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Gene: UBR3 (ubiquitin protein ligase E3 component n-recognin 3) Homo sapiens

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Symbol:

UBR3

Name:

ubiquitin protein ligase E3 component n-recognin 3

RGD ID:

1346219

HGNC Page

HGNC:30467

Description:

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in several processes, including sensory perception of smell; suckling behavior; and ubiquitin-dependent protein catabolic process via the N-end rule pathway. Predicted to act upstream of or within in utero embryonic development and olfactory behavior. Predicted to be located in membrane. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DKFZp434P117; DKFZp686N10185; E3 ubiquitin-protein ligase UBR3; FLJ37422; KIAA2024; MGC126489; N-recognin-3; RING-type E3 ubiquitin transferase UBR3; ubiquitin protein ligase E3 component n-recognin 3 (putative); ubiquitin-protein ligase E3-alpha-3; ubiquitin-protein ligase E3-alpha-III; zinc finger protein 650; ZNF650

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	2	169,827,454 - 170,084,131 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	169,827,454 - 170,084,131 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	170,683,964 - 170,940,641 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	170,514,548 - 170,648,883 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	170,631,808 - 170,766,144	NCBI
Celera	2	164,300,400 - 164,556,964 (+)	NCBI		Celera
Cytogenetic Map	2	q31.1	NCBI
HuRef	2	162,572,017 - 162,828,315 (+)	NCBI		HuRef
CHM1_1	2	170,689,889 - 170,947,009 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	170,305,020 - 170,561,615 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
UBR3	Human	(-)-epigallocatechin 3-gallate	multiple interactions	EXP		6480464	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of UBR3 mRNA	CTD	PMID:22079256
UBR3	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Ubr3 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of UBR3 mRNA	CTD	PMID:22206623
UBR3	Human	1,2-dimethylhydrazine	decreases expression	ISO	Ubr3 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of UBR3 mRNA	CTD	PMID:22206623
UBR3	Human	17alpha-ethynylestradiol	increases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Ethinyl Estradiol results in increased expression of UBR3 mRNA	CTD	PMID:29097150
UBR3	Human	17beta-estradiol	affects expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Estradiol affects the expression of UBR3 mRNA	CTD	PMID:32145629
UBR3	Human	17beta-estradiol	increases expression	ISO	Ubr3 (Mus musculus)	6480464	Estradiol results in increased expression of UBR3 mRNA	CTD	PMID:39298647
UBR3	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Ubr3 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of UBR3 mRNA	CTD	PMID:21354282
UBR3	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of UBR3 mRNA	CTD	PMID:33387578
UBR3	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of UBR3 mRNA	CTD	PMID:32109520
UBR3	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Ubr3 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of UBR3 mRNA	CTD	PMID:24680724
UBR3	Human	2-palmitoylglycerol	increases expression	EXP		6480464	2-palmitoylglycerol results in increased expression of UBR3 mRNA	CTD	PMID:37199045
UBR3	Human	4,4'-diaminodiphenylmethane	decreases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	4 and 4'-diaminodiphenylmethane results in decreased expression of UBR3 mRNA	CTD	PMID:30723492
UBR3	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Ubr3 (Mus musculus)	6480464	bisphenol S results in increased expression of UBR3 mRNA	CTD	PMID:39298647
UBR3	Human	4,4'-sulfonyldiphenol	multiple interactions	EXP		6480464	[bisphenol S co-treated with Fulvestrant] results in increased methylation of UBR3 gene	CTD	PMID:31601247
UBR3	Human	acrylamide	increases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Acrylamide results in increased expression of UBR3 mRNA	CTD	PMID:28959563
UBR3	Human	aflatoxin B1	decreases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Aflatoxin B1 results in decreased expression of UBR3 mRNA	CTD	PMID:33354967
UBR3	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of UBR3 mRNA	CTD	PMID:33167477
UBR3	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of UBR3 mRNA	CTD	PMID:33212167
UBR3	Human	arsane	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of UBR3 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of UBR3 mRNA	CTD	PMID:39836092
UBR3	Human	arsenic atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of UBR3 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of UBR3 mRNA	CTD	PMID:39836092
UBR3	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:19150397
UBR3	Human	bisphenol A	increases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of UBR3 mRNA	CTD	PMID:25181051 and PMID:29097150
UBR3	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of UBR3 gene	CTD	PMID:31601247
UBR3	Human	bisphenol A	affects expression	ISO	Ubr3 (Rattus norvegicus)	6480464	bisphenol A affects the expression of UBR3 mRNA	CTD	PMID:32145629
UBR3	Human	bisphenol A	decreases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of UBR3 mRNA	CTD	PMID:30816183
UBR3	Human	bortezomib	increases expression	EXP		6480464	Bortezomib results in increased expression of UBR3 mRNA	CTD	PMID:20977926
UBR3	Human	butanal	decreases expression	EXP		6480464	butyraldehyde results in decreased expression of UBR3 mRNA	CTD	PMID:26079696
UBR3	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to UBR3 gene]	CTD	PMID:28238834
UBR3	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in decreased expression of UBR3 mRNA	CTD	PMID:27392435
UBR3	Human	cobalt dichloride	increases expression	EXP		6480464	cobaltous chloride results in increased expression of UBR3 mRNA	CTD	PMID:19320972
UBR3	Human	cobalt dichloride	increases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	cobaltous chloride results in increased expression of UBR3 mRNA	CTD	PMID:24386269
UBR3	Human	Cuprizon	decreases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Cuprizone results in decreased expression of UBR3 mRNA	CTD	PMID:26577399
UBR3	Human	Cuprizon	affects expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Cuprizone affects the expression of UBR3 mRNA	CTD	PMID:27523638
UBR3	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of UBR3 mRNA	CTD	PMID:37042841
UBR3	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of UBR3 mRNA	CTD	PMID:28302478
UBR3	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of UBR3 mRNA	CTD	PMID:29803840
UBR3	Human	endosulfan	decreases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Endosulfan results in decreased expression of UBR3 mRNA	CTD	PMID:29391264
UBR3	Human	ethanol	affects splicing	ISO	Ubr3 (Mus musculus)	6480464	Ethanol affects the splicing of UBR3 mRNA	CTD	PMID:30319688
UBR3	Human	folic acid	multiple interactions	ISO	Ubr3 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of UBR3 mRNA	CTD	PMID:22206623
UBR3	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol S co-treated with Fulvestrant] results in increased methylation of UBR3 gene	CTD	PMID:31601247
UBR3	Human	glafenine	decreases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Glafenine results in decreased expression of UBR3 mRNA	CTD	PMID:24136188
UBR3	Human	hydrogen peroxide	multiple interactions	EXP		6480464	[Hydrogen Peroxide co-treated with Theophylline] results in increased expression of UBR3 protein	CTD	PMID:18951874
UBR3	Human	maneb	multiple interactions	ISO	Ubr3 (Mus musculus)	6480464	[Maneb co-treated with Paraquat] results in decreased expression of UBR3 mRNA	CTD	PMID:36117858
UBR3	Human	manganese atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of UBR3 mRNA	CTD	PMID:39836092
UBR3	Human	manganese(0)	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of UBR3 mRNA	CTD	PMID:39836092
UBR3	Human	manganese(II) chloride	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of UBR3 mRNA	CTD	PMID:39836092
UBR3	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of UBR3 mRNA	CTD	PMID:23649840
UBR3	Human	N,N-diethyl-m-toluamide	multiple interactions	ISO	Ubr3 (Rattus norvegicus)	6480464	[Permethrin co-treated with DEET] results in increased methylation of UBR3 gene	CTD	PMID:33148267
UBR3	Human	ozone	multiple interactions	EXP		6480464	[Air Pollutants results in increased abundance of Ozone] which affects the expression of UBR3 mRNA	CTD	PMID:35430440
UBR3	Human	paracetamol	affects expression	ISO	Ubr3 (Mus musculus)	6480464	Acetaminophen affects the expression of UBR3 mRNA	CTD	PMID:17562736
UBR3	Human	paraquat	multiple interactions	ISO	Ubr3 (Mus musculus)	6480464	[Maneb co-treated with Paraquat] results in decreased expression of UBR3 mRNA	CTD	PMID:36117858
UBR3	Human	pentachlorophenol	increases expression	ISO	Ubr3 (Mus musculus)	6480464	Pentachlorophenol results in increased expression of UBR3 mRNA	CTD	PMID:23892564
UBR3	Human	permethrin	multiple interactions	ISO	Ubr3 (Rattus norvegicus)	6480464	[Permethrin co-treated with DEET] results in increased methylation of UBR3 gene	CTD	PMID:33148267
UBR3	Human	potassium chromate	decreases expression	EXP		6480464	potassium chromate(VI) results in decreased expression of UBR3 mRNA	CTD	PMID:22079256
UBR3	Human	potassium chromate	multiple interactions	EXP		6480464	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of UBR3 mRNA	CTD	PMID:22079256
UBR3	Human	silicon dioxide	decreases expression	ISO	Ubr3 (Mus musculus)	6480464	Silicon Dioxide results in decreased expression of UBR3 mRNA	CTD	PMID:19073995
UBR3	Human	sodium arsenate	increases expression	ISO	Ubr3 (Mus musculus)	6480464	sodium arsenate results in increased expression of UBR3 mRNA	CTD	PMID:21795629
UBR3	Human	sodium arsenite	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of UBR3 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of UBR3 mRNA	CTD	PMID:39836092
UBR3	Human	sodium arsenite	increases expression	ISO	Ubr3 (Mus musculus)	6480464	sodium arsenite results in increased expression of UBR3 mRNA	CTD	PMID:36209798
UBR3	Human	succimer	multiple interactions	ISO	Ubr3 (Mus musculus)	6480464	[Succimer binds to Magnetite Nanoparticles] which results in decreased expression of UBR3 mRNA and [Succimer co-treated with Magnetite Nanoparticles] results in decreased expression of UBR3 mRNA	CTD	PMID:21641980 and PMID:26378955
UBR3	Human	testosterone	decreases expression	EXP		6480464	Testosterone results in decreased expression of UBR3 mRNA	CTD	PMID:33359661
UBR3	Human	thapsigargin	increases expression	ISO	Ubr3 (Mus musculus)	6480464	Thapsigargin results in increased expression of UBR3 protein	CTD	PMID:24648495
UBR3	Human	theophylline	multiple interactions	EXP		6480464	[Hydrogen Peroxide co-treated with Theophylline] results in increased expression of UBR3 protein	CTD	PMID:18951874
UBR3	Human	titanium dioxide	decreases methylation	ISO	Ubr3 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of UBR3 gene	CTD	PMID:35295148
UBR3	Human	titanium dioxide	increases methylation	ISO	Ubr3 (Mus musculus)	6480464	titanium dioxide results in increased methylation of UBR3 gene	CTD	PMID:35295148
UBR3	Human	topotecan	decreases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	Topotecan results in decreased expression of UBR3 mRNA	CTD	PMID:25729387
UBR3	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of UBR3 mRNA	CTD	PMID:37042841
UBR3	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of UBR3 mRNA	CTD	PMID:28818685
UBR3	Human	valdecoxib	increases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	valdecoxib results in increased expression of UBR3 mRNA	CTD	PMID:24136188
UBR3	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of UBR3 gene	CTD	PMID:29154799
UBR3	Human	valproic acid	affects splicing	ISO	Ubr3 (Rattus norvegicus)	6480464	Valproic Acid affects the splicing of UBR3 mRNA	CTD	PMID:29427782
UBR3	Human	vinclozolin	increases expression	ISO	Ubr3 (Rattus norvegicus)	6480464	vinclozolin results in increased expression of UBR3 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)
UBR3	Human	embryo development ending in birth or egg hatching	involved_in	IEA	UniProtKB:Q5U430 and ensembl:ENSMUSP00000060159	150520179		Ensembl	GO_REF:0000107
UBR3	Human	embryo development ending in birth or egg hatching	involved_in	ISS	UniProtKB:Q5U430	150520179		UniProt	GO_REF:0000024
UBR3	Human	in utero embryonic development	acts_upstream_of_or_within	IEA	UniProtKB:Q5U430 and ensembl:ENSMUSP00000060159	150520179		Ensembl	GO_REF:0000107
UBR3	Human	negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel		ISO	Ubr3 (Rattus norvegicus)	9068941		RGD	PMID:32988261 and REF_RGD_ID:152176655
UBR3	Human	negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	involved_in	IEA	UniProtKB:D4A7F0 and ensembl:ENSRNOP00000011380	150520179		Ensembl	GO_REF:0000107
UBR3	Human	olfactory behavior	acts_upstream_of_or_within	IEA	UniProtKB:Q5U430 and ensembl:ENSMUSP00000060159	150520179		Ensembl	GO_REF:0000107
UBR3	Human	positive regulation of protein catabolic process		ISO	Ubr3 (Rattus norvegicus)	9068941		RGD	PMID:32988261 and REF_RGD_ID:152176655
UBR3	Human	positive regulation of protein catabolic process	involved_in	IEA	UniProtKB:D4A7F0 and ensembl:ENSRNOP00000011380	150520179		Ensembl	GO_REF:0000107
UBR3	Human	proteasome-mediated ubiquitin-dependent protein catabolic process	involved_in	IEA	ARBA:ARBA00026940	150520179		UniProt	GO_REF:0000117
UBR3	Human	protein ubiquitination	involved_in	IEA	UniPathway:UPA00143	150520179		UniProt	GO_REF:0000041
UBR3	Human	protein ubiquitination	involved_in	IBA	FB:FBgn0260970 more ...	150520179		GO_Central	GO_REF:0000033
UBR3	Human	protein ubiquitination	involved_in	IEA	UniRule:UR001116780	150520179		UniProt	GO_REF:0000104
UBR3	Human	sensory perception of smell	involved_in	IEA	UniProtKB:Q5U430 and ensembl:ENSMUSP00000060159	150520179		Ensembl	GO_REF:0000107
UBR3	Human	sensory perception of smell	involved_in	ISS	UniProtKB:Q5U430	150520179		UniProt	GO_REF:0000024
UBR3	Human	suckling behavior	involved_in	ISS	UniProtKB:Q5U430	150520179		UniProt	GO_REF:0000024
UBR3	Human	suckling behavior	acts_upstream_of_or_within	IEA	UniProtKB:Q5U430 and ensembl:ENSMUSP00000060159	150520179		Ensembl	GO_REF:0000107
UBR3	Human	ubiquitin-dependent protein catabolic process	involved_in	IEA	UniProtKB:Q5U430 and ensembl:ENSMUSP00000060159	150520179		Ensembl	GO_REF:0000107
UBR3	Human	ubiquitin-dependent protein catabolic process	involved_in	ISS	UniProtKB:Q5U430	150520179		UniProt	GO_REF:0000024
UBR3	Human	ubiquitin-dependent protein catabolic process via the N-end rule pathway	involved_in	IBA	MGI:1277977 more ...	150520179		GO_Central	GO_REF:0000033
UBR3	Human	ubiquitin-dependent protein catabolic process via the N-end rule pathway	involved_in	IEA	UniRule:UR001116780	150520179		UniProt	GO_REF:0000104
UBR3	Human	ubiquitin-dependent protein catabolic process via the N-end rule pathway	involved_in	IEA	InterPro:IPR039164	150520179		InterPro	GO_REF:0000002

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)
UBR3	Human	cytoplasm	is_active_in	IBA	FB:FBgn0260970 more ...	150520179		GO_Central	GO_REF:0000033
UBR3	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
UBR3	Human	membrane	located_in	IEA	UniProtKB-SubCell:SL-0162	150520179		UniProt	GO_REF:0000044
UBR3	Human	ubiquitin ligase complex	part_of	IBA	MGI:1277977 more ...	150520179		GO_Central	GO_REF:0000033

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)
UBR3	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
UBR3	Human	protein binding	enables	ISO	PR:P63147 and PR:Q9Z255	9068941	PMID:17462990	MGI	PMID:17462990
UBR3	Human	transferase activity	enables	IEA	UniProtKB-KW:KW-0808	150520179		UniProt	GO_REF:0000043
UBR3	Human	ubiquitin protein ligase activity	enables	IEA	UniProtKB:Q5U430 and ensembl:ENSMUSP00000060159	150520179		Ensembl	GO_REF:0000107
UBR3	Human	ubiquitin protein ligase activity	enables	IBA	FB:FBgn0260970 more ...	150520179		GO_Central	GO_REF:0000033
UBR3	Human	ubiquitin protein ligase activity	enables	IEA	ARBA:ARBA00028366	150520179		UniProt	GO_REF:0000117
UBR3	Human	ubiquitin protein ligase activity	enables	IEA	UniRule:UR001116780	150520179		UniProt	GO_REF:0000104
UBR3	Human	ubiquitin protein ligase activity	enables	IEA	InterPro:IPR039164	150520179		InterPro	GO_REF:0000002
UBR3	Human	ubiquitin-protein transferase activity	enables	IEA	UniProtKB:Q5U430 and ensembl:ENSMUSP00000060159	150520179		Ensembl	GO_REF:0000107
UBR3	Human	ubiquitin-protein transferase activity	enables	ISS	UniProtKB:Q5U430	150520179		UniProt	GO_REF:0000024
UBR3	Human	zinc ion binding	enables	IEA	UniRule:UR001116780	150520179		UniProt	GO_REF:0000104
UBR3	Human	zinc ion binding	enables	IEA	InterPro:IPR003126	150520179		InterPro	GO_REF:0000002
UBR3	Human	zinc ion binding	enables	IEA	UniProtKB-KW:KW-0863	150520179		UniProt	GO_REF:0000043

#	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

PMID:8889548	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15815621	PMID:16344560	PMID:17360488	PMID:17462990	PMID:17855541	PMID:19549727	PMID:19910543	PMID:21816346
PMID:21873635	PMID:21933813	PMID:22493164	PMID:24981174	PMID:25582440	PMID:25590999	PMID:26059563	PMID:26186194	PMID:26472337	PMID:26618866	PMID:27880917	PMID:28514442
PMID:29449217	PMID:29507755	PMID:29643511	PMID:33961781	PMID:35332432	PMID:35944360	PMID:36215168	PMID:37071682	PMID:37848033	PMID:37958966

UBR3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	169,827,454 - 170,084,131 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	169,827,454 - 170,084,131 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	170,683,964 - 170,940,641 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	170,514,548 - 170,648,883 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	170,631,808 - 170,766,144	NCBI
Celera	2	164,300,400 - 164,556,964 (+)	NCBI		Celera
Cytogenetic Map	2	q31.1	NCBI
HuRef	2	162,572,017 - 162,828,315 (+)	NCBI		HuRef
CHM1_1	2	170,689,889 - 170,947,009 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	170,305,020 - 170,561,615 (+)	NCBI		T2T-CHM13v2.0

Ubr3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	69,727,276 - 69,854,354 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	69,727,590 - 69,854,357 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	69,896,932 - 70,024,010 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	69,897,246 - 70,024,013 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	69,735,303 - 69,862,070 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	69,771,018 - 69,825,433 (+)	NCBI		MGSCv36	mm8
Celera	2	71,566,709 - 71,692,184 (+)	NCBI		Celera
Cytogenetic Map	2	C2	NCBI
cM Map	2	40.95	NCBI

Ubr3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	75,057,615 - 75,214,581 (+)	NCBI		GRCr8
mRatBN7.2	3	54,649,803 - 54,806,779 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	54,649,992 - 54,806,247 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	58,051,353 - 58,209,059 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	66,634,951 - 66,792,643 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	64,397,333 - 64,555,042 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	56,125,927 - 56,283,908 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	56,125,924 - 56,281,055 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	62,759,246 - 62,916,651 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	52,034,539 - 52,191,936 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	3	54,209,320 - 54,366,038 (+)	NCBI		Celera
Cytogenetic Map	3	q21-q22	NCBI

Ubr3
(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_004955449	4,585,494 - 4,773,413 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955449	4,583,114 - 4,773,474 (-)	NCBI	ChiLan1.0	ChiLan1.0

UBR3
(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	13	72,488,392 - 72,756,599 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2B	72,503,370 - 72,770,358 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	57,099,882 - 57,366,981 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2B	174,564,607 - 174,827,776 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2B	174,564,671 - 174,827,776 (+)	Ensembl	panpan1.1		panPan2

UBR3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	36	14,537,900 - 14,723,942 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	36	14,537,921 - 14,721,790 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	36	14,510,717 - 14,734,913 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	36	14,617,883 - 14,845,639 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	36	14,617,571 - 14,844,702 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	36	14,700,805 - 14,925,261 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	36	14,693,007 - 14,919,031 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	36	14,804,822 - 15,030,558 (+)	NCBI		UU_Cfam_GSD_1.0

Ubr3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405303	131,771,374 - 131,983,529 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936509	324,953 - 535,141 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936509	325,277 - 537,423 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

UBR3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	76,135,494 - 76,360,823 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	15	76,135,456 - 76,360,819 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	85,315,347 - 85,541,476 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

UBR3
(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	10	55,354,367 - 55,616,810 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	10	55,354,365 - 55,614,520 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	143,913,482 - 144,182,024 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ubr3
(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_004624787	7,358,441 - 7,608,483 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624787	7,358,426 - 7,610,872 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in UBR3
110 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	copy number loss	See cases [RCV000051201]	Chr2:164850117..175559190 [GRCh38] Chr2:165706627..176423918 [GRCh37] Chr2:165414873..176132164 [NCBI36] Chr2:2q24.3-31.1	pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	copy number loss	See cases [RCV000054122]	Chr2:163965382..182195062 [GRCh38] Chr2:164821892..183059789 [GRCh37] Chr2:164530138..182768034 [NCBI36] Chr2:2q24.3-32.1	pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	copy number loss	See cases [RCV000054123]	Chr2:164066038..172097886 [GRCh38] Chr2:164922548..172962614 [GRCh37] Chr2:164630794..172670860 [NCBI36] Chr2:2q24.3-31.1	pathogenic
GRCh38/hg38 2q31.1(chr2:169788598-169877259)x3	copy number gain	See cases [RCV000140118]	Chr2:169788598..169877259 [GRCh38] Chr2:170645108..170733769 [GRCh37] Chr2:170353354..170442015 [NCBI36] Chr2:2q31.1	likely benign
GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	copy number loss	See cases [RCV000139461]	Chr2:168884350..169959279 [GRCh38] Chr2:169740860..170815789 [GRCh37] Chr2:169449106..170524035 [NCBI36] Chr2:2q24.3-31.1	uncertain significance
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	copy number gain	See cases [RCV000142286]	Chr2:154294042..175989372 [GRCh38] Chr2:155150555..176854100 [GRCh37] Chr2:154858801..176562346 [NCBI36] Chr2:2q24.1-31.1	pathogenic
NM_172070.3(UBR3):c.4588C>T (p.Pro1530Ser)	single nucleotide variant	Malignant melanoma [RCV000065199]	Chr2:170040913 [GRCh38] Chr2:170897423 [GRCh37] Chr2:170605669 [NCBI36] Chr2:2q31.1	not provided
GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1	copy number loss	See cases [RCV000137054]	Chr2:169206895..170039471 [GRCh38] Chr2:170063405..170895981 [GRCh37] Chr2:169771651..170604227 [NCBI36] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.913C>G (p.Leu305Val)	single nucleotide variant	not provided [RCV000585366]	Chr2:169877562 [GRCh38] Chr2:170734072 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2132C>G (p.Pro711Arg)	single nucleotide variant	not specified [RCV004308874]	Chr2:169925728 [GRCh38] Chr2:170782238 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_172070.4(UBR3):c.4679T>C (p.Val1560Ala)	single nucleotide variant	not specified [RCV004321535]	Chr2:170055478 [GRCh38] Chr2:170911988 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q31.1(chr2:169727951-170825165)x1	copy number loss	See cases [RCV000512416]	Chr2:169727951..170825165 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	copy number gain	See cases [RCV000239848]	Chr2:156489430..182921298 [GRCh37] Chr2:2q24.1-31.3	pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3	copy number gain	See cases [RCV000448271]	Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_172070.4(UBR3):c.1153C>A (p.Leu385Ile)	single nucleotide variant	not specified [RCV004308979]	Chr2:169895228 [GRCh38] Chr2:170751738 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4499T>C (p.Ile1500Thr)	single nucleotide variant	not specified [RCV004305328]	Chr2:170029391 [GRCh38] Chr2:170885901 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4323G>A (p.Pro1441=)	single nucleotide variant	not provided [RCV000905580]	Chr2:170008896 [GRCh38] Chr2:170865406 [GRCh37] Chr2:2q31.1	benign\|likely benign
NM_172070.4(UBR3):c.5023G>C (p.Glu1675Gln)	single nucleotide variant	not provided [RCV000845073]	Chr2:170073431 [GRCh38] Chr2:170929941 [GRCh37] Chr2:2q31.1	not provided
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	copy number gain	not provided [RCV001005349]	Chr2:163233162..211927188 [GRCh37] Chr2:2q24.2-34	pathogenic
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	copy number loss	2q24 microdeletion syndrome [RCV001263223]	Chr2:163078055..182119617 [GRCh37] Chr2:2q24.2-31.3	pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	copy number gain	not specified [RCV002053265]	Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35	pathogenic
NM_172070.4(UBR3):c.1507G>A (p.Ala503Thr)	single nucleotide variant	not specified [RCV004241053]	Chr2:169905155 [GRCh38] Chr2:170761665 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3799C>T (p.Arg1267Cys)	single nucleotide variant	not specified [RCV004108358]	Chr2:169994337 [GRCh38] Chr2:170850847 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4673G>T (p.Cys1558Phe)	single nucleotide variant	not specified [RCV004133131]	Chr2:170055472 [GRCh38] Chr2:170911982 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3	copy number gain	not provided [RCV000740654]	Chr2:152409978..179325736 [GRCh37] Chr2:2q23.3-31.2	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	copy number loss	not provided [RCV000848216]	Chr2:167329586..192756373 [GRCh37] Chr2:2q24.3-32.3	pathogenic
GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	copy number loss	2q24 microdeletion syndrome [RCV002271993]	Chr2:160347642..174075851 [GRCh37] Chr2:2q24.2-31.1	pathogenic
NM_172070.4(UBR3):c.3548G>A (p.Arg1183Gln)	single nucleotide variant	not specified [RCV004096568]	Chr2:169958440 [GRCh38] Chr2:170814950 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.92C>T (p.Thr31Ile)	single nucleotide variant	not specified [RCV004151376]	Chr2:169827599 [GRCh38] Chr2:170684109 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4781A>G (p.Lys1594Arg)	single nucleotide variant	not specified [RCV004191747]	Chr2:170055580 [GRCh38] Chr2:170912090 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4767C>G (p.His1589Gln)	single nucleotide variant	not specified [RCV004169764]	Chr2:170055566 [GRCh38] Chr2:170912076 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.542G>A (p.Ser181Asn)	single nucleotide variant	not specified [RCV004088183]	Chr2:169828049 [GRCh38] Chr2:170684559 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.612G>C (p.Met204Ile)	single nucleotide variant	not specified [RCV004216360]	Chr2:169872302 [GRCh38] Chr2:170728812 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.970A>C (p.Ser324Arg)	single nucleotide variant	not specified [RCV004162744]	Chr2:169877619 [GRCh38] Chr2:170734129 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2257C>T (p.Leu753Phe)	single nucleotide variant	not specified [RCV004147801]	Chr2:169926890 [GRCh38] Chr2:170783400 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3377A>G (p.Tyr1126Cys)	single nucleotide variant	not specified [RCV004078734]	Chr2:169949897 [GRCh38] Chr2:170806407 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.5035T>C (p.Ser1679Pro)	single nucleotide variant	not specified [RCV004149387]	Chr2:170073443 [GRCh38] Chr2:170929953 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2741A>T (p.Lys914Ile)	single nucleotide variant	not specified [RCV004259212]	Chr2:169942570 [GRCh38] Chr2:170799080 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.580A>G (p.Asn194Asp)	single nucleotide variant	not specified [RCV004276794]	Chr2:169872270 [GRCh38] Chr2:170728780 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.999C>T (p.Gly333=)	single nucleotide variant	not provided [RCV003436243]	Chr2:169878535 [GRCh38] Chr2:170735045 [GRCh37] Chr2:2q31.1	benign
NM_172070.4(UBR3):c.1626C>T (p.Asn542=)	single nucleotide variant	not provided [RCV003436244]	Chr2:169905274 [GRCh38] Chr2:170761784 [GRCh37] Chr2:2q31.1	benign
NM_172070.4(UBR3):c.1276A>G (p.Ile426Val)	single nucleotide variant	not provided [RCV003491820]	Chr2:169896546 [GRCh38] Chr2:170753056 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2743G>C (p.Gly915Arg)	single nucleotide variant	not provided [RCV003491821]	Chr2:169942572 [GRCh38] Chr2:170799082 [GRCh37] Chr2:2q31.1	uncertain significance
GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	copy number loss	not specified [RCV003986346]	Chr2:162692199..174452488 [GRCh37] Chr2:2q24.2-31.1	pathogenic
NM_172070.4(UBR3):c.3451C>T (p.Arg1151Cys)	single nucleotide variant	UBR3-related disorder [RCV003944455]	Chr2:169949971 [GRCh38] Chr2:170806481 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.4923C>G (p.Ser1641=)	single nucleotide variant	UBR3-related disorder [RCV003972258]	Chr2:170061347 [GRCh38] Chr2:170917857 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.4704C>T (p.Tyr1568=)	single nucleotide variant	UBR3-related disorder [RCV003979467]	Chr2:170055503 [GRCh38] Chr2:170912013 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.1996C>T (p.Leu666=)	single nucleotide variant	UBR3-related disorder [RCV003964490]	Chr2:169924147 [GRCh38] Chr2:170780657 [GRCh37] Chr2:2q31.1	benign
NM_172070.4(UBR3):c.545+10G>A	single nucleotide variant	UBR3-related disorder [RCV003904115]	Chr2:169828062 [GRCh38] Chr2:170684572 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.5410-3dup	duplication	UBR3-related disorder [RCV003958903]	Chr2:170080536..170080537 [GRCh38] Chr2:170937046..170937047 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.4893+4T>A	single nucleotide variant	UBR3-related disorder [RCV003956887]	Chr2:170061190 [GRCh38] Chr2:170917700 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.2113T>A (p.Cys705Ser)	single nucleotide variant	not specified [RCV004687931]	Chr2:169925709 [GRCh38] Chr2:170782219 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4660+1G>A	single nucleotide variant	UBR3-related disorder [RCV004732148]	Chr2:170040986 [GRCh38] Chr2:170897496 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3481A>C (p.Thr1161Pro)	single nucleotide variant	not specified [RCV004883890]	Chr2:169950001 [GRCh38] Chr2:170806511 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.5587A>G (p.Lys1863Glu)	single nucleotide variant	not specified [RCV004883891]	Chr2:170081763 [GRCh38] Chr2:170938273 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.32G>A (p.Gly11Asp)	single nucleotide variant	not specified [RCV004883892]	Chr2:169827539 [GRCh38] Chr2:170684049 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.562C>A (p.Gln188Lys)	single nucleotide variant	not specified [RCV004883893]	Chr2:169872252 [GRCh38] Chr2:170728762 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3265A>G (p.Ile1089Val)	single nucleotide variant	not specified [RCV004883894]	Chr2:169949785 [GRCh38] Chr2:170806295 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.463A>G (p.Thr155Ala)	single nucleotide variant	not specified [RCV004883888]	Chr2:169827970 [GRCh38] Chr2:170684480 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4478T>C (p.Leu1493Ser)	single nucleotide variant	not specified [RCV004883878]	Chr2:170029370 [GRCh38] Chr2:170885880 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4428C>A (p.Ser1476Arg)	single nucleotide variant	not specified [RCV004883884]	Chr2:170015341 [GRCh38] Chr2:170871851 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3410G>T (p.Arg1137Ile)	single nucleotide variant	not specified [RCV004210642]	Chr2:169949930 [GRCh38] Chr2:170806440 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4624A>C (p.Ile1542Leu)	single nucleotide variant	not specified [RCV004096569]	Chr2:170040949 [GRCh38] Chr2:170897459 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.622T>C (p.Phe208Leu)	single nucleotide variant	not specified [RCV004175003]	Chr2:169872312 [GRCh38] Chr2:170728822 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3154C>T (p.Arg1052Cys)	single nucleotide variant	not specified [RCV004234959]	Chr2:169949674 [GRCh38] Chr2:170806184 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.1358A>G (p.Asn453Ser)	single nucleotide variant	not specified [RCV004083886]	Chr2:169896628 [GRCh38] Chr2:170753138 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.704A>G (p.Glu235Gly)	single nucleotide variant	not specified [RCV004143887]	Chr2:169875809 [GRCh38] Chr2:170732319 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.826T>C (p.Tyr276His)	single nucleotide variant	not specified [RCV004086183]	Chr2:169875931 [GRCh38] Chr2:170732441 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3403G>A (p.Val1135Met)	single nucleotide variant	not specified [RCV004182927]	Chr2:169949923 [GRCh38] Chr2:170806433 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.26T>G (p.Val9Gly)	single nucleotide variant	not specified [RCV004093742]	Chr2:169827533 [GRCh38] Chr2:170684043 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4309T>C (p.Tyr1437His)	single nucleotide variant	not specified [RCV004278660]	Chr2:170008882 [GRCh38] Chr2:170865392 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3028G>C (p.Glu1010Gln)	single nucleotide variant	not specified [RCV004265663]	Chr2:169947659 [GRCh38] Chr2:170804169 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2890G>A (p.Glu964Lys)	single nucleotide variant	not specified [RCV004281026]	Chr2:169946372 [GRCh38] Chr2:170802882 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.5069C>T (p.Thr1690Met)	single nucleotide variant	not specified [RCV004346185]	Chr2:170073477 [GRCh38] Chr2:170929987 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4202A>C (p.Glu1401Ala)	single nucleotide variant	not specified [RCV004357463]	Chr2:170007162 [GRCh38] Chr2:170863672 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2909A>C (p.Glu970Ala)	single nucleotide variant	not specified [RCV004344270]	Chr2:169946391 [GRCh38] Chr2:170802901 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.407G>A (p.Cys136Tyr)	single nucleotide variant	UBR3-related disorder [RCV003391453]	Chr2:169827914 [GRCh38] Chr2:170684424 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.613_614del (p.Met205fs)	deletion	UBR3-related disorder [RCV003416943]	Chr2:169872303..169872304 [GRCh38] Chr2:170728813..170728814 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2151+4_2151+5insAT	insertion	UBR3-related disorder [RCV003939307]	Chr2:169925751..169925752 [GRCh38] Chr2:170782261..170782262 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.1530C>T (p.Tyr510=)	single nucleotide variant	UBR3-related disorder [RCV003941599]	Chr2:169905178 [GRCh38] Chr2:170761688 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.2655T>C (p.Tyr885=)	single nucleotide variant	UBR3-related disorder [RCV003941615]	Chr2:169933000 [GRCh38] Chr2:170789510 [GRCh37] Chr2:2q31.1	benign
NM_172070.4(UBR3):c.4845A>G (p.Leu1615=)	single nucleotide variant	UBR3-related disorder [RCV003982497]	Chr2:170061138 [GRCh38] Chr2:170917648 [GRCh37] Chr2:2q31.1	benign
NM_172070.4(UBR3):c.1353C>T (p.Phe451=)	single nucleotide variant	UBR3-related disorder [RCV003959394]	Chr2:169896623 [GRCh38] Chr2:170753133 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.640A>G (p.Ile214Val)	single nucleotide variant	UBR3-related disorder [RCV003981388]	Chr2:169872330 [GRCh38] Chr2:170728840 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.3067A>G (p.Asn1023Asp)	single nucleotide variant	UBR3-related disorder [RCV003934665]	Chr2:169947698 [GRCh38] Chr2:170804208 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.423C>T (p.Cys141=)	single nucleotide variant	UBR3-related disorder [RCV003909352]	Chr2:169827930 [GRCh38] Chr2:170684440 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.3702T>C (p.Tyr1234=)	single nucleotide variant	UBR3-related disorder [RCV003934316]	Chr2:169986712 [GRCh38] Chr2:170843222 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.1671A>T (p.Leu557=)	single nucleotide variant	UBR3-related disorder [RCV003982504]	Chr2:169906056 [GRCh38] Chr2:170762566 [GRCh37] Chr2:2q31.1	benign
NM_172070.4(UBR3):c.255G>A (p.Ala85=)	single nucleotide variant	UBR3-related disorder [RCV003969828]	Chr2:169827762 [GRCh38] Chr2:170684272 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.1003A>G (p.Thr335Ala)	single nucleotide variant	not specified [RCV004477107]	Chr2:169878539 [GRCh38] Chr2:170735049 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.1036G>A (p.Glu346Lys)	single nucleotide variant	not specified [RCV004477108]	Chr2:169878572 [GRCh38] Chr2:170735082 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.1449T>G (p.Ile483Met)	single nucleotide variant	not specified [RCV004477109]	Chr2:169896719 [GRCh38] Chr2:170753229 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.184G>A (p.Glu62Lys)	single nucleotide variant	not specified [RCV004477110]	Chr2:169827691 [GRCh38] Chr2:170684201 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.19G>C (p.Ala7Pro)	single nucleotide variant	not specified [RCV004477111]	Chr2:169827526 [GRCh38] Chr2:170684036 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2089A>G (p.Met697Val)	single nucleotide variant	not specified [RCV004477112]	Chr2:169925685 [GRCh38] Chr2:170782195 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2189C>T (p.Ser730Leu)	single nucleotide variant	not specified [RCV004477113]	Chr2:169926729 [GRCh38] Chr2:170783239 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2483C>T (p.Ser828Leu)	single nucleotide variant	not specified [RCV004477114]	Chr2:169928785 [GRCh38] Chr2:170785295 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2782G>A (p.Val928Met)	single nucleotide variant	not specified [RCV004477115]	Chr2:169942611 [GRCh38] Chr2:170799121 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2893G>A (p.Glu965Lys)	single nucleotide variant	not specified [RCV004477116]	Chr2:169946375 [GRCh38] Chr2:170802885 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3018G>C (p.Glu1006Asp)	single nucleotide variant	not specified [RCV004477117]	Chr2:169947649 [GRCh38] Chr2:170804159 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3155G>A (p.Arg1052His)	single nucleotide variant	not specified [RCV004477119]	Chr2:169949675 [GRCh38] Chr2:170806185 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3515C>T (p.Ala1172Val)	single nucleotide variant	not specified [RCV004477120]	Chr2:169950035 [GRCh38] Chr2:170806545 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3749C>T (p.Pro1250Leu)	single nucleotide variant	not specified [RCV004477121]	Chr2:169986759 [GRCh38] Chr2:170843269 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4337A>G (p.Asn1446Ser)	single nucleotide variant	not specified [RCV004477123]	Chr2:170008910 [GRCh38] Chr2:170865420 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.885G>C (p.Lys295Asn)	single nucleotide variant	not specified [RCV004477124]	Chr2:169877534 [GRCh38] Chr2:170734044 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.943G>A (p.Gly315Ser)	single nucleotide variant	not specified [RCV004477125]	Chr2:169877592 [GRCh38] Chr2:170734102 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3152A>G (p.Asn1051Ser)	single nucleotide variant	not specified [RCV004677892]	Chr2:169949672 [GRCh38] Chr2:170806182 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3342C>G (p.Asp1114Glu)	single nucleotide variant	not specified [RCV004677893]	Chr2:169949862 [GRCh38] Chr2:170806372 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.707A>T (p.Lys236Met)	single nucleotide variant	not specified [RCV004677891]	Chr2:169875812 [GRCh38] Chr2:170732322 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2981G>A (p.Arg994Gln)	single nucleotide variant	not specified [RCV004677894]	Chr2:169947612 [GRCh38] Chr2:170804122 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.1016G>T (p.Gly339Val)	single nucleotide variant	not specified [RCV004883885]	Chr2:169878552 [GRCh38] Chr2:170735062 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.238G>T (p.Gly80Trp)	single nucleotide variant	not specified [RCV004883886]	Chr2:169827745 [GRCh38] Chr2:170684255 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4626C>G (p.Ile1542Met)	single nucleotide variant	not specified [RCV004883889]	Chr2:170040951 [GRCh38] Chr2:170897461 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.1010C>G (p.Thr337Ser)	single nucleotide variant	not specified [RCV004883873]	Chr2:169878546 [GRCh38] Chr2:170735056 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4157G>A (p.Arg1386His)	single nucleotide variant	not specified [RCV004883874]	Chr2:170007117 [GRCh38] Chr2:170863627 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.965G>C (p.Gly322Ala)	single nucleotide variant	not specified [RCV004883875]	Chr2:169877614 [GRCh38] Chr2:170734124 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.457G>A (p.Asp153Asn)	single nucleotide variant	not specified [RCV004883876]	Chr2:169827964 [GRCh38] Chr2:170684474 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4426A>G (p.Ser1476Gly)	single nucleotide variant	not specified [RCV004883877]	Chr2:170015339 [GRCh38] Chr2:170871849 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.2548G>A (p.Gly850Ser)	single nucleotide variant	not specified [RCV004883879]	Chr2:169928850 [GRCh38] Chr2:170785360 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.4787G>A (p.Ser1596Asn)	single nucleotide variant	not specified [RCV004883880]	Chr2:170061080 [GRCh38] Chr2:170917590 [GRCh37] Chr2:2q31.1	likely benign
NM_172070.4(UBR3):c.5132T>G (p.Phe1711Cys)	single nucleotide variant	not specified [RCV004883881]	Chr2:170073540 [GRCh38] Chr2:170930050 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.3370C>G (p.Pro1124Ala)	single nucleotide variant	not specified [RCV004883882]	Chr2:169949890 [GRCh38] Chr2:170806400 [GRCh37] Chr2:2q31.1	uncertain significance
NM_172070.4(UBR3):c.5017C>G (p.Gln1673Glu)	single nucleotide variant	not specified [RCV004883883]	Chr2:170061441 [GRCh38] Chr2:170917951 [GRCh37] Chr2:2q31.1	uncertain significance

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR615	hsa-miR-615-3p	Tarbase	external_info	Sequencing	POSITIVE

Predicted Target Of

	Summary Value
Count of predictions:	6667
Count of miRNA genes:	981
Interacting mature miRNAs:	1199
Transcripts:	ENST00000272793, ENST00000392631, ENST00000392632, ENST00000418381, ENST00000430321, ENST00000439681, ENST00000444475, ENST00000465630, ENST00000474426, ENST00000477461, ENST00000484596, ENST00000487689
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
597093794	GWAS1189868_H	amyloid plaque accumulation rate QTL GWAS1189868 (human)		0.0000002	amyloid plaque accumulation rate		2	169920011	169920012	Human
597095043	GWAS1191117_H	pulse pressure measurement QTL GWAS1191117 (human)		0.000003	pulse pressure measurement	pulse pressure (CMO:0000292)	2	170081096	170081097	Human
597286975	GWAS1383049_H	IGA glomerulonephritis QTL GWAS1383049 (human)		2e-09	IGA glomerulonephritis		2	170015466	170015467	Human
597309475	GWAS1405549_H	vaginal microbiome measurement QTL GWAS1405549 (human)		0.000002	vaginal microbiome measurement		2	169838626	169838627	Human
597309712	GWAS1405786_H	vaginal microbiome measurement QTL GWAS1405786 (human)		0.000004	vaginal microbiome measurement		2	169838626	169838627	Human
596977247	GWAS1096766_H	IGA glomerulonephritis QTL GWAS1096766 (human)		2e-09	IGA glomerulonephritis		2	170015466	170015467	Human
597302561	GWAS1398635_H	platelet count QTL GWAS1398635 (human)		4e-09	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	169971250	169971251	Human
597076682	GWAS1172756_H	FEV change measurement, response to bronchodilator QTL GWAS1172756 (human)		0.0000006	FEV change measurement, response to bronchodilator	respiratory system measurement (CMO:0000094)	2	169966664	169966665	Human

RH93598

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,939,602 - 170,939,776	UniSTS	GRCh37
Build 36	2	170,647,848 - 170,648,022	RGD	NCBI36
Celera	2	164,555,924 - 164,556,099	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,827,273 - 162,827,450	UniSTS
GeneMap99-GB4 RH Map	2	566.98	UniSTS

RH124011

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,903,014 - 170,903,352	UniSTS	GRCh37
Build 36	2	170,611,260 - 170,611,598	RGD	NCBI36
Celera	2	164,519,320 - 164,519,658	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,790,671 - 162,791,009	UniSTS
TNG Radiation Hybrid Map	2	95016.0	UniSTS

G60007

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,938,607 - 170,938,797	UniSTS	GRCh37
Build 36	2	170,646,853 - 170,647,043	RGD	NCBI36
Celera	2	164,554,929 - 164,555,119	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,826,278 - 162,826,468	UniSTS
TNG Radiation Hybrid Map	2	94987.0	UniSTS

G62540

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,805,449 - 170,805,792	UniSTS	GRCh37
Build 36	2	170,513,695 - 170,514,038	RGD	NCBI36
Celera	2	164,421,771 - 164,422,114	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,693,130 - 162,693,473	UniSTS
TNG Radiation Hybrid Map	2	95058.0	UniSTS

G63584

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,938,427 - 170,938,753	UniSTS	GRCh37
Build 36	2	170,646,673 - 170,646,999	RGD	NCBI36
Celera	2	164,554,749 - 164,555,075	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,826,098 - 162,826,424	UniSTS
TNG Radiation Hybrid Map	2	94991.0	UniSTS

SGC38024

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,940,352 - 170,940,625	UniSTS	GRCh37
Build 36	2	170,648,598 - 170,648,871	RGD	NCBI36
Celera	2	164,556,675 - 164,556,948	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,828,026 - 162,828,299	UniSTS
GeneMap99-GB4 RH Map	2	566.72	UniSTS
Whitehead-RH Map	2	845.6	UniSTS

RH70936

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,894,694 - 170,894,972	UniSTS	GRCh37
Build 36	2	170,602,940 - 170,603,218	RGD	NCBI36
Celera	2	164,511,005 - 164,511,283	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,782,355 - 162,782,633	UniSTS
GeneMap99-GB4 RH Map	2	567.18	UniSTS

D2S2775

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,730,297 - 170,730,475	UniSTS	GRCh37
Build 36	2	170,438,543 - 170,438,721	RGD	NCBI36
Celera	2	164,346,634 - 164,346,812	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,618,076 - 162,618,254	UniSTS

SHGC-35469

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,894,692 - 170,894,915	UniSTS	GRCh37
Build 36	2	170,602,938 - 170,603,161	RGD	NCBI36
Celera	2	164,511,003 - 164,511,226	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,782,353 - 162,782,576	UniSTS
TNG Radiation Hybrid Map	2	95024.0	UniSTS
GeneMap99-GB4 RH Map	2	558.6	UniSTS
Whitehead-RH Map	2	891.7	UniSTS
GeneMap99-G3 RH Map	2	7905.0	UniSTS

RH45361

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,938,579 - 170,938,797	UniSTS	GRCh37
Build 36	2	170,646,825 - 170,647,043	RGD	NCBI36
Celera	2	164,554,901 - 164,555,119	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,826,250 - 162,826,468	UniSTS
GeneMap99-GB4 RH Map	2	566.98	UniSTS

D2S1316

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,900,549 - 170,900,848	UniSTS	GRCh37
Build 36	2	170,608,795 - 170,609,094	RGD	NCBI36
Celera	2	164,516,860 - 164,517,159	RGD
Cytogenetic Map	2	q31.1	UniSTS
HuRef	2	162,788,211 - 162,788,510	UniSTS
Whitehead-YAC Contig Map	2		UniSTS

MARC_11813-11814:1029266043:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	170,937,114 - 170,938,335	UniSTS	GRCh37
Celera	2	164,553,436 - 164,554,657	UniSTS
HuRef	2	162,824,785 - 162,826,006	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	4973	1726	2351	6	624	1951	465	2269	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_172070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB095944	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC009967	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC079151	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC092641	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI142128	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK127553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC044060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC044594	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC113010	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF446017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU158552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU686724	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX281113	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX494687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX649036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR749469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA108743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA234864	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA301129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA352029	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DN831941	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DR731153	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000272793 ⟹ ENSP00000272793

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	169,827,454 - 170,084,131 (+)	Ensembl

Ensembl Acc Id:

ENST00000392632 ⟹ ENSP00000376409

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	169,946,310 - 170,084,120 (+)	Ensembl

Ensembl Acc Id:

ENST00000418381 ⟹ ENSP00000396068

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	169,827,508 - 170,084,127 (+)	Ensembl

Ensembl Acc Id:

ENST00000430321 ⟹ ENSP00000415982

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	169,928,861 - 170,084,131 (+)	Ensembl

Ensembl Acc Id:

ENST00000439681 ⟹ ENSP00000389097

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	170,001,373 - 170,082,259 (+)	Ensembl

Ensembl Acc Id:

ENST00000444475 ⟹ ENSP00000408436

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	170,008,840 - 170,084,131 (+)	Ensembl

Ensembl Acc Id:

ENST00000465630

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	170,014,040 - 170,029,435 (+)	Ensembl

Ensembl Acc Id:

ENST00000474426

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	170,014,803 - 170,084,131 (+)	Ensembl

Ensembl Acc Id:

ENST00000477461

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	169,947,409 - 169,949,892 (+)	Ensembl

Ensembl Acc Id:

ENST00000484596

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	170,080,024 - 170,081,855 (+)	Ensembl

Ensembl Acc Id:

ENST00000487689

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	169,949,482 - 169,958,521 (+)	Ensembl

RefSeq Acc Id:

NM_172070 ⟹ NP_742067

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	169,827,454 - 170,084,131 (+)	NCBI
GRCh37	2	170,684,010 - 170,940,641 (+)	NCBI
Build 36	2	170,514,548 - 170,648,883 (+)	NCBI Archive
Celera	2	164,300,400 - 164,556,964 (+)	RGD
HuRef	2	162,572,017 - 162,828,315 (+)	RGD
CHM1_1	2	170,689,889 - 170,947,009 (+)	NCBI
T2T-CHM13v2.0	2	170,305,020 - 170,561,615 (+)	NCBI

Sequence:

show sequence

ACTCTCCCTGGAGGAGCCGCTGGCCCTGGACTCTCCAAATTCTGAGCTCTCATCATGGCGGCGGCGGCCGCGGCGGCCGTCGGGGGCCAGCAGCCGTCACAGCCCGAGCTGCCCGCGCCGGGGCTGGC
CCTAGACAAGGCGGCCACCGCCGCGCACCTCAAGGCGGCCCTCAGCCGGCCGGACAACCGCGCAGGTGCTGAGGAGCTGCAGGCGCTGCTGGAGCGGGTGCTGAGCGCCGAGCGGCCGCTGGCCGCGG
CTGCCGGCGGCGAGGACGCGGCGGCGGCCGGAGGCGGGGGCGGTCCGGGGGCGGCCGAGGAGGAGGCCCTGGAGTGGTGTAAGTGCCTTCTGGCGGGCGGCGGCGGCTACGACGAGTTCTGCGCGGCG
GTGCGGGCCTACGATCCCGCGGCGCTCTGCGGCCTGGTCTGGACAGCCAACTTCGTGGCCTACCGCTGCCGGACGTGCGGCATCTCGCCCTGCATGTCGCTGTGCGCCGAGTGCTTCCACCAGGGCGA
CCACACCGGACACGACTTCAACATGTTCCGCAGCCAGGCCGGGGGCGCCTGCGACTGCGGGGACAGCAACGTGATGCGGGAGAGCGGGTTTTGCAAAAGGCATCAAATTAAATCAAGTTCAAATATTC
CCTGTGTCCCTAAAGACTTACTGATGATGTCTGAATTTGTTCTTCCAAGATTTATATTTTGTCTTATTCAGTACTTAAGAGAAGGCTATAATGAACCAGCAGCTGATGGACCATCAGAAAAGGACCTT
AACAAAGTCCTTCAGCTTTTGGAACCTCAAATTTCCTTTTTAGAAGACCTGACTAAAATGGGAGGAGCAATGCGGTCTGTTCTTACTCAGGTTTTGACAAACCAACAAAACTACAAAGATCTGACTTC
TGGTCTTGGAGAAAATGCTTGTGTAAAGAAAAGTCATGAAAAGTACCTTATAGCTTTAAAGAGCTCTGGACTTACATATCCTGAGGATAAGCTTGTATATGGTGTGCAGGAGCCATCTGCTGGTACTA
GTTCTCTGGCTGTTCAAGGTTTCATAGGCGCAACAGGAACTTTGGGACAAGTGGATTCTTCAGATGAGGATGATCAGGATGGTAGTCAAGGTCTGGGCAAGAGAAAAAGGGTAAAACTAAGCAGTGGC
ACCAAAGATCAATCCATAATGGATGTTTTGAAGCATAAAAGCTTCCTAGAAGAACTATTATTTTGGACTATAAAATATGAATTCCCTCAAAAGATGGTAACTTTCTTACTCAACATGCTTCCAGATCA
AGAGTATAAGGTTGCTTTTACAAAAACTTTTGTTCAGCATTATGCTTTCATTATGAAAACACTGAAGAAAAGTCATGAATCAGACACAATGTCTAACAGAATTGTGCATATTAGTGTTCAGTTGTTCA
GCAATGAGGAGCTAGCCAGACAGGTAACAGAAGAATGTCAGCTGCTGGATATTATGGTCACTGTGCTATTATACATGATGGAAAGTTGCCTTATTAAAAGTGAGCTACAAGATGAAGAAAATAGTTTA
CATGTGGTAGTGAACTGTGGAGAAGCATTACTGAAGAATAACACTTACTGGCCTCTTGTTAGTGATTTTATTAATATTCTTTCTCATCAAAGTGTGGCCAAGAGATTTTTGGAGGATCACGGTTTGTT
AGTTACATGGATGAACTTTGTATCTTTCTTTCAAGGTATGAACTTAAACAAGCGAGAACTAAACGAGCATGTGGAATTTGAGTCTCAGACCTACTATGCTGCCTTTGCTGCTGAACTTGAGGCCTGTG
CACAGCCAATGTGGGGGCTTTTATCACATTGTAAAGTTAGGGAAACTCAAGAGTATACCCGAAATGTTGTTAGATATTGCCTTGAAGCTCTTCAAGACTGGTTTGATGCTATTAACTTCGTAGACGAG
CCAGCACCTAACCAAGTCACTTTTCATCTGCCACTACATCGTTACTATGCTATGTTTTTGAGTAAGGCTGTGAAATGTCAAGAACTAGATTTGGATTCTGTTTTACCAGATCAGGAAATGTTAATGAA
ACTAATGATTCACCCACTCCAAATTCAAGCAAGTCTTGCAGAAATCCACAGCAATATGTGGGTAAGAAATGGTCTGCAAATCAAAGGACAAGCCATGACGTATGTCCAGTCTCATTTCTGTAATTCCA
TGATTGATCCTGACATTTACCTGTTACAGGTTTGTGCTTCTAGACTTGACCCAGATTATTTTATTTCATCCGTCTTTGAAAGATTTAAGGTAGTGGATTTGTTGACAATGGCATCACAACATCAAAAT
ACAGTACTTGATGCAGAGCATGAGAGGTCGATGTTAGAAGGCGCTCTTACATTTCTTGTGATTCTTTTGAGTCTTCGTTTACATTTAGGAATGTCTGATGATGAGATTCTCAGGGCCGAGATGGTAGC
CCAGCTGTGTATGAATGACAGGACACACAGTTCATTGCTGGACCTCATTCCAGAAAATCCTAATCCCAAAAGTGGCATTATTCCAGGCAGTTACAGCTTTGAATCAGTTTTATCAGCTGTAGCTGATT
TTAAGGCTCCTGTTTTTGAACCTGGAGGTTCTATGCAACAAGGCATGTATACTCCCAAAGCTGAAGTCTGGGATCAAGAGTTTGACCCCGTCATGGTCATTCTTCGAACAGTTTACCGTAGAGATGTG
CAGTCTGCAATGGACAGATATACTGCATTTTTAAAACAGAGTGGAAAATTTCCTGGAAATCCCTGGCCTCCATATAAGAAAAGGACATCACTCCATCCTAGCTATAAAGGTCTTATGAGACTTTTGCA
CTGTAAAACTTTACACATTGTGCTATTCACTCTGCTTTACAAGATTTTGATGGATCATCAAAATCTGTCAGAACATGTACTCTGCATGGTTTTATATCTGATTGAATTAGGACTTGAAAATTCTGCTG
AAGAAGAATCAGATGAAGAGGCATCAGTGGGTGGACCAGAACGTTGTCATGACAGTTGGTTTCCTGGCAGTAACTTAGTGTCAAACATGCGACACTTTATAAACTATGTTAGAGTAAGAGTTCCAGAG
ACTGCTCCTGAAGTAAAGAGAGACTCACCTGCAAGTACTAGCTCTGATAACTTGGGTTCTTTACAAAATTCTGGTACAGCTCAAGTTTTCAGTTTAGTAGCAGAACGTAGAAAGAAATTTCAGGAAAT
CATCAATCGCAGTAGCAGTGAAGCAAATCAGGTGGTTCGTCCCAAAACTTCAAGTAAATGGTCTGCTCCTGGTTCAGCTCCACAGTTAACTACAGCCATTTTGGAAATTAAAGAAAGCATATTGTCTT
TGCTAATTAAACTTCACCACAAACTCTCAGGAAAACAAAACTCCTACTATCCTCCTTGGCTTGATGACATAGAAATTTTAATCCAACCAGAAATTCCTAAATACAGTCATGGAGATGGTATAACTGCC
GTGGAAAGAATTTTACTAAAAGCTGCATCGCAAAGTAGAATGAACAAACGCATCATTGAAGAGATATGTAGAAAAGTGACCCCTCCTGTACCACCTAAAAAAGTCACTGCAGCAGAGAAGAAAACATT
GGACAAAGAAGAAAGGCGACAGAAGGCTAGAGAGAGGCAGCAGAAATTGCTTGCGGAGTTTGCTTCACGACAGAAAAGCTTTATGGAAACTGCAATGGATGTTGATTCTCCTGAGAATGATATTCCTA
TGGAGATCACCACGGCAGAACCACAGGTTTCCGAGGCAGTATATGACTGTGTTATTTGTGGACAGAGTGGCCCCTCCTCTGAAGATCGACCTACTGGATTAGTTGTACTGTTACAAGCATCCTCAGTT
TTGGGGCAGTGCCGTGACAATGTTGAGCCAAAAAAGTTGCCGATCAGTGAAGAGGAGCAGATTTACCCTTGGGATACCTGTGCAGCCGTTCATGATGTGAGGCTTTCATTATTACAGCGTTATTTTAA
GGATAGTTCATGTCTCTTGGCAGTATCAATTGGCTGGGAAGGAGGTGTTTATGTACAAACCTGTGGTCACACATTACATATAGATTGTCATAAATCTTACATGGAATCATTACGGAATGACCAGGTTC
TTCAGGGCTTCTCGGTGGACAAAGGAGAATTCACGTGTCCACTCTGTAGGCAGTTTGCTAACAGTGTTCTTCCATGTTATCCTGGAAGCAATGTGGAAAATAACCCTTGGCAACGTCCTAGCAACAAA
AGCATACAAGATCTCATAAAGGAAGTGGAGGAGCTGCAGGGACGACCGGGAGCTTTCCCATCAGAAACAAATTTAAGTAAAGAAATGGAATCTGTAATGAAAGATATAAAAAATACCACTCAGAAGAA
ATATAGAGACTATAGCAAGACCCCGGGCTCACCAGACAATGATTTTCTCTTTATGTACTCTGTTGCTAGAACCAATTTAGAACTTGAATTGATTCATCGAGGAGGCAATTTGTGTTCAGGTGGTGCAA
GCACAGCTGGCAAAAGGTCTTGTTTAAATCAGCTGTTTCATGTATTAGCCTTGCACATGCGGCTTTATAGCATTGACTCTGAGTATAATCCCTGGAGAAAGCTCACCCAGTTAGAAGAGATGAATCCA
CAGCTGGGATATGAAGAACAACAGCCTGAGGTTCCAATTCTTTATCATGATGTAACATCCCTTTTGCTCATCCAGATCTTAATGATGCCACAACCCTTACGCAAAGACCACTTTACCTGCATTGTGAA
GGTACTTTTTACCCTACTGTACACACAGGCTCTTGCAGCACTCTCAGTTAAATGCAGCGAAGAAGATAGGTCAGCCTGGAAACACGCGGGAGCTCTCAAAAAGAGTACATGTGATGCAGAAAAGTCTT
ACGAAGTATTACTGAGCTTTGTGATAAGTGAACTATTTAAAGGAAAGTTATACCATGAAGAAGGAACTCAGGAATGTGCAATGGTTAACCCTATTGCTTGGTCTCCTGAATCCATGGAAAAATGCTTA
CAGGACTTCTGCTTACCTTTTCTCAGAATCACCAGCCTTCTTCAGCACCACCTTTTTGGGGAAGATTTACCTAGCTGCCAGGAAGAAGAAGAATTTTCAGTTCTTGCCAGCTGCCTGGGACTTCTGCC
AACGTTTTACCAAACAGAACATCCATTCATCAGTGCCTCCTGTCTGGATTGGCCAGTTCCAGCATTTGATATTATAACTCAGTGGTGTTTTGAGATAAAATCATTTACTGAAAGACATGCAGAACAAG
GAAAGGCCTTGCTTATCCAAGAGTCAAAATGGAAATTACCACACCTACTACAGTTGCCTGAGAATTATAACACCATTTTTCAGTACTACCACAGAAAAACCTGTAGTGTCTGCACCAAGGTTCCTAAA
GATCCTGCTGTTTGCCTTGTGTGTGGTACTTTTGTATGCCTGAAAGGACTTTGCTGCAAGCAACAAAGTTACTGTGAATGTGTACTGCACTCTCAGAACTGTGGTGCAGGAACAGGTATTTTCCTTTT
GATCAATGCATCGGTAATTATCATCATTCGAGGTCACCGCTTCTGCCTCTGGGGTTCCGTGTATTTGGATGCTCATGGAGAGGAAGACCGGGATCTTAGGCGAGGCAAACCTCTCTACATTTGTAAGG
AAAGATACAAAGTTCTTGAGCAACAGTGGATTTCTCATACTTTTGATCACATCAATAAAAGATGGGGTCCACATTACAATGGGCTGTGACTCTCCACCTCAGCATTGCATCGTATCATCATTTTCGCT
ACGAATTTATTTTTCAACAATAAGCTTTAACTTAATTTGGGGGATTAACACTTTTGCTGAGGGAGAAAAAGAAAACATACATTATGAAGCCTTTCCAAAATTAGGTGCTTGGTAATCACGTTAATGGT
ATAATTTTTTTTTTTTAATATCTGGAGAACATTAATAACAAGTTAAATTATTCTTTAGTGGTCATTTTTTAAGTGCACAATTAATAAGAAGCACAACTTGTTCACAAACTCATTCAGAAATGATTCTC
CCAACAATGCGTATCAGCTATTCATTGATACTTAGAGTGGGTGTGATTTATTTGACATTTTACTGCTTCTTTCTGTCTGTGTGTTTTAATTTGCATCTGCCAAGCATAATGCATCTTTTTTCCTCTGC
CATTCTTGTGTTGATTGGAGAATTTTTCTGTATGTAATTAGAAAAAAATGTAAAACATGATTTATGTGAAATACTGTATAGTAAAAGTTGGTCTAATAGTAGAACTTTAAAATTTTTTCTTATTGTGA
GGAATCTGTTAAAAGTTTAAAGCTTTGCTGAAAACTGAATTCATTCTCAGGAATTTCATAAATCTTCTCCCCAGGTAAATAATTGAAATAGCTGTAAAATAAGTAGATAGCTGCTGTTAATATAATAC
AGTACATTTTGGGGGGCATATGTGTGGTTGGGGGGTCCTTAAAAATCAAAATTTGCCATTTCAGTTGGATGAATTACTAGAGGTAATAACAAATCTTACTATGAAATCAAGAGGTTTAAGAACATACA
CTGGGCAGATGTTGATTCCGTGCATGCCCACCTTTTATTACCAAACAAGGTTTTGTTTATATGATTGTATTAGAAATGCTCAGACTTCCCCAGAAATGAACCATAAATTTTGGAACTTCCTTTCAGCT
CAAGAGGTTCAGCTATATTGTATTTGTGCAGTGTAATCACTACTATTTCTGCTCGGTTTCCTAAAAGGAAAAAAAAGGCGCAGTGGTGATGACCCTCATGAATGAGCCACGCTTCTGCATTCTTCTTA
GAAACTGCTGTGAAAAACAATTTATGTTTGCAGGGTTTAAAAATCAGTAAAAATGGGAATGATTGAGCTAAAACCCACTCTATGAGAAGGAAGATTACTGAAAAGCATGTGACATATTGCTACAAAGA
TTTTTTTTCCTAAATGATTCAGTAATTGAATGATTATTTAATATATAGTGCTATCAAGCAATCCCTGGTACTTTGGACTTCCATGGCTTGTTATATAAAATTACATTTTTACATGTAAAAATAAACTA
AACAAATCTAATGATAAAATATGTCAGATCCATGTTCTAAAAAATTTTTGTAATGACATGACATTACAAGAGTATAAAAATGGACATTAAATCATGGCCTTGCATTAAAATATGGAAAGCAGAGCAGT
ACATATTCAAATGTATTCAGAAAGTCAAAAGATTACCTATCGTTCTACAATAAAATACATGGAAATAGCTTGCTATTTTTATATACATTTCCAAAATATTAAGATAACTTTCTGTAAGAGTCAATGAT
TCTGTTCGACTAAATAGCTGTCCTTTCCAACACATTGCTACTTTTTTAAATACTGTATCATAAGTTCAGCCTGTCATACTTTTTGCATTGATCGTTATGAATACCAGACCATTTGTAAGTGTGGTTGA
AGAGCAAAATGCTAATTGACATCTCTAGTAAATACTGTTACAGGATTCATGAACTTGAATAATTCTACAGTTTGAAACTCTGATGCTATATATACATGGTATAATGTATTCAGACTTTGATTACTACT
TATTTAAAATGGAATGTTTTATGGTTGTGCATATGGATGTGAAGTGAAAATATTAGCCTTAACTTTAAAATTTGGGTGTTTGATAGTGTTTATTTTGATATTGGTGAATTAGTCACCAGTAAATTTTA
AAAAAGCACTTGGTTGAAAATTGTACTTGAATACATACATGCATGCTGCTAAACTAGAACTTTAATTTTTCCCCATAACTTTTATAAGTCCCATTTATAAACCCACTTTTAAAAATAACAGGTCCAAG
TTAGAGTGATGTGTGTATATTATTCAAAAAAATGTACTGGTGTGATATCTTGTATGAATGATCATTTAAATACAGTACATTACTGTAGAAGCTAAATTGATCTTTATAATTAAGCAGAAATTACAAAA
CTAGGAATAATCAACATTGTAAGATATGTTAATAAAAACCTGCTGTCATTTGGTTTGTGAAAGGTCCTTAAAA

hide sequence


Protein RefSeqs	NP_742067	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAY14890	(Get FASTA)	NCBI Sequence Viewer
	BAC23120	(Get FASTA)	NCBI Sequence Viewer
	BAC86783	(Get FASTA)	NCBI Sequence Viewer
	BAC87032	(Get FASTA)	NCBI Sequence Viewer
	BAC87462	(Get FASTA)	NCBI Sequence Viewer
	BAG64179	(Get FASTA)	NCBI Sequence Viewer
	CAD38857	(Get FASTA)	NCBI Sequence Viewer
	CAH18299	(Get FASTA)	NCBI Sequence Viewer
	EAX11248	(Get FASTA)	NCBI Sequence Viewer
	EAX11249	(Get FASTA)	NCBI Sequence Viewer
	EAX11250	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000272793
	ENSP00000272793.5
GenBank Protein	Q6ZT12	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_742067 ⟸ NM_172070

- UniProtKB:

Q8IVE7 (UniProtKB/Swiss-Prot), Q6ZSC2 (UniProtKB/Swiss-Prot), Q6ZR55 (UniProtKB/Swiss-Prot), Q2KHN5 (UniProtKB/Swiss-Prot), B4DZR7 (UniProtKB/Swiss-Prot), Q8ND96 (UniProtKB/Swiss-Prot), Q6ZT12 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAAAAAAAVGGQQPSQPELPAPGLALDKAATAAHLKAALSRPDNRAGAEELQALLERVLSAERPLAAAAGGEDAAAAGGGGGPGAAEEEALEWCKCLLAGGGGYDEFCAAVRAYDPAALCGLVWTANF
VAYRCRTCGISPCMSLCAECFHQGDHTGHDFNMFRSQAGGACDCGDSNVMRESGFCKRHQIKSSSNIPCVPKDLLMMSEFVLPRFIFCLIQYLREGYNEPAADGPSEKDLNKVLQLLEPQISFLEDLT
KMGGAMRSVLTQVLTNQQNYKDLTSGLGENACVKKSHEKYLIALKSSGLTYPEDKLVYGVQEPSAGTSSLAVQGFIGATGTLGQVDSSDEDDQDGSQGLGKRKRVKLSSGTKDQSIMDVLKHKSFLEE
LLFWTIKYEFPQKMVTFLLNMLPDQEYKVAFTKTFVQHYAFIMKTLKKSHESDTMSNRIVHISVQLFSNEELARQVTEECQLLDIMVTVLLYMMESCLIKSELQDEENSLHVVVNCGEALLKNNTYWP
LVSDFINILSHQSVAKRFLEDHGLLVTWMNFVSFFQGMNLNKRELNEHVEFESQTYYAAFAAELEACAQPMWGLLSHCKVRETQEYTRNVVRYCLEALQDWFDAINFVDEPAPNQVTFHLPLHRYYAM
FLSKAVKCQELDLDSVLPDQEMLMKLMIHPLQIQASLAEIHSNMWVRNGLQIKGQAMTYVQSHFCNSMIDPDIYLLQVCASRLDPDYFISSVFERFKVVDLLTMASQHQNTVLDAEHERSMLEGALTF
LVILLSLRLHLGMSDDEILRAEMVAQLCMNDRTHSSLLDLIPENPNPKSGIIPGSYSFESVLSAVADFKAPVFEPGGSMQQGMYTPKAEVWDQEFDPVMVILRTVYRRDVQSAMDRYTAFLKQSGKFP
GNPWPPYKKRTSLHPSYKGLMRLLHCKTLHIVLFTLLYKILMDHQNLSEHVLCMVLYLIELGLENSAEEESDEEASVGGPERCHDSWFPGSNLVSNMRHFINYVRVRVPETAPEVKRDSPASTSSDNL
GSLQNSGTAQVFSLVAERRKKFQEIINRSSSEANQVVRPKTSSKWSAPGSAPQLTTAILEIKESILSLLIKLHHKLSGKQNSYYPPWLDDIEILIQPEIPKYSHGDGITAVERILLKAASQSRMNKRI
IEEICRKVTPPVPPKKVTAAEKKTLDKEERRQKARERQQKLLAEFASRQKSFMETAMDVDSPENDIPMEITTAEPQVSEAVYDCVICGQSGPSSEDRPTGLVVLLQASSVLGQCRDNVEPKKLPISEE
EQIYPWDTCAAVHDVRLSLLQRYFKDSSCLLAVSIGWEGGVYVQTCGHTLHIDCHKSYMESLRNDQVLQGFSVDKGEFTCPLCRQFANSVLPCYPGSNVENNPWQRPSNKSIQDLIKEVEELQGRPGA
FPSETNLSKEMESVMKDIKNTTQKKYRDYSKTPGSPDNDFLFMYSVARTNLELELIHRGGNLCSGGASTAGKRSCLNQLFHVLALHMRLYSIDSEYNPWRKLTQLEEMNPQLGYEEQQPEVPILYHDV
TSLLLIQILMMPQPLRKDHFTCIVKVLFTLLYTQALAALSVKCSEEDRSAWKHAGALKKSTCDAEKSYEVLLSFVISELFKGKLYHEEGTQECAMVNPIAWSPESMEKCLQDFCLPFLRITSLLQHHL
FGEDLPSCQEEEEFSVLASCLGLLPTFYQTEHPFISASCLDWPVPAFDIITQWCFEIKSFTERHAEQGKALLIQESKWKLPHLLQLPENYNTIFQYYHRKTCSVCTKVPKDPAVCLVCGTFVCLKGLC
CKQQSYCECVLHSQNCGAGTGIFLLINASVIIIIRGHRFCLWGSVYLDAHGEEDRDLRRGKPLYICKERYKVLEQQWISHTFDHINKRWGPHYNGL

hide sequence

Ensembl Acc Id:

ENSP00000389097 ⟸ ENST00000439681

Ensembl Acc Id:

ENSP00000396068 ⟸ ENST00000418381

Ensembl Acc Id:

ENSP00000272793 ⟸ ENST00000272793

Ensembl Acc Id:

ENSP00000408436 ⟸ ENST00000444475

Protein Domains

E3 ubiquitin-protein ligase UBR-like C-terminal

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6ZT12-F1-model_v2	AlphaFold	Q6ZT12	1-1888	view protein structure

RGD ID:

6798382

Promoter ID:

HG_KWN:35837

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

OTTHUMT00000323261, OTTHUMT00000323263

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	170,578,521 - 170,579,021 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	UBR3	COSMIC
Ensembl Genes	ENSG00000144357	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000272793	ENTREZGENE
	ENST00000272793.11	UniProtKB/Swiss-Prot
Gene3D-CATH	2.10.110.30	UniProtKB/Swiss-Prot
GTEx	ENSG00000144357	GTEx
HGNC ID	HGNC:30467	ENTREZGENE
Human Proteome Map	UBR3	Human Proteome Map
InterPro	E3_ligase_UBR-like_C	UniProtKB/Swiss-Prot
	UBR1-like	UniProtKB/Swiss-Prot
	UBR1-like_winged-helix	UniProtKB/Swiss-Prot
	Znf_UBR	UniProtKB/Swiss-Prot
KEGG Report	hsa:130507	UniProtKB/Swiss-Prot
NCBI Gene	130507	ENTREZGENE
OMIM	613831	OMIM
PANTHER	E3 UBIQUITIN-PROTEIN LIGASE UBR3	UniProtKB/Swiss-Prot
	PTHR21497	UniProtKB/Swiss-Prot
Pfam	PRT6_C	UniProtKB/Swiss-Prot
	UBR1-like_wing	UniProtKB/Swiss-Prot
	zf-UBR	UniProtKB/Swiss-Prot
PharmGKB	PA162407919	PharmGKB
PROSITE	ZF_UBR	UniProtKB/Swiss-Prot
SMART	ZnF_UBR1	UniProtKB/Swiss-Prot
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot
UniProt	B4DZR7	ENTREZGENE
	F8WEB7_HUMAN	UniProtKB/TrEMBL
	H0Y3K2_HUMAN	UniProtKB/TrEMBL
	H7BZD8_HUMAN	UniProtKB/TrEMBL
	H7C481_HUMAN	UniProtKB/TrEMBL
	Q2KHN5	ENTREZGENE
	Q6ZR55	ENTREZGENE
	Q6ZSC2	ENTREZGENE
	Q6ZT12	ENTREZGENE
	Q8IVE7	ENTREZGENE
	Q8ND96	ENTREZGENE
	UBR3_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B4DZR7	UniProtKB/Swiss-Prot
	Q2KHN5	UniProtKB/Swiss-Prot
	Q6ZR55	UniProtKB/Swiss-Prot
	Q6ZSC2	UniProtKB/Swiss-Prot
	Q8IVE7	UniProtKB/Swiss-Prot
	Q8ND96	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-07-10	UBR3	ubiquitin protein ligase E3 component n-recognin 3		ubiquitin protein ligase E3 component n-recognin 3 (putative)	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

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