GRCh38] Chr7:5721840..27269930 [GRCh37] Chr7:5688366..27236455 [NCBI36] Chr7:7p22.1-15.2	pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	copy number gain	See cases [RCV000136731]	Chr7:54185..6638027 [GRCh38] Chr7:54185..6677658 [GRCh37] Chr7:149268..6644183 [NCBI36] Chr7:7p22.3-22.1	pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	copy number gain	See cases [RCV000137524]	Chr7:45130..7252065 [GRCh38] Chr7:45130..7291696 [GRCh37] Chr7:140213..7258221 [NCBI36] Chr7:7p22.3-21.3	pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	copy number gain	See cases [RCV000137824]	Chr7:45130..25221165 [GRCh38] Chr7:45130..25260784 [GRCh37] Chr7:140213..25227309 [NCBI36] Chr7:7p22.3-15.3	pathogenic
GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	copy number gain	See cases [RCV000139037]	Chr7:5331115..6751518 [GRCh38] Chr7:5370746..6791149 [GRCh37] Chr7:5337272..6757674 [NCBI36] Chr7:7p22.1	likely pathogenic
GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3	copy number gain	See cases [RCV000140742]	Chr7:6213720..6697571 [GRCh38] Chr7:6253351..6737202 [GRCh37] Chr7:6219876..6703727 [NCBI36] Chr7:7p22.1	uncertain significance
GRCh38/hg38 7p22.1(chr7:6257137-6575271)x1	copy number loss	See cases [RCV000142488]	Chr7:6257137..6575271 [GRCh38] Chr7:6296768..6614902 [GRCh37] Chr7:6263293..6581427 [NCBI36] Chr7:7p22.1	uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	copy number gain	See cases [RCV000143060]	Chr7:1698124..27207295 [GRCh38] Chr7:1737760..27246914 [GRCh37] Chr7:1704286..27213439 [NCBI36] Chr7:7p22.3-15.2	pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	copy number gain	See cases [RCV000510652]	Chr7:43360..23674928 [GRCh37] Chr7:7p22.3-15.3	pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	copy number gain	See cases [RCV000510275]	Chr7:704573..29257946 [GRCh37] Chr7:7p22.3-14.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	copy number gain	See cases [RCV000511909]	Chr7:4839046..7110343 [GRCh37] Chr7:7p22.1	likely pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	copy number gain	See cases [RCV000511772]	Chr7:43360..14664158 [GRCh37] Chr7:7p22.3-21.2	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.1(chr7:6202675-6579535)x3	copy number gain	See cases [RCV000240466]	Chr7:6202675..6579535 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	copy number gain	See cases [RCV000449446]	Chr7:183556..12746636 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3	copy number gain	See cases [RCV000449347]	Chr7:43360..17656861 [GRCh37] Chr7:7p22.3-21.1	pathogenic
NM_006854.4(KDELR2):c.356T>C (p.Leu119Pro)	single nucleotide variant	not specified [RCV004305346]	Chr7:6466319 [GRCh38] Chr7:6505950 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6465815-6601692)x1	copy number loss	not provided [RCV000845595]	Chr7:6465815..6601692 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6290521-6535060)x3	copy number gain	not provided [RCV000849690]	Chr7:6290521..6535060 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NC_000007.14:g.6484193C>T	single nucleotide variant	not provided [RCV001678336]	Chr7:6484193 [GRCh38] Chr7:6523824 [GRCh37] Chr7:7p22.1	benign
GRCh37/hg19 7p22.1(chr7:6394921-6762394)x3	copy number gain	not provided [RCV001005903]	Chr7:6394921..6762394 [GRCh37] Chr7:7p22.1	uncertain significance
NC_000007.14:g.6484383T>C	single nucleotide variant	not provided [RCV001694489]	Chr7:6484383 [GRCh38] Chr7:6524014 [GRCh37] Chr7:7p22.1	benign
NM_006854.4(KDELR2):c.192+36A>G	single nucleotide variant	not provided [RCV001680279]	Chr7:6474148 [GRCh38] Chr7:6513779 [GRCh37] Chr7:7p22.1	benign
NM_006854.4(KDELR2):c.34C>G (p.His12Asp)	single nucleotide variant	Osteogenesis imperfecta, type 21 [RCV001270696]\|not provided [RCV001573365]	Chr7:6484024 [GRCh38] Chr7:6523655 [GRCh37] Chr7:7p22.1	pathogenic\|uncertain significance
NM_006854.4(KDELR2):c.13C>T (p.Arg5Trp)	single nucleotide variant	Osteogenesis imperfecta, type 21 [RCV001449582]	Chr7:6484045 [GRCh38] Chr7:6523676 [GRCh37] Chr7:7p22.1	pathogenic
NM_006854.4(KDELR2):c.485A>G (p.Tyr162Cys)	single nucleotide variant	Osteogenesis imperfecta, type 21 [RCV001449583]	Chr7:6466190 [GRCh38] Chr7:6505821 [GRCh37] Chr7:7p22.1	pathogenic
NM_006854.4(KDELR2):c.398C>T (p.Pro133Leu)	single nucleotide variant	Osteogenesis imperfecta, type 21 [RCV001270697]	Chr7:6466277 [GRCh38] Chr7:6505908 [GRCh37] Chr7:7p22.1	pathogenic
NM_006854.4(KDELR2):c.360G>A (p.Trp120Ter)	single nucleotide variant	Osteogenesis imperfecta, type 21 [RCV001270698]	Chr7:6466315 [GRCh38] Chr7:6505946 [GRCh37] Chr7:7p22.1	pathogenic
NM_006854.4(KDELR2):c.405A>G (p.Leu135=)	single nucleotide variant	not provided [RCV001688215]	Chr7:6466270 [GRCh38] Chr7:6505901 [GRCh37] Chr7:7p22.1	benign
NC_000007.13:g.(?_6026370)_(6744804_?)dup	duplication	not provided [RCV002025469]	Chr7:6026370..6744804 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.505C>T (p.Arg169Cys)	single nucleotide variant	Osteogenesis imperfecta, type 21 [RCV002244165]	Chr7:6466170 [GRCh38] Chr7:6505801 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	copy number gain	See cases [RCV002292426]	Chr7:43360..9649794 [GRCh37] Chr7:7p22.3-21.3	pathogenic
NM_006854.4(KDELR2):c.562A>T (p.Thr188Ser)	single nucleotide variant	not specified [RCV004140475]	Chr7:6466113 [GRCh38] Chr7:6505744 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.437C>A (p.Thr146Asn)	single nucleotide variant	not specified [RCV004205183]	Chr7:6466238 [GRCh38] Chr7:6505869 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.494A>G (p.Asn165Ser)	single nucleotide variant	not specified [RCV004076060]	Chr7:6466181 [GRCh38] Chr7:6505812 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.71G>C (p.Trp24Ser)	single nucleotide variant	not specified [RCV004274811]	Chr7:6483987 [GRCh38] Chr7:6523618 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.617A>G (p.Lys206Arg)	single nucleotide variant	not specified [RCV004252256]	Chr7:6463163 [GRCh38] Chr7:6502794 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	copy number gain	not provided [RCV003484665]	Chr7:43361..8890475 [GRCh37] Chr7:7p22.3-21.3	pathogenic
NM_006854.4(KDELR2):c.*11C>T	single nucleotide variant	KDELR2-related disorder [RCV003923940]	Chr7:6463130 [GRCh38] Chr7:6502761 [GRCh37] Chr7:7p22.1	likely benign
NM_006854.4(KDELR2):c.177_178del	deletion	KDELR2-related disorder [RCV003946979]	Chr7:6462963..6462964 [GRCh38] Chr7:6502594..6502595 [GRCh37] Chr7:7p22.1	likely benign
NM_006854.4(KDELR2):c.145C>G (p.Leu49Val)	single nucleotide variant	not specified [RCV004628343]	Chr7:6474231 [GRCh38] Chr7:6513862 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.550G>A (p.Gly184Ser)	single nucleotide variant	not specified [RCV004628344]	Chr7:6466125 [GRCh38] Chr7:6505756 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.258C>T (p.Tyr86=)	single nucleotide variant	not provided [RCV004811774]	Chr7:6469689 [GRCh38] Chr7:6509320 [GRCh37] Chr7:7p22.1	likely benign
NM_006854.4(KDELR2):c.309A>G (p.Gly103=)	single nucleotide variant	not provided [RCV005245380]	Chr7:6469638 [GRCh38] Chr7:6509269 [GRCh37] Chr7:7p22.1	likely benign
NM_006854.4(KDELR2):c.281G>T (p.Arg94Leu)	single nucleotide variant	not specified [RCV004935615]	Chr7:6469666 [GRCh38] Chr7:6509297 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	copy number gain	See cases [RCV000510950]	Chr7:43360..12098696 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	copy number gain	See cases [RCV000512505]	Chr7:43360..11567351 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.1(chr7:6037640-6540147)x3	copy number gain	not provided [RCV000682851]	Chr7:6037640..6540147 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	copy number gain	not provided [RCV000682900]	Chr7:4388620..7302293 [GRCh37] Chr7:7p22.2-21.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.1(chr7:6520676-6753050)x1	copy number loss	not provided [RCV000746424]	Chr7:6520676..6753050 [GRCh37] Chr7:7p22.1	benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3	copy number gain	not provided [RCV000746277]	Chr7:10239..13116278 [GRCh37] Chr7:7p22.3-21.3	pathogenic
GRCh37/hg19 7p22.1(chr7:6440248-6621886)x3	copy number gain	not provided [RCV000849056]	Chr7:6440248..6621886 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6107516-6567122)x1	copy number loss	not provided [RCV001005901]	Chr7:6107516..6567122 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6517699-7294602)x3	copy number gain	not provided [RCV000846638]	Chr7:6517699..7294602 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	copy number gain	not provided [RCV000848100]	Chr7:43376..19520619 [GRCh37] Chr7:7p22.3-21.1	pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	copy number gain	not provided [RCV001005891]	Chr7:1648373..10627513 [GRCh37] Chr7:7p22.3-21.3	pathogenic
NM_006854.4(KDELR2):c.205G>A (p.Ala69Thr)	single nucleotide variant	not specified [RCV004303735]	Chr7:6469742 [GRCh38] Chr7:6509373 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:5919587-6762394)x3	copy number gain	not provided [RCV001259436]	Chr7:5919587..6762394 [GRCh37] Chr7:7p22.1	uncertain significance
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.1(chr7:6183858-7137555)x3	copy number gain	not provided [RCV001259435]	Chr7:6183858..7137555 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.448dup (p.His150fs)	duplication	Osteogenesis imperfecta, type 21 [RCV001270695]	Chr7:6466226..6466227 [GRCh38] Chr7:6505857..6505858 [GRCh37] Chr7:7p22.1	pathogenic
NC_000007.14:g.5986941_6669974dup	duplication	not provided [RCV001839146]	Chr7:5986941..6669974 [GRCh38] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	copy number gain	See cases [RCV002287567]	Chr7:43360..19485604 [GRCh37] Chr7:7p22.3-21.1	pathogenic
NM_006854.4(KDELR2):c.508T>G (p.Phe170Val)	single nucleotide variant	not specified [RCV004350668]	Chr7:6466167 [GRCh38] Chr7:6505798 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.65A>T (p.Lys22Met)	single nucleotide variant	not specified [RCV004344753]	Chr7:6483993 [GRCh38] Chr7:6523624 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3	copy number gain	not specified [RCV003986687]	Chr7:6007649..6753402 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.180C>A (p.Asn60Lys)	single nucleotide variant	not specified [RCV004408963]	Chr7:6474196 [GRCh38] Chr7:6513827 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.343C>T (p.Pro115Ser)	single nucleotide variant	not specified [RCV004408964]	Chr7:6469604 [GRCh38] Chr7:6509235 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.397C>G (p.Pro133Ala)	single nucleotide variant	not specified [RCV004408965]	Chr7:6466278 [GRCh38] Chr7:6505909 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.537T>G (p.Ile179Met)	single nucleotide variant	not specified [RCV004408966]	Chr7:6466138 [GRCh38] Chr7:6505769 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.619A>C (p.Lys207Gln)	single nucleotide variant	not specified [RCV004408967]	Chr7:6463161 [GRCh38] Chr7:6502792 [GRCh37] Chr7:7p22.1	uncertain significance
GRCh37/hg19 7p22.1(chr7:5999345-6628588)x3	copy number gain	not provided [RCV004819514]	Chr7:5999345..6628588 [GRCh37] Chr7:7p22.1	uncertain significance
NM_006854.4(KDELR2):c.249G>C (p.Lys83Asn)	single nucleotide variant	not specified [RCV004935614]	Chr7:6469698 [GRCh38] Chr7:6509329 [GRCh37] Chr7:7p22.1	uncertain significance

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR19A	hsa-miR-19a-3p	Mirtarbase	external_info	CLASH	Functional MTI (Weak)	23622248

Predicted Target Of

	Summary Value
Count of predictions:	1296
Count of miRNA genes:	762
Interacting mature miRNAs:	868
Transcripts:	ENST00000258739, ENST00000382267, ENST00000454368, ENST00000462052, ENST00000463747, ENST00000490996
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
407385832	GWAS1034808_H	obsolete_red blood cell distribution width QTL GWAS1034808 (human)		1e-27	obsolete_red blood cell distribution width		7	6481045	6481046	Human
596977079	GWAS1096598_H	Red cell distribution width QTL GWAS1096598 (human)		7e-17	Red cell distribution width		7	6463887	6463888	Human
597493465	GWAS1589539_H	osteoarthritis QTL GWAS1589539 (human)		2e-08	osteoarthritis		7	6466744	6466745	Human
596958449	GWAS1077968_H	Red cell distribution width QTL GWAS1077968 (human)		1e-27	Red cell distribution width		7	6481045	6481046	Human
1643391	BW322_H	Body weight QTL 322 (human)	2.69	0.0002	Body fat amount		7	1	22435431	Human
597357271	GWAS1453345_H	irritable bowel syndrome QTL GWAS1453345 (human)		0.000005	irritable bowel syndrome		7	6476404	6476405	Human
597493101	GWAS1589175_H	osteoarthritis QTL GWAS1589175 (human)		4e-08	osteoarthritis		7	6466744	6466745	Human
597376779	GWAS1472853_H	Red cell distribution width QTL GWAS1472853 (human)		1e-27	Red cell distribution width	red blood cell distribution width- standard deviation (CMO:0003232)	7	6481045	6481046	Human
1643402	BMD2_H	Bone mineral density QTL 2 (human)	2.69	0.0002	Bone mineral density		7	1	22435431	Human
407178966	GWAS827942_H	obsolete_red blood cell distribution width QTL GWAS827942 (human)		7e-17	obsolete_red blood cell distribution width		7	6463887	6463888	Human
597067653	GWAS1163727_H	monocyte count QTL GWAS1163727 (human)		9e-11	monocyte quantity (VT:0000223)	blood monocyte count (CMO:0000032)	7	6464609	6464610	Human
597492750	GWAS1588824_H	osteoarthritis QTL GWAS1588824 (human)		2e-10	osteoarthritis		7	6466744	6466745	Human
597493390	GWAS1589464_H	osteoarthritis QTL GWAS1589464 (human)		8e-10	osteoarthritis		7	6466744	6466745	Human
597492744	GWAS1588818_H	osteoarthritis QTL GWAS1588818 (human)		9e-10	osteoarthritis		7	6466744	6466745	Human
1643247	BW130_H	Body Weight QTL 130 (human)	1.28	0.008	Body weight	body mass index	7	1	17453493	Human
597105216	GWAS1201290_H	Red cell distribution width QTL GWAS1201290 (human)		7e-17	Red cell distribution width	red blood cell distribution width- standard deviation (CMO:0003232)	7	6463887	6463888	Human
596963759	GWAS1083278_H	blood protein measurement QTL GWAS1083278 (human)		5e-15	mean platelet volume		7	6462736	6462737	Human

SHGC-53741

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,513,750 - 6,513,920	UniSTS	GRCh37
Build 36	7	6,480,275 - 6,480,445	RGD	NCBI36
Celera	7	6,221,240 - 6,221,410	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,385,770 - 6,385,940	UniSTS
CRA_TCAGchr7v2	7	6,560,208 - 6,560,378	UniSTS
TNG Radiation Hybrid Map	7	3277.0	UniSTS

STS-T98803

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,501,720 - 6,501,889	UniSTS	GRCh37
Build 36	7	6,468,245 - 6,468,414	RGD	NCBI36
Celera	7	6,233,258 - 6,233,423	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,374,526 - 6,374,691	UniSTS
CRA_TCAGchr7v2	7	6,548,180 - 6,548,345	UniSTS
GeneMap99-GB4 RH Map	7	49.91	UniSTS
NCBI RH Map	7	147.2	UniSTS

A002G37

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,500,747 - 6,500,922	UniSTS	GRCh37
Build 36	7	6,467,272 - 6,467,447	RGD	NCBI36
Celera	7	6,234,221 - 6,234,396	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,373,553 - 6,373,728	UniSTS
CRA_TCAGchr7v2	7	6,547,207 - 6,547,382	UniSTS
GeneMap99-GB4 RH Map	7	47.89	UniSTS
Whitehead-RH Map	7	36.5	UniSTS
NCBI RH Map	7	147.2	UniSTS

RH91356

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,513,988 - 6,514,126	UniSTS	GRCh37
Build 36	7	6,480,513 - 6,480,651	RGD	NCBI36
Celera	7	6,221,034 - 6,221,172	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,386,008 - 6,386,146	UniSTS
CRA_TCAGchr7v2	7	6,560,446 - 6,560,584	UniSTS
GeneMap99-GB4 RH Map	7	40.69	UniSTS

D7S2139E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,500,743 - 6,500,966	UniSTS	GRCh37
Build 36	7	6,467,268 - 6,467,491	RGD	NCBI36
Celera	7	6,234,177 - 6,234,400	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,373,549 - 6,373,772	UniSTS
CRA_TCAGchr7v2	7	6,547,203 - 6,547,426	UniSTS

D7S2873

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,500,776 - 6,500,963	UniSTS	GRCh37
Build 36	7	6,467,301 - 6,467,488	RGD	NCBI36
Celera	7	6,234,180 - 6,234,367	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,373,582 - 6,373,769	UniSTS
CRA_TCAGchr7v2	7	6,547,236 - 6,547,423	UniSTS
Whitehead-YAC Contig Map	7		UniSTS

A002F46

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,501,386 - 6,501,546	UniSTS	GRCh37
Build 36	7	6,467,911 - 6,468,071	RGD	NCBI36
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,374,192 - 6,374,352	UniSTS
CRA_TCAGchr7v2	7	6,547,846 - 6,548,006	UniSTS
GeneMap99-GB4 RH Map	7	42.0	UniSTS
Whitehead-RH Map	7	36.8	UniSTS

D7S2246

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,501,447 - 6,501,597	UniSTS	GRCh37
Build 36	7	6,467,972 - 6,468,122	RGD	NCBI36
Celera	7	6,233,546 - 6,233,696	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,374,253 - 6,374,403	UniSTS
CRA_TCAGchr7v2	7	6,547,907 - 6,548,057	UniSTS
GeneMap99-GB4 RH Map	7	40.69	UniSTS
Whitehead-RH Map	7	37.5	UniSTS
Whitehead-YAC Contig Map	7		UniSTS

RH48479

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,512,865 - 6,512,956	UniSTS	GRCh37
Build 36	7	6,479,390 - 6,479,481	RGD	NCBI36
Celera	7	6,222,204 - 6,222,295	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,384,885 - 6,384,976	UniSTS
CRA_TCAGchr7v2	7	6,559,323 - 6,559,414	UniSTS
GeneMap99-GB4 RH Map	7	40.06	UniSTS
NCBI RH Map	7	133.7	UniSTS

D7S2768

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,502,383 - 6,502,489	UniSTS	GRCh37
Build 36	7	6,468,908 - 6,469,014	RGD	NCBI36
Celera	7	6,232,658 - 6,232,764	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,375,185 - 6,375,291	UniSTS
CRA_TCAGchr7v2	7	6,548,839 - 6,548,945	UniSTS
TNG Radiation Hybrid Map	7	3257.0	UniSTS
Stanford-G3 RH Map	7	261.0	UniSTS
NCBI RH Map	7	149.8	UniSTS
GeneMap99-G3 RH Map	7	261.0	UniSTS

SHGC-55953

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	6,500,742 - 6,500,872	UniSTS	GRCh37
Build 36	7	6,467,267 - 6,467,397	RGD	NCBI36
Celera	7	6,234,271 - 6,234,401	RGD
Cytogenetic Map	7	p22.1	UniSTS
HuRef	7	6,373,548 - 6,373,678	UniSTS
CRA_TCAGchr7v2	7	6,547,202 - 6,547,332	UniSTS
GeneMap99-GB4 RH Map	7	41.79	UniSTS
Whitehead-RH Map	7	37.8	UniSTS

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


RefSeq Transcripts	NM_001100603	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC072052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093917	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124072	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315702	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL547016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AV660600	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC071982	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236963	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH878731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA713413	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M88458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X63745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000258739 ⟹ ENSP00000258739

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	6,461,089 - 6,484,152 (-)	Ensembl

Ensembl Acc Id:

ENST00000382267 ⟹ ENSP00000371702

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	6,469,654 - 6,484,149 (-)	Ensembl

Ensembl Acc Id:

ENST00000454368

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	6,461,762 - 6,470,406 (-)	Ensembl

Ensembl Acc Id:

ENST00000462052

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	6,474,080 - 6,484,143 (-)	Ensembl

Ensembl Acc Id:

ENST00000463747

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	6,445,953 - 6,484,190 (-)	Ensembl

Ensembl Acc Id:

ENST00000490996 ⟹ ENSP00000420501

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	6,462,872 - 6,484,057 (-)	Ensembl

RefSeq Acc Id:

NM_001100603 ⟹ NP_001094073

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	6,461,089 - 6,484,152 (-)	NCBI
GRCh37	7	6,500,712 - 6,523,849 (-)	RGD
Build 36	7	6,467,237 - 6,490,374 (-)	NCBI Archive
Celera	7	6,211,338 - 6,234,431 (+)	RGD
HuRef	7	6,373,518 - 6,395,670 (-)	RGD
CHM1_1	7	6,500,302 - 6,523,431 (-)	NCBI
T2T-CHM13v2.0	7	6,580,398 - 6,603,413 (-)	NCBI
CRA_TCAGchr7v2	7	6,547,172 - 6,570,287 (-)	ENTREZGENE

Sequence:

show sequence

GCCATCTTCGCCGCTTCCTCTCAGGGGCCGCCGCCTCCTGAGCCGCCCAGCCCCGGGGCCGCCGCGCTGCGCCGACCGCCACCGCCGCCGCCGCCATGAACATTTTCCGGCTGACTGGGGACCTGTCC
CACCTGGCGGCCATCGTCATCCTGCTGCTGAAGATCTGGAAGACGCGCTCCTGCGCCGGTATTTCTGGGAAAAGCCAGCTTCTGTTTGCACTGGTCTTCACAACTCGTTACCTGGATCTTTTTACTTC
ATTTATTTCATTGTATAACACATCTATGAAGGTTATCTACCTTGCCTGCTCCTATGCCACAGTGTACCTGATCTACCTGAAATTTAAGGCAACCTACGATGGAAATCATGATACCTTCCGAGTGGAGT
TTCTGGTGGTCCCTGTGGGAGGCCTCTCATTTTTAGTTAATCACGATTTCTCTCCTCTTGAGTACTCAAGGGAAAGAAGCTCAGTTTGCCAGCATAAGTGCCAAAGACCATCACCAGCATCTGTCCTT
CAGGGTGCTCGGACAGAATTCTTACCACAGCAAAGGCATAAGATGCTTGATACGGAAAATCAGAAACTTAACTCTTTTGTTGCAGATAGTCATCAGTGGCTCTGTAAAAACGCAGAGGAAAAGAGCCA
GAAGGTTTCTGTTTAATGCATCTTGCCTTATCTTTTTTTATTACTGTGTACAAAGATTTTTTTACACAAAGAAACTTAATGCTGTATTAATAAATTCAGTGTGTAGCTTCAATTGGGATAGTTCCAAA
AGTGAAGATTTTGTGAGGAATAAGTGCAAATTTTTTTTTTATTTTAAAAAATTCTTTGAAACTCTTAAGTCTTTGTGTCTGCAATGAAATTGTACTCCTTGACAGTTGATAGATTATATATTCTTCCA
TCCCTCAAACTTGCATTCCACTATATTTATTTTTTGGCAAAAGATGAGCTGTATTTGTTTGAAATCTGAGACACTATGTTCAATTGGATGTATCTGTTCAAATTTATTCCCACGTGACGTGGAAGTCC
TTCGTTGGATGTCACAACACTACATTTAAGGTTGGTAAGGATGACTTGGAGGTCCATGGTTTTCATTACCAACATTTTAAGATTCTGAATGTCGATGGAGTCTCACTGAAGAGTCACCAAAGGTGCCT
GCCCTCCTCCCCTGCTGGGAAGTGTCAGTTGGAGACTGTCCCAAGGGTGCTGAAGAATCCAGTGGCAGGGGTTCTGGCTGCTTTCCATCTGAGTGTGGGATGGGAGGGGTGTTCATGATCATTTGGAT
ATAGCAATCTACTCTGAGAAATGGAACACAAGGAGTTACCTATCACTTTCACTTATAATTCCAAAAGATGACTACAACCATGTCCATGCTCAGATTCAAACAGTTTTCCATATCACTTTTGGGTGGTA
AGATGATTTAATTACAGTTTTTTTTTTAATTGGCAGCACCACTAACCATTCCTTACATTCTTTTTTGTATGTGTGGTTTTCTTTTTATTTAACCCGCAGCCGACATCGTAGTTTCTTGTTTTGTTTTG
TTTTACAGAGCTGTTGCATGACTTATGTTACCATCCTAAAAAACACTATATTAAACATGGAATAAATTGTCTTTTTATGAATTAGGCTTTTTGAACATCCTGTGTTGGGATTTTTTTGTTTTTCAATT
GGCAACAAAAGCTCTGTAGGGCTGCAGACATTTAAAGTTCACATAATCATCTGTAAGACATTATGTATTTTGTGGAAATACTAGAATTTTTTTCCTGATTTTGCCATTATATGGATTTGCTATTTTTT
GATTAATGCAAAAGTATATGACTTTGTTTTTTATGTGATACACCATAAATATTAAAGTGTTGAATACTAACAGTGCTGACTACAAGAAGGATGTAGTATTTTGGCTTTCTGCATTACAACGTCTTCTG
GAGGAAGGGAGCAGGATGGGTTTCATTTGTATCTAGTGTGTGTCTTAACATCTTTCTAAATCGGCAGTGTAACTGCATAGTTTAACTTCCTGTCTGTCTCCCTCATTTTACTCTTCCCTCCTTGTCTT
ATGTTTTGGCTTTTGTGTATCAGAGCATCTTTCTTTGCAGCATCCTAGTCTTGCTTCAGTTTCTGTGGTCTCTTTTCATCCTGCTTGAAGATTCGGAGTGTGGAAGGAGGCTAGGAAGTCTGGTGCAG
TAGGTGAGCAGACCTCTTGCTGCCCAGCCCAGGGTGGGTGGGGCGCACACCTGTCTTTGTGCATGCAAATCTGATACACCTGGCGCATCCTCTGGAGAGCACAACGCATGGAAAGGTCTGGAAGCTCT
GTGTAGCCATTCCTTCTGCAGTCATCCTACCCAAGTAAAAGTAACCTTGGCTATGTTACCACCGTTTTGGTCACCCAGGAGGACATCTTAGCAAGGGTGCCTGCGAGGGAGTGTGGGACTGGGCCTCA
TCCTCGCCGGCGTTGGAAACCAAGGCCTTGTATGCCACGCCTTATGAAGCACTGTTTCACAGTTACTTTCACTTCCCGAATAAAGGTTACCAGGTAATTAA

hide sequence

RefSeq Acc Id:

NM_006854 ⟹ NP_006845

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	6,461,089 - 6,484,152 (-)	NCBI
GRCh37	7	6,500,712 - 6,523,849 (-)	RGD
Build 36	7	6,467,237 - 6,490,374 (-)	NCBI Archive
Celera	7	6,211,338 - 6,234,431 (+)	RGD
HuRef	7	6,373,518 - 6,395,670 (-)	RGD
CHM1_1	7	6,500,302 - 6,523,431 (-)	NCBI
T2T-CHM13v2.0	7	6,580,398 - 6,603,413 (-)	NCBI
CRA_TCAGchr7v2	7	6,547,172 - 6,570,287 (-)	ENTREZGENE

Sequence:

show sequence

GCCATCTTCGCCGCTTCCTCTCAGGGGCCGCCGCCTCCTGAGCCGCCCAGCCCCGGGGCCGCCGCGCTGCGCCGACCGCCACCGCCGCCGCCGCCATGAACATTTTCCGGCTGACTGGGGACCTGTCC
CACCTGGCGGCCATCGTCATCCTGCTGCTGAAGATCTGGAAGACGCGCTCCTGCGCCGGTATTTCTGGGAAAAGCCAGCTTCTGTTTGCACTGGTCTTCACAACTCGTTACCTGGATCTTTTTACTTC
ATTTATTTCATTGTATAACACATCTATGAAGGTTATCTACCTTGCCTGCTCCTATGCCACAGTGTACCTGATCTACCTGAAATTTAAGGCAACCTACGATGGAAATCATGATACCTTCCGAGTGGAGT
TTCTGGTGGTCCCTGTGGGAGGCCTCTCATTTTTAGTTAATCACGATTTCTCTCCTCTTGAGATCCTCTGGACCTTCTCCATCTACCTGGAGTCCGTGGCTATCCTTCCGCAGCTATTTATGATCAGC
AAGACTGGGGAGGCCGAGACCATCACCACCCACTACCTGTTCTTCCTGGGCCTCTATCGTGCTTTGTATCTTGTCAACTGGATCTGGCGCTTCTACTTTGAGGGCTTCTTTGACCTCATTGCTGTGGT
GGCCGGCGTAGTCCAGACCATCCTATACTGTGACTTCTTCTACTTGTACATTACAAAAGTACTCAAGGGAAAGAAGCTCAGTTTGCCAGCATAAGTGCCAAAGACCATCACCAGCATCTGTCCTTCAG
GGTGCTCGGACAGAATTCTTACCACAGCAAAGGCATAAGATGCTTGATACGGAAAATCAGAAACTTAACTCTTTTGTTGCAGATAGTCATCAGTGGCTCTGTAAAAACGCAGAGGAAAAGAGCCAGAA
GGTTTCTGTTTAATGCATCTTGCCTTATCTTTTTTTATTACTGTGTACAAAGATTTTTTTACACAAAGAAACTTAATGCTGTATTAATAAATTCAGTGTGTAGCTTCAATTGGGATAGTTCCAAAAGT
GAAGATTTTGTGAGGAATAAGTGCAAATTTTTTTTTTATTTTAAAAAATTCTTTGAAACTCTTAAGTCTTTGTGTCTGCAATGAAATTGTACTCCTTGACAGTTGATAGATTATATATTCTTCCATCC
CTCAAACTTGCATTCCACTATATTTATTTTTTGGCAAAAGATGAGCTGTATTTGTTTGAAATCTGAGACACTATGTTCAATTGGATGTATCTGTTCAAATTTATTCCCACGTGACGTGGAAGTCCTTC
GTTGGATGTCACAACACTACATTTAAGGTTGGTAAGGATGACTTGGAGGTCCATGGTTTTCATTACCAACATTTTAAGATTCTGAATGTCGATGGAGTCTCACTGAAGAGTCACCAAAGGTGCCTGCC
CTCCTCCCCTGCTGGGAAGTGTCAGTTGGAGACTGTCCCAAGGGTGCTGAAGAATCCAGTGGCAGGGGTTCTGGCTGCTTTCCATCTGAGTGTGGGATGGGAGGGGTGTTCATGATCATTTGGATATA
GCAATCTACTCTGAGAAATGGAACACAAGGAGTTACCTATCACTTTCACTTATAATTCCAAAAGATGACTACAACCATGTCCATGCTCAGATTCAAACAGTTTTCCATATCACTTTTGGGTGGTAAGA
TGATTTAATTACAGTTTTTTTTTTAATTGGCAGCACCACTAACCATTCCTTACATTCTTTTTTGTATGTGTGGTTTTCTTTTTATTTAACCCGCAGCCGACATCGTAGTTTCTTGTTTTGTTTTGTTT
TACAGAGCTGTTGCATGACTTATGTTACCATCCTAAAAAACACTATATTAAACATGGAATAAATTGTCTTTTTATGAATTAGGCTTTTTGAACATCCTGTGTTGGGATTTTTTTGTTTTTCAATTGGC
AACAAAAGCTCTGTAGGGCTGCAGACATTTAAAGTTCACATAATCATCTGTAAGACATTATGTATTTTGTGGAAATACTAGAATTTTTTTCCTGATTTTGCCATTATATGGATTTGCTATTTTTTGAT
TAATGCAAAAGTATATGACTTTGTTTTTTATGTGATACACCATAAATATTAAAGTGTTGAATACTAACAGTGCTGACTACAAGAAGGATGTAGTATTTTGGCTTTCTGCATTACAACGTCTTCTGGAG
GAAGGGAGCAGGATGGGTTTCATTTGTATCTAGTGTGTGTCTTAACATCTTTCTAAATCGGCAGTGTAACTGCATAGTTTAACTTCCTGTCTGTCTCCCTCATTTTACTCTTCCCTCCTTGTCTTATG
TTTTGGCTTTTGTGTATCAGAGCATCTTTCTTTGCAGCATCCTAGTCTTGCTTCAGTTTCTGTGGTCTCTTTTCATCCTGCTTGAAGATTCGGAGTGTGGAAGGAGGCTAGGAAGTCTGGTGCAGTAG
GTGAGCAGACCTCTTGCTGCCCAGCCCAGGGTGGGTGGGGCGCACACCTGTCTTTGTGCATGCAAATCTGATACACCTGGCGCATCCTCTGGAGAGCACAACGCATGGAAAGGTCTGGAAGCTCTGTG
TAGCCATTCCTTCTGCAGTCATCCTACCCAAGTAAAAGTAACCTTGGCTATGTTACCACCGTTTTGGTCACCCAGGAGGACATCTTAGCAAGGGTGCCTGCGAGGGAGTGTGGGACTGGGCCTCATCC
TCGCCGGCGTTGGAAACCAAGGCCTTGTATGCCACGCCTTATGAAGCACTGTTTCACAGTTACTTTCACTTCCCGAATAAAGGTTACCAGGTAATTAA

hide sequence


Protein RefSeqs	NP_001094073	(Get FASTA)	NCBI Sequence Viewer
	NP_006845	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH08081	(Get FASTA)	NCBI Sequence Viewer
	AAH12994	(Get FASTA)	NCBI Sequence Viewer
	AAH71982	(Get FASTA)	NCBI Sequence Viewer
	AAS02002	(Get FASTA)	NCBI Sequence Viewer
	BAG38064	(Get FASTA)	NCBI Sequence Viewer
	CAA45277	(Get FASTA)	NCBI Sequence Viewer
	EAL23722	(Get FASTA)	NCBI Sequence Viewer
	EAW55029	(Get FASTA)	NCBI Sequence Viewer
	EAW55030	(Get FASTA)	NCBI Sequence Viewer
	EAW55031	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000258739
	ENSP00000258739.4
	ENSP00000420501
	ENSP00000420501.1
GenBank Protein	P33947	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006845 ⟸ NM_006854
- Peptide Label:	isoform 1
- UniProtKB:	Q6IPC5 (UniProtKB/Swiss-Prot), A4D2P4 (UniProtKB/Swiss-Prot), Q96E30 (UniProtKB/Swiss-Prot), P33947 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVFTTRYLDLFTSFISLYNTSMKVIYLACSYATVYLIYLKFKATYDGNHDTFRVEFLVVPVGGLSFLVNHDFSPLEILWTFSIYLES VAILPQLFMISKTGEAETITTHYLFFLGLYRALYLVNWIWRFYFEGFFDLIAVVAGVVQTILYCDFFYLYITKVLKGKKLSLPA hide sequence

RefSeq Acc Id:	NP_001094073 ⟸ NM_001100603
- Peptide Label:	isoform 2
- UniProtKB:	P33947 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNIFRLTGDLSHLAAIVILLLKIWKTRSCAGISGKSQLLFALVFTTRYLDLFTSFISLYNTSMKVIYLACSYATVYLIYLKFKATYDGNHDTFRVEFLVVPVGGLSFLVNHDFSPLEYSRERSSVCQH KCQRPSPASVLQGARTEFLPQQRHKMLDTENQKLNSFVADSHQWLCKNAEEKSQKVSV hide sequence

Ensembl Acc Id:

ENSP00000420501 ⟸ ENST00000490996

Ensembl Acc Id:

ENSP00000258739 ⟸ ENST00000258739

Ensembl Acc Id:

ENSP00000371702 ⟸ ENST00000382267

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P33947-F1-model_v2	AlphaFold	P33947	1-212	view protein structure

RGD ID:

6805838

Promoter ID:

HG_KWN:56225

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

OTTHUMT00000324384

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	6,476,301 - 6,476,801 (-)	MPROMDB

RGD ID:

6805837

Promoter ID:

HG_KWN:56226

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000324388

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	6,480,336 - 6,480,836 (-)	MPROMDB

RGD ID:

7209897

Promoter ID:

EPDNEW_H10694

Type:

initiation region

Name:

KDELR2_1

Description:

KDEL endoplasmic reticulum protein retention receptor 2

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	6,484,152 - 6,484,212	EPDNEW

RGD ID:

6805445

Promoter ID:

HG_KWN:56227

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_001100603, OTTHUMT00000059424, OTTHUMT00000324385, OTTHUMT00000324386, OTTHUMT00000324387, UC003SQD.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	6,490,076 - 6,490,576 (-)	MPROMDB

RGD ID:

6853018

Promoter ID:

EP74330

Type:

initiation region

Name:

HS_KDELR2

Description:

KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention 2ceptor 2.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	6,490,318 - 6,490,378	EPD

Database	Acc Id	Source(s)
COSMIC	KDELR2	COSMIC
Ensembl Genes	ENSG00000136240	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000258739	ENTREZGENE
	ENST00000258739.9	UniProtKB/Swiss-Prot
	ENST00000490996	ENTREZGENE
	ENST00000490996.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000136240	GTEx
HGNC ID	HGNC:6305	ENTREZGENE
Human Proteome Map	KDELR2	Human Proteome Map
InterPro	ER_ret_rcpt	UniProtKB/Swiss-Prot
KEGG Report	hsa:11014	UniProtKB/Swiss-Prot
NCBI Gene	11014	ENTREZGENE
OMIM	609024	OMIM
PANTHER	PTHR10585	UniProtKB/Swiss-Prot
Pfam	ER_lumen_recept	UniProtKB/Swiss-Prot
PharmGKB	PA30084	PharmGKB
PRINTS	ERLUMENR	UniProtKB/Swiss-Prot
PROSITE	ER_LUMEN_RECEPTOR_1	UniProtKB/Swiss-Prot
	ER_LUMEN_RECEPTOR_2	UniProtKB/Swiss-Prot
UniProt	A4D2P4	ENTREZGENE
	ERD22_HUMAN	UniProtKB/Swiss-Prot
	H7BYF7_HUMAN	UniProtKB/TrEMBL
	P33947	ENTREZGENE
	Q6IPC5	ENTREZGENE
	Q96E30	ENTREZGENE
UniProt Secondary	A4D2P4	UniProtKB/Swiss-Prot
	Q6IPC5	UniProtKB/Swiss-Prot
	Q96E30	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-15	KDELR2	KDEL endoplasmic reticulum protein retention receptor 2	KDELR2	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO