LRRC8E (leucine rich repeat containing 8 VRAC subunit E)

Gene: LRRC8E (leucine rich repeat containing 8 VRAC subunit E) Homo sapiens

Analyze

Symbol:

LRRC8E

Name:

leucine rich repeat containing 8 VRAC subunit E

RGD ID:

1604796

HGNC Page

HGNC:26272

Description:

Enables volume-sensitive anion channel activity. Involved in several processes, including cell volume homeostasis; monoatomic anion transmembrane transport; and organic anion transport. Located in endoplasmic reticulum membrane; lysosomal membrane; and plasma membrane. Part of monoatomic ion channel complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FLJ23420; leucine rich repeat containing 8 family member E; leucine rich repeat containing 8 family, member E; leucine-rich repeat containing 8 family member E; leucine-rich repeat-containing protein 8E; volume-regulated anion channel subunit LRRC8E

RGD Orthologs

Alliance Genes

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	19	7,888,510 - 7,902,016 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	7,888,505 - 7,902,021 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	7,953,395 - 7,966,901 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	7,859,390 - 7,872,907 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	7,824,591 - 7,838,110 (+)	NCBI		Celera
Cytogenetic Map	19	p13.2	NCBI
HuRef	19	7,623,841 - 7,637,152 (+)	NCBI		HuRef
CHM1_1	19	7,952,868 - 7,966,380 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	7,889,464 - 7,902,971 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

familial hemophagocytic lymphohistiocytosis 5 (IAGP)

genetic disease (IAGP)

long QT syndrome (IAGP)

mucolipidosis type IV (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

17beta-estradiol (EXP)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

2-hydroxypropanoic acid (EXP)

4,4'-sulfonyldiphenol (EXP)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (EXP)

aristolochic acid A (EXP)

atrazine (ISO)

benzo[a]pyrene (EXP)

benzo[b]fluoranthene (ISO)

bisphenol A (ISO)

cadmium dichloride (ISO)

choline (ISO)

coumestrol (EXP)

cyclosporin A (EXP)

dorsomorphin (EXP)

entinostat (EXP)

flutamide (ISO)

folic acid (ISO)

fulvestrant (EXP)

furan (ISO)

gentamycin (ISO)

glycidol (ISO)

hydralazine (EXP)

ivermectin (EXP)

L-methionine (ISO)

lidocaine (ISO)

lipopolysaccharide (EXP)

menadione (EXP)

methimazole (ISO)

panobinostat (EXP)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

rac-lactic acid (EXP)

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

SB 431542 (EXP)

silicon dioxide (EXP)

sodium dodecyl sulfate (EXP)

sodium fluoride (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

trichostatin A (EXP)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

aspartate transmembrane transport (IBA,IMP)

cell volume homeostasis (IDA)

cellular response to osmotic stress (IMP)

cyclic-GMP-AMP transmembrane import across plasma membrane (IBA,IDA,IEA)

monoatomic anion transmembrane transport (IBA,IMP)

monoatomic ion transmembrane transport (IEA)

transmembrane transport (IEA)

Cellular Component

cytoplasm (IBA,IDA)

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IDA,IEA)

lysosomal membrane (IDA,IEA)

lysosome (IEA)

membrane (IEA)

monoatomic ion channel complex (IBA,IMP)

plasma membrane (IBA,IDA,IEA,IMP,TAS)

Molecular Function

protein binding (IPI)

volume-sensitive anion channel activity (IDA,IMP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Prolonged QT interval (IAGP)

References

References - curated

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

Additional References at PubMed

PMID:11076863	PMID:11230166	PMID:12477932	PMID:14702039	PMID:15094057	PMID:15489334	PMID:15489336	PMID:16344560	PMID:16381901	PMID:18854154	PMID:21516116	PMID:21873635
PMID:22658674	PMID:24790029	PMID:26186194	PMID:26499835	PMID:26824658	PMID:27503909	PMID:27634302	PMID:28193731	PMID:28514442	PMID:29117863	PMID:29180619	PMID:29507755
PMID:29892012	PMID:30021884	PMID:32296183	PMID:33139539	PMID:33171122	PMID:33961781	PMID:35271311	PMID:35748872	PMID:36168627

Genomics

Comparative Map Data

LRRC8E
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	7,888,510 - 7,902,016 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	7,888,505 - 7,902,021 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	7,953,395 - 7,966,901 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	7,859,390 - 7,872,907 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	7,824,591 - 7,838,110 (+)	NCBI		Celera
Cytogenetic Map	19	p13.2	NCBI
HuRef	19	7,623,841 - 7,637,152 (+)	NCBI		HuRef
CHM1_1	19	7,952,868 - 7,966,380 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	19	7,889,464 - 7,902,971 (+)	NCBI		T2T-CHM13v2.0

Lrrc8e
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	4,274,269 - 4,287,470 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	4,276,827 - 4,287,470 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	4,224,268 - 4,237,470 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	4,226,827 - 4,237,470 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	4,226,827 - 4,237,470 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	4,226,827 - 4,236,898 (+)	NCBI		MGSCv36	mm8
Celera	8	4,416,312 - 4,438,059 (+)	NCBI		Celera
Cytogenetic Map	8	A1.1	NCBI
cM Map	8	1.99	NCBI

Lrrc8e
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	7,376,103 - 7,387,250 (+)	NCBI		GRCr8
mRatBN7.2	12	2,578,240 - 2,589,407 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	2,578,315 - 2,589,412 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	3,226,163 - 3,237,359 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	3,849,752 - 3,860,950 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	2,612,632 - 2,624,059 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	2,557,267 - 2,568,416 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	2,557,275 - 2,568,382 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	4,710,039 - 4,721,300 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	1,554,464 - 1,566,012 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	12	1,554,997 - 1,566,044 (-)	NCBI
Celera	12	4,393,851 - 4,404,933 (+)	NCBI		Celera
Cytogenetic Map	12	p12	NCBI

Lrrc8e
(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_004955563	1,362,266 - 1,370,226 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955563	1,362,266 - 1,370,221 (-)	NCBI	ChiLan1.0	ChiLan1.0

LRRC8E
(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	20	12,567,759 - 12,584,833 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	11,684,938 - 11,701,046 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	7,189,490 - 7,203,310 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	8,041,185 - 8,055,684 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	8,041,185 - 8,055,684 (+)	Ensembl	panpan1.1		panPan2

LRRC8E
(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	52,585,636 - 52,593,207 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	52,588,973 - 52,593,214 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	52,388,171 - 52,395,753 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	53,113,833 - 53,121,423 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	53,113,855 - 53,120,403 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	52,317,074 - 52,324,699 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	52,761,721 - 52,769,297 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	52,993,083 - 53,000,668 (+)	NCBI		UU_Cfam_GSD_1.0

Lrrc8e
(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_024405118	212,954,121 - 212,961,388 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936588	4,873,412 - 4,880,533 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936588	4,873,412 - 4,880,574 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LRRC8E
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	71,309,402 - 71,314,701 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	71,309,404 - 71,318,225 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	71,710,888 - 71,718,616 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LRRC8E
(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	6	7,337,918 - 7,351,914 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	7,346,243 - 7,351,855 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666081	462,397 - 474,514 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Lrrc8e
(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_004624828	860,744 - 868,595 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624828	859,419 - 868,595 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in LRRC8E
52 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	copy number gain	See cases [RCV000052879]	Chr19:1972245..9648879 [GRCh38] Chr19:1972244..9759555 [GRCh37] Chr19:1923244..9620555 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]\|See cases [RCV000052881]	Chr19:4039158..9176125 [GRCh38] Chr19:4039156..9286801 [GRCh37] Chr19:3990156..9147801 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|See cases [RCV000052876]	Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2	pathogenic
NM_025061.6(LRRC8E):c.1777G>A (p.Gly593Arg)	single nucleotide variant	Long QT syndrome [RCV000190174]	Chr19:7900299 [GRCh38] Chr19:7965184 [GRCh37] Chr19:19p13.2	likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_025061.6(LRRC8E):c.356C>T (p.Pro119Leu)	single nucleotide variant	Inborn genetic diseases [RCV003273185]	Chr19:7898878 [GRCh38] Chr19:7963763 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1010G>A (p.Arg337Gln)	single nucleotide variant	Inborn genetic diseases [RCV003239414]	Chr19:7899532 [GRCh38] Chr19:7964417 [GRCh37] Chr19:19p13.2	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	copy number gain	not provided [RCV000684096]	Chr19:3120160..9732820 [GRCh37] Chr19:19p13.3-13.2	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NC_000019.9:g.(?_7587617)_(8373194_?)dup	duplication	Familial hemophagocytic lymphohistiocytosis 5 [RCV001031629]	Chr19:7587617..8373194 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1297G>A (p.Val433Ile)	single nucleotide variant	not provided [RCV000949612]	Chr19:7899819 [GRCh38] Chr19:7964704 [GRCh37] Chr19:19p13.2	benign
NM_025061.6(LRRC8E):c.977C>A (p.Thr326Asn)	single nucleotide variant	Inborn genetic diseases [RCV003248215]	Chr19:7899499 [GRCh38] Chr19:7964384 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.422G>A (p.Gly141Asp)	single nucleotide variant	Inborn genetic diseases [RCV003290971]	Chr19:7898944 [GRCh38] Chr19:7963829 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.2245C>T (p.Arg749Cys)	single nucleotide variant	Inborn genetic diseases [RCV003241616]	Chr19:7900767 [GRCh38] Chr19:7965652 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1852C>T (p.Arg618Cys)	single nucleotide variant	not provided [RCV000974301]	Chr19:7900374 [GRCh38] Chr19:7965259 [GRCh37] Chr19:19p13.2	benign
NM_025061.6(LRRC8E):c.1452C>A (p.Asp484Glu)	single nucleotide variant	not provided [RCV000957459]	Chr19:7899974 [GRCh38] Chr19:7964859 [GRCh37] Chr19:19p13.2	benign
GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	copy number gain	not provided [RCV001007030]	Chr19:7657490..8569762 [GRCh37] Chr19:19p13.2	uncertain significance
NC_000019.9:g.(?_7586521)_(8670595_?)dup	duplication	Mucolipidosis type IV [RCV003109714]	Chr19:7586521..8670595 [GRCh37] Chr19:19p13.2	uncertain significance
NC_000019.9:g.(?_6361586)_(8212364_?)del	deletion	Mucolipidosis type IV [RCV003109715]	Chr19:6361586..8212364 [GRCh37] Chr19:19p13.3-13.2	pathogenic
NM_025061.6(LRRC8E):c.1339A>G (p.Ile447Val)	single nucleotide variant	Inborn genetic diseases [RCV003281192]	Chr19:7899861 [GRCh38] Chr19:7964746 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.2213C>T (p.Ser738Leu)	single nucleotide variant	Inborn genetic diseases [RCV003302298]	Chr19:7900735 [GRCh38] Chr19:7965620 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1814G>A (p.Gly605Asp)	single nucleotide variant	Inborn genetic diseases [RCV002732152]	Chr19:7900336 [GRCh38] Chr19:7965221 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.2077C>A (p.Pro693Thr)	single nucleotide variant	Inborn genetic diseases [RCV002776825]	Chr19:7900599 [GRCh38] Chr19:7965484 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1754G>T (p.Arg585Leu)	single nucleotide variant	Inborn genetic diseases [RCV002859388]	Chr19:7900276 [GRCh38] Chr19:7965161 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1519C>T (p.Arg507Trp)	single nucleotide variant	Inborn genetic diseases [RCV002684232]	Chr19:7900041 [GRCh38] Chr19:7964926 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.2164C>T (p.Arg722Cys)	single nucleotide variant	Inborn genetic diseases [RCV002969866]	Chr19:7900686 [GRCh38] Chr19:7965571 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1346A>G (p.Asp449Gly)	single nucleotide variant	Inborn genetic diseases [RCV002906722]	Chr19:7899868 [GRCh38] Chr19:7964753 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.2339C>T (p.Thr780Met)	single nucleotide variant	Inborn genetic diseases [RCV002688365]	Chr19:7900861 [GRCh38] Chr19:7965746 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1538A>G (p.His513Arg)	single nucleotide variant	Inborn genetic diseases [RCV002779036]	Chr19:7900060 [GRCh38] Chr19:7964945 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.545G>A (p.Arg182Gln)	single nucleotide variant	Inborn genetic diseases [RCV002911838]	Chr19:7899067 [GRCh38] Chr19:7963952 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.2266C>T (p.Arg756Cys)	single nucleotide variant	Inborn genetic diseases [RCV002692761]	Chr19:7900788 [GRCh38] Chr19:7965673 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.511G>A (p.Gly171Arg)	single nucleotide variant	Inborn genetic diseases [RCV002784453]	Chr19:7899033 [GRCh38] Chr19:7963918 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.2174G>A (p.Arg725Gln)	single nucleotide variant	Inborn genetic diseases [RCV002844328]	Chr19:7900696 [GRCh38] Chr19:7965581 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.584C>T (p.Pro195Leu)	single nucleotide variant	Inborn genetic diseases [RCV003000951]	Chr19:7899106 [GRCh38] Chr19:7963991 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1628G>A (p.Arg543Gln)	single nucleotide variant	Inborn genetic diseases [RCV002782664]	Chr19:7900150 [GRCh38] Chr19:7965035 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.251T>C (p.Leu84Pro)	single nucleotide variant	Inborn genetic diseases [RCV002665024]	Chr19:7898773 [GRCh38] Chr19:7963658 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.2224G>C (p.Gly742Arg)	single nucleotide variant	Inborn genetic diseases [RCV002849943]	Chr19:7900746 [GRCh38] Chr19:7965631 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1889G>A (p.Arg630Gln)	single nucleotide variant	Inborn genetic diseases [RCV002956403]	Chr19:7900411 [GRCh38] Chr19:7965296 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1489C>T (p.Arg497Cys)	single nucleotide variant	Inborn genetic diseases [RCV002788825]	Chr19:7900011 [GRCh38] Chr19:7964896 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1543G>A (p.Glu515Lys)	single nucleotide variant	Inborn genetic diseases [RCV002787873]	Chr19:7900065 [GRCh38] Chr19:7964950 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1520G>A (p.Arg507Gln)	single nucleotide variant	Inborn genetic diseases [RCV002916227]	Chr19:7900042 [GRCh38] Chr19:7964927 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.85G>A (p.Glu29Lys)	single nucleotide variant	Inborn genetic diseases [RCV002709004]	Chr19:7895688 [GRCh38] Chr19:7960573 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.206G>A (p.Cys69Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002965309]	Chr19:7898728 [GRCh38] Chr19:7963613 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1480G>A (p.Glu494Lys)	single nucleotide variant	Inborn genetic diseases [RCV002769558]	Chr19:7900002 [GRCh38] Chr19:7964887 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1888C>T (p.Arg630Trp)	single nucleotide variant	Inborn genetic diseases [RCV002674221]	Chr19:7900410 [GRCh38] Chr19:7965295 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1711C>T (p.Arg571Cys)	single nucleotide variant	Inborn genetic diseases [RCV002941322]	Chr19:7900233 [GRCh38] Chr19:7965118 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.21C>G (p.Phe7Leu)	single nucleotide variant	Inborn genetic diseases [RCV002944388]	Chr19:7895624 [GRCh38] Chr19:7960509 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1948C>T (p.Arg650Trp)	single nucleotide variant	Inborn genetic diseases [RCV002655817]	Chr19:7900470 [GRCh38] Chr19:7965355 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.623C>T (p.Ala208Val)	single nucleotide variant	Inborn genetic diseases [RCV002724001]	Chr19:7899145 [GRCh38] Chr19:7964030 [GRCh37] Chr19:19p13.2	likely benign
NM_025061.6(LRRC8E):c.1571G>A (p.Arg524Gln)	single nucleotide variant	Inborn genetic diseases [RCV002679110]	Chr19:7900093 [GRCh38] Chr19:7964978 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.745G>A (p.Asp249Asn)	single nucleotide variant	Inborn genetic diseases [RCV003254342]	Chr19:7899267 [GRCh38] Chr19:7964152 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1382A>C (p.His461Pro)	single nucleotide variant	Inborn genetic diseases [RCV003220583]	Chr19:7899904 [GRCh38] Chr19:7964789 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1255C>A (p.Leu419Met)	single nucleotide variant	Inborn genetic diseases [RCV003216899]	Chr19:7899777 [GRCh38] Chr19:7964662 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.760A>G (p.Met254Val)	single nucleotide variant	Inborn genetic diseases [RCV003194730]	Chr19:7899282 [GRCh38] Chr19:7964167 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1900A>G (p.Thr634Ala)	single nucleotide variant	Inborn genetic diseases [RCV003191931]	Chr19:7900422 [GRCh38] Chr19:7965307 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1250G>A (p.Gly417Asp)	single nucleotide variant	Inborn genetic diseases [RCV003178731]	Chr19:7899772 [GRCh38] Chr19:7964657 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.658G>A (p.Val220Ile)	single nucleotide variant	Inborn genetic diseases [RCV003286323]	Chr19:7899180 [GRCh38] Chr19:7964065 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.2077C>T (p.Pro693Ser)	single nucleotide variant	Inborn genetic diseases [RCV003357536]	Chr19:7900599 [GRCh38] Chr19:7965484 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.827A>G (p.Tyr276Cys)	single nucleotide variant	Inborn genetic diseases [RCV003342149]	Chr19:7899349 [GRCh38] Chr19:7964234 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1901C>T (p.Thr634Met)	single nucleotide variant	Inborn genetic diseases [RCV003345211]	Chr19:7900423 [GRCh38] Chr19:7965308 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.600G>T (p.Glu200Asp)	single nucleotide variant	Inborn genetic diseases [RCV003356097]	Chr19:7899122 [GRCh38] Chr19:7964007 [GRCh37] Chr19:19p13.2	uncertain significance
NM_025061.6(LRRC8E):c.1219C>T (p.Leu407Phe)	single nucleotide variant	Inborn genetic diseases [RCV003385594]	Chr19:7899741 [GRCh38] Chr19:7964626 [GRCh37] Chr19:19p13.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1564
Count of miRNA genes:	794
Interacting mature miRNAs:	943
Transcripts:	ENST00000306708, ENST00000593511, ENST00000598224, ENST00000599367, ENST00000600345
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.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

Low

281

420

258

100

1504

115

429

554

170

697

Below cutoff

1412

1267

1153

301

661

298

1378

1130

1554

239

782

929

941

756

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_050684	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001268284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001268285	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_025061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011528319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047439461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322217	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054322218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC010336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK027073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091134	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834474	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC022216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC070089	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC108252	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX538180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB049178	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CD109368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CF593782	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA447942	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459574	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000306708 ⟹ ENSP00000306524

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	7,888,510 - 7,902,016 (+)	Ensembl

RefSeq Acc Id:

ENST00000593511 ⟹ ENSP00000472642

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	7,893,596 - 7,898,808 (+)	Ensembl

RefSeq Acc Id:

ENST00000598224 ⟹ ENSP00000470302

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	7,888,551 - 7,899,084 (+)	Ensembl

RefSeq Acc Id:

ENST00000599367 ⟹ ENSP00000472491

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	7,895,134 - 7,898,933 (+)	Ensembl

RefSeq Acc Id:

ENST00000600345 ⟹ ENSP00000473127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	7,888,540 - 7,899,130 (+)	Ensembl

RefSeq Acc Id:

ENST00000618098 ⟹ ENSP00000479953

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	7,888,505 - 7,902,021 (+)	Ensembl

RefSeq Acc Id:

NM_001268284 ⟹ NP_001255213

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	7,888,510 - 7,902,016 (+)	NCBI
GRCh37	19	7,953,390 - 7,966,908 (+)	NCBI
HuRef	19	7,623,841 - 7,637,152 (+)	NCBI
CHM1_1	19	7,952,868 - 7,966,380 (+)	NCBI
T2T-CHM13v2.0	19	7,889,464 - 7,902,971 (+)	NCBI

Sequence:

show sequence

ACCCTCGCGGCCCGCCCGGGAACTCTGCGGGAGTCGCGGCAGCTCCGCTCCCAGAGACCCAGGA
GTTGGGCCCAGCGTCCCTCCCGGAACGAAGAGACGGGGTTTCACCATGCTGGCCAGGCTGGTTT
CGAACTCCTGACCTTGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAG
CCACTGCGCCTGGCCCAACCTATGACATTTTACACTTGCATGGCAGCATGATCCCAGTGGCCGA
GTTCAAGCAGTTCACGGAACAGCAGCCTGCGTTCAAGGTGCTCAAACCCTGGTGGGACGTGCTG
GCCGAGTACCTCACCGTGGCCATGCTCATGATTGGGGTCTTTGGCTGCACCCTCCAGGTGACAC
AGGACAAGATCATCTGTCTACCCAATCATGAGCTCCAGGAGAACTTATCAGAGGCCCCGTGCCA
GCAATTGCTGCCTCGGGGGATCCCTGAGCAGATTGGGGCCCTGCAGGAGGTTAAAGGCCTTAAG
AACAATTTGGACCTGCAGCAATACAGCTTTATTAACCAGCTGTGTTATGAGACGGCCCTGCACT
GGTATGCCAAGTACTTCCCTTACCTCGTGGTCATTCACACACTCATCTTCATGGTCTGCACCAG
TTTCTGGTTCAAGTTCCCTGGCACCAGCTCCAAGATTGAACACTTCATCTCCATCCTGGGCAAG
TGTTTCGACTCTCCATGGACCACCAGGGCCCTATCCGAGGTCTCCGGGGAGAACCAGAAGGGCC
CAGCAGCCACCGAACGGGCTGCGGCCACCATAGTGGCCATGGCAGGGACCGGGCCGGGGAAGGC
AGGGGAGGGTGAGAAGGAGAAAGTGCTGGCGGAACCGGAGAAGGTGGTGACCGAGCCTCCAGTT
GTCACCCTGTTGGACAAGAAGGAGGGTGAGCAAGCCAAAGCCCTGTTTGAGAAGGTGAAGAAGT
TCCGCATGCACGTGGAAGAGGGCGACATCCTGTACACCATGTACATCCGACAGACGGTGCTGAA
AGTGTGTAAGTTCCTGGCCATCCTGGTCTACAACCTGGTCTATGTGGAGAAGATCAGTTTCCTG
GTGGCCTGTAGGGTGGAGACGTCAGAGGTCACGGGCTACGCCAGCTTCTGCTGCAACCACACCA
AGGCCCACCTCTTCTCCAAGCTGGCCTTCTGTTACATCTCCTTTGTGTGCATCTACGGACTTAC
CTGCATCTACACGCTCTACTGGCTCTTCCACCGGCCCCTCAAGGAGTACTCCTTCCGTTCCGTG
CGGGAGGAGACTGGCATGGGGGACATTCCTGACGTCAAGAATGACTTCGCCTTCATGCTGCACC
TCATCGATCAGTACGACTCCCTCTACTCCAAGCGCTTCGCCGTCTTCCTGTCCGAGGTCAGCGA
AAGCCGTCTAAAGCAGCTCAATCTCAACCACGAGTGGACGCCCGAGAAGCTTCGACAGAAGCTG
CAGCGCAATGCCGCGGGCCGGCTGGAGCTGGCCCTCTGCATGCTGCCGGGTCTGCCCGACACCG
TCTTTGAGCTCAGTGAGGTGGAGTCACTCAGGCTGGAGGCCATCTGCGATATCACCTTCCCCCC
GGGGCTGTCACAGCTGGTGCACTTGCAGGAGCTCAGCTTGCTCCACTCGCCCGCCAGGCTACCC
TTCTCCTTGCAGGTCTTCCTGCGGGACCACCTGAAGGTGATGCGCGTCAAATGCGAGGAGCTCC
GCGAGGTGCCGCTTTGGGTGTTTGGGCTGCGGGGCTTGGAGGAGCTGCACCTGGAGGGGCTTTT
CCCCCAGGAGCTAGCTCGGGCAGCCACCCTGGAGAGCCTCCGGGAGCTGAAGCAGCTCAAGGTG
TTGTCCCTCCGGAGCAACGCCGGGAAGGTGCCAGCCAGTGTGACCGACGTTGCTGGCCACCTGC
AGAGGCTCAGCCTGCACAACGATGGGGCCCGTCTGGTTGCCCTGAACAGCCTCAAGAAGCTGGC
GGCATTGCGGGAGCTGGAGCTGGTGGCCTGCGGGCTGGAGCGCATCCCCCATGCAGTGTTCAGC
CTGGGTGCGCTGCAGGAACTTGACCTCAAGGACAACCACCTGCGCTCCATCGAGGAAATCCTCA
GCTTCCAGCACTGCCGGAAGCTGGTCACGCTCAGGCTGTGGCACAACCAGATCGCCTACGTCCC
TGAGCACGTGCGGAAGCTCAGGAGCCTGGAGCAGCTCTACCTCAGCTACAACAAGCTGGAGACC
CTGCCCTCCCAGCTCGGCCTGTGCTCAGGCCTCCGTCTGCTGGATGTGTCCCACAATGGGCTAC
ACTCCCTGCCACCCGAGGTGGGCCTCCTGCAGAACCTACAGCACCTGGCCCTCTCCTACAATGC
CCTGGAGGCCCTGCCCGAAGAGCTCTTCTTCTGCCGCAAGCTGCGGACGTTGCTTCTGGGCGAC
AACCAGCTGAGCCAGCTCTCGCCCCACGTGGGTGCCCTCAGAGCCCTCAGCCGCCTGGAGCTCA
AAGGCAACCGCTTAGAGGCGCTGCCAGAAGAACTTGGCAACTGTGGGGGGCTCAAGAAGGCGGG
GCTCCTGGTGGAAGACACGCTTTACCAGGGTCTGCCGGCAGAAGTGCGGGACAAGATGGAGGAG
GAATGAAGCTGGGGTGGGGCCGTTTTAGGTAGAGCCTTAAAAATGCTTCTGCCCTGGAATCTCA
ACCATTGTCTTCCAAGATAGGAAGCCAAGTGGGTCCAGGCCAGGAGATGGGGGGGGCGGGGGCA
GCTGTGTCATCTTTCTGGGGCCCAGGAGGATCTGGGCTGGTTTGTCTGGGGAGACAGACAGGAT
GTTGTGGAGCTGGGGTGGAACCTGGTATGGAGGGATTAACTCAGTCATGGCATTCTCCGACCAA
AACCACACCTGTGTCTCTGGCAGGCTGGCTGGCCTTGCTCCCATCCCTAGAACTGCTGCCTCTC
CCTGGATATTCCAGCTCAATTAGTGCCACATATGGGGGAAACGACACATCCCAGTGGGATTTCC
AACACTCCCCCTCCCCATGCAACAAAGCAACTTACTTCTGGAGTTCTCTCCCAAGGAGAGGACA
CAGACACAGTTGTTTGCTGTGTTATATGTTAGCTCCGAACAATGGTTCTCATTTGGCTAAGCAT
CAAAATCACCTAGGGAGTCGGTGCAAAACAAAATATCCCAGTCCCCTCCCCTGAAACACTGACT
CAGGAGGTTTGGTTGGGGGCCAGGAGTCTGTTCCTAAATATTCCAGGTAGTTCTGGTGCAGGTA
AGTGGCCCTGAGACAGTATGTTGGGAAATGCTGACGTAAAGGTATCAGGGCCGGGCGCTGTGGC
TCATGACTATAATCCCAGCTGTTTGAGAGGCCAATGCAGGAGGATGGTTGAGCTCAGGAGTTCG
AGATCAGCCTGGGTAACATAGCGAGACCCCACCTCTGCCAAAAAAAAAAAAAATAGGGTATCCA
AATATCTAGATTCTGATCCCTTTTGAGGTCCTAGACCCTTTGAGAAACTGATGAAGCCAGGCAC
CTCCTTCCTCAGGAAAATGCTGGTGTACAAATACACACAAAGCTCTTCAGGCAGCTGATAGATT
TCCCCCAGAGAGCTATTCAAGGACTTCCTAAGGTGGGTGGACTGCAGGGTTAGGACACCTGCTA
TAGAGGTGACATTTTTCCAAGGACAAGCAGGGACTTTGGTCTTGACTGTTCTCTGGGTGCTTAA
TAAATAATACTAATTATGCAA

hide sequence

RefSeq Acc Id:

NM_001268285 ⟹ NP_001255214

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	7,888,510 - 7,902,016 (+)	NCBI
GRCh37	19	7,953,390 - 7,966,908 (+)	NCBI
HuRef	19	7,623,841 - 7,637,152 (+)	NCBI
CHM1_1	19	7,952,868 - 7,966,380 (+)	NCBI
T2T-CHM13v2.0	19	7,889,464 - 7,902,971 (+)	NCBI

Sequence:

show sequence

ACCCTCGCGGCCCGCCCGGGAACTCTGCGGGAGTCGCGGCAGCTCCGCTCCCAGAGACCCAGGA
GTTGGGCCCAGCGTCCCTCCCGGAACGGTGACACAGGACAAGATCATCTGTCTACCCAATCATG
AGCTCCAGGAGAACTTATCAGAGGCCCCGTGCCAGCAATTGCTGCCTCGGGGGATCCCTGAGCA
GATTGGGGCCCTGCAGGAGGTTAAAGGCCTTAAGAACAATTTGGACCTGCAGCAATACAGCTTT
ATTAACCAGCTGTGTTATGAGACGGCCCTGCACTGGTATGCCAAGTACTTCCCTTACCTCGTGG
TCATTCACACACTCATCTTCATGGTCTGCACCAGTTTCTGGTTCAAGTTCCCTGGCACCAGCTC
CAAGATTGAACACTTCATCTCCATCCTGGGCAAGTGTTTCGACTCTCCATGGACCACCAGGGCC
CTATCCGAGGTCTCCGGGGAGAACCAGAAGGGCCCAGCAGCCACCGAACGGGCTGCGGCCACCA
TAGTGGCCATGGCAGGGACCGGGCCGGGGAAGGCAGGGGAGGGTGAGAAGGAGAAAGTGCTGGC
GGAACCGGAGAAGGTGGTGACCGAGCCTCCAGTTGTCACCCTGTTGGACAAGAAGGAGGGTGAG
CAAGCCAAAGCCCTGTTTGAGAAGGTGAAGAAGTTCCGCATGCACGTGGAAGAGGGCGACATCC
TGTACACCATGTACATCCGACAGACGGTGCTGAAAGTGTGTAAGTTCCTGGCCATCCTGGTCTA
CAACCTGGTCTATGTGGAGAAGATCAGTTTCCTGGTGGCCTGTAGGGTGGAGACGTCAGAGGTC
ACGGGCTACGCCAGCTTCTGCTGCAACCACACCAAGGCCCACCTCTTCTCCAAGCTGGCCTTCT
GTTACATCTCCTTTGTGTGCATCTACGGACTTACCTGCATCTACACGCTCTACTGGCTCTTCCA
CCGGCCCCTCAAGGAGTACTCCTTCCGTTCCGTGCGGGAGGAGACTGGCATGGGGGACATTCCT
GACGTCAAGAATGACTTCGCCTTCATGCTGCACCTCATCGATCAGTACGACTCCCTCTACTCCA
AGCGCTTCGCCGTCTTCCTGTCCGAGGTCAGCGAAAGCCGTCTAAAGCAGCTCAATCTCAACCA
CGAGTGGACGCCCGAGAAGCTTCGACAGAAGCTGCAGCGCAATGCCGCGGGCCGGCTGGAGCTG
GCCCTCTGCATGCTGCCGGGTCTGCCCGACACCGTCTTTGAGCTCAGTGAGGTGGAGTCACTCA
GGCTGGAGGCCATCTGCGATATCACCTTCCCCCCGGGGCTGTCACAGCTGGTGCACTTGCAGGA
GCTCAGCTTGCTCCACTCGCCCGCCAGGCTACCCTTCTCCTTGCAGGTCTTCCTGCGGGACCAC
CTGAAGGTGATGCGCGTCAAATGCGAGGAGCTCCGCGAGGTGCCGCTTTGGGTGTTTGGGCTGC
GGGGCTTGGAGGAGCTGCACCTGGAGGGGCTTTTCCCCCAGGAGCTAGCTCGGGCAGCCACCCT
GGAGAGCCTCCGGGAGCTGAAGCAGCTCAAGGTGTTGTCCCTCCGGAGCAACGCCGGGAAGGTG
CCAGCCAGTGTGACCGACGTTGCTGGCCACCTGCAGAGGCTCAGCCTGCACAACGATGGGGCCC
GTCTGGTTGCCCTGAACAGCCTCAAGAAGCTGGCGGCATTGCGGGAGCTGGAGCTGGTGGCCTG
CGGGCTGGAGCGCATCCCCCATGCAGTGTTCAGCCTGGGTGCGCTGCAGGAACTTGACCTCAAG
GACAACCACCTGCGCTCCATCGAGGAAATCCTCAGCTTCCAGCACTGCCGGAAGCTGGTCACGC
TCAGGCTGTGGCACAACCAGATCGCCTACGTCCCTGAGCACGTGCGGAAGCTCAGGAGCCTGGA
GCAGCTCTACCTCAGCTACAACAAGCTGGAGACCCTGCCCTCCCAGCTCGGCCTGTGCTCAGGC
CTCCGTCTGCTGGATGTGTCCCACAATGGGCTACACTCCCTGCCACCCGAGGTGGGCCTCCTGC
AGAACCTACAGCACCTGGCCCTCTCCTACAATGCCCTGGAGGCCCTGCCCGAAGAGCTCTTCTT
CTGCCGCAAGCTGCGGACGTTGCTTCTGGGCGACAACCAGCTGAGCCAGCTCTCGCCCCACGTG
GGTGCCCTCAGAGCCCTCAGCCGCCTGGAGCTCAAAGGCAACCGCTTAGAGGCGCTGCCAGAAG
AACTTGGCAACTGTGGGGGGCTCAAGAAGGCGGGGCTCCTGGTGGAAGACACGCTTTACCAGGG
TCTGCCGGCAGAAGTGCGGGACAAGATGGAGGAGGAATGAAGCTGGGGTGGGGCCGTTTTAGGT
AGAGCCTTAAAAATGCTTCTGCCCTGGAATCTCAACCATTGTCTTCCAAGATAGGAAGCCAAGT
GGGTCCAGGCCAGGAGATGGGGGGGGCGGGGGCAGCTGTGTCATCTTTCTGGGGCCCAGGAGGA
TCTGGGCTGGTTTGTCTGGGGAGACAGACAGGATGTTGTGGAGCTGGGGTGGAACCTGGTATGG
AGGGATTAACTCAGTCATGGCATTCTCCGACCAAAACCACACCTGTGTCTCTGGCAGGCTGGCT
GGCCTTGCTCCCATCCCTAGAACTGCTGCCTCTCCCTGGATATTCCAGCTCAATTAGTGCCACA
TATGGGGGAAACGACACATCCCAGTGGGATTTCCAACACTCCCCCTCCCCATGCAACAAAGCAA
CTTACTTCTGGAGTTCTCTCCCAAGGAGAGGACACAGACACAGTTGTTTGCTGTGTTATATGTT
AGCTCCGAACAATGGTTCTCATTTGGCTAAGCATCAAAATCACCTAGGGAGTCGGTGCAAAACA
AAATATCCCAGTCCCCTCCCCTGAAACACTGACTCAGGAGGTTTGGTTGGGGGCCAGGAGTCTG
TTCCTAAATATTCCAGGTAGTTCTGGTGCAGGTAAGTGGCCCTGAGACAGTATGTTGGGAAATG
CTGACGTAAAGGTATCAGGGCCGGGCGCTGTGGCTCATGACTATAATCCCAGCTGTTTGAGAGG
CCAATGCAGGAGGATGGTTGAGCTCAGGAGTTCGAGATCAGCCTGGGTAACATAGCGAGACCCC
ACCTCTGCCAAAAAAAAAAAAAATAGGGTATCCAAATATCTAGATTCTGATCCCTTTTGAGGTC
CTAGACCCTTTGAGAAACTGATGAAGCCAGGCACCTCCTTCCTCAGGAAAATGCTGGTGTACAA
ATACACACAAAGCTCTTCAGGCAGCTGATAGATTTCCCCCAGAGAGCTATTCAAGGACTTCCTA
AGGTGGGTGGACTGCAGGGTTAGGACACCTGCTATAGAGGTGACATTTTTCCAAGGACAAGCAG
GGACTTTGGTCTTGACTGTTCTCTGGGTGCTTAATAAATAATACTAATTATGCAA

hide sequence

RefSeq Acc Id:

NM_025061 ⟹ NP_079337

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	7,888,510 - 7,902,016 (+)	NCBI
GRCh37	19	7,953,390 - 7,966,908 (+)	RGD
Build 36	19	7,859,390 - 7,872,907 (+)	NCBI Archive
Celera	19	7,824,591 - 7,838,110 (+)	RGD
HuRef	19	7,623,841 - 7,637,152 (+)	ENTREZGENE
CHM1_1	19	7,952,868 - 7,966,380 (+)	NCBI
T2T-CHM13v2.0	19	7,889,464 - 7,902,971 (+)	NCBI

Sequence:

show sequence

ACCCTCGCGGCCCGCCCGGGAACTCTGCGGGAGTCGCGGCAGCTCCGCTCCCAGAGACCCAGGA
GTTGGGCCCAGCGTCCCTCCCGGAACGGCAGCATGATCCCAGTGGCCGAGTTCAAGCAGTTCAC
GGAACAGCAGCCTGCGTTCAAGGTGCTCAAACCCTGGTGGGACGTGCTGGCCGAGTACCTCACC
GTGGCCATGCTCATGATTGGGGTCTTTGGCTGCACCCTCCAGGTGACACAGGACAAGATCATCT
GTCTACCCAATCATGAGCTCCAGGAGAACTTATCAGAGGCCCCGTGCCAGCAATTGCTGCCTCG
GGGGATCCCTGAGCAGATTGGGGCCCTGCAGGAGGTTAAAGGCCTTAAGAACAATTTGGACCTG
CAGCAATACAGCTTTATTAACCAGCTGTGTTATGAGACGGCCCTGCACTGGTATGCCAAGTACT
TCCCTTACCTCGTGGTCATTCACACACTCATCTTCATGGTCTGCACCAGTTTCTGGTTCAAGTT
CCCTGGCACCAGCTCCAAGATTGAACACTTCATCTCCATCCTGGGCAAGTGTTTCGACTCTCCA
TGGACCACCAGGGCCCTATCCGAGGTCTCCGGGGAGAACCAGAAGGGCCCAGCAGCCACCGAAC
GGGCTGCGGCCACCATAGTGGCCATGGCAGGGACCGGGCCGGGGAAGGCAGGGGAGGGTGAGAA
GGAGAAAGTGCTGGCGGAACCGGAGAAGGTGGTGACCGAGCCTCCAGTTGTCACCCTGTTGGAC
AAGAAGGAGGGTGAGCAAGCCAAAGCCCTGTTTGAGAAGGTGAAGAAGTTCCGCATGCACGTGG
AAGAGGGCGACATCCTGTACACCATGTACATCCGACAGACGGTGCTGAAAGTGTGTAAGTTCCT
GGCCATCCTGGTCTACAACCTGGTCTATGTGGAGAAGATCAGTTTCCTGGTGGCCTGTAGGGTG
GAGACGTCAGAGGTCACGGGCTACGCCAGCTTCTGCTGCAACCACACCAAGGCCCACCTCTTCT
CCAAGCTGGCCTTCTGTTACATCTCCTTTGTGTGCATCTACGGACTTACCTGCATCTACACGCT
CTACTGGCTCTTCCACCGGCCCCTCAAGGAGTACTCCTTCCGTTCCGTGCGGGAGGAGACTGGC
ATGGGGGACATTCCTGACGTCAAGAATGACTTCGCCTTCATGCTGCACCTCATCGATCAGTACG
ACTCCCTCTACTCCAAGCGCTTCGCCGTCTTCCTGTCCGAGGTCAGCGAAAGCCGTCTAAAGCA
GCTCAATCTCAACCACGAGTGGACGCCCGAGAAGCTTCGACAGAAGCTGCAGCGCAATGCCGCG
GGCCGGCTGGAGCTGGCCCTCTGCATGCTGCCGGGTCTGCCCGACACCGTCTTTGAGCTCAGTG
AGGTGGAGTCACTCAGGCTGGAGGCCATCTGCGATATCACCTTCCCCCCGGGGCTGTCACAGCT
GGTGCACTTGCAGGAGCTCAGCTTGCTCCACTCGCCCGCCAGGCTACCCTTCTCCTTGCAGGTC
TTCCTGCGGGACCACCTGAAGGTGATGCGCGTCAAATGCGAGGAGCTCCGCGAGGTGCCGCTTT
GGGTGTTTGGGCTGCGGGGCTTGGAGGAGCTGCACCTGGAGGGGCTTTTCCCCCAGGAGCTAGC
TCGGGCAGCCACCCTGGAGAGCCTCCGGGAGCTGAAGCAGCTCAAGGTGTTGTCCCTCCGGAGC
AACGCCGGGAAGGTGCCAGCCAGTGTGACCGACGTTGCTGGCCACCTGCAGAGGCTCAGCCTGC
ACAACGATGGGGCCCGTCTGGTTGCCCTGAACAGCCTCAAGAAGCTGGCGGCATTGCGGGAGCT
GGAGCTGGTGGCCTGCGGGCTGGAGCGCATCCCCCATGCAGTGTTCAGCCTGGGTGCGCTGCAG
GAACTTGACCTCAAGGACAACCACCTGCGCTCCATCGAGGAAATCCTCAGCTTCCAGCACTGCC
GGAAGCTGGTCACGCTCAGGCTGTGGCACAACCAGATCGCCTACGTCCCTGAGCACGTGCGGAA
GCTCAGGAGCCTGGAGCAGCTCTACCTCAGCTACAACAAGCTGGAGACCCTGCCCTCCCAGCTC
GGCCTGTGCTCAGGCCTCCGTCTGCTGGATGTGTCCCACAATGGGCTACACTCCCTGCCACCCG
AGGTGGGCCTCCTGCAGAACCTACAGCACCTGGCCCTCTCCTACAATGCCCTGGAGGCCCTGCC
CGAAGAGCTCTTCTTCTGCCGCAAGCTGCGGACGTTGCTTCTGGGCGACAACCAGCTGAGCCAG
CTCTCGCCCCACGTGGGTGCCCTCAGAGCCCTCAGCCGCCTGGAGCTCAAAGGCAACCGCTTAG
AGGCGCTGCCAGAAGAACTTGGCAACTGTGGGGGGCTCAAGAAGGCGGGGCTCCTGGTGGAAGA
CACGCTTTACCAGGGTCTGCCGGCAGAAGTGCGGGACAAGATGGAGGAGGAATGAAGCTGGGGT
GGGGCCGTTTTAGGTAGAGCCTTAAAAATGCTTCTGCCCTGGAATCTCAACCATTGTCTTCCAA
GATAGGAAGCCAAGTGGGTCCAGGCCAGGAGATGGGGGGGGCGGGGGCAGCTGTGTCATCTTTC
TGGGGCCCAGGAGGATCTGGGCTGGTTTGTCTGGGGAGACAGACAGGATGTTGTGGAGCTGGGG
TGGAACCTGGTATGGAGGGATTAACTCAGTCATGGCATTCTCCGACCAAAACCACACCTGTGTC
TCTGGCAGGCTGGCTGGCCTTGCTCCCATCCCTAGAACTGCTGCCTCTCCCTGGATATTCCAGC
TCAATTAGTGCCACATATGGGGGAAACGACACATCCCAGTGGGATTTCCAACACTCCCCCTCCC
CATGCAACAAAGCAACTTACTTCTGGAGTTCTCTCCCAAGGAGAGGACACAGACACAGTTGTTT
GCTGTGTTATATGTTAGCTCCGAACAATGGTTCTCATTTGGCTAAGCATCAAAATCACCTAGGG
AGTCGGTGCAAAACAAAATATCCCAGTCCCCTCCCCTGAAACACTGACTCAGGAGGTTTGGTTG
GGGGCCAGGAGTCTGTTCCTAAATATTCCAGGTAGTTCTGGTGCAGGTAAGTGGCCCTGAGACA
GTATGTTGGGAAATGCTGACGTAAAGGTATCAGGGCCGGGCGCTGTGGCTCATGACTATAATCC
CAGCTGTTTGAGAGGCCAATGCAGGAGGATGGTTGAGCTCAGGAGTTCGAGATCAGCCTGGGTA
ACATAGCGAGACCCCACCTCTGCCAAAAAAAAAAAAAATAGGGTATCCAAATATCTAGATTCTG
ATCCCTTTTGAGGTCCTAGACCCTTTGAGAAACTGATGAAGCCAGGCACCTCCTTCCTCAGGAA
AATGCTGGTGTACAAATACACACAAAGCTCTTCAGGCAGCTGATAGATTTCCCCCAGAGAGCTA
TTCAAGGACTTCCTAAGGTGGGTGGACTGCAGGGTTAGGACACCTGCTATAGAGGTGACATTTT
TCCAAGGACAAGCAGGGACTTTGGTCTTGACTGTTCTCTGGGTGCTTAATAAATAATACTAATT
ATGCAA

hide sequence

RefSeq Acc Id:

XM_011528319 ⟹ XP_011526621

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	7,894,520 - 7,902,016 (+)	NCBI

Sequence:

show sequence

CGCGCCCAGCCCCAGTTACAGATTATCTATCTGGACAAGGACAGGAGGCTCCCAGGAGTGGGGG
AACTTGGATGTTGGCAGAAGTGGGCTGGTCTAAGGTTCCCCACCTTCCTTGTTCCACCTCCAGC
CTCTGGGGAAGTAGGTACCTGCCTGGGAGAGTGACATCTCAGCTCATGCCCCACGCCCCAGTGT
GATTTGTGGCTGGCCTGTCTGTATCTGTAATAGTGATAGCTTGGTCTAAAAGGAGACCCTGGGA
ACAGACAGAGTGGGCCGGCCAGGAGCCTGACAGCACAGCCCTAGCCTGGTCGCAGATGTCACCT
GACAACTTTCCATTTGCAAATCCTCCTTCCTCCTCGGACATCCGGACACCCCATTGCCCCCTCT
CAGAGCCCAGGTCTCTGGTTTCTGCCTGTGATTCTGGGCTGTAGCCCCTTTAGAAACTCAGGTG
TCCTGGTCACCTCCTACCCCCAGGGCTGACTAGCCTTCAGCTTGGCAGTCCCTGCCCCTGGGGC
CCTAGTAACCAGAGCCAGGCTCCAGCCGGCTTTTCCGGTTAGAGGTTGGAGGTGGTGCCCAGAG
TGCCCCTGGAGGGGGTGGAGGGGCCTACGCCCCGGAAGTCCTGAGCCTTGGAACGCTTTCAGGC
CTGGTGGCGGTGGGAGCCGGGGCTGGCCCAGACGCTGAGTGTCTGCAGTCAGGGAGCATCGAGG
CAGATGTTTTCAGGCCTTGGTGTCAGGGGTGGGAGAGGGATGCCTCGTTTTGGGGAGGGGGCCA
CCCGAGGAGGCTGGAGGGCGGCGGCCCTGTGGACTATCCCTCATGTGCTCTTCGAGGCAGCATG
ATCCCAGTGGCCGAGTTCAAGCAGTTCACGGAACAGCAGCCTGCGTTCAAGGTGCTCAAACCCT
GGTGGGACGTGCTGGCCGAGTACCTCACCGTGGCCATGCTCATGATTGGGGTCTTTGGCTGCAC
CCTCCAGGTGACACAGGACAAGATCATCTGTCTACCCAATCATGAGCTCCAGGAGAACTTATCA
GAGGCCCCGTGCCAGCAATTGCTGCCTCGGGGGATCCCTGAGCAGATTGGGGCCCTGCAGGAGG
TTAAAGGCCTTAAGAACAATTTGGACCTGCAGCAATACAGCTTTATTAACCAGCTGTGTTATGA
GACGGCCCTGCACTGGTATGCCAAGTACTTCCCTTACCTCGTGGTCATTCACACACTCATCTTC
ATGGTCTGCACCAGTTTCTGGTTCAAGTTCCCTGGCACCAGCTCCAAGATTGAACACTTCATCT
CCATCCTGGGCAAGTGTTTCGACTCTCCATGGACCACCAGGGCCCTATCCGAGGTCTCCGGGGA
GAACCAGAAGGGCCCAGCAGCCACCGAACGGGCTGCGGCCACCATAGTGGCCATGGCAGGGACC
GGGCCGGGGAAGGCAGGGGAGGGTGAGAAGGAGAAAGTGCTGGCGGAACCGGAGAAGGTGGTGA
CCGAGCCTCCAGTTGTCACCCTGTTGGACAAGAAGGAGGGTGAGCAAGCCAAAGCCCTGTTTGA
GAAGGTGAAGAAGTTCCGCATGCACGTGGAAGAGGGCGACATCCTGTACACCATGTACATCCGA
CAGACGGTGCTGAAAGTGTGTAAGTTCCTGGCCATCCTGGTCTACAACCTGGTCTATGTGGAGA
AGATCAGTTTCCTGGTGGCCTGTAGGGTGGAGACGTCAGAGGTCACGGGCTACGCCAGCTTCTG
CTGCAACCACACCAAGGCCCACCTCTTCTCCAAGCTGGCCTTCTGTTACATCTCCTTTGTGTGC
ATCTACGGACTTACCTGCATCTACACGCTCTACTGGCTCTTCCACCGGCCCCTCAAGGAGTACT
CCTTCCGTTCCGTGCGGGAGGAGACTGGCATGGGGGACATTCCTGACGTCAAGAATGACTTCGC
CTTCATGCTGCACCTCATCGATCAGTACGACTCCCTCTACTCCAAGCGCTTCGCCGTCTTCCTG
TCCGAGGTCAGCGAAAGCCGTCTAAAGCAGCTCAATCTCAACCACGAGTGGACGCCCGAGAAGC
TTCGACAGAAGCTGCAGCGCAATGCCGCGGGCCGGCTGGAGCTGGCCCTCTGCATGCTGCCGGG
TCTGCCCGACACCGTCTTTGAGCTCAGTGAGGTGGAGTCACTCAGGCTGGAGGCCATCTGCGAT
ATCACCTTCCCCCCGGGGCTGTCACAGCTGGTGCACTTGCAGGAGCTCAGCTTGCTCCACTCGC
CCGCCAGGCTACCCTTCTCCTTGCAGGTCTTCCTGCGGGACCACCTGAAGGTGATGCGCGTCAA
ATGCGAGGAGCTCCGCGAGGTGCCGCTTTGGGTGTTTGGGCTGCGGGGCTTGGAGGAGCTGCAC
CTGGAGGGGCTTTTCCCCCAGGAGCTAGCTCGGGCAGCCACCCTGGAGAGCCTCCGGGAGCTGA
AGCAGCTCAAGGTGTTGTCCCTCCGGAGCAACGCCGGGAAGGTGCCAGCCAGTGTGACCGACGT
TGCTGGCCACCTGCAGAGGCTCAGCCTGCACAACGATGGGGCCCGTCTGGTTGCCCTGAACAGC
CTCAAGAAGCTGGCGGCATTGCGGGAGCTGGAGCTGGTGGCCTGCGGGCTGGAGCGCATCCCCC
ATGCAGTGTTCAGCCTGGGTGCGCTGCAGGAACTTGACCTCAAGGACAACCACCTGCGCTCCAT
CGAGGAAATCCTCAGCTTCCAGCACTGCCGGAAGCTGGTCACGCTCAGGCTGTGGCACAACCAG
ATCGCCTACGTCCCTGAGCACGTGCGGAAGCTCAGGAGCCTGGAGCAGCTCTACCTCAGCTACA
ACAAGCTGGAGACCCTGCCCTCCCAGCTCGGCCTGTGCTCAGGCCTCCGTCTGCTGGATGTGTC
CCACAATGGGCTACACTCCCTGCCACCCGAGGTGGGCCTCCTGCAGAACCTACAGCACCTGGCC
CTCTCCTACAATGCCCTGGAGGCCCTGCCCGAAGAGCTCTTCTTCTGCCGCAAGCTGCGGACGT
TGCTTCTGGGCGACAACCAGCTGAGCCAGCTCTCGCCCCACGTGGGTGCCCTCAGAGCCCTCAG
CCGCCTGGAGCTCAAAGGCAACCGCTTAGAGGCGCTGCCAGAAGAACTTGGCAACTGTGGGGGG
CTCAAGAAGGCGGGGCTCCTGGTGGAAGACACGCTTTACCAGGGTCTGCCGGCAGAAGTGCGGG
ACAAGATGGAGGAGGAATGAAGCTGGGGTGGGGCCGTTTTAGGTAGAGCCTTAAAAATGCTTCT
GCCCTGGAATCTCAACCATTGTCTTCCAAGATAGGAAGCCAAGTGGGTCCAGGCCAGGAGATGG
GGGGGGCGGGGGCAGCTGTGTCATCTTTCTGGGGCCCAGGAGGATCTGGGCTGGTTTGTCTGGG
GAGACAGACAGGATGTTGTGGAGCTGGGGTGGAACCTGGTATGGAGGGATTAACTCAGTCATGG
CATTCTCCGACCAAAACCACACCTGTGTCTCTGGCAGGCTGGCTGGCCTTGCTCCCATCCCTAG
AACTGCTGCCTCTCCCTGGATATTCCAGCTCAATTAGTGCCACATATGGGGGAAACGACACATC
CCAGTGGGATTTCCAACACTCCCCCTCCCCATGCAACAAAGCAACTTACTTCTGGAGTTCTCTC
CCAAGGAGAGGACACAGACACAGTTGTTTGCTGTGTTATATGTTAGCTCCGAACAATGGTTCTC
ATTTGGCTAAGCATCAAAATCACCTAGGGAGTCGGTGCAAAACAAAATATCCCAGTCCCCTCCC
CTGAAACACTGACTCAGGAGGTTTGGTTGGGGGCCAGGAGTCTGTTCCTAAATATTCCAGGTAG
TTCTGGTGCAGGTAAGTGGCCCTGAGACAGTATGTTGGGAAATGCTGACGTAAAGGTATCAGGG
CCGGGCGCTGTGGCTCATGACTATAATCCCAGCTGTTTGAGAGGCCAATGCAGGAGGATGGTTG
AGCTCAGGAGTTCGAGATCAGCCTGGGTAACATAGCGAGACCCCACCTCTGCCAAAAAAAAAAA
AAATAGGGTATCCAAATATCTAGATTCTGATCCCTTTTGAGGTCCTAGACCCTTTGAGAAACTG
ATGAAGCCAGGCACCTCCTTCCTCAGGAAAATGCTGGTGTACAAATACACACAAAGCTCTTCAG
GCAGCTGATAGATTTCCCCCAGAGAGCTATTCAAGGACTTCCTAAGGTGGGTGGACTGCAGGGT
TAGGACACCTGCTATAGAGGTGACATTTTTCCAAGGACAAGCAGGGACTTTGGTCTTGACTGTT
CTCTGGGTGCTTAATAAATAATACTAATTATGCAA

hide sequence

RefSeq Acc Id:

XM_047439461 ⟹ XP_047295417

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	7,888,510 - 7,902,016 (+)	NCBI

RefSeq Acc Id:

XM_054322217 ⟹ XP_054178192

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	7,889,464 - 7,902,971 (+)	NCBI

RefSeq Acc Id:

XM_054322218 ⟹ XP_054178193

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	7,895,474 - 7,902,971 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001255213	(Get FASTA)	NCBI Sequence Viewer
	NP_001255214	(Get FASTA)	NCBI Sequence Viewer
	NP_079337	(Get FASTA)	NCBI Sequence Viewer
	XP_011526621	(Get FASTA)	NCBI Sequence Viewer
	XP_047295417	(Get FASTA)	NCBI Sequence Viewer
	XP_054178192	(Get FASTA)	NCBI Sequence Viewer
	XP_054178193	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH22216	(Get FASTA)	NCBI Sequence Viewer
	AAH70089	(Get FASTA)	NCBI Sequence Viewer
	AAI08253	(Get FASTA)	NCBI Sequence Viewer
	BAB15648	(Get FASTA)	NCBI Sequence Viewer
	BAG52290	(Get FASTA)	NCBI Sequence Viewer
	CAD39133	(Get FASTA)	NCBI Sequence Viewer
	EAW68969	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000306524
	ENSP00000306524.5
	ENSP00000470302.1
	ENSP00000472491.1
	ENSP00000472642.1
	ENSP00000473127.1
	ENSP00000479953
	ENSP00000479953.1
GenBank Protein	Q6NSJ5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_079337 ⟸ NM_025061
- Peptide Label:	isoform 1
- UniProtKB:	Q8N3B0 (UniProtKB/Swiss-Prot), Q7L236 (UniProtKB/Swiss-Prot), Q2YDY3 (UniProtKB/Swiss-Prot), B3KR78 (UniProtKB/Swiss-Prot), Q9H5H8 (UniProtKB/Swiss-Prot), Q6NSJ5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIPVAEFKQFTEQQPAFKVLKPWWDVLAEYLTVAMLMIGVFGCTLQVTQDKIICLPNHELQENL SEAPCQQLLPRGIPEQIGALQEVKGLKNNLDLQQYSFINQLCYETALHWYAKYFPYLVVIHTLI FMVCTSFWFKFPGTSSKIEHFISILGKCFDSPWTTRALSEVSGENQKGPAATERAAATIVAMAG TGPGKAGEGEKEKVLAEPEKVVTEPPVVTLLDKKEGEQAKALFEKVKKFRMHVEEGDILYTMYI RQTVLKVCKFLAILVYNLVYVEKISFLVACRVETSEVTGYASFCCNHTKAHLFSKLAFCYISFV CIYGLTCIYTLYWLFHRPLKEYSFRSVREETGMGDIPDVKNDFAFMLHLIDQYDSLYSKRFAVF LSEVSESRLKQLNLNHEWTPEKLRQKLQRNAAGRLELALCMLPGLPDTVFELSEVESLRLEAIC DITFPPGLSQLVHLQELSLLHSPARLPFSLQVFLRDHLKVMRVKCEELREVPLWVFGLRGLEEL HLEGLFPQELARAATLESLRELKQLKVLSLRSNAGKVPASVTDVAGHLQRLSLHNDGARLVALN SLKKLAALRELELVACGLERIPHAVFSLGALQELDLKDNHLRSIEEILSFQHCRKLVTLRLWHN QIAYVPEHVRKLRSLEQLYLSYNKLETLPSQLGLCSGLRLLDVSHNGLHSLPPEVGLLQNLQHL ALSYNALEALPEELFFCRKLRTLLLGDNQLSQLSPHVGALRALSRLELKGNRLEALPEELGNCG GLKKAGLLVEDTLYQGLPAEVRDKMEEE hide sequence

RefSeq Acc Id:	NP_001255213 ⟸ NM_001268284
- Peptide Label:	isoform 1
- UniProtKB:	Q8N3B0 (UniProtKB/Swiss-Prot), Q7L236 (UniProtKB/Swiss-Prot), Q2YDY3 (UniProtKB/Swiss-Prot), B3KR78 (UniProtKB/Swiss-Prot), Q9H5H8 (UniProtKB/Swiss-Prot), Q6NSJ5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIPVAEFKQFTEQQPAFKVLKPWWDVLAEYLTVAMLMIGVFGCTLQVTQDKIICLPNHELQENL SEAPCQQLLPRGIPEQIGALQEVKGLKNNLDLQQYSFINQLCYETALHWYAKYFPYLVVIHTLI FMVCTSFWFKFPGTSSKIEHFISILGKCFDSPWTTRALSEVSGENQKGPAATERAAATIVAMAG TGPGKAGEGEKEKVLAEPEKVVTEPPVVTLLDKKEGEQAKALFEKVKKFRMHVEEGDILYTMYI RQTVLKVCKFLAILVYNLVYVEKISFLVACRVETSEVTGYASFCCNHTKAHLFSKLAFCYISFV CIYGLTCIYTLYWLFHRPLKEYSFRSVREETGMGDIPDVKNDFAFMLHLIDQYDSLYSKRFAVF LSEVSESRLKQLNLNHEWTPEKLRQKLQRNAAGRLELALCMLPGLPDTVFELSEVESLRLEAIC DITFPPGLSQLVHLQELSLLHSPARLPFSLQVFLRDHLKVMRVKCEELREVPLWVFGLRGLEEL HLEGLFPQELARAATLESLRELKQLKVLSLRSNAGKVPASVTDVAGHLQRLSLHNDGARLVALN SLKKLAALRELELVACGLERIPHAVFSLGALQELDLKDNHLRSIEEILSFQHCRKLVTLRLWHN QIAYVPEHVRKLRSLEQLYLSYNKLETLPSQLGLCSGLRLLDVSHNGLHSLPPEVGLLQNLQHL ALSYNALEALPEELFFCRKLRTLLLGDNQLSQLSPHVGALRALSRLELKGNRLEALPEELGNCG GLKKAGLLVEDTLYQGLPAEVRDKMEEE hide sequence

RefSeq Acc Id:	NP_001255214 ⟸ NM_001268285
- Peptide Label:	isoform 2
- UniProtKB:	Q6NSJ5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MVCTSFWFKFPGTSSKIEHFISILGKCFDSPWTTRALSEVSGENQKGPAATERAAATIVAMAGT GPGKAGEGEKEKVLAEPEKVVTEPPVVTLLDKKEGEQAKALFEKVKKFRMHVEEGDILYTMYIR QTVLKVCKFLAILVYNLVYVEKISFLVACRVETSEVTGYASFCCNHTKAHLFSKLAFCYISFVC IYGLTCIYTLYWLFHRPLKEYSFRSVREETGMGDIPDVKNDFAFMLHLIDQYDSLYSKRFAVFL SEVSESRLKQLNLNHEWTPEKLRQKLQRNAAGRLELALCMLPGLPDTVFELSEVESLRLEAICD ITFPPGLSQLVHLQELSLLHSPARLPFSLQVFLRDHLKVMRVKCEELREVPLWVFGLRGLEELH LEGLFPQELARAATLESLRELKQLKVLSLRSNAGKVPASVTDVAGHLQRLSLHNDGARLVALNS LKKLAALRELELVACGLERIPHAVFSLGALQELDLKDNHLRSIEEILSFQHCRKLVTLRLWHNQ IAYVPEHVRKLRSLEQLYLSYNKLETLPSQLGLCSGLRLLDVSHNGLHSLPPEVGLLQNLQHLA LSYNALEALPEELFFCRKLRTLLLGDNQLSQLSPHVGALRALSRLELKGNRLEALPEELGNCGG LKKAGLLVEDTLYQGLPAEVRDKMEEE hide sequence

RefSeq Acc Id:	XP_011526621 ⟸ XM_011528319
- Peptide Label:	isoform X1
- UniProtKB:	Q8N3B0 (UniProtKB/Swiss-Prot), Q7L236 (UniProtKB/Swiss-Prot), Q2YDY3 (UniProtKB/Swiss-Prot), B3KR78 (UniProtKB/Swiss-Prot), Q9H5H8 (UniProtKB/Swiss-Prot), Q6NSJ5 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MIPVAEFKQFTEQQPAFKVLKPWWDVLAEYLTVAMLMIGVFGCTLQVTQDKIICLPNHELQENL SEAPCQQLLPRGIPEQIGALQEVKGLKNNLDLQQYSFINQLCYETALHWYAKYFPYLVVIHTLI FMVCTSFWFKFPGTSSKIEHFISILGKCFDSPWTTRALSEVSGENQKGPAATERAAATIVAMAG TGPGKAGEGEKEKVLAEPEKVVTEPPVVTLLDKKEGEQAKALFEKVKKFRMHVEEGDILYTMYI RQTVLKVCKFLAILVYNLVYVEKISFLVACRVETSEVTGYASFCCNHTKAHLFSKLAFCYISFV CIYGLTCIYTLYWLFHRPLKEYSFRSVREETGMGDIPDVKNDFAFMLHLIDQYDSLYSKRFAVF LSEVSESRLKQLNLNHEWTPEKLRQKLQRNAAGRLELALCMLPGLPDTVFELSEVESLRLEAIC DITFPPGLSQLVHLQELSLLHSPARLPFSLQVFLRDHLKVMRVKCEELREVPLWVFGLRGLEEL HLEGLFPQELARAATLESLRELKQLKVLSLRSNAGKVPASVTDVAGHLQRLSLHNDGARLVALN SLKKLAALRELELVACGLERIPHAVFSLGALQELDLKDNHLRSIEEILSFQHCRKLVTLRLWHN QIAYVPEHVRKLRSLEQLYLSYNKLETLPSQLGLCSGLRLLDVSHNGLHSLPPEVGLLQNLQHL ALSYNALEALPEELFFCRKLRTLLLGDNQLSQLSPHVGALRALSRLELKGNRLEALPEELGNCG GLKKAGLLVEDTLYQGLPAEVRDKMEEE hide sequence

RefSeq Acc Id:

ENSP00000306524 ⟸ ENST00000306708

RefSeq Acc Id:

ENSP00000470302 ⟸ ENST00000598224

RefSeq Acc Id:

ENSP00000472491 ⟸ ENST00000599367

RefSeq Acc Id:

ENSP00000473127 ⟸ ENST00000600345

RefSeq Acc Id:

ENSP00000479953 ⟸ ENST00000618098

RefSeq Acc Id:

ENSP00000472642 ⟸ ENST00000593511

RefSeq Acc Id:	XP_047295417 ⟸ XM_047439461
- Peptide Label:	isoform X1
- UniProtKB:	Q8N3B0 (UniProtKB/Swiss-Prot), Q7L236 (UniProtKB/Swiss-Prot), Q6NSJ5 (UniProtKB/Swiss-Prot), Q2YDY3 (UniProtKB/Swiss-Prot), B3KR78 (UniProtKB/Swiss-Prot), Q9H5H8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054178192 ⟸ XM_054322217
- Peptide Label:	isoform X1
- UniProtKB:	Q8N3B0 (UniProtKB/Swiss-Prot), Q7L236 (UniProtKB/Swiss-Prot), Q6NSJ5 (UniProtKB/Swiss-Prot), Q2YDY3 (UniProtKB/Swiss-Prot), B3KR78 (UniProtKB/Swiss-Prot), Q9H5H8 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054178193 ⟸ XM_054322218
- Peptide Label:	isoform X1
- UniProtKB:	Q8N3B0 (UniProtKB/Swiss-Prot), Q7L236 (UniProtKB/Swiss-Prot), Q6NSJ5 (UniProtKB/Swiss-Prot), Q2YDY3 (UniProtKB/Swiss-Prot), B3KR78 (UniProtKB/Swiss-Prot), Q9H5H8 (UniProtKB/Swiss-Prot)

Protein Domains

LRRC8 pannexin-like TM region

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6NSJ5-F1-model_v2	AlphaFold	Q6NSJ5	1-796	view protein structure

Promoters

RGD ID:

6795770

Promoter ID:

HG_KWN:28744

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562

Transcripts:

NM_025061

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	7,859,176 - 7,859,676 (+)	MPROMDB

RGD ID:

7238325

Promoter ID:

EPDNEW_H24909

Type:

initiation region

Name:

LRRC8E_1

Description:

leucine rich repeat containing 8 family member E

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	7,888,510 - 7,888,570	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:26272	AgrOrtholog
COSMIC	LRRC8E	COSMIC
Ensembl Genes	ENSG00000171017	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000306708	ENTREZGENE
	ENST00000306708.11	UniProtKB/Swiss-Prot
	ENST00000593511.1	UniProtKB/TrEMBL
	ENST00000598224.5	UniProtKB/TrEMBL
	ENST00000599367.1	UniProtKB/TrEMBL
	ENST00000600345.1	UniProtKB/TrEMBL
	ENST00000618098	ENTREZGENE
	ENST00000618098.4	UniProtKB/Swiss-Prot
Gene3D-CATH	3.80.10.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000171017	GTEx
HGNC ID	HGNC:26272	ENTREZGENE
Human Proteome Map	LRRC8E	Human Proteome Map
InterPro	Leu-rich_rpt	UniProtKB/Swiss-Prot
	Leu-rich_rpt_typical-subtyp	UniProtKB/Swiss-Prot
	LRR_dom_sf	UniProtKB/Swiss-Prot
	LRRC8_Pannexin-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:80131	UniProtKB/Swiss-Prot
NCBI Gene	80131	ENTREZGENE
OMIM	612891	OMIM
PANTHER	PTHR48051	UniProtKB/Swiss-Prot
	VOLUME-REGULATED ANION CHANNEL SUBUNIT LRRC8E	UniProtKB/Swiss-Prot
Pfam	LRR_1	UniProtKB/Swiss-Prot
	LRR_8	UniProtKB/Swiss-Prot
	Pannexin_like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA142671537	PharmGKB
PROSITE	LRR	UniProtKB/Swiss-Prot
SMART	LRR_TYP	UniProtKB/Swiss-Prot
Superfamily-SCOP	L domain-like	UniProtKB/Swiss-Prot
UniProt	B3KR78	ENTREZGENE
	LRC8E_HUMAN	UniProtKB/Swiss-Prot
	M0QZ48_HUMAN	UniProtKB/TrEMBL
	M0R2D8_HUMAN	UniProtKB/TrEMBL
	M0R2K8_HUMAN	UniProtKB/TrEMBL
	M0R3C1_HUMAN	UniProtKB/TrEMBL
	Q2YDY3	ENTREZGENE
	Q6NSJ5	ENTREZGENE
	Q7L236	ENTREZGENE
	Q8N3B0	ENTREZGENE
	Q9H5H8	ENTREZGENE
UniProt Secondary	B3KR78	UniProtKB/Swiss-Prot
	Q2YDY3	UniProtKB/Swiss-Prot
	Q7L236	UniProtKB/Swiss-Prot
	Q8N3B0	UniProtKB/Swiss-Prot
	Q9H5H8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-08-08	LRRC8E	leucine rich repeat containing 8 VRAC subunit E		leucine rich repeat containing 8 family member E	Symbol and/or name change	5135510	APPROVED
2016-06-07	LRRC8E	leucine rich repeat containing 8 family member E		leucine-rich repeat containing 8 family member E	Symbol and/or name change	5135510	APPROVED
2015-11-24	LRRC8E	leucine-rich repeat containing 8 family member E		leucine rich repeat containing 8 family, member E	Symbol and/or name change	5135510	APPROVED
2012-06-27	LRRC8E	leucine rich repeat containing 8 family, member E	LRRC8E	leucine rich repeat containing 8 family, member E	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar