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Gene: LRRC8D (leucine rich repeat containing 8 VRAC subunit D) Homo sapiens

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Symbol:

LRRC8D

Name:

leucine rich repeat containing 8 VRAC subunit D

RGD ID:

1320026

HGNC Page

HGNC:16992

Description:

Enables volume-sensitive anion channel activity. Involved in several processes, including monoatomic anion transmembrane transport; organic acid transmembrane transport; and protein hexamerization. Located in cytoplasm and plasma membrane. Part of monoatomic ion channel complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ10470; FLJ20403; HsLRRC8D; leucine rich repeat containing 5; leucine rich repeat containing 8 family member D; leucine rich repeat containing 8 family, member D; leucine-rich repeat containing 8 family member D; leucine-rich repeat-containing 5; leucine-rich repeat-containing protein 5; leucine-rich repeat-containing protein 8D; LRRC5; volume-regulated anion channel subunit LRRC8D

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	89,821,032 - 89,936,611 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	89,821,014 - 89,936,611 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	90,286,591 - 90,402,170 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	90,060,101 - 90,174,148 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	89,999,533 - 90,113,580	NCBI
Celera	1	88,532,275 - 88,647,680 (+)	NCBI		Celera
Cytogenetic Map	1	p22.2	NCBI
HuRef	1	88,403,943 - 88,519,276 (+)	NCBI		HuRef
CHM1_1	1	90,401,923 - 90,517,356 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	89,664,217 - 89,779,829 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

1,4-dichlorobenzene (ISO)

17beta-estradiol (EXP,ISO)

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

2,4-diaminotoluene (ISO)

2,6-dinitrotoluene (ISO)

3-methylcholanthrene (ISO)

4,4'-sulfonyldiphenol (ISO)

4-hydroxyphenyl retinamide (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

arsenite(3-) (ISO)

avobenzone (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium dichloride (EXP,ISO)

chlorpyrifos (ISO)

choline (ISO)

cobalt dichloride (EXP)

crocidolite asbestos (EXP)

cyclosporin A (EXP)

diazinon (EXP)

Dibutyl phosphate (EXP)

dibutyl phthalate (ISO)

dioxygen (ISO)

doxorubicin (EXP)

epoxiconazole (ISO)

ethanol (ISO)

fenthion (ISO)

fipronil (ISO)

fluoranthene (ISO)

flutamide (ISO)

folic acid (ISO)

fulvestrant (EXP)

glafenine (ISO)

hypochlorous acid (ISO)

iron dichloride (EXP)

L-methionine (ISO)

leflunomide (EXP)

methapyrilene (EXP)

methidathion (ISO)

methoxychlor (ISO)

methyl methanesulfonate (EXP)

oxaliplatin (ISO)

ozone (EXP)

paracetamol (EXP,ISO)

perfluorononanoic acid (EXP)

phenobarbital (ISO)

pirinixic acid (EXP)

potassium chromate (EXP)

progesterone (EXP)

prothioconazole (EXP)

quercetin (EXP)

resorcinol (EXP)

rotenone (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP,ISO)

sunitinib (EXP)

temozolomide (EXP)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (ISO)

topotecan (ISO)

trichloroethene (ISO)

triphenyl phosphate (EXP)

tungsten (ISO)

tunicamycin (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

aspartate transmembrane transport (IBA,IMP)

cellular response to osmotic stress (IMP)

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

intracellular glucose homeostasis (IEA,ISS)

intracellular signal transduction (IBA)

monoatomic anion transmembrane transport (IBA,IDA,IEA,IMP)

monoatomic ion transmembrane transport (IEA)

protein hexamerization (IDA)

taurine transmembrane transport (IMP)

Cellular Component

cytoplasm (IBA,IDA)

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IEA)

membrane (HDA,IDA,IEA)

monoatomic ion channel complex (IBA,IMP)

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

Molecular Function

protein binding (IPI)

volume-sensitive anion channel activity (IBA,IDA,IEA,IMP)

References

References - curated

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

Additional References at PubMed

PMID:8125298	PMID:8619474	PMID:9110174	PMID:12477932	PMID:12975309	PMID:14702039	PMID:15094057	PMID:15231747	PMID:15342556	PMID:15489334	PMID:16344560	PMID:16710414
PMID:18187620	PMID:19946888	PMID:21244100	PMID:21555518	PMID:21832049	PMID:21873635	PMID:24790029	PMID:25736928	PMID:26439863	PMID:26824658	PMID:28193731	PMID:28514442
PMID:28515276	PMID:28611215	PMID:29117863	PMID:30639242	PMID:31056421	PMID:31871319	PMID:32415200	PMID:33171122	PMID:33845483	PMID:33961781	PMID:34079125	PMID:35696571

Genomics

Comparative Map Data

LRRC8D
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	89,821,032 - 89,936,611 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	89,821,014 - 89,936,611 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	90,286,591 - 90,402,170 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	90,060,101 - 90,174,148 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	89,999,533 - 90,113,580	NCBI
Celera	1	88,532,275 - 88,647,680 (+)	NCBI		Celera
Cytogenetic Map	1	p22.2	NCBI
HuRef	1	88,403,943 - 88,519,276 (+)	NCBI		HuRef
CHM1_1	1	90,401,923 - 90,517,356 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	89,664,217 - 89,779,829 (+)	NCBI		T2T-CHM13v2.0

Lrrc8d
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	105,847,829 - 105,963,081 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	105,847,835 - 105,980,302 (+)	Ensembl		GRCm39 Ensembl
GRCm38	5	105,699,963 - 105,815,215 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	105,699,969 - 105,832,436 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	106,128,988 - 106,244,234 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	105,934,781 - 106,055,512 (+)	NCBI		MGSCv36	mm8
Celera	5	102,815,568 - 102,929,479 (+)	NCBI		Celera
Cytogenetic Map	5	E5	NCBI
cM Map	5	50.68	NCBI

Lrrc8d
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	4,335,114 - 4,411,549 (-)	NCBI		GRCr8
mRatBN7.2	14	4,029,971 - 4,134,922 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	4,029,473 - 4,135,877 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	4,031,137 - 4,046,274 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	5,331,273 - 5,346,414 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	4,034,927 - 4,050,056 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	5,085,606 - 5,194,808 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	5,086,054 - 5,101,177 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	5,077,476 - 5,157,358 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	5,104,878 - 5,120,038 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	14	5,104,878 - 5,120,038 (-)	NCBI
Celera	14	4,193,278 - 4,208,420 (-)	NCBI		Celera
Cytogenetic Map	14	p22	NCBI

Lrrc8d
(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_004955423	4,237,651 - 4,240,227 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955423	4,237,263 - 4,360,352 (-)	NCBI	ChiLan1.0	ChiLan1.0

LRRC8D
(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	1	137,088,794 - 137,203,964 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	136,244,564 - 136,359,775 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	92,481,871 - 92,606,922 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	91,232,146 - 91,346,539 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

LRRC8D
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	58,692,352 - 58,805,004 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	58,692,792 - 58,695,368 (-)	NCBI	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	61,401,528 - 61,514,644 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	59,086,742 - 59,089,777 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	59,086,746 - 59,111,772 (-)	NCBI		ROS_Cfam_1.0 Ensembl
ROS_Cfam_1.0 Ensembl	6	59,086,746 - 59,111,772 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	58,777,879 - 58,890,397 (-)	NCBI		UMICH_Zoey_3.1
UU_Cfam_GSD_1.0	6	59,211,040 - 59,323,995 (-)	NCBI		UU_Cfam_GSD_1.0

Lrrc8d
(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_024405058	99,984,575 - 100,097,562 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936537	8,850,411 - 8,963,448 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936537	8,850,411 - 8,963,601 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LRRC8D
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	126,766,211 - 126,874,275 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	126,751,720 - 126,883,344 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	138,807,385 - 138,915,877 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LRRC8D
(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	20	43,542,451 - 43,659,465 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	43,542,806 - 43,545,382 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666033	74,274,555 - 74,391,546 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Lrrc8d
(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_004624742	7,822,880 - 7,946,087 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624742	7,822,880 - 7,947,731 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in LRRC8D
32 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]\|See cases [RCV000051825]	Chr1:72661709..107456880 [GRCh38] Chr1:73127392..107999502 [GRCh37] Chr1:72899980..107801025 [NCBI36] Chr1:1p31.1-13.3	pathogenic
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	copy number gain	See cases [RCV000135654]	Chr1:83457325..104273917 [GRCh38] Chr1:83923008..104816539 [GRCh37] Chr1:83695596..104618062 [NCBI36] Chr1:1p31.1-21.1	pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	copy number loss	See cases [RCV000510161]	Chr1:72044544..92505091 [GRCh37] Chr1:1p31.1-22.1	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_001134479.2(LRRC8D):c.697A>G (p.Thr233Ala)	single nucleotide variant	not specified [RCV004300975]	Chr1:89933765 [GRCh38] Chr1:90399324 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.361G>A (p.Ala121Thr)	single nucleotide variant	not specified [RCV004295406]	Chr1:89933429 [GRCh38] Chr1:90398988 [GRCh37] Chr1:1p22.2	likely benign
NM_001134479.2(LRRC8D):c.1709A>G (p.Asn570Ser)	single nucleotide variant	not specified [RCV004293583]	Chr1:89934777 [GRCh38] Chr1:90400336 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh37/hg19 1p22.2(chr1:90259613-90631849)x3	copy number gain	not provided [RCV000684596]	Chr1:90259613..90631849 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p22.2(chr1:89898842-90679734)x1	copy number loss	not provided [RCV000749059]	Chr1:89898842..90679734 [GRCh37] Chr1:1p22.2	likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p22.2(chr1:89546802-90520362)x1	copy number loss	not provided [RCV000847004]	Chr1:89546802..90520362 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh37/hg19 1p22.2(chr1:90122068-90334780)x3	copy number gain	not provided [RCV001259062]	Chr1:90122068..90334780 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	copy number loss	not specified [RCV002053392]	Chr1:68180293..92731957 [GRCh37] Chr1:1p31.3-22.1	pathogenic
NM_001134479.2(LRRC8D):c.212G>A (p.Gly71Glu)	single nucleotide variant	not specified [RCV004221697]	Chr1:89933280 [GRCh38] Chr1:90398839 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.2341A>C (p.Asn781His)	single nucleotide variant	not specified [RCV004127347]	Chr1:89935409 [GRCh38] Chr1:90400968 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.1110A>G (p.Ile370Met)	single nucleotide variant	not specified [RCV004116795]	Chr1:89934178 [GRCh38] Chr1:90399737 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.2008A>T (p.Ile670Phe)	single nucleotide variant	not specified [RCV004141859]	Chr1:89935076 [GRCh38] Chr1:90400635 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.521T>G (p.Ile174Ser)	single nucleotide variant	not specified [RCV004127152]	Chr1:89933589 [GRCh38] Chr1:90399148 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.994G>A (p.Ala332Thr)	single nucleotide variant	not specified [RCV004209275]	Chr1:89934062 [GRCh38] Chr1:90399621 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.233A>G (p.Asn78Ser)	single nucleotide variant	not specified [RCV004152582]	Chr1:89933301 [GRCh38] Chr1:90398860 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.2435G>A (p.Arg812His)	single nucleotide variant	not specified [RCV004231061]	Chr1:89935503 [GRCh38] Chr1:90401062 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.1396C>T (p.Arg466Cys)	single nucleotide variant	not specified [RCV004280624]	Chr1:89934464 [GRCh38] Chr1:90400023 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.1856A>G (p.His619Arg)	single nucleotide variant	not specified [RCV004266781]	Chr1:89934924 [GRCh38] Chr1:90400483 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3	copy number gain	not provided [RCV003484021]	Chr1:88895486..91863052 [GRCh37] Chr1:1p22.2	uncertain significance
GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1	copy number loss	not provided [RCV003483216]	Chr1:87511398..90730302 [GRCh37] Chr1:1p22.3-22.2	uncertain significance
NM_001134479.2(LRRC8D):c.304A>G (p.Thr102Ala)	single nucleotide variant	not specified [RCV004415870]	Chr1:89933372 [GRCh38] Chr1:90398931 [GRCh37] Chr1:1p22.2	likely benign
NM_001134479.2(LRRC8D):c.1450G>A (p.Asp484Asn)	single nucleotide variant	not specified [RCV004415863]	Chr1:89934518 [GRCh38] Chr1:90400077 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.1727A>G (p.Asn576Ser)	single nucleotide variant	not specified [RCV004415866]	Chr1:89934795 [GRCh38] Chr1:90400354 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.223G>A (p.Val75Ile)	single nucleotide variant	not specified [RCV004415868]	Chr1:89933291 [GRCh38] Chr1:90398850 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.1639A>G (p.Thr547Ala)	single nucleotide variant	not specified [RCV004415865]	Chr1:89934707 [GRCh38] Chr1:90400266 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.2083A>C (p.Ile695Leu)	single nucleotide variant	not specified [RCV004415867]	Chr1:89935151 [GRCh38] Chr1:90400710 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.2461C>G (p.Arg821Gly)	single nucleotide variant	not specified [RCV004415869]	Chr1:89935529 [GRCh38] Chr1:90401088 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.77T>C (p.Val26Ala)	single nucleotide variant	not specified [RCV004415872]	Chr1:89933145 [GRCh38] Chr1:90398704 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.1541A>G (p.Asn514Ser)	single nucleotide variant	not specified [RCV004415864]	Chr1:89934609 [GRCh38] Chr1:90400168 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.660C>A (p.Asp220Glu)	single nucleotide variant	not specified [RCV004415871]	Chr1:89933728 [GRCh38] Chr1:90399287 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.732A>C (p.Glu244Asp)	single nucleotide variant	not specified [RCV004644844]	Chr1:89933800 [GRCh38] Chr1:90399359 [GRCh37] Chr1:1p22.2	uncertain significance
NM_001134479.2(LRRC8D):c.289G>A (p.Asp97Asn)	single nucleotide variant	not specified [RCV004644845]	Chr1:89933357 [GRCh38] Chr1:90398916 [GRCh37] Chr1:1p22.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1066
Count of miRNA genes:	606
Interacting mature miRNAs:	695
Transcripts:	ENST00000337338, ENST00000394593, ENST00000414841, ENST00000441269, ENST00000525774, ENST00000527156, ENST00000532201
Prediction methods:	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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2316890	GLUCO302_H	Glucose level QTL 302 (human)		0.005	Glucose level		1	68532992	94532992	Human
2289499	BW445_H	Body weight QTL 445 (human)	2.26		Body morphometry	waist to hip ratio	1	68532992	94532992	Human
1581539	BP75_H	Blood pressure QTL 75 (human)	2.4	0.001	Blood pressure	pulse pressure	1	68532992	94532992	Human
2292793	PRSTS24_H	Prostate tumor susceptibility QTL 24 (human)			Prostate tumor susceptibility	late onset	1	68532992	94532992	Human
1559226	SLEP4_H	Serum leptin concentration QTL 4 (human)	3.4		Hormone level	leptin	1	81532913	107532913	Human

Markers in Region

RH118438

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	90,370,895 - 90,371,192	UniSTS	GRCh37
Build 36	1	90,143,483 - 90,143,780	RGD	NCBI36
Celera	1	88,616,584 - 88,616,881	RGD
Cytogenetic Map	1	p22.2	UniSTS
HuRef	1	88,488,180 - 88,488,477	UniSTS
TNG Radiation Hybrid Map	1	95692.0	UniSTS

SHGC-110361

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	90,329,960 - 90,330,237	UniSTS	GRCh37
Build 36	1	90,102,548 - 90,102,825	RGD	NCBI36
Celera	1	88,575,651 - 88,575,928	RGD
Cytogenetic Map	1	p22.2	UniSTS
HuRef	1	88,447,251 - 88,447,528	UniSTS
TNG Radiation Hybrid Map	1	95671.0	UniSTS

SHGC-112470

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	90,378,736 - 90,379,006	UniSTS	GRCh37
Build 36	1	90,151,324 - 90,151,594	RGD	NCBI36
Celera	1	88,624,425 - 88,624,695	RGD
Cytogenetic Map	1	p22.2	UniSTS
HuRef	1	88,496,021 - 88,496,291	UniSTS
TNG Radiation Hybrid Map	1	95722.0	UniSTS

SHGC-75120

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	90,401,339 - 90,401,530	UniSTS	GRCh37
Build 36	1	90,173,927 - 90,174,118	RGD	NCBI36
Celera	1	88,647,028 - 88,647,219	RGD
Cytogenetic Map	1	p22.2	UniSTS
HuRef	1	88,518,624 - 88,518,815	UniSTS
TNG Radiation Hybrid Map	1	95743.0	UniSTS
GeneMap99-GB4 RH Map	1	250.79	UniSTS
NCBI RH Map	1	616.1	UniSTS

LRRC5_9879

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	90,400,853 - 90,401,648	UniSTS	GRCh37
Build 36	1	90,173,441 - 90,174,236	RGD	NCBI36
Celera	1	88,646,542 - 88,647,337	RGD
HuRef	1	88,518,138 - 88,518,933	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2437	2788	2246	4956	1726	2349	5	624	1950	465	2268	7290	6457	52	3721	1	849	1739	1615	173	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001134479	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011541689	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017001601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017001602	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423944	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423946	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423947	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423950	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423954	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423956	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047423961	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337344	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337345	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337347	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337348	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337354	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337355	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC099568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI671275	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092238	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK222787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL391497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL831880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL832952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY007147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009486	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC024159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP283613	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX093623	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471097	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA126452	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB097950	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000337338 ⟹ ENSP00000338887

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,821,032 - 89,936,611 (+)	Ensembl

Ensembl Acc Id:

ENST00000394593 ⟹ ENSP00000378093

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,821,921 - 89,936,001 (+)	Ensembl

Ensembl Acc Id:

ENST00000414841 ⟹ ENSP00000415117

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,843,048 - 89,933,418 (+)	Ensembl

Ensembl Acc Id:

ENST00000441269 ⟹ ENSP00000405784

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,846,580 - 89,933,892 (+)	Ensembl

Ensembl Acc Id:

ENST00000525774 ⟹ ENSP00000435609

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,821,014 - 89,933,160 (+)	Ensembl

Ensembl Acc Id:

ENST00000527156 ⟹ ENSP00000433422

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,843,423 - 89,933,628 (+)	Ensembl

Ensembl Acc Id:

ENST00000532201 ⟹ ENSP00000435504

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	89,833,693 - 89,933,433 (+)	Ensembl

RefSeq Acc Id:

NM_001134479 ⟹ NP_001127951

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,032 - 89,936,611 (+)	NCBI
GRCh37	1	90,286,573 - 90,401,991 (+)	RGD
Celera	1	88,532,275 - 88,647,680 (+)	RGD
HuRef	1	88,403,943 - 88,519,276 (+)	ENTREZGENE
CHM1_1	1	90,401,923 - 90,517,356 (+)	NCBI
T2T-CHM13v2.0	1	89,664,271 - 89,779,829 (+)	NCBI

Sequence:

show sequence

AATTCCCCTCGTTACAGAGTCATGTGCTGCTGCTCCCGTCGCCGCTGCTGCCGCTGCCGCTGCC
GCCGCCCGTGGTGCCCCGGCTCCTCCGCCGCGCTTCGAGGTGGCAGCCGCGGGCGGGGCCGCGG
GAGCAGGGTCCAGGGTGCAGCGCGCCTTCGCCGCCCCGGCGCGTCCCGGTGCAGCCGCCGCCCG
CCGCGGGTGATGCCGCCACCTCCGGCCTCAGCATAAGCCGTGGCTTGGCGGCCGAGCTGCACCC
CAAGGAAGTGCACGGCTGTCTATAACGTGCTGCCGGGTCTCAGGATGGAGGAGTGAAGTCTCCT
GTCGCCGTGGTTCCAGCCTCCGGAGCTCGCCCAAGCCGCGTCCCCAGAGAGCGCCCTGAGAGAA
CAGGGTGGCCGCTTGGTCCAGGAATGTTTACCCTTGCGGAAGTTGCATCACTTAATGACATTCA
GCCAACTTACCGAATCCTGAAACCATGGTGGGATGTGTTTATGGATTACCTAGCTGTTGTTATG
TTAATGGTAGCCATCTTTGCAGGAACCATGCAACTTACCAAAGATCAGGTGGTCTGTTTGCCAG
TATTGCCATCTCCTGTAAATTCAAAGGCACATACACCACCAGGAAATGCCGAGGTCACCACCAA
CATCCCAAAGATGGAAGCAGCCACCAACCAAGACCAAGATGGGCGGACAACAAACGACATTTCC
TTTGGGACATCTGCTGTGACACCTGACATACCTCTCAGAGCCACATATCCTCGCACAGATTTCG
CACTTCCAAATCAGGAGGCAAAGAAAGAGAAGAAAGATCCAACAGGTCGAAAAACAAACTTGGA
TTTTCAGCAATATGTATTTATTAATCAAATGTGTTACCATCTGGCCCTTCCGTGGTATTCTAAG
TACTTTCCATACCTAGCTCTTATACATACTATTATTCTCATGGTCAGTAGCAACTTTTGGTTCA
AATATCCCAAAACATGCTCAAAAGTAGAACATTTTGTTTCAATATTAGGAAAGTGCTTTGAATC
CCCTTGGACGACAAAAGCGTTGTCTGAGACAGCATGCGAAGACTCAGAGGAAAACAAGCAGAGA
ATAACAGGTGCCCAGACTCTACCAAAGCATGTTTCTACCAGCAGTGATGAAGGGAGCCCCAGTG
CCAGTACACCAATGATCAATAAAACTGGCTTTAAATTTTCAGCTGAGAAGCCTGTGATTGAAGT
TCCCAGCATGACAATCCTGGATAAAAAGGATGGAGAGCAGGCCAAAGCCCTGTTTGAGAAAGTG
AGGAAGTTCCGTGCCCATGTGGAAGATAGTGACTTGATCTATAAACTCTATGTGGTCCAAACAG
TTATCAAAACAGCCAAGTTCATTTTTATTCTCTGCTATACAGCGAACTTTGTCAACGCAATCAG
CTTTGAACACGTCTGCAAGCCCAAAGTTGAGCATCTGATTGGTTATGAGGTATTTGAGTGCACC
CACAATATGGCTTACATGTTGAAAAAGCTTCTCATCAGTTACATATCCATTATTTGTGTTTATG
GCTTTATCTGCCTCTACACTCTCTTCTGGTTATTCAGGATACCTTTGAAGGAATATTCTTTCGA
AAAAGTCAGAGAAGAGAGCAGTTTTAGTGACATTCCAGATGTCAAAAACGATTTTGCGTTCCTT
CTTCACATGGTAGACCAGTATGACCAGCTATATTCCAAGCGTTTTGGTGTGTTCTTGTCAGAAG
TTAGTGAAAATAAACTTAGGGAAATTAGTTTGAACCATGAGTGGACATTTGAAAAACTCAGGCA
GCACATTTCACGCAACGCCCAGGACAAGCAGGAGTTGCATCTGTTCATGCTGTCGGGGGTGCCC
GATGCTGTCTTTGACCTCACAGACCTGGATGTGCTAAAGCTTGAACTAATTCCAGAAGCTAAAA
TTCCTGCTAAGATTTCTCAAATGACTAACCTCCAAGAGCTCCACCTCTGCCACTGCCCTGCAAA
AGTTGAACAGACTGCTTTTAGCTTTCTTCGCGATCACTTGAGATGCCTTCACGTGAAGTTCACT
GATGTGGCTGAAATTCCTGCCTGGGTGTATTTGCTCAAAAACCTTCGAGAGTTGTACTTAATAG
GCAATTTGAACTCTGAAAACAATAAGATGATAGGACTTGAATCTCTCCGAGAGTTGCGGCACCT
TAAGATTCTCCACGTGAAGAGCAATTTGACCAAAGTTCCCTCCAACATTACAGATGTGGCTCCA
CATCTTACAAAGTTAGTCATTCATAATGACGGCACTAAACTCTTGGTACTGAACAGCCTTAAGA
AAATGATGAATGTCGCTGAGCTGGAACTCCAGAACTGTGAGCTAGAGAGAATCCCACATGCTAT
TTTCAGCCTCTCTAATTTACAGGAACTGGATTTAAAGTCCAATAACATTCGCACAATTGAGGAA
ATCATCAGTTTCCAGCATTTAAAACGACTGACTTGTTTAAAATTATGGCATAACAAAATTGTTA
CTATTCCTCCCTCTATTACCCATGTCAAAAACTTGGAGTCACTTTATTTCTCTAACAACAAGCT
CGAATCCTTACCAGTGGCAGTATTTAGTTTACAGAAACTCAGATGCTTAGATGTGAGCTACAAC
AACATTTCAATGATTCCAATAGAAATAGGATTGCTTCAGAACCTGCAGCATTTGCATATCACTG
GGAACAAAGTGGACATTCTGCCAAAACAATTGTTTAAATGCATAAAGTTGAGGACTTTGAATCT
GGGACAGAACTGCATCACCTCACTCCCAGAGAAAGTTGGTCAGCTCTCCCAGCTCACTCAGCTG
GAGCTGAAGGGGAACTGCTTGGACCGCCTGCCAGCCCAGCTGGGCCAGTGTCGGATGCTCAAGA
AAAGCGGGCTTGTTGTGGAAGATCACCTTTTTGATACCCTGCCACTCGAAGTCAAAGAGGCATT
GAATCAAGACATAAATATTCCCTTTGCAAATGGGATTTAAACTAAGATAATATATGCACAGTGA
TGTGCAGGAACAACTTCCTAGATTGCAAGTGCTCACGTACAAGTTATTACAAGATAATGCATTT
TAGGAGTAGATACATCTTTTAAAATAAAACAGAGAGGATGCATAGAAGGCTGATAGAAGACATA
ACTGAATGTTCAATGTTTGTAGGGTTTTAAGTCATTCATTTCCAAATCATTTTTTTTTTTCTTT
TGGGGAAAGGGAAGGAAAAATTATAATCACTAATCTTGGTTCTTTTTAAATTGTTTGTAACTTG
GATGCTGCCGCTACTGAATGTTTACAAATTGCTTGCCTGCTAAAGTAAATGATTAAATTGACAT
TTTCTTACTATATCACCTTTTTTGAGGGGTCTTAATTTACTTTGCTTAATTGGTGCAATATTGC
TTTAACTCCGTTCACTAAAGACAAACACATCAAGTCCAAACTTGTAAATTTAGATTTGCTGAAA
TACTGATTTATTTCCTGTTTTAATTTAAAGTGCCTCAAGTAAGCACCTCTCACAACAGTTGACT
GGTACTGCTGCTCCTGAGCACCTCGTGTCATAGATTTTATACTCTTACAGACTTGGAATGCAGT
AGAGGTATGTGGATTTTTAGGGGTTTTGTTTTTTTAAGAATAAGTAACAAGAAATAACACATTT
CTTAATAATAGCTTTTTTGACATAGTTTGGAGTTCTGATTATATGGTACATTTTTCTACCAGTA
ATATAGGGTTGCCAATAAATAGAAAATGTTTTCTAAAAATAAATTTTATTACAACAAAATAAAA
ATTTTAATGACTTATTAACACAACCTCCAGTATCACCACCATTTGGAAGATAACACAGAATCAC
AAGTATCATTTAATTTCTTGCCCTTTTCAGTGTTGTTCTGGTGTTGGTGGGAAAATAATAGGAA
ATGTAGTTCATTGGGTAGGGAAACTCTTACCTTTCCCTATCTTAAT

hide sequence

RefSeq Acc Id:

NM_018103 ⟹ NP_060573

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,939 - 89,936,611 (+)	NCBI
GRCh37	1	90,286,573 - 90,401,991 (+)	RGD
Build 36	1	90,060,101 - 90,174,148 (+)	NCBI Archive
Celera	1	88,532,275 - 88,647,680 (+)	RGD
HuRef	1	88,403,943 - 88,519,276 (+)	ENTREZGENE
CHM1_1	1	90,402,824 - 90,517,356 (+)	NCBI
T2T-CHM13v2.0	1	89,665,172 - 89,779,829 (+)	NCBI

Sequence:

show sequence

GTTTGGAGGCGTGGGCTCTTGGGAGCGGGACTTCTGCTCAAATCCTGTCCAGGGGCTTGAAAAG
GAGGAGAATTGGGGGTGGTTGCCGGGAGGACCAGCACCTCCAGTTACTGGAGGGTTGATAGGGG
CCTTCTCCTTTCCGTCACCCTTTACTAGGGGGTATCCCTTGCAGATAAATGAGATTTTTTGATT
TCTTAAAAAGCCAGCTGCAGTGAAGAAGAACTGCTGCAGGTCGAGGGGAAGAGAGGAAGTGCAC
GGCTGTCTATAACGTGCTGCCGGGTCTCAGGATGGAGGAGTGAAGTCTCCTGTCGCCGTGGTTC
CAGCCTCCGGAGCTCGCCCAAGCCGCGTCCCCAGAGAGCGCCCTGAGAGAACAGGGTGGCCGCT
TGGTCCAGGAATGTTTACCCTTGCGGAAGTTGCATCACTTAATGACATTCAGCCAACTTACCGA
ATCCTGAAACCATGGTGGGATGTGTTTATGGATTACCTAGCTGTTGTTATGTTAATGGTAGCCA
TCTTTGCAGGAACCATGCAACTTACCAAAGATCAGGTGGTCTGTTTGCCAGTATTGCCATCTCC
TGTAAATTCAAAGGCACATACACCACCAGGAAATGCCGAGGTCACCACCAACATCCCAAAGATG
GAAGCAGCCACCAACCAAGACCAAGATGGGCGGACAACAAACGACATTTCCTTTGGGACATCTG
CTGTGACACCTGACATACCTCTCAGAGCCACATATCCTCGCACAGATTTCGCACTTCCAAATCA
GGAGGCAAAGAAAGAGAAGAAAGATCCAACAGGTCGAAAAACAAACTTGGATTTTCAGCAATAT
GTATTTATTAATCAAATGTGTTACCATCTGGCCCTTCCGTGGTATTCTAAGTACTTTCCATACC
TAGCTCTTATACATACTATTATTCTCATGGTCAGTAGCAACTTTTGGTTCAAATATCCCAAAAC
ATGCTCAAAAGTAGAACATTTTGTTTCAATATTAGGAAAGTGCTTTGAATCCCCTTGGACGACA
AAAGCGTTGTCTGAGACAGCATGCGAAGACTCAGAGGAAAACAAGCAGAGAATAACAGGTGCCC
AGACTCTACCAAAGCATGTTTCTACCAGCAGTGATGAAGGGAGCCCCAGTGCCAGTACACCAAT
GATCAATAAAACTGGCTTTAAATTTTCAGCTGAGAAGCCTGTGATTGAAGTTCCCAGCATGACA
ATCCTGGATAAAAAGGATGGAGAGCAGGCCAAAGCCCTGTTTGAGAAAGTGAGGAAGTTCCGTG
CCCATGTGGAAGATAGTGACTTGATCTATAAACTCTATGTGGTCCAAACAGTTATCAAAACAGC
CAAGTTCATTTTTATTCTCTGCTATACAGCGAACTTTGTCAACGCAATCAGCTTTGAACACGTC
TGCAAGCCCAAAGTTGAGCATCTGATTGGTTATGAGGTATTTGAGTGCACCCACAATATGGCTT
ACATGTTGAAAAAGCTTCTCATCAGTTACATATCCATTATTTGTGTTTATGGCTTTATCTGCCT
CTACACTCTCTTCTGGTTATTCAGGATACCTTTGAAGGAATATTCTTTCGAAAAAGTCAGAGAA
GAGAGCAGTTTTAGTGACATTCCAGATGTCAAAAACGATTTTGCGTTCCTTCTTCACATGGTAG
ACCAGTATGACCAGCTATATTCCAAGCGTTTTGGTGTGTTCTTGTCAGAAGTTAGTGAAAATAA
ACTTAGGGAAATTAGTTTGAACCATGAGTGGACATTTGAAAAACTCAGGCAGCACATTTCACGC
AACGCCCAGGACAAGCAGGAGTTGCATCTGTTCATGCTGTCGGGGGTGCCCGATGCTGTCTTTG
ACCTCACAGACCTGGATGTGCTAAAGCTTGAACTAATTCCAGAAGCTAAAATTCCTGCTAAGAT
TTCTCAAATGACTAACCTCCAAGAGCTCCACCTCTGCCACTGCCCTGCAAAAGTTGAACAGACT
GCTTTTAGCTTTCTTCGCGATCACTTGAGATGCCTTCACGTGAAGTTCACTGATGTGGCTGAAA
TTCCTGCCTGGGTGTATTTGCTCAAAAACCTTCGAGAGTTGTACTTAATAGGCAATTTGAACTC
TGAAAACAATAAGATGATAGGACTTGAATCTCTCCGAGAGTTGCGGCACCTTAAGATTCTCCAC
GTGAAGAGCAATTTGACCAAAGTTCCCTCCAACATTACAGATGTGGCTCCACATCTTACAAAGT
TAGTCATTCATAATGACGGCACTAAACTCTTGGTACTGAACAGCCTTAAGAAAATGATGAATGT
CGCTGAGCTGGAACTCCAGAACTGTGAGCTAGAGAGAATCCCACATGCTATTTTCAGCCTCTCT
AATTTACAGGAACTGGATTTAAAGTCCAATAACATTCGCACAATTGAGGAAATCATCAGTTTCC
AGCATTTAAAACGACTGACTTGTTTAAAATTATGGCATAACAAAATTGTTACTATTCCTCCCTC
TATTACCCATGTCAAAAACTTGGAGTCACTTTATTTCTCTAACAACAAGCTCGAATCCTTACCA
GTGGCAGTATTTAGTTTACAGAAACTCAGATGCTTAGATGTGAGCTACAACAACATTTCAATGA
TTCCAATAGAAATAGGATTGCTTCAGAACCTGCAGCATTTGCATATCACTGGGAACAAAGTGGA
CATTCTGCCAAAACAATTGTTTAAATGCATAAAGTTGAGGACTTTGAATCTGGGACAGAACTGC
ATCACCTCACTCCCAGAGAAAGTTGGTCAGCTCTCCCAGCTCACTCAGCTGGAGCTGAAGGGGA
ACTGCTTGGACCGCCTGCCAGCCCAGCTGGGCCAGTGTCGGATGCTCAAGAAAAGCGGGCTTGT
TGTGGAAGATCACCTTTTTGATACCCTGCCACTCGAAGTCAAAGAGGCATTGAATCAAGACATA
AATATTCCCTTTGCAAATGGGATTTAAACTAAGATAATATATGCACAGTGATGTGCAGGAACAA
CTTCCTAGATTGCAAGTGCTCACGTACAAGTTATTACAAGATAATGCATTTTAGGAGTAGATAC
ATCTTTTAAAATAAAACAGAGAGGATGCATAGAAGGCTGATAGAAGACATAACTGAATGTTCAA
TGTTTGTAGGGTTTTAAGTCATTCATTTCCAAATCATTTTTTTTTTTCTTTTGGGGAAAGGGAA
GGAAAAATTATAATCACTAATCTTGGTTCTTTTTAAATTGTTTGTAACTTGGATGCTGCCGCTA
CTGAATGTTTACAAATTGCTTGCCTGCTAAAGTAAATGATTAAATTGACATTTTCTTACTATAT
CACCTTTTTTGAGGGGTCTTAATTTACTTTGCTTAATTGGTGCAATATTGCTTTAACTCCGTTC
ACTAAAGACAAACACATCAAGTCCAAACTTGTAAATTTAGATTTGCTGAAATACTGATTTATTT
CCTGTTTTAATTTAAAGTGCCTCAAGTAAGCACCTCTCACAACAGTTGACTGGTACTGCTGCTC
CTGAGCACCTCGTGTCATAGATTTTATACTCTTACAGACTTGGAATGCAGTAGAGGTATGTGGA
TTTTTAGGGGTTTTGTTTTTTTAAGAATAAGTAACAAGAAATAACACATTTCTTAATAATAGCT
TTTTTGACATAGTTTGGAGTTCTGATTATATGGTACATTTTTCTACCAGTAATATAGGGTTGCC
AATAAATAGAAAATGTTTTCTAAAAATAAATTTTATTACAACAAAATAAAAATTTTAATGACTT
ATTAACACAACCTCCAGTATCACCACCATTTGGAAGATAACACAGAATCACAAGTATCATTTAA
TTTCTTGCCCTTTTCAGTGTTGTTCTGGTGTTGGTGGGAAAATAATAGGAAATGTAGTTCATTG
GGTAGGGAAACTCTTACCTTTCCCTATCTTAAT

hide sequence

RefSeq Acc Id:

XM_011541689 ⟹ XP_011539991

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,032 - 89,936,611 (+)	NCBI

Sequence:

show sequence

CCATGTTACGCTTTGTCTAATTCCCCTCGTTACAGAGTCATGTGCTGCTGCTCCCGTCGCCGCT
GCTGCCGCTGCCGCTGCCGCCGCCCGTGGTGCCCCGGCTCCTCCGCCGCGCTTCGAGGTGGCAG
CCGCGGGCGGGGCCGCGGGAGCAGGGTCCAGGGTGCAGCGCGCCTTCGCCGCCCCGGCGCGTCC
CGGTGCAGCCGCCGCCCGCCGCGGGTGATGCCGCCACCTCCGGCCTCAGCATAAGCCGTGGCTT
GGCGGCCGAGCTGCACCCCAAGGAAGTGCACGGCTGTCTATAACGTGCTGCCGGGTCTCAGGAT
GGAGGAGTGAAGTCTCCTGTCGCCGTGGTTCCAGCCTCCGGAGCTCGCCCAAGCCGCGTCCCCA
GAGAGCGCCCTGAGAGAACAGGGTGGCCGCTTGGTCCAGGAGTCCCCGGGCCCCAGGCTGCAGA
CTGGTACCTGTCGAGAGCTGTTAGGAACTGGGCTTCACGGCAGTAGGAATGTTTACCCTTGCGG
AAGTTGCATCACTTAATGACATTCAGCCAACTTACCGAATCCTGAAACCATGGTGGGATGTGTT
TATGGATTACCTAGCTGTTGTTATGTTAATGGTAGCCATCTTTGCAGGAACCATGCAACTTACC
AAAGATCAGGTGGTCTGTTTGCCAGTATTGCCATCTCCTGTAAATTCAAAGGCACATACACCAC
CAGGAAATGCCGAGGTCACCACCAACATCCCAAAGATGGAAGCAGCCACCAACCAAGACCAAGA
TGGGCGGACAACAAACGACATTTCCTTTGGGACATCTGCTGTGACACCTGACATACCTCTCAGA
GCCACATATCCTCGCACAGATTTCGCACTTCCAAATCAGGAGGCAAAGAAAGAGAAGAAAGATC
CAACAGGTCGAAAAACAAACTTGGATTTTCAGCAATATGTATTTATTAATCAAATGTGTTACCA
TCTGGCCCTTCCGTGGTATTCTAAGTACTTTCCATACCTAGCTCTTATACATACTATTATTCTC
ATGGTCAGTAGCAACTTTTGGTTCAAATATCCCAAAACATGCTCAAAAGTAGAACATTTTGTTT
CAATATTAGGAAAGTGCTTTGAATCCCCTTGGACGACAAAAGCGTTGTCTGAGACAGCATGCGA
AGACTCAGAGGAAAACAAGCAGAGAATAACAGGTGCCCAGACTCTACCAAAGCATGTTTCTACC
AGCAGTGATGAAGGGAGCCCCAGTGCCAGTACACCAATGATCAATAAAACTGGCTTTAAATTTT
CAGCTGAGAAGCCTGTGATTGAAGTTCCCAGCATGACAATCCTGGATAAAAAGGATGGAGAGCA
GGCCAAAGCCCTGTTTGAGAAAGTGAGGAAGTTCCGTGCCCATGTGGAAGATAGTGACTTGATC
TATAAACTCTATGTGGTCCAAACAGTTATCAAAACAGCCAAGTTCATTTTTATTCTCTGCTATA
CAGCGAACTTTGTCAACGCAATCAGCTTTGAACACGTCTGCAAGCCCAAAGTTGAGCATCTGAT
TGGTTATGAGGTATTTGAGTGCACCCACAATATGGCTTACATGTTGAAAAAGCTTCTCATCAGT
TACATATCCATTATTTGTGTTTATGGCTTTATCTGCCTCTACACTCTCTTCTGGTTATTCAGGA
TACCTTTGAAGGAATATTCTTTCGAAAAAGTCAGAGAAGAGAGCAGTTTTAGTGACATTCCAGA
TGTCAAAAACGATTTTGCGTTCCTTCTTCACATGGTAGACCAGTATGACCAGCTATATTCCAAG
CGTTTTGGTGTGTTCTTGTCAGAAGTTAGTGAAAATAAACTTAGGGAAATTAGTTTGAACCATG
AGTGGACATTTGAAAAACTCAGGCAGCACATTTCACGCAACGCCCAGGACAAGCAGGAGTTGCA
TCTGTTCATGCTGTCGGGGGTGCCCGATGCTGTCTTTGACCTCACAGACCTGGATGTGCTAAAG
CTTGAACTAATTCCAGAAGCTAAAATTCCTGCTAAGATTTCTCAAATGACTAACCTCCAAGAGC
TCCACCTCTGCCACTGCCCTGCAAAAGTTGAACAGACTGCTTTTAGCTTTCTTCGCGATCACTT
GAGATGCCTTCACGTGAAGTTCACTGATGTGGCTGAAATTCCTGCCTGGGTGTATTTGCTCAAA
AACCTTCGAGAGTTGTACTTAATAGGCAATTTGAACTCTGAAAACAATAAGATGATAGGACTTG
AATCTCTCCGAGAGTTGCGGCACCTTAAGATTCTCCACGTGAAGAGCAATTTGACCAAAGTTCC
CTCCAACATTACAGATGTGGCTCCACATCTTACAAAGTTAGTCATTCATAATGACGGCACTAAA
CTCTTGGTACTGAACAGCCTTAAGAAAATGATGAATGTCGCTGAGCTGGAACTCCAGAACTGTG
AGCTAGAGAGAATCCCACATGCTATTTTCAGCCTCTCTAATTTACAGGAACTGGATTTAAAGTC
CAATAACATTCGCACAATTGAGGAAATCATCAGTTTCCAGCATTTAAAACGACTGACTTGTTTA
AAATTATGGCATAACAAAATTGTTACTATTCCTCCCTCTATTACCCATGTCAAAAACTTGGAGT
CACTTTATTTCTCTAACAACAAGCTCGAATCCTTACCAGTGGCAGTATTTAGTTTACAGAAACT
CAGATGCTTAGATGTGAGCTACAACAACATTTCAATGATTCCAATAGAAATAGGATTGCTTCAG
AACCTGCAGCATTTGCATATCACTGGGAACAAAGTGGACATTCTGCCAAAACAATTGTTTAAAT
GCATAAAGTTGAGGACTTTGAATCTGGGACAGAACTGCATCACCTCACTCCCAGAGAAAGTTGG
TCAGCTCTCCCAGCTCACTCAGCTGGAGCTGAAGGGGAACTGCTTGGACCGCCTGCCAGCCCAG
CTGGGCCAGTGTCGGATGCTCAAGAAAAGCGGGCTTGTTGTGGAAGATCACCTTTTTGATACCC
TGCCACTCGAAGTCAAAGAGGCATTGAATCAAGACATAAATATTCCCTTTGCAAATGGGATTTA
AACTAAGATAATATATGCACAGTGATGTGCAGGAACAACTTCCTAGATTGCAAGTGCTCACGTA
CAAGTTATTACAAGATAATGCATTTTAGGAGTAGATACATCTTTTAAAATAAAACAGAGAGGAT
GCATAGAAGGCTGATAGAAGACATAACTGAATGTTCAATGTTTGTAGGGTTTTAAGTCATTCAT
TTCCAAATCATTTTTTTTTTTCTTTTGGGGAAAGGGAAGGAAAAATTATAATCACTAATCTTGG
TTCTTTTTAAATTGTTTGTAACTTGGATGCTGCCGCTACTGAATGTTTACAAATTGCTTGCCTG
CTAAAGTAAATGATTAAATTGACATTTTCTTACTATA

hide sequence

RefSeq Acc Id:

XM_047423940 ⟹ XP_047279896

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,032 - 89,936,611 (+)	NCBI

RefSeq Acc Id:

XM_047423943 ⟹ XP_047279899

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,032 - 89,936,611 (+)	NCBI

RefSeq Acc Id:

XM_047423944 ⟹ XP_047279900

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,032 - 89,936,611 (+)	NCBI

RefSeq Acc Id:

XM_047423946 ⟹ XP_047279902

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,939 - 89,936,611 (+)	NCBI

RefSeq Acc Id:

XM_047423947 ⟹ XP_047279903

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,032 - 89,936,611 (+)	NCBI

RefSeq Acc Id:

XM_047423950 ⟹ XP_047279906

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,939 - 89,936,611 (+)	NCBI

RefSeq Acc Id:

XM_047423953 ⟹ XP_047279909

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,032 - 89,936,611 (+)	NCBI

RefSeq Acc Id:

XM_047423954 ⟹ XP_047279910

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,939 - 89,936,611 (+)	NCBI

RefSeq Acc Id:

XM_047423956 ⟹ XP_047279912

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,032 - 89,936,611 (+)	NCBI

RefSeq Acc Id:

XM_047423961 ⟹ XP_047279917

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,911,537 - 89,936,611 (+)	NCBI

RefSeq Acc Id:

XM_054337344 ⟹ XP_054193319

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,664,217 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337345 ⟹ XP_054193320

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,669,742 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337346 ⟹ XP_054193321

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,685,480 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337347 ⟹ XP_054193322

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,664,271 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337348 ⟹ XP_054193323

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,664,271 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337349 ⟹ XP_054193324

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,664,271 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337350 ⟹ XP_054193325

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,665,172 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337351 ⟹ XP_054193326

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,664,639 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337352 ⟹ XP_054193327

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,665,172 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337353 ⟹ XP_054193328

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,664,877 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337354 ⟹ XP_054193329

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,665,172 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337355 ⟹ XP_054193330

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,664,877 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337356 ⟹ XP_054193331

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,685,480 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337357 ⟹ XP_054193332

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,669,742 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337358 ⟹ XP_054193333

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,767,813 - 89,779,829 (+)	NCBI

RefSeq Acc Id:

XM_054337359 ⟹ XP_054193334

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	89,686,437 - 89,779,829 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001127951	(Get FASTA)	NCBI Sequence Viewer
	NP_060573	(Get FASTA)	NCBI Sequence Viewer
	XP_011539991	(Get FASTA)	NCBI Sequence Viewer
	XP_047279896	(Get FASTA)	NCBI Sequence Viewer
	XP_047279899	(Get FASTA)	NCBI Sequence Viewer
	XP_047279900	(Get FASTA)	NCBI Sequence Viewer
	XP_047279902	(Get FASTA)	NCBI Sequence Viewer
	XP_047279903	(Get FASTA)	NCBI Sequence Viewer
	XP_047279906	(Get FASTA)	NCBI Sequence Viewer
	XP_047279909	(Get FASTA)	NCBI Sequence Viewer
	XP_047279910	(Get FASTA)	NCBI Sequence Viewer
	XP_047279912	(Get FASTA)	NCBI Sequence Viewer
	XP_047279917	(Get FASTA)	NCBI Sequence Viewer
	XP_054193319	(Get FASTA)	NCBI Sequence Viewer
	XP_054193320	(Get FASTA)	NCBI Sequence Viewer
	XP_054193321	(Get FASTA)	NCBI Sequence Viewer
	XP_054193322	(Get FASTA)	NCBI Sequence Viewer
	XP_054193323	(Get FASTA)	NCBI Sequence Viewer
	XP_054193324	(Get FASTA)	NCBI Sequence Viewer
	XP_054193325	(Get FASTA)	NCBI Sequence Viewer
	XP_054193326	(Get FASTA)	NCBI Sequence Viewer
	XP_054193327	(Get FASTA)	NCBI Sequence Viewer
	XP_054193328	(Get FASTA)	NCBI Sequence Viewer
	XP_054193329	(Get FASTA)	NCBI Sequence Viewer
	XP_054193330	(Get FASTA)	NCBI Sequence Viewer
	XP_054193331	(Get FASTA)	NCBI Sequence Viewer
	XP_054193332	(Get FASTA)	NCBI Sequence Viewer
	XP_054193333	(Get FASTA)	NCBI Sequence Viewer
	XP_054193334	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH09486	(Get FASTA)	NCBI Sequence Viewer
	AAH24159	(Get FASTA)	NCBI Sequence Viewer
	AAQ89233	(Get FASTA)	NCBI Sequence Viewer
	BAA91631	(Get FASTA)	NCBI Sequence Viewer
	BAD96507	(Get FASTA)	NCBI Sequence Viewer
	BAG52503	(Get FASTA)	NCBI Sequence Viewer
	CAH56273	(Get FASTA)	NCBI Sequence Viewer
	CAH56285	(Get FASTA)	NCBI Sequence Viewer
	EAW73130	(Get FASTA)	NCBI Sequence Viewer
	EAW73131	(Get FASTA)	NCBI Sequence Viewer
	EAW73132	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000338887
	ENSP00000338887.5
	ENSP00000378093
	ENSP00000378093.3
	ENSP00000405784.2
	ENSP00000415117.1
	ENSP00000433422.1
	ENSP00000435504.1
	ENSP00000435609.1
GenBank Protein	Q7L1W4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001127951 ⟸ NM_001134479

- UniProtKB:

Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MFTLAEVASLNDIQPTYRILKPWWDVFMDYLAVVMLMVAIFAGTMQLTKDQVVCLPVLPSPVNS
KAHTPPGNAEVTTNIPKMEAATNQDQDGRTTNDISFGTSAVTPDIPLRATYPRTDFALPNQEAK
KEKKDPTGRKTNLDFQQYVFINQMCYHLALPWYSKYFPYLALIHTIILMVSSNFWFKYPKTCSK
VEHFVSILGKCFESPWTTKALSETACEDSEENKQRITGAQTLPKHVSTSSDEGSPSASTPMINK
TGFKFSAEKPVIEVPSMTILDKKDGEQAKALFEKVRKFRAHVEDSDLIYKLYVVQTVIKTAKFI
FILCYTANFVNAISFEHVCKPKVEHLIGYEVFECTHNMAYMLKKLLISYISIICVYGFICLYTL
FWLFRIPLKEYSFEKVREESSFSDIPDVKNDFAFLLHMVDQYDQLYSKRFGVFLSEVSENKLRE
ISLNHEWTFEKLRQHISRNAQDKQELHLFMLSGVPDAVFDLTDLDVLKLELIPEAKIPAKISQM
TNLQELHLCHCPAKVEQTAFSFLRDHLRCLHVKFTDVAEIPAWVYLLKNLRELYLIGNLNSENN
KMIGLESLRELRHLKILHVKSNLTKVPSNITDVAPHLTKLVIHNDGTKLLVLNSLKKMMNVAEL
ELQNCELERIPHAIFSLSNLQELDLKSNNIRTIEEIISFQHLKRLTCLKLWHNKIVTIPPSITH
VKNLESLYFSNNKLESLPVAVFSLQKLRCLDVSYNNISMIPIEIGLLQNLQHLHITGNKVDILP
KQLFKCIKLRTLNLGQNCITSLPEKVGQLSQLTQLELKGNCLDRLPAQLGQCRMLKKSGLVVED
HLFDTLPLEVKEALNQDINIPFANGI

hide sequence

RefSeq Acc Id:

NP_060573 ⟸ NM_018103

- UniProtKB:

Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MFTLAEVASLNDIQPTYRILKPWWDVFMDYLAVVMLMVAIFAGTMQLTKDQVVCLPVLPSPVNS
KAHTPPGNAEVTTNIPKMEAATNQDQDGRTTNDISFGTSAVTPDIPLRATYPRTDFALPNQEAK
KEKKDPTGRKTNLDFQQYVFINQMCYHLALPWYSKYFPYLALIHTIILMVSSNFWFKYPKTCSK
VEHFVSILGKCFESPWTTKALSETACEDSEENKQRITGAQTLPKHVSTSSDEGSPSASTPMINK
TGFKFSAEKPVIEVPSMTILDKKDGEQAKALFEKVRKFRAHVEDSDLIYKLYVVQTVIKTAKFI
FILCYTANFVNAISFEHVCKPKVEHLIGYEVFECTHNMAYMLKKLLISYISIICVYGFICLYTL
FWLFRIPLKEYSFEKVREESSFSDIPDVKNDFAFLLHMVDQYDQLYSKRFGVFLSEVSENKLRE
ISLNHEWTFEKLRQHISRNAQDKQELHLFMLSGVPDAVFDLTDLDVLKLELIPEAKIPAKISQM
TNLQELHLCHCPAKVEQTAFSFLRDHLRCLHVKFTDVAEIPAWVYLLKNLRELYLIGNLNSENN
KMIGLESLRELRHLKILHVKSNLTKVPSNITDVAPHLTKLVIHNDGTKLLVLNSLKKMMNVAEL
ELQNCELERIPHAIFSLSNLQELDLKSNNIRTIEEIISFQHLKRLTCLKLWHNKIVTIPPSITH
VKNLESLYFSNNKLESLPVAVFSLQKLRCLDVSYNNISMIPIEIGLLQNLQHLHITGNKVDILP
KQLFKCIKLRTLNLGQNCITSLPEKVGQLSQLTQLELKGNCLDRLPAQLGQCRMLKKSGLVVED
HLFDTLPLEVKEALNQDINIPFANGI

hide sequence

RefSeq Acc Id:	XP_011539991 ⟸ XM_011541689
- Peptide Label:	isoform X1
- UniProtKB:	Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFTLAEVASLNDIQPTYRILKPWWDVFMDYLAVVMLMVAIFAGTMQLTKDQVVCLPVLPSPVNS KAHTPPGNAEVTTNIPKMEAATNQDQDGRTTNDISFGTSAVTPDIPLRATYPRTDFALPNQEAK KEKKDPTGRKTNLDFQQYVFINQMCYHLALPWYSKYFPYLALIHTIILMVSSNFWFKYPKTCSK VEHFVSILGKCFESPWTTKALSETACEDSEENKQRITGAQTLPKHVSTSSDEGSPSASTPMINK TGFKFSAEKPVIEVPSMTILDKKDGEQAKALFEKVRKFRAHVEDSDLIYKLYVVQTVIKTAKFI FILCYTANFVNAISFEHVCKPKVEHLIGYEVFECTHNMAYMLKKLLISYISIICVYGFICLYTL FWLFRIPLKEYSFEKVREESSFSDIPDVKNDFAFLLHMVDQYDQLYSKRFGVFLSEVSENKLRE ISLNHEWTFEKLRQHISRNAQDKQELHLFMLSGVPDAVFDLTDLDVLKLELIPEAKIPAKISQM TNLQELHLCHCPAKVEQTAFSFLRDHLRCLHVKFTDVAEIPAWVYLLKNLRELYLIGNLNSENN KMIGLESLRELRHLKILHVKSNLTKVPSNITDVAPHLTKLVIHNDGTKLLVLNSLKKMMNVAEL ELQNCELERIPHAIFSLSNLQELDLKSNNIRTIEEIISFQHLKRLTCLKLWHNKIVTIPPSITH VKNLESLYFSNNKLESLPVAVFSLQKLRCLDVSYNNISMIPIEIGLLQNLQHLHITGNKVDILP KQLFKCIKLRTLNLGQNCITSLPEKVGQLSQLTQLELKGNCLDRLPAQLGQCRMLKKSGLVVED HLFDTLPLEVKEALNQDINIPFANGI hide sequence

Ensembl Acc Id:

ENSP00000415117 ⟸ ENST00000414841

Ensembl Acc Id:

ENSP00000435504 ⟸ ENST00000532201

Ensembl Acc Id:

ENSP00000338887 ⟸ ENST00000337338

Ensembl Acc Id:

ENSP00000405784 ⟸ ENST00000441269

Ensembl Acc Id:

ENSP00000435609 ⟸ ENST00000525774

Ensembl Acc Id:

ENSP00000378093 ⟸ ENST00000394593

Ensembl Acc Id:

ENSP00000433422 ⟸ ENST00000527156

RefSeq Acc Id:	XP_047279909 ⟸ XM_047423953
- Peptide Label:	isoform X1
- UniProtKB:	Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047279912 ⟸ XM_047423956
- Peptide Label:	isoform X1
- UniProtKB:	Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047279903 ⟸ XM_047423947
- Peptide Label:	isoform X1
- UniProtKB:	Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047279896 ⟸ XM_047423940
- Peptide Label:	isoform X1
- UniProtKB:	Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047279900 ⟸ XM_047423944
- Peptide Label:	isoform X1
- UniProtKB:	Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047279899 ⟸ XM_047423943
- Peptide Label:	isoform X1
- UniProtKB:	Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047279906 ⟸ XM_047423950
- Peptide Label:	isoform X1
- UniProtKB:	Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047279910 ⟸ XM_047423954
- Peptide Label:	isoform X1
- UniProtKB:	Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047279902 ⟸ XM_047423946
- Peptide Label:	isoform X1
- UniProtKB:	Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_047279917 ⟸ XM_047423961
- Peptide Label:	isoform X1
- UniProtKB:	Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), Q9NVW3 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193319 ⟸ XM_054337344
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193324 ⟸ XM_054337349
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193323 ⟸ XM_054337348
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193322 ⟸ XM_054337347
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193326 ⟸ XM_054337351
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193328 ⟸ XM_054337353
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193330 ⟸ XM_054337355
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193327 ⟸ XM_054337352
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193329 ⟸ XM_054337354
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193325 ⟸ XM_054337350
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193332 ⟸ XM_054337357
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193320 ⟸ XM_054337345
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193331 ⟸ XM_054337356
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193321 ⟸ XM_054337346
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193334 ⟸ XM_054337359
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054193333 ⟸ XM_054337358
- Peptide Label:	isoform X1
- UniProtKB:	Q9NVW3 (UniProtKB/Swiss-Prot), Q7L1W4 (UniProtKB/Swiss-Prot), Q6UWB2 (UniProtKB/Swiss-Prot), D3DT29 (UniProtKB/Swiss-Prot), B3KRU1 (UniProtKB/TrEMBL)

Protein Domains

LRRC8 pannexin-like TM region

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q7L1W4-F1-model_v2	AlphaFold	Q7L1W4	1-858	view protein structure

Promoters

RGD ID:

6856164

Promoter ID:

EPDNEW_H1247

Type:

initiation region

Name:

LRRC8D_3

Description:

leucine rich repeat containing 8 family member D

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H1248 EPDNEW_H1249 EPDNEW_H1250 EPDNEW_H1251 EPDNEW_H1252

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,821,939 - 89,821,999	EPDNEW

RGD ID:

6856166

Promoter ID:

EPDNEW_H1248

Type:

single initiation site

Name:

LRRC8D_1

Description:

leucine rich repeat containing 8 family member D

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H1247 EPDNEW_H1249 EPDNEW_H1250 EPDNEW_H1251 EPDNEW_H1252

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,841,208 - 89,841,268	EPDNEW

RGD ID:

6856168

Promoter ID:

EPDNEW_H1249

Type:

initiation region

Name:

LRRC8D_6

Description:

leucine rich repeat containing 8 family member D

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H1247 EPDNEW_H1248 EPDNEW_H1250 EPDNEW_H1251 EPDNEW_H1252

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,843,166 - 89,843,226	EPDNEW

RGD ID:

6856170

Promoter ID:

EPDNEW_H1250

Type:

initiation region

Name:

LRRC8D_2

Description:

leucine rich repeat containing 8 family member D

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H1247 EPDNEW_H1248 EPDNEW_H1249 EPDNEW_H1251 EPDNEW_H1252

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,843,451 - 89,843,511	EPDNEW

RGD ID:

6856172

Promoter ID:

EPDNEW_H1251

Type:

initiation region

Name:

LRRC8D_4

Description:

leucine rich repeat containing 8 family member D

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H1247 EPDNEW_H1248 EPDNEW_H1249 EPDNEW_H1250 EPDNEW_H1252

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,843,655 - 89,843,715	EPDNEW

RGD ID:

6856174

Promoter ID:

EPDNEW_H1252

Type:

initiation region

Name:

LRRC8D_5

Description:

leucine rich repeat containing 8 family member D

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H1247 EPDNEW_H1248 EPDNEW_H1249 EPDNEW_H1250 EPDNEW_H1251

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	89,844,214 - 89,844,274	EPDNEW

RGD ID:

6785964

Promoter ID:

HG_KWN:3578

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid

Transcripts:

NM_001134479

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	90,058,796 - 90,059,296 (+)	MPROMDB

RGD ID:

6785965

Promoter ID:

HG_KWN:3579

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell_12Hour, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

NM_018103

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	90,059,071 - 90,060,007 (+)	MPROMDB

RGD ID:

6785967

Promoter ID:

HG_KWN:3580

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000029414

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	90,081,389 - 90,081,889 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16992	AgrOrtholog
COSMIC	LRRC8D	COSMIC
Ensembl Genes	ENSG00000171492	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000337338	ENTREZGENE
	ENST00000337338.9	UniProtKB/Swiss-Prot
	ENST00000394593	ENTREZGENE
	ENST00000394593.7	UniProtKB/Swiss-Prot
	ENST00000414841.1	UniProtKB/TrEMBL
	ENST00000441269.2	UniProtKB/TrEMBL
	ENST00000525774.5	UniProtKB/TrEMBL
	ENST00000527156.1	UniProtKB/TrEMBL
	ENST00000532201.5	UniProtKB/TrEMBL
Gene3D-CATH	3.80.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000171492	GTEx
HGNC ID	HGNC:16992	ENTREZGENE
Human Proteome Map	LRRC8D	Human Proteome Map
InterPro	Leu-rich_rpt	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Leu-rich_rpt_typical-subtyp	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LRR_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LRR_domain-containing	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LRRC8_Pannexin-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:55144	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	55144	ENTREZGENE
OMIM	612890	OMIM
PANTHER	LEUCINE RICH REPEAT CONTAINING 8 VRAC SUBUNIT A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR48051	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	LRR_8	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Pannexin_like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA30464	PharmGKB
PROSITE	LRR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	LRR_SD22	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	LRR_TYP	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	L domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B3KRU1	ENTREZGENE, UniProtKB/TrEMBL
	D3DT29	ENTREZGENE
	E9PJ89_HUMAN	UniProtKB/TrEMBL
	E9PJS7_HUMAN	UniProtKB/TrEMBL
	E9PL08_HUMAN	UniProtKB/TrEMBL
	E9PMF9_HUMAN	UniProtKB/TrEMBL
	LRC8D_HUMAN	UniProtKB/Swiss-Prot
	Q5VWA0_HUMAN	UniProtKB/TrEMBL
	Q6UWB2	ENTREZGENE
	Q7L1W4	ENTREZGENE
	Q96GG5_HUMAN	UniProtKB/TrEMBL
	Q9NVW3	ENTREZGENE
UniProt Secondary	D3DT29	UniProtKB/Swiss-Prot
	Q6UWB2	UniProtKB/Swiss-Prot
	Q9NVW3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Name	Description	Reference	Status
2017-08-08	LRRC8D	leucine rich repeat containing 8 VRAC subunit D	leucine rich repeat containing 8 family member D	Symbol and/or name change	5135510	APPROVED
2016-06-07	LRRC8D	leucine rich repeat containing 8 family member D	leucine-rich repeat containing 8 family member D	Symbol and/or name change	5135510	APPROVED
2015-11-24	LRRC8D	leucine-rich repeat containing 8 family member D	leucine rich repeat containing 8 family, member D	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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