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Gene: EMC3 (ER membrane protein complex subunit 3) Homo sapiens

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Symbol:

EMC3

Name:

ER membrane protein complex subunit 3

RGD ID:

1601753

HGNC Page

HGNC:23999

Description:

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

30 kDa protein; partial optokinetic response b; POB; TMEM111; transmembrane protein 111

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Emc3 (ER membrane protein complex subunit 3)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Rattus norvegicus (Norway rat):	Emc3 (ER membrane protein complex subunit 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Emc3 (ER membrane protein complex subunit 3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	EMC3 (ER membrane protein complex subunit 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	EMC3 (ER membrane protein complex subunit 3)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Emc3 (ER membrane protein complex subunit 3)	NCBI	Ortholog
Sus scrofa (pig):	EMC3 (ER membrane protein complex subunit 3)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther
Chlorocebus sabaeus (green monkey):	EMC3 (ER membrane protein complex subunit 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Emc3 (ER membrane protein complex subunit 3)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Emc3 (ER membrane protein complex subunit 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Emc3 (ER membrane protein complex subunit 3)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	emc3 (ER membrane protein complex subunit 3)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	EMC3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	EMC3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	emc-3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	emc3.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	emc3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	tmem111.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	tmem111.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

AC026464.5

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	3	9,962,682 - 10,011,118 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	9,962,682 - 10,011,202 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	10,004,366 - 10,052,802 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	9,980,636 - 10,003,524 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	3	9,941,078 - 9,963,960 (-)	NCBI		Celera
Cytogenetic Map	3	p25.3	NCBI
HuRef	3	9,941,969 - 9,964,880 (-)	NCBI		HuRef
CHM1_1	3	9,955,806 - 9,978,657 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	9,954,666 - 10,003,118 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
EMC3	Human	Atrioventricular Septal Defect 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Atrioventricular septal defect more ...	ClinVar	PMID:25516202 and PMID:28492532
EMC3	Human	Atrioventricular Septal Defect 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Atrioventricular septal defect more ...	ClinVar	PMID:28492532
EMC3	Human	Candidiasis, Familial, 9		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Candidiasis more ...	ClinVar	PMID:28492532
EMC3	Human	myoclonic-atonic epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure	ClinVar	PMID:25865495 more ...
EMC3	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
EMC3	Human	severe congenital neutropenia 6		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	ClinVar	PMID:28492532

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
EMC3	Human	(S)-nicotine	decreases expression	ISO	Emc3 (Mus musculus)	6480464	Nicotine results in decreased expression of EMC3 mRNA	CTD	PMID:17997037
EMC3	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Emc3 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of EMC3 mRNA	CTD	PMID:22206623
EMC3	Human	17alpha-ethynylestradiol	affects expression	ISO	Emc3 (Mus musculus)	6480464	Ethinyl Estradiol affects the expression of EMC3 mRNA	CTD	PMID:17555576
EMC3	Human	17beta-estradiol	increases expression	ISO	Emc3 (Mus musculus)	6480464	Estradiol results in increased expression of EMC3 mRNA	CTD	PMID:39298647
EMC3	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Emc3 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of EMC3 mRNA	CTD	PMID:18796159
EMC3	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Emc3 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of EMC3 mRNA	CTD	PMID:18343893 and PMID:21570461
EMC3	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Emc3 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of EMC3 mRNA	CTD	PMID:15328365
EMC3	Human	2,3,7,8-Tetrachlorodibenzofuran	affects expression	ISO	Emc3 (Mus musculus)	6480464	2 more ...	CTD	PMID:18343893
EMC3	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of EMC3 mRNA	CTD	PMID:23724009
EMC3	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 EMC3 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of EMC3 mRNA	CTD	PMID:39836092
EMC3	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 EMC3 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of EMC3 mRNA	CTD	PMID:39836092
EMC3	Human	benzo[a]pyrene	decreases expression	ISO	Emc3 (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of EMC3 mRNA	CTD	PMID:22228805
EMC3	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of EMC3 intron	CTD	PMID:30157460
EMC3	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of EMC3 mRNA	CTD	PMID:21632981
EMC3	Human	bisphenol A	increases expression	ISO	Emc3 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of EMC3 mRNA	CTD	PMID:25181051
EMC3	Human	bisphenol A	increases expression	ISO	Emc3 (Mus musculus)	6480464	bisphenol A results in increased expression of EMC3 mRNA	CTD	PMID:33221593
EMC3	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of EMC3 mRNA	CTD	PMID:38568856
EMC3	Human	carbon nanotube	affects expression	ISO	Emc3 (Mus musculus)	6480464	Nanotubes and Carbon affects the expression of EMC3 protein	CTD	PMID:21135415
EMC3	Human	celecoxib	affects expression	ISO	Emc3 (Mus musculus)	6480464	Celecoxib affects the expression of EMC3 mRNA	CTD	PMID:20562220
EMC3	Human	choline	multiple interactions	ISO	Emc3 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of EMC3 gene	CTD	PMID:20938992
EMC3	Human	chromium(6+)	multiple interactions	EXP		6480464	[zinc chromate results in increased abundance of chromium hexavalent ion] which results in increased expression of EMC3 mRNA	CTD	PMID:38479592
EMC3	Human	cobalt dichloride	increases expression	EXP		6480464	cobaltous chloride results in increased expression of EMC3 mRNA	CTD	PMID:19320972
EMC3	Human	copper(II) sulfate	increases expression	EXP		6480464	Copper Sulfate results in increased expression of EMC3 mRNA	CTD	PMID:19549813
EMC3	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of EMC3 mRNA	CTD	PMID:25562108
EMC3	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of EMC3 mRNA	CTD	PMID:28302478
EMC3	Human	disodium selenite	decreases expression	EXP		6480464	Sodium Selenite results in decreased expression of EMC3 mRNA	CTD	PMID:18175754
EMC3	Human	fenthion	decreases expression	ISO	Emc3 (Mus musculus)	6480464	Fenthion results in decreased expression of EMC3 mRNA	CTD	PMID:34813904
EMC3	Human	folic acid	multiple interactions	ISO	Emc3 (Mus musculus)	6480464	[1 more ...	CTD	PMID:20938992 and PMID:22206623
EMC3	Human	hydrogen peroxide	multiple interactions	EXP		6480464	[Hydrogen Peroxide co-treated with Theophylline] results in increased expression of EMC3 protein	CTD	PMID:18951874
EMC3	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of EMC3 protein	CTD	PMID:32959892
EMC3	Human	kainic acid	decreases expression	ISO	Emc3 (Mus musculus)	6480464	Kainic Acid results in decreased expression of EMC3 mRNA	CTD	PMID:17997037
EMC3	Human	L-methionine	multiple interactions	ISO	Emc3 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of EMC3 gene	CTD	PMID:20938992
EMC3	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 EMC3 mRNA	CTD	PMID:39836092
EMC3	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 EMC3 mRNA	CTD	PMID:39836092
EMC3	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 EMC3 mRNA	CTD	PMID:39836092
EMC3	Human	methidathion	decreases expression	ISO	Emc3 (Mus musculus)	6480464	methidathion results in decreased expression of EMC3 mRNA	CTD	PMID:34813904
EMC3	Human	nickel atom	decreases expression	EXP		6480464	Nickel results in decreased expression of EMC3 mRNA	CTD	PMID:24768652 and PMID:25583101
EMC3	Human	nicotine	decreases expression	ISO	Emc3 (Mus musculus)	6480464	Nicotine results in decreased expression of EMC3 mRNA	CTD	PMID:17997037
EMC3	Human	nitrates	multiple interactions	ISO	Emc3 (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of EMC3 mRNA	CTD	PMID:35964746
EMC3	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of EMC3 mRNA	CTD	PMID:22230336
EMC3	Human	parathion	decreases expression	ISO	Emc3 (Mus musculus)	6480464	Parathion results in decreased expression of EMC3 mRNA	CTD	PMID:34813904
EMC3	Human	pirinixic acid	increases expression	ISO	Emc3 (Mus musculus)	6480464	pirinixic acid results in increased expression of EMC3 mRNA	CTD	PMID:23811191
EMC3	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of EMC3 mRNA	CTD	PMID:38568856
EMC3	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 EMC3 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in increased expression of EMC3 mRNA	CTD	PMID:39836092
EMC3	Human	tamoxifen	affects expression	ISO	Emc3 (Mus musculus)	6480464	Tamoxifen affects the expression of EMC3 mRNA	CTD	PMID:17555576
EMC3	Human	theophylline	multiple interactions	EXP		6480464	[Hydrogen Peroxide co-treated with Theophylline] results in increased expression of EMC3 protein	CTD	PMID:18951874
EMC3	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of EMC3 mRNA	CTD	PMID:38568856
EMC3	Human	titanium dioxide	decreases methylation	ISO	Emc3 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of TMEM111 gene	CTD	PMID:35295148
EMC3	Human	Triptolide	increases expression	ISO	Emc3 (Rattus norvegicus)	6480464	triptolide results in increased expression of EMC3 protein	CTD	PMID:32519852
EMC3	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of EMC3 mRNA	CTD	PMID:28818685
EMC3	Human	valproic acid	affects expression	ISO	Emc3 (Mus musculus)	6480464	Valproic Acid affects the expression of EMC3 mRNA	CTD	PMID:17292431
EMC3	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of EMC3 mRNA	CTD	PMID:23179753 and PMID:29154799
EMC3	Human	vinclozolin	increases methylation	ISO	Emc3 (Rattus norvegicus)	6480464	vinclozolin results in increased methylation of EMC3 gene	CTD	PMID:31682807
EMC3	Human	vorinostat	decreases expression	EXP		6480464	vorinostat results in decreased expression of EMC3 mRNA	CTD	PMID:27188386

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)
EMC3	Human	protein insertion into ER membrane by stop-transfer membrane-anchor sequence	involved_in	IMP		150520179	PMID:29809151 and PMID:30415835	UniProt	PMID:29809151 and PMID:30415835
EMC3	Human	protein insertion into ER membrane by stop-transfer membrane-anchor sequence	involved_in	IDA		150520179	PMID:29242231	ComplexPortal	PMID:29242231
EMC3	Human	tail-anchored membrane protein insertion into ER membrane	involved_in	IDA		150520179	PMID:29242231	ComplexPortal	PMID:29242231

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)
EMC3	Human	EMC complex	part_of	ISS	ComplexPortal:CPX-5848	150520179		ComplexPortal	GO_REF:0000114
EMC3	Human	EMC complex	part_of	IBA	FB:FBgn0032292 more ...	150520179		GO_Central	GO_REF:0000033
EMC3	Human	EMC complex	part_of	IDA		150520179	PMID:22119785	UniProt	PMID:22119785
EMC3	Human	EMC complex	part_of	IPI		150520179	PMID:32439656	ComplexPortal	PMID:32439656
EMC3	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
EMC3	Human	endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0097	150520179		UniProt	GO_REF:0000044
EMC3	Human	endoplasmic reticulum membrane	located_in	NAS		150520179	PMID:29242231	ComplexPortal	PMID:29242231
EMC3	Human	endoplasmic reticulum membrane	located_in	IDA		150520179	PMID:32439656	UniProt	PMID:32439656
EMC3	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
EMC3	Human	membrane	located_in	IDA		150520179	PMID:22119785	UniProt	PMID:22119785
EMC3	Human	membrane	located_in	IEA	InterPro:IPR002809 and InterPro:IPR008568	150520179		InterPro	GO_REF:0000002

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)
EMC3	Human	membrane insertase activity	contributes_to	IMP		150520179	PMID:29809151 and PMID:30415835	UniProt	PMID:29809151 and PMID:30415835
EMC3	Human	protein binding	enables	IPI	UniProtKB:Q15006	150520179	PMID:22119785 more ...	IntAct	PMID:22119785 more ...
EMC3	Human	protein binding	enables	IPI	UniProtKB:Q13126	150520179	PMID:32296183	IntAct	PMID:32296183

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
EMC3	Human	Generalized myoclonic-atonic seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure	ClinVar	PMID:25865495 more ...

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:8125298	PMID:8889548	PMID:10931946	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16196087	PMID:16344560	PMID:16751776	PMID:17207965	PMID:19797678	PMID:21139048
PMID:21873635	PMID:21963094	PMID:22119785	PMID:22268729	PMID:23000965	PMID:24711643	PMID:24797263	PMID:26186194	PMID:26496610	PMID:26638075	PMID:27342126	PMID:27880917
PMID:28366632	PMID:28514442	PMID:28515276	PMID:29180619	PMID:29242231	PMID:29395067	PMID:29568061	PMID:29809151	PMID:30415835	PMID:30833792	PMID:31056421	PMID:31073040
PMID:31091453	PMID:31266804	PMID:31536960	PMID:31732153	PMID:31871319	PMID:32296183	PMID:32439656	PMID:32628020	PMID:32877691	PMID:33845483	PMID:33957083	PMID:33961781
PMID:34226595	PMID:34373451	PMID:34432599	PMID:34709727	PMID:35271311	PMID:35439318	PMID:35696571	PMID:36215168	PMID:36604567	PMID:36610398	PMID:37031316	PMID:37317656
PMID:37788672	PMID:37827155	PMID:37931956	PMID:38113892	PMID:38569033	PMID:39358380

EMC3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	3	9,962,682 - 10,011,118 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	3	9,962,682 - 10,011,202 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	3	10,004,366 - 10,052,802 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	3	9,980,636 - 10,003,524 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	3	9,941,078 - 9,963,960 (-)	NCBI		Celera
Cytogenetic Map	3	p25.3	NCBI
HuRef	3	9,941,969 - 9,964,880 (-)	NCBI		HuRef
CHM1_1	3	9,955,806 - 9,978,657 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	3	9,954,666 - 10,003,118 (-)	NCBI		T2T-CHM13v2.0

Emc3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	113,491,848 - 113,508,599 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	113,491,835 - 113,508,613 (-)	Ensembl		GRCm39 Ensembl
GRCm38	6	113,514,887 - 113,531,638 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	113,514,874 - 113,531,652 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	113,464,881 - 113,481,632 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	113,480,664 - 113,497,415 (-)	NCBI		MGSCv36	mm8
Celera	6	115,341,814 - 115,358,566 (-)	NCBI		Celera
Cytogenetic Map	6	E3	NCBI
cM Map	6	52.78	NCBI

Emc3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	148,218,686 - 148,234,595 (-)	NCBI		GRCr8
mRatBN7.2	4	146,663,065 - 146,678,976 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	146,663,067 - 146,679,029 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	152,046,999 - 152,062,905 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	147,827,842 - 147,843,748 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	146,450,070 - 146,465,971 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	145,471,466 - 145,487,375 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	145,471,454 - 145,487,426 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	208,768,761 - 208,784,670 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	149,405,742 - 149,422,064 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	149,650,582 - 149,666,905 (-)	NCBI
Celera	4	135,219,057 - 135,234,911 (-)	NCBI		Celera
Cytogenetic Map	4	q42	NCBI

Emc3
(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_004955561	1,442,953 - 1,459,988 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955561	1,442,953 - 1,459,988 (-)	NCBI	ChiLan1.0	ChiLan1.0

EMC3
(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	2	9,966,977 - 9,991,531 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	3	9,971,736 - 9,996,281 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	3	9,907,446 - 9,932,140 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	3	10,256,276 - 10,280,626 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	3	10,256,276 - 10,280,626 (-)	Ensembl	panpan1.1		panPan2

EMC3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	8,297,263 - 8,316,405 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	8,297,274 - 8,315,426 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	8,330,938 - 8,350,080 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	8,326,533 - 8,345,685 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	8,326,557 - 8,348,104 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	8,048,542 - 8,067,946 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	8,394,152 - 8,413,508 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	8,367,435 - 8,386,582 (+)	NCBI		UU_Cfam_GSD_1.0

Emc3
(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_024404942	15,669,799 - 15,689,167 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936602	3,220,253 - 3,240,050 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936602	3,220,545 - 3,239,913 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

EMC3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	13	66,217,970 - 66,241,935 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	13	66,221,844 - 66,241,963 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	13	73,293,946 - 73,314,056 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

EMC3
(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	22	45,990,708 - 46,015,697 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	22	45,987,731 - 46,015,712 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666041	120,546,380 - 120,572,226 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Emc3
(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_004624731	4,557,842 - 4,577,602 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624731	4,556,481 - 4,577,612 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in EMC3
17 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	copy number loss	See cases [RCV000051447]	Chr3:52266..11089569 [GRCh38] Chr3:93949..11131255 [GRCh37] Chr3:68949..11106255 [NCBI36] Chr3:3p26.3-25.3	pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:8581778-12015238)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051480]\|See cases [RCV000051480]	Chr3:8581778..12015238 [GRCh38] Chr3:8623464..12056738 [GRCh37] Chr3:8598464..12031738 [NCBI36] Chr3:3p25.3-25.2	pathogenic
GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	copy number loss	See cases [RCV000051482]	Chr3:9654297..10228687 [GRCh38] Chr3:9695981..10270371 [GRCh37] Chr3:9670981..10245371 [NCBI36] Chr3:3p25.3	pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	copy number gain	See cases [RCV000051097]	Chr3:52266..37148076 [GRCh38] Chr3:93949..37189567 [GRCh37] Chr3:68949..37164571 [NCBI36] Chr3:3p26.3-22.2	pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3	copy number gain	See cases [RCV000051690]	Chr3:52066..20280127 [GRCh38] Chr3:93749..20321619 [GRCh37] Chr3:68749..20296623 [NCBI36] Chr3:3p26.3-24.3	pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]\|See cases [RCV000051718]	Chr3:52266..29248782 [GRCh38] Chr3:93949..29290273 [GRCh37] Chr3:68949..29265277 [NCBI36] Chr3:3p26.3-24.1	pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	copy number gain	See cases [RCV000051719]	Chr3:63843..19510600 [GRCh38] Chr3:105526..19552092 [GRCh37] Chr3:80526..19527096 [NCBI36] Chr3:3p26.3-24.3	pathogenic
GRCh38/hg38 3p25.3(chr3:9624696-10039318)x1	copy number loss	See cases [RCV000133641]	Chr3:9624696..10039318 [GRCh38] Chr3:9666380..10081002 [GRCh37] Chr3:9641380..10056002 [NCBI36] Chr3:3p25.3	uncertain significance
GRCh38/hg38 3p25.3(chr3:9896061-10220962)x1	copy number loss	See cases [RCV000134249]	Chr3:9896061..10220962 [GRCh38] Chr3:9937745..10262646 [GRCh37] Chr3:9912745..10237646 [NCBI36] Chr3:3p25.3	pathogenic
GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	copy number gain	See cases [RCV000135641]	Chr3:8038727..11240931 [GRCh38] Chr3:8080414..11282617 [GRCh37] Chr3:8055414..11257617 [NCBI36] Chr3:3p26.1-25.3	likely pathogenic
GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	copy number loss	See cases [RCV000137433]	Chr3:9394874..11690612 [GRCh38] Chr3:9436558..11732086 [GRCh37] Chr3:9411558..11707086 [NCBI36] Chr3:3p25.3-25.2	pathogenic
GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	copy number gain	See cases [RCV000137309]	Chr3:7975734..12636917 [GRCh38] Chr3:8017421..12678416 [GRCh37] Chr3:7992421..12653416 [NCBI36] Chr3:3p26.1-25.2	likely pathogenic
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	copy number loss	See cases [RCV000138143]	Chr3:32241..12681483 [GRCh38] Chr3:73914..12722982 [GRCh37] Chr3:48914..12697982 [NCBI36] Chr3:3p26.3-25.2	pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	copy number gain	See cases [RCV000138004]	Chr3:32241..30064208 [GRCh38] Chr3:73914..30105699 [GRCh37] Chr3:48914..30080703 [NCBI36] Chr3:3p26.3-24.1	pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	copy number gain	See cases [RCV000137941]	Chr3:32241..20334387 [GRCh38] Chr3:73914..20375879 [GRCh37] Chr3:48914..20350883 [NCBI36] Chr3:3p26.3-24.3	pathogenic
GRCh38/hg38 3p25.3(chr3:9875909-10572677)x1	copy number loss	See cases [RCV000137755]	Chr3:9875909..10572677 [GRCh38] Chr3:9917593..10614361 [GRCh37] Chr3:9892593..10589361 [NCBI36] Chr3:3p25.3	pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	copy number loss	See cases [RCV000138376]	Chr3:32241..11379835 [GRCh38] Chr3:73914..11421309 [GRCh37] Chr3:48914..11396309 [NCBI36] Chr3:3p26.3-25.3	pathogenic\|likely benign
GRCh38/hg38 3p25.3(chr3:8941623-10151752)x3	copy number gain	See cases [RCV000138535]	Chr3:8941623..10151752 [GRCh38] Chr3:8983307..10193436 [GRCh37] Chr3:8958307..10168436 [NCBI36] Chr3:3p25.3	likely benign\|uncertain significance
GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	copy number gain	See cases [RCV000138946]	Chr3:32241..13613818 [GRCh38] Chr3:73914..13655318 [GRCh37] Chr3:48914..13630319 [NCBI36] Chr3:3p26.3-25.1	pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	copy number gain	See cases [RCV000141810]	Chr3:53308..41381521 [GRCh38] Chr3:94991..41423012 [GRCh37] Chr3:69991..41398016 [NCBI36] Chr3:3p26.3-22.1	pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	copy number loss	See cases [RCV000141731]	Chr3:20213..11221602 [GRCh38] Chr3:61891..11263288 [GRCh37] Chr3:36891..11238288 [NCBI36] Chr3:3p26.3-25.3	pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	copy number loss	See cases [RCV000143325]	Chr3:32241..10323124 [GRCh38] Chr3:73914..10364808 [GRCh37] Chr3:48914..10339808 [NCBI36] Chr3:3p26.3-25.3	pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	copy number loss	See cases [RCV000143173]	Chr3:32241..10631310 [GRCh38] Chr3:73914..10672995 [GRCh37] Chr3:48914..10647995 [NCBI36] Chr3:3p26.3-25.3	pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	copy number gain	See cases [RCV000143766]	Chr3:7356110..14360442 [GRCh38] Chr3:7397797..14401942 [GRCh37] Chr3:7372797..14376946 [NCBI36] Chr3:3p26.1-25.1	pathogenic
GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	copy number loss	See cases [RCV000143706]	Chr3:688897..11051142 [GRCh38] Chr3:730581..11092828 [GRCh37] Chr3:705581..11067828 [NCBI36] Chr3:3p26.3-25.3	pathogenic
GRCh37/hg19 3p25.3(chr3:9405337-10168892)x3	copy number gain	See cases [RCV000240180]	Chr3:9405337..10168892 [GRCh37] Chr3:3p25.3	likely pathogenic
GRCh37/hg19 3p25.3-25.2(chr3:8922160-12338637)x1	copy number loss	See cases [RCV000240139]	Chr3:8922160..12338637 [GRCh37] Chr3:3p25.3-25.2	pathogenic
GRCh37/hg19 3p25.3(chr3:9666380-10028247)x1	copy number loss	See cases [RCV000446848]	Chr3:9666380..10028247 [GRCh37] Chr3:3p25.3	pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3	copy number gain	See cases [RCV000447247]	Chr3:61891..24432821 [GRCh37] Chr3:3p26.3-24.2	pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3	copy number gain	See cases [RCV000448528]	Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2	pathogenic
GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)x1	copy number loss	See cases [RCV000448839]	Chr3:6842555..10153209 [GRCh37] Chr3:3p26.1-25.3	pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	copy number gain	See cases [RCV000510429]	Chr3:61891..33958201 [GRCh37] Chr3:3p26.3-22.3	pathogenic
GRCh37/hg19 3p25.3(chr3:10001771-10199727)x4	copy number gain	See cases [RCV000511355]	Chr3:10001771..10199727 [GRCh37] Chr3:3p25.3	likely benign
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	copy number gain	See cases [RCV000511463]	Chr3:61891..37459464 [GRCh37] Chr3:3p26.3-22.2	pathogenic
GRCh37/hg19 3p26.3-25.2(chr3:61891-12575409)x1	copy number loss	See cases [RCV000511155]	Chr3:61891..12575409 [GRCh37] Chr3:3p26.3-25.2	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	copy number gain	See cases [RCV000511055]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	copy number gain	See cases [RCV000512358]	Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61891-10104842)x1	copy number loss	not provided [RCV000682180]	Chr3:61891..10104842 [GRCh37] Chr3:3p26.3-25.3	pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	copy number gain	not provided [RCV000682215]	Chr3:1897972..19519085 [GRCh37] Chr3:3p26.3-24.3	pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	copy number gain	not provided [RCV000682233]	Chr3:5173870..16760262 [GRCh37] Chr3:3p26.1-24.3	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3	copy number gain	not provided [RCV000742133]	Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29	pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3	copy number gain	not provided [RCV000742138]	Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29	pathogenic
Single allele	duplication	Neurodevelopmental disorder [RCV000787461]	Chr3:9453917..12015126 [GRCh37] Chr3:3p25.3-25.2	uncertain significance
GRCh37/hg19 3p26.3-25.3(chr3:61891-10287825)x1	copy number loss	not provided [RCV001007530]	Chr3:61891..10287825 [GRCh37] Chr3:3p26.3-25.3	pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:60931-10687964)x3	copy number gain	not provided [RCV002468435]	Chr3:60931..10687964 [GRCh37] Chr3:3p26.3-25.3	pathogenic
GRCh37/hg19 3p26.3-25.3(chr3:61892-11679509)x1	copy number loss	not provided [RCV002473616]	Chr3:61892..11679509 [GRCh37] Chr3:3p26.3-25.3	pathogenic
NC_000003.11:g.(?_9976103)_(10191669_?)del	deletion	Atrioventricular septal defect, susceptibility to, 2 [RCV001304135]	Chr3:9976103..10191669 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p25.3(chr3:9754611-10295828)	copy number gain	not specified [RCV002053329]	Chr3:9754611..10295828 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	copy number gain	not specified [RCV002053299]	Chr3:61891..24432821 [GRCh37] Chr3:3p26.3-24.2	pathogenic
GRCh37/hg19 3p26.1-25.3(chr3:6842555-10153209)	copy number loss	not specified [RCV002053327]	Chr3:6842555..10153209 [GRCh37] Chr3:3p26.1-25.3	pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	copy number gain	not specified [RCV002053300]	Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2	pathogenic
NC_000003.11:g.(?_7782024)_(11078652_?)dup	duplication	Atrioventricular septal defect, susceptibility to, 2 [RCV001875165]	Chr3:7782024..11078652 [GRCh37] Chr3:3p26.1-25.3	uncertain significance
NC_000003.11:g.(?_9908818)_(10191649_?)dup	duplication	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency [RCV001919133]\|Candidiasis, familial, 9 [RCV001923322]	Chr3:9908818..10191649 [GRCh37] Chr3:3p25.3	uncertain significance
NC_000003.11:g.(?_9908818)_(10085568_?)del	deletion	Candidiasis, familial, 9 [RCV003113760]	Chr3:9908818..10085568 [GRCh37] Chr3:3p25.3	uncertain significance
NM_001394674.1(EMC3):c.170G>A (p.Arg57Gln)	single nucleotide variant	not specified [RCV004319146]	Chr3:9977432 [GRCh38] Chr3:10019116 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p25.3(chr3:9908803-10265564)x3	copy number gain	not provided [RCV002472595]	Chr3:9908803..10265564 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p25.3-25.2(chr3:10024917-11917048)x1	copy number loss	not provided [RCV002472495]	Chr3:10024917..11917048 [GRCh37] Chr3:3p25.3-25.2	pathogenic
GRCh37/hg19 3p25.3(chr3:9754612-10295828)x3	copy number gain	not provided [RCV002472444]	Chr3:9754612..10295828 [GRCh37] Chr3:3p25.3	uncertain significance
NM_018447.4(EMC3):c.-242+3659C>G	single nucleotide variant	not specified [RCV004101685]	Chr3:10007364 [GRCh38] Chr3:10049048 [GRCh37] Chr3:3p25.3	uncertain significance
NM_018447.4(EMC3):c.-242+3401G>A	single nucleotide variant	not specified [RCV004077408]	Chr3:10007622 [GRCh38] Chr3:10049306 [GRCh37] Chr3:3p25.3	uncertain significance
NM_001394674.1(EMC3):c.129G>C (p.Lys43Asn)	single nucleotide variant	not specified [RCV004181800]	Chr3:9986533 [GRCh38] Chr3:10028217 [GRCh37] Chr3:3p25.3	uncertain significance
NM_001394674.1(EMC3):c.115C>G (p.Gln39Glu)	single nucleotide variant	not specified [RCV004107312]	Chr3:9986547 [GRCh38] Chr3:10028231 [GRCh37] Chr3:3p25.3	uncertain significance
NM_001394674.1(EMC3):c.121G>C (p.Asp41His)	single nucleotide variant	not specified [RCV004116197]	Chr3:9986541 [GRCh38] Chr3:10028225 [GRCh37] Chr3:3p25.3	uncertain significance
NM_001394674.1(EMC3):c.538C>T (p.Arg180Trp)	single nucleotide variant	not specified [RCV004160983]	Chr3:9970618 [GRCh38] Chr3:10012302 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	copy number gain	not provided [RCV003484107]	Chr3:310747..28297447 [GRCh37] Chr3:3p26.3-24.1	pathogenic
GRCh37/hg19 3p25.3(chr3:9655252-10332544)x3	copy number gain	not provided [RCV003484118]	Chr3:9655252..10332544 [GRCh37] Chr3:3p25.3	uncertain significance
NM_001394674.1(EMC3):c.744C>T (p.Phe248=)	single nucleotide variant	not provided [RCV003433413]	Chr3:9964111 [GRCh38] Chr3:10005795 [GRCh37] Chr3:3p25.3	likely benign
GRCh37/hg19 3p26.1-25.3(chr3:6306331-11468530)x1	copy number loss	not specified [RCV003986402]	Chr3:6306331..11468530 [GRCh37] Chr3:3p26.1-25.3	pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	copy number gain	not specified [RCV003986437]	Chr3:61891..33946644 [GRCh37] Chr3:3p26.3-22.3	pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	copy number gain	not provided [RCV004577500]	Chr3:60000..34461438 [GRCh37] Chr3:3p26.3-22.3	pathogenic
NM_001394674.1(EMC3):c.634G>A (p.Ala212Thr)	single nucleotide variant	not specified [RCV004382443]	Chr3:9969742 [GRCh38] Chr3:10011426 [GRCh37] Chr3:3p25.3	uncertain significance
NC_000003.11:g.(?_9703931)_(11078652_?)del	deletion	Epilepsy with myoclonic atonic seizures [RCV005059562]	Chr3:9703931..11078652 [GRCh37] Chr3:3p25.3	pathogenic
NC_000003.11:g.(?_9470623)_(11078652_?)dup	duplication	not provided [RCV004582249]	Chr3:9470623..11078652 [GRCh37] Chr3:3p25.3	uncertain significance
NM_001394674.1(EMC3):c.524A>G (p.Asn175Ser)	single nucleotide variant	not specified [RCV004624866]	Chr3:9970632 [GRCh38] Chr3:10012316 [GRCh37] Chr3:3p25.3	uncertain significance
NM_001394674.1(EMC3):c.623T>C (p.Met208Thr)	single nucleotide variant	not specified [RCV004624867]	Chr3:9969753 [GRCh38] Chr3:10011437 [GRCh37] Chr3:3p25.3	uncertain significance
NM_001394674.1(EMC3):c.121G>A (p.Asp41Asn)	single nucleotide variant	not specified [RCV004624868]	Chr3:9986541 [GRCh38] Chr3:10028225 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p25.3(chr3:9974258-11078781)x1	copy number loss	Epilepsy with myoclonic atonic seizures [RCV005059765]	Chr3:9974258..11078781 [GRCh37] Chr3:3p25.3	likely pathogenic
NM_001394674.1(EMC3):c.28T>G (p.Ser10Ala)	single nucleotide variant	not specified [RCV004912669]	Chr3:9986634 [GRCh38] Chr3:10028318 [GRCh37] Chr3:3p25.3	uncertain significance
GRCh37/hg19 3p25.3(chr3:9503081-10315429)x3	copy number gain	not provided [RCV004819459]	Chr3:9503081..10315429 [GRCh37] Chr3:3p25.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	961
Count of miRNA genes:	663
Interacting mature miRNAs:	747
Transcripts:	ENST00000245046, ENST00000429759, ENST00000470827, ENST00000487465, ENST00000497557
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597521023	GWAS1617097_H	lean body mass QTL GWAS1617097 (human)		3e-19	body lean mass (VT:0010483)	total body lean mass (CMO:0003950)	3	9994984	9994988	Human
597457502	GWAS1553576_H	body mass index QTL GWAS1553576 (human)		7e-10	body mass index	body mass index (BMI) (CMO:0000105)	3	9994984	9994988	Human
597085394	GWAS1181468_H	body mass index QTL GWAS1181468 (human)		2e-08	body mass index	body mass index (BMI) (CMO:0000105)	3	9986040	9986041	Human
597317346	GWAS1413420_H	body mass index QTL GWAS1413420 (human)		7e-09	body mass index	body mass index (BMI) (CMO:0000105)	3	9975845	9975846	Human
597300706	GWAS1396780_H	cysteine-rich with EGF-like domain protein 1 measurement QTL GWAS1396780 (human)		1e-162	cysteine-rich with EGF-like domain protein 1 measurement		3	9978840	9978841	Human
2316345	GLUCO224_H	Glucose level QTL 224 (human)	1.27	0.008	Glucose level		3	1	21543441	Human
597175058	GWAS1271132_H	body mass index QTL GWAS1271132 (human)		7e-09	body mass index	body mass index (BMI) (CMO:0000105)	3	9986040	9986041	Human
597485248	GWAS1581322_H	body weight QTL GWAS1581322 (human)		2e-20	body mass (VT:0001259)	body weight (CMO:0000012)	3	9994984	9994988	Human
597442769	GWAS1538843_H	cysteine-rich with EGF-like domain protein 1 measurement QTL GWAS1538843 (human)		1e-87	cysteine-rich with EGF-like domain protein 1 measurement		3	9996419	9996420	Human
597030555	GWAS1126629_H	body mass index QTL GWAS1126629 (human)		3e-09	body mass index	body mass index (BMI) (CMO:0000105)	3	9986040	9986041	Human
596966427	GWAS1085946_H	body mass index QTL GWAS1085946 (human)		7e-09	body mass index		3	9975845	9975846	Human
596954155	GWAS1073674_H	body mass index QTL GWAS1073674 (human)		7e-10	body mass index		3	9994984	9994988	Human

D3S3950

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	10,005,656 - 10,005,881	UniSTS	GRCh37
Build 36	3	9,980,656 - 9,980,881	RGD	NCBI36
Celera	3	9,941,098 - 9,941,323	RGD
Cytogenetic Map	3	p25.3	UniSTS
HuRef	3	9,941,989 - 9,942,214	UniSTS
TNG Radiation Hybrid Map	3	6097.0	UniSTS
GeneMap99-GB4 RH Map	3	49.65	UniSTS
Whitehead-RH Map	3	56.8	UniSTS
NCBI RH Map	3	132.9	UniSTS

D3S2873E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	3	10,005,735 - 10,005,862	UniSTS	GRCh37
Build 36	3	9,980,735 - 9,980,862	RGD	NCBI36
Celera	3	9,941,177 - 9,941,304	RGD
Cytogenetic Map	3	p25.3	UniSTS
GeneMap99-GB4 RH Map	3	57.15	UniSTS
NCBI RH Map	3	132.9	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	2252	4972	1726	2351	6	624	1951	465	2269	7305	6471	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NM_001394674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_148535	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005265321	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054347252	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC018809	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC022007	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF157321	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK172843	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK222953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC010883	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC022807	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM993642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU739600	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX113681	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA310843	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471055	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ834268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA359966	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB041952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ596123	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY006276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY241187	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000245046 ⟹ ENSP00000245046

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	9,962,682 - 9,986,841 (-)	Ensembl

Ensembl Acc Id:

ENST00000429759 ⟹ ENSP00000408803

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	9,973,506 - 9,986,682 (-)	Ensembl

Ensembl Acc Id:

ENST00000470827 ⟹ ENSP00000474771

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	9,963,606 - 10,011,116 (-)	Ensembl

Ensembl Acc Id:

ENST00000487465

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	9,968,644 - 9,986,838 (-)	Ensembl

Ensembl Acc Id:

ENST00000497557

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	9,963,960 - 9,978,304 (-)	Ensembl

Ensembl Acc Id:

ENST00000685575 ⟹ ENSP00000508880

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	9,963,967 - 10,011,202 (-)	Ensembl

Ensembl Acc Id:

ENST00000686016 ⟹ ENSP00000508803

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	9,963,592 - 10,011,183 (-)	Ensembl

Ensembl Acc Id:

ENST00000693754 ⟹ ENSP00000509443

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	3	9,963,730 - 9,986,843 (-)	Ensembl

RefSeq Acc Id:

NM_001394674 ⟹ NP_001381603

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	9,962,682 - 9,986,841 (-)	NCBI
T2T-CHM13v2.0	3	9,954,666 - 9,978,826 (-)	NCBI

Sequence:

show sequence

AAGTGGAAGACCAGGCAGCCCAGCTGAAGGCAGTAAGCTCGGCTCACAGTCGCAGGAGAGTTCTGGGGTACACGGGCAAAGGGGCTTGAGAAGGCCCGGAGGCGAAGCCGAAGAGAAGCAACTGTGCC
CCGGAGAAGAGAAGCTCGCCCATTCCAGACTGGGAACCAGCTTTCAGTGAAGATGGCAGGGCCAGAACTGTTGCTCGACTCCAACATCCGCCTCTGGGTGGTCCTACCCATCGTTATCATCACTTTCT
TCGTAGGCATGATCCGCCACTACGTGTCCATCCTGCTGCAGAGCGACAAGAAGCTCACCCAGGAACAAGTATCTGACAGTCAAGTCCTAATTCGAAGCAGAGTCCTCAGGGAAAATGGAAAATACATT
CCCAAACAGTCTTTCTTGACACGAAAATATTATTTCAACAACCCAGAGGATGGATTTTTCAAAAAAACTAAACGGAAGGTAGTGCCACCTTCTCCTATGACTGATCCTACTATGTTGACAGACATGAT
GAAAGGGAATGTAACAAATGTCCTCCCTATGATTCTTATTGGTGGATGGATCAACATGACATTCTCAGGCTTTGTCACAACCAAGGTCCCATTTCCACTGACCCTCCGTTTTAAGCCTATGTTACAGC
AAGGAATCGAGCTACTCACATTAGATGCATCCTGGGTGAGTTCTGCATCCTGGTACTTCCTCAATGTATTTGGGCTTCGGAGCATTTACTCTCTGATTCTGGGCCAAGATAATGCCGCTGACCAATCA
CGAATGATGCAGGAGCAGATGACGGGAGCAGCCATGGCCATGCCCGCAGACACAAACAAAGCTTTCAAGACAGAGTGGGAAGCTTTGGAGCTGACGGATCACCAGTGGGCACTAGATGATGTCGAAGA
AGAGCTCATGGCCAAAGACCTCCACTTCGAAGGCATGTTCAAAAAGGAATTACAGACCTCTATTTTTTGAAGACCGAGCAGGGATTAGCTGTGTCAGGAACTTGGAGTTGCACTTAACCTTGTAACTT
TGTTTGGAGCTGGCACCTCTTGAAATAAAAAGGAGGATGCACGAGCTGGCAGGCATGCAGCAAGGCTTGTTCTTGTCTGGGCTGGGTTCCCCTTTATGTTTGAAACTAGAGGAAATAGGAGTATGCTG
GGCAACTTGTTATTTTTAAAATGTTGTAAATGTTCCTTCTGGTGACTCTAGTAATGAAAGTCAGAGAAAGGGGGAAACCTCAGGCTACTGATAATATATAAAATCTTGGCCAGGCGCAGTGGCTCACG
CCTGTAATCCCAGGATTTTGGGAGGCTGAGGCGGGTGGGTCACGAGATCAGGAGTTCAAGATCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGG
TGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAGAACTGCTTAAACCTAGGAGGCGGAGGATGCAGTGAGCTGACATCGTGCCACTGCGCTCCAGCCTGGGCGACAGAGCAAAACTC
CATCTGAAAAAAAAAAAAAAATATATATATATATATATATATATCTATCTTAGCAGAAGCCCAGTCTTCGAAGGAAGCATTGTTAATTATAGCTAATGATTATGTGCAGTCAGCCTGACATCTAGCCA
CAGTAAACTCCTGTTTTCTTGGGATCCAAACACCCTGTGTTTTACCATTAGTTTTGTTAGTATTGTTAACTTTCTTTACACAAGTAAACCATTTCCACTACCAAAGGTTTAGAAACTATGGATGAACA
AAATGAATCTCCCTGTTCATTTTGAGCCTACATAGACATAGAGACCAAATATGTCAAAACCTTATTCAAATAAACTCTCTTCAGAGTGAATACCCAGGGTCAGGACAGACTCAGCAAACCTTCTATAT
CACTTAATTCTGCCCAGTGAAAATCAGTGACCCTGAGGCACTGCCAGATTCTAAAGTGCCTTTGGGATCATCAGAGACTGTCTATAAATAATGCAAAATCTTGATCTGGATGTCAGTGTATCAAATCT
TATCAAATCCATTGACAAATCAGTGGTGCTATACTGGAAATGGCTACTCCTTTGGATGAAGGACCTCATTTCCCAGTTGCTTGGAACAAAAGAGAATTTACATATTGCTGTAAGAAGGGAGAGACGGC
AGTTGTTGGTAGACACACAGATAAGGGTGCCCAAGAATAATTCTGTCTGGATTAAAGGTCCCAGGGAAGTGACGGTGCCATTTCTGTACCAAGAGGTGAATATAATTTGCATGTTGAGTGCAGTAATT
AAGAACAAACGACTCGACTCCACAAATTAAACCGTCCTGTTTTCTCTTC

hide sequence

RefSeq Acc Id:

NM_018447 ⟹ NP_060917

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	9,962,682 - 10,011,118 (-)	NCBI
GRCh37	3	10,005,636 - 10,029,146 (-)	NCBI
Build 36	3	9,980,636 - 10,003,524 (-)	NCBI Archive
Celera	3	9,941,078 - 9,963,960 (-)	RGD
HuRef	3	9,941,969 - 9,964,880 (-)	ENTREZGENE
CHM1_1	3	9,954,525 - 10,003,069 (-)	NCBI
T2T-CHM13v2.0	3	9,954,666 - 10,003,118 (-)	NCBI

Sequence:

show sequence

CTTCCAGGCGCTGCTGCCCCAACACAGGCGGGCACTCTCTGCGGGTCCCGCGGCTCCCGCGGCT
TCCGGCCCACTCAGCGCCTCCAGAGGCCTCAGGCCCGACGCCGCTCTGACGCCACTGAGGTGCGCCACGACGTGACGTCAACGTTCGCGCCGGAAGTGGAAGACCAGGCAGCCCAGCTGAAGGCAGTA
AGCTCGGCTCACAGTCGCAGGAGAGTTCTGGGGTACACGGGCAAAGGGGCTTGAGAAGGCCCGGAGGCGAAGCCGAAGAGAAGCAACTGTGCCCCGGAGAAGAGAAGCTCGCCCATTCCAGACTGGGA
ACCAGCTTTCAGTGAAGATGGCAGGGCCAGAACTGTTGCTCGACTCCAACATCCGCCTCTGGGTGGTCCTACCCATCGTTATCATCACTTTCTTCGTAGGCATGATCCGCCACTACGTGTCCATCCTG
CTGCAGAGCGACAAGAAGCTCACCCAGGAACAAGTATCTGACAGTCAAGTCCTAATTCGAAGCAGAGTCCTCAGGGAAAATGGAAAATACATTCCCAAACAGTCTTTCTTGACACGAAAATATTATTT
CAACAACCCAGAGGATGGATTTTTCAAAAAAACTAAACGGAAGGTAGTGCCACCTTCTCCTATGACTGATCCTACTATGTTGACAGACATGATGAAAGGGAATGTAACAAATGTCCTCCCTATGATTC
TTATTGGTGGATGGATCAACATGACATTCTCAGGCTTTGTCACAACCAAGGTCCCATTTCCACTGACCCTCCGTTTTAAGCCTATGTTACAGCAAGGAATCGAGCTACTCACATTAGATGCATCCTGG
GTGAGTTCTGCATCCTGGTACTTCCTCAATGTATTTGGGCTTCGGAGCATTTACTCTCTGATTCTGGGCCAAGATAATGCCGCTGACCAATCACGAATGATGCAGGAGCAGATGACGGGAGCAGCCAT
GGCCATGCCCGCAGACACAAACAAAGCTTTCAAGACAGAGTGGGAAGCTTTGGAGCTGACGGATCACCAGTGGGCACTAGATGATGTCGAAGAAGAGCTCATGGCCAAAGACCTCCACTTCGAAGGCA
TGTTCAAAAAGGAATTACAGACCTCTATTTTTTGAAGACCGAGCAGGGATTAGCTGTGTCAGGAACTTGGAGTTGCACTTAACCTTGTAACTTTGTTTGGAGCTGGCACCTCTTGAAATAAAAAGGAG
GATGCACGAGCTGGCAGGCATGCAGCAAGGCTTGTTCTTGTCTGGGCTGGGTTCCCCTTTATGTTTGAAACTAGAGGAAATAGGAGTATGCTGGGCAACTTGTTATTTTTAAAATGTTGTAAATGTTC
CTTCTGGTGACTCTAGTAATGAAAGTCAGAGAAAGGGGGAAACCTCAGGCTACTGATAATATATAAAATCTTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGGATTTTGGGAGGCTGAGGCGGG
TGGGTCACGAGATCAGGAGTTCAAGATCAGCCTGGCCAAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGC
TGAGGCAGAGAACTGCTTAAACCTAGGAGGCGGAGGATGCAGTGAGCTGACATCGTGCCACTGCGCTCCAGCCTGGGCGACAGAGCAAAACTCCATCTGAAAAAAAAAAAAAAATATATATATATATA
TATATATATCTATCTTAGCAGAAGCCCAGTCTTCGAAGGAAGCATTGTTAATTATAGCTAATGATTATGTGCAGTCAGCCTGACATCTAGCCACAGTAAACTCCTGTTTTCTTGGGATCCAAACACCC
TGTGTTTTACCATTAGTTTTGTTAGTATTGTTAACTTTCTTTACACAAGTAAACCATTTCCACTACCAAAGGTTTAGAAACTATGGATGAACAAAATGAATCTCCCTGTTCATTTTGAGCCTACATAG
ACATAGAGACCAAATATGTCAAAACCTTATTCAAATAAACTCTCTTCAGAGTGAATACCCAGGGTCAGGACAGACTCAGCAAACCTTCTATATCACTTAATTCTGCCCAGTGAAAATCAGTGACCCTG
AGGCACTGCCAGATTCTAAAGTGCCTTTGGGATCATCAGAGACTGTCTATAAATAATGCAAAATCTTGATCTGGATGTCAGTGTATCAAATCTTATCAAATCCATTGACAAATCAGTGGTGCTATACT
GGAAATGGCTACTCCTTTGGATGAAGGACCTCATTTCCCAGTTGCTTGGAACAAAAGAGAATTTACATATTGCTGTAAGAAGGGAGAGACGGCAGTTGTTGGTAGACACACAGATAAGGGTGCCCAAG
AATAATTCTGTCTGGATTAAAGGTCCCAGGGAAGTGACGGTGCCATTTCTGTACCAAGAGGTGAATATAATTTGCATGTTGAGTGCAGTAATTAAGAACAAACGACTCGACTCCACAAATTAAACCGT
CCTGTTTTCTCTTC

hide sequence

RefSeq Acc Id:

NR_148535

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	10,006,417 - 10,011,118 (-)	NCBI
T2T-CHM13v2.0	3	9,998,417 - 10,003,118 (-)	NCBI

Sequence:

show sequence

CTTCCAGGCGCTGCTGCCCCAACACAGGCGGGCACTCTCTGCGGGTCCCGCGGCTCCCGCGGCT
TCCGGCCCACTCAGCGCCTCCAGAGGCCTCAGATTTCGCTGGGGATGCTACTTGATCTCTCTTCAGCCTCAGTTTCCTCACCTGGACAGTGGAGCTGAACCCACCCCCCACTATCTGACCCTGCTCTC
TGGGCTGTCTTTTGGGAACCCGCCCTGCTGAGGCCTGCTCCCCACCCTCCATGGCTGTCAGCCCCCCAGGAGAAGAATGTCTGCCATATGGAGGCTGCTGGCAGCAAAGGGAGATGAACAAGCCAAGG
TTGCCCGGCCTGCATGCCGGCCCAGGGCTGCTGCTGTGTCTTGCCATCAACCCTCCCCTGACACCCAGGATGCCTGCCTCACCCAGAAGCACTCCTACGTCAGGCCTCTGAGGGGGAGCGCTTCATGC
CACTGTTATCAAAAGAAGAAACCATCGAAGCAGAAAGGCCAATGCCACACTAGACAGCCAGGAGCCCAGCAGAACAAGTGGCCCCCTAAGGCACTTTGGGGACCACACCCCGCCACTGACCCCAGCAC
AGTCTGGTTCCCAGGGCTTCAGGATCCTCCTGGGGACCTCTCAGCATGATTGACACAGGCAGACGGGACCTGAAGGGGCTGCTGGTCCTTCTGAAAATGTTCACCAGGTAGTGTGAGTGTGGGGAAGC
CATGAACAATGTGTGGGACTCTACCCTGCACCTGCTCAGAGCCTCAGCCCTTCAGAGCCACTACTAATGATTTGCTGTGGGTGGGGTCACCCTGATACTTCTCTGAGGTGGCTTTTTCTTGCAGTTTT
TCTGAGTAACTGACAGGAATCCTTGACTGCATGCCGCCTAAACTAGGGTGTGCACAGCCCTCGTTCTGTGCAAAGAGGGTGCAAAGCAGCAGAGTGTCTGTGACCCATTTGCCACCTAATGTTACTAC
AAGATTTGCAAGAACCGGTCACTTATCAGTAACCATTTTTATTTAAAAAGATAAAATAGAGCTTTGCAGGAAAGTGCTGCAGGCTCCCACGTTGCCGGGCAGACGACAACCTGGGCGCCTCGCCCAGC
TCCTCCCCACAGCCATTGGCATCCACTGTCAGGTTTCAATGTTCTTGGACCTCAGGGCCTTCGTCCTCTCCAATCTAAATGCAGAGAGACATTTGACATGGACTCTCTCAGGTGTTTTGCAAAATGCA
ACACATTCTCATTGACTCTGGTCACTCTGCTGTGCACTACATGTCAAAACCTCTTCCTCCTCCCTGAGACTTTGGTCCTTTAACTGACAACCCCCCTCCCATTCCCTCCCTCTGCCACTCTCTGACCC
CTGGTCACCATCGATCTACTTGCTACTTCTATGGGGTCAACTTGTTTAGATCAACACTTCTGGGACCTCACGTGGAATTGGTCTCTCTGAGGTAGTGGAGATGCTAAGTAGTGGGATTTCCTCATTCC
ACATTGTACCCCATGAATGAATACAAGCATGATTTGCCAATTGAAGCAATACAATAAAGACAGAAGAAATGTAAAATGCA

hide sequence

RefSeq Acc Id:

XM_005265321 ⟹ XP_005265378

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	9,969,521 - 10,011,118 (-)	NCBI
GRCh37	3	10,005,636 - 10,029,146 (-)	NCBI

Sequence:

show sequence

TCCAGGCGCTGCTGCCCCAACACAGGCGGGCACTCTCTGCGGGTCCCGCGGCTCCCGCGGCTTCCGGCCCACTCAGCGCCTCCAGAGGCCTCAGGCCCGACGCCGCTCTGACGCCACTGAGGTGCGCC
ACGACGTGACGTCAACGTTCGCGCCGGAAGTGGAAGACCAGGCAGCCCAGCTGAAGGCAGTAAGCTCGGCTCACAGTCGCAGGAGAGTTCTGGGGTACACGGGCAAAGGGGCTTGAGAAGGCCCGGAG
GCGAAGCCGAAGAGAAGCAACTGTGCCCCGGAGAAGAGAAGCTCGCCCATTCCAGACTGGGAACCAGCTTTCAGTGAAGATGGCAGGGCCAGAACTGTTGCTCGACTCCAACATCCGCCTCTGGGTGG
TCCTACCCATCGTTATCATCACTTTCTTCGTAGGCATGATCCGCCACTACGTGTCCATCCTGCTGCAGAGCGACAAGAAGCTCACCCAGGAACAAGTATCTGACAGTCAAGTCCTAATTCGAAGCAGA
GTCCTCAGGGAAAATGGAAAATACATTCCCAAACAGTCTTTCTTGACACGAAAATATTATTTCAACAACCCAGAGGATGGATTTTTCAAAAAAACTAAACGGAAGGTAGTGCCACCTTCTCCTATGAC
TGATCCTACTATGTTGACAGACATGATGAAAGGGAATGTAACAAATGTCCTCCCTATGATTCTTATTGGTGGATGGATCAACATGACATTCTCAGGCTTTGTCACAACCAAGGTCCCATTTCCACTGA
CCCTCCGTTTTAAGCCTATGTTACAGCAAGGAATCGAGCTACTCACATTAGATGCATCCTGGGTGAGTTCTGCATCCTGGTACTTCCTCAATGTATTTGGGCTTCGGAGCATTTACTCTCTGATTCTG
GGCCAAGATAATGCCGCTGACCAATCACGAATGATGCAGGAGCAGATGACGGGAGCAGCCATGGCCATGCCCGCAGACACAAACAAAGCTTTCAAGGTATACTCCTTCACCTTTCAAAGCTGCAGCAA
TGCTCTGAAAGGTGTTACCAAGAGCTATTTTAAAAATAGCTTCCTTGAAGGGAGTGTTGTGTGGTTCCATCGTTTTAATTTAAACTTAGTAAAAACATAGTTTACACGTCTCTCTTTCCTGAGACAGA
ATCATCTATTAAGTAAATGGAAATTCTTGGTGCTTTTA

hide sequence

RefSeq Acc Id:

XM_054347252 ⟹ XP_054203227

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	3	9,961,507 - 10,003,118 (-)	NCBI


Protein RefSeqs	NP_001381603	(Get FASTA)	NCBI Sequence Viewer
	NP_060917	(Get FASTA)	NCBI Sequence Viewer
	XP_005265378	(Get FASTA)	NCBI Sequence Viewer
	XP_054203227	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF67487	(Get FASTA)	NCBI Sequence Viewer
	AAH22807	(Get FASTA)	NCBI Sequence Viewer
	BAD18807	(Get FASTA)	NCBI Sequence Viewer
	BAD96673	(Get FASTA)	NCBI Sequence Viewer
	BAG34946	(Get FASTA)	NCBI Sequence Viewer
	BAG51069	(Get FASTA)	NCBI Sequence Viewer
	CAH05349	(Get FASTA)	NCBI Sequence Viewer
	EAW64047	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000245046
	ENSP00000245046.2
	ENSP00000474771
	ENSP00000474771.2
GenBank Protein	Q9P0I2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_060917 ⟸ NM_018447

- UniProtKB:

Q53GH8 (UniProtKB/Swiss-Prot), B2R4Z9 (UniProtKB/Swiss-Prot), Q6ZMC2 (UniProtKB/Swiss-Prot), Q9P0I2 (UniProtKB/Swiss-Prot), A0A8I5KS41 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAGPELLLDSNIRLWVVLPIVIITFFVGMIRHYVSILLQSDKKLTQEQVSDSQVLIRSRVLRENGKYIPKQSFLTRKYYFNNPEDGFFKKTKRKVVPPSPMTDPTMLTDMMKGNVTNVLPMILIGGWI
NMTFSGFVTTKVPFPLTLRFKPMLQQGIELLTLDASWVSSASWYFLNVFGLRSIYSLILGQDNAADQSRMMQEQMTGAAMAMPADTNKAFKTEWEALELTDHQWALDDVEEELMAKDLHFEGMFKKEL
QTSIF

hide sequence

RefSeq Acc Id:

XP_005265378 ⟸ XM_005265321

- Peptide Label:

isoform X1

- Sequence:

show sequence

MAGPELLLDSNIRLWVVLPIVIITFFVGMIRHYVSILLQSDKKLTQEQVSDSQVLIRSRVLREN
GKYIPKQSFLTRKYYFNNPEDGFFKKTKRKVVPPSPMTDPTMLTDMMKGNVTNVLPMILIGGWINMTFSGFVTTKVPFPLTLRFKPMLQQGIELLTLDASWVSSASWYFLNVFGLRSIYSLILGQDNA
ADQSRMMQEQMTGAAMAMPADTNKAFKVYSFTFQSCSNALKGVTKSYFKNSFLEGSVVWFHRFNLNLVKT

hide sequence

Ensembl Acc Id:

ENSP00000408803 ⟸ ENST00000429759

Ensembl Acc Id:

ENSP00000245046 ⟸ ENST00000245046

Ensembl Acc Id:

ENSP00000474771 ⟸ ENST00000470827

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9P0I2-F1-model_v2	AlphaFold	Q9P0I2	1-261	view protein structure

RGD ID:

6863534

Promoter ID:

EPDNEW_H4932

Type:

initiation region

Name:

EMC3_1

Description:

ER membrane protein complex subunit 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H4933

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	9,986,837 - 9,986,897	EPDNEW

RGD ID:

6801804

Promoter ID:

HG_KWN:43671

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

OTTHUMT00000339887

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	9,995,511 - 9,996,011 (-)	MPROMDB

RGD ID:

6801803

Promoter ID:

HG_KWN:43672

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000250532, OTTHUMT00000339354, OTTHUMT00000339888

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	3	10,003,421 - 10,004,292 (-)	MPROMDB

RGD ID:

6863536

Promoter ID:

EPDNEW_H4933

Type:

initiation region

Name:

EMC3_2

Description:

ER membrane protein complex subunit 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H4932

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	3	10,011,235 - 10,011,295	EPDNEW

Database	Acc Id	Source(s)
COSMIC	EMC3	COSMIC
Ensembl Genes	ENSG00000125037	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000245046	ENTREZGENE
	ENST00000245046.7	UniProtKB/Swiss-Prot
	ENST00000470827	ENTREZGENE
	ENST00000470827.3	UniProtKB/Swiss-Prot
GTEx	ENSG00000125037	GTEx
HGNC ID	HGNC:23999	ENTREZGENE
Human Proteome Map	EMC3	Human Proteome Map
InterPro	EMC3	UniProtKB/Swiss-Prot
	EMC3/TMCO1	UniProtKB/Swiss-Prot
KEGG Report	hsa:55831	UniProtKB/Swiss-Prot
NCBI Gene	55831	ENTREZGENE
OMIM	620273	OMIM
PANTHER	ER MEMBRANE PROTEIN COMPLEX SUBUNIT 3	UniProtKB/Swiss-Prot
	PTHR13116	UniProtKB/Swiss-Prot
Pfam	EMC3_TMCO1	UniProtKB/Swiss-Prot
PharmGKB	PA142670762	PharmGKB
PIRSF	DUF850_TM_euk	UniProtKB/Swiss-Prot
SMART	DUF106	UniProtKB/Swiss-Prot
UniProt	A0A8I5KPL4_HUMAN	UniProtKB/TrEMBL
	A0A8I5KS41	ENTREZGENE, UniProtKB/TrEMBL
	A0A8I5KU67_HUMAN	UniProtKB/TrEMBL
	B2R4Z9	ENTREZGENE
	EMC3_HUMAN	UniProtKB/Swiss-Prot
	Q53GH8	ENTREZGENE
	Q6ZMC2	ENTREZGENE
	Q9P0I2	ENTREZGENE
	S4R3U9_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B2R4Z9	UniProtKB/Swiss-Prot
	Q53GH8	UniProtKB/Swiss-Prot
	Q6ZMC2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-05-29	EMC3	ER membrane protein complex subunit 3	TMEM111	transmembrane protein 111	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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