LRRC8D (leucine rich repeat containing 8 VRAC subunit D) - Rat Genome Database

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Gene: LRRC8D (leucine rich repeat containing 8 VRAC subunit D) Homo sapiens
Analyze
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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38189,821,032 - 89,936,611 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl189,821,014 - 89,936,611 (+)EnsemblGRCh38hg38GRCh38
GRCh37190,286,591 - 90,402,170 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36190,060,101 - 90,174,148 (+)NCBINCBI36Build 36hg18NCBI36
Build 34189,999,533 - 90,113,580NCBI
Celera188,532,275 - 88,647,680 (+)NCBICelera
Cytogenetic Map1p22.2NCBI
HuRef188,403,943 - 88,519,276 (+)NCBIHuRef
CHM1_1190,401,923 - 90,517,356 (+)NCBICHM1_1
T2T-CHM13v2.0189,664,217 - 89,779,829 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     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)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cobalt dichloride  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
diazinon  (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  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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 AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38189,821,032 - 89,936,611 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl189,821,014 - 89,936,611 (+)EnsemblGRCh38hg38GRCh38
GRCh37190,286,591 - 90,402,170 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36190,060,101 - 90,174,148 (+)NCBINCBI36Build 36hg18NCBI36
Build 34189,999,533 - 90,113,580NCBI
Celera188,532,275 - 88,647,680 (+)NCBICelera
Cytogenetic Map1p22.2NCBI
HuRef188,403,943 - 88,519,276 (+)NCBIHuRef
CHM1_1190,401,923 - 90,517,356 (+)NCBICHM1_1
T2T-CHM13v2.0189,664,217 - 89,779,829 (+)NCBIT2T-CHM13v2.0
Lrrc8d
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395105,847,829 - 105,963,081 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5105,847,835 - 105,980,302 (+)EnsemblGRCm39 Ensembl
GRCm385105,699,963 - 105,815,215 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5105,699,969 - 105,832,436 (+)EnsemblGRCm38mm10GRCm38
MGSCv375106,128,988 - 106,244,234 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365105,934,781 - 106,055,512 (+)NCBIMGSCv36mm8
Celera5102,815,568 - 102,929,479 (+)NCBICelera
Cytogenetic Map5E5NCBI
cM Map550.68NCBI
Lrrc8d
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8144,335,114 - 4,411,549 (-)NCBIGRCr8
mRatBN7.2144,029,971 - 4,134,922 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl144,029,473 - 4,135,877 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx144,031,137 - 4,046,274 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0145,331,273 - 5,346,414 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0144,034,927 - 4,050,056 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0145,085,606 - 5,194,808 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl145,086,054 - 5,101,177 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0145,077,476 - 5,157,358 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4145,104,878 - 5,120,038 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1145,104,878 - 5,120,038 (-)NCBI
Celera144,193,278 - 4,208,420 (-)NCBICelera
Cytogenetic Map14p22NCBI
Lrrc8d
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554234,237,651 - 4,240,227 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554234,237,263 - 4,360,352 (-)NCBIChiLan1.0ChiLan1.0
LRRC8D
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21137,088,794 - 137,203,964 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11136,244,564 - 136,359,775 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0192,481,871 - 92,606,922 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1191,232,146 - 91,346,539 (+)NCBIpanpan1.1PanPan1.1panPan2
LRRC8D
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1658,692,352 - 58,805,004 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl658,692,792 - 58,695,368 (-)NCBICanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha661,401,528 - 61,514,644 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0659,086,742 - 59,089,777 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl659,086,746 - 59,111,772 (-)NCBIROS_Cfam_1.0 Ensembl
ROS_Cfam_1.0 Ensembl659,086,746 - 59,111,772 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1658,777,879 - 58,890,397 (-)NCBIUMICH_Zoey_3.1
UU_Cfam_GSD_1.0659,211,040 - 59,323,995 (-)NCBIUU_Cfam_GSD_1.0
Lrrc8d
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505899,984,575 - 100,097,562 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365378,850,411 - 8,963,448 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365378,850,411 - 8,963,601 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRRC8D
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4126,766,211 - 126,874,275 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14126,751,720 - 126,883,344 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24138,807,385 - 138,915,877 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRRC8D
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12043,542,451 - 43,659,465 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2043,542,806 - 43,545,382 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603374,274,555 - 74,391,546 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrrc8d
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247427,822,880 - 7,946,087 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247427,822,880 - 7,947,731 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRRC8D
19 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 Inborn genetic diseases [RCV003242047] Chr1:89933765 [GRCh38]
Chr1:90399324 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001134479.2(LRRC8D):c.361G>A (p.Ala121Thr) single nucleotide variant Inborn genetic diseases [RCV003260425] Chr1:89933429 [GRCh38]
Chr1:90398988 [GRCh37]
Chr1:1p22.2		 likely benign
NM_001134479.2(LRRC8D):c.1709A>G (p.Asn570Ser) single nucleotide variant Inborn genetic diseases [RCV003244850] 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 Inborn genetic diseases [RCV002689151] Chr1:89933280 [GRCh38]
Chr1:90398839 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001134479.2(LRRC8D):c.2341A>C (p.Asn781His) single nucleotide variant Inborn genetic diseases [RCV002794153] Chr1:89935409 [GRCh38]
Chr1:90400968 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001134479.2(LRRC8D):c.1110A>G (p.Ile370Met) single nucleotide variant Inborn genetic diseases [RCV002793623] Chr1:89934178 [GRCh38]
Chr1:90399737 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001134479.2(LRRC8D):c.2008A>T (p.Ile670Phe) single nucleotide variant Inborn genetic diseases [RCV002849244] Chr1:89935076 [GRCh38]
Chr1:90400635 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001134479.2(LRRC8D):c.521T>G (p.Ile174Ser) single nucleotide variant Inborn genetic diseases [RCV002844147] Chr1:89933589 [GRCh38]
Chr1:90399148 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001134479.2(LRRC8D):c.994G>A (p.Ala332Thr) single nucleotide variant Inborn genetic diseases [RCV002674220] Chr1:89934062 [GRCh38]
Chr1:90399621 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001134479.2(LRRC8D):c.233A>G (p.Asn78Ser) single nucleotide variant Inborn genetic diseases [RCV002855701] Chr1:89933301 [GRCh38]
Chr1:90398860 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001134479.2(LRRC8D):c.2435G>A (p.Arg812His) single nucleotide variant Inborn genetic diseases [RCV002725188] Chr1:89935503 [GRCh38]
Chr1:90401062 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001134479.2(LRRC8D):c.1396C>T (p.Arg466Cys) single nucleotide variant Inborn genetic diseases [RCV003218128] Chr1:89934464 [GRCh38]
Chr1:90400023 [GRCh37]
Chr1:1p22.2		 uncertain significance
NM_001134479.2(LRRC8D):c.1856A>G (p.His619Arg) single nucleotide variant Inborn genetic diseases [RCV003203194] 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
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.

Markers in Region
RH118438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37190,370,895 - 90,371,192UniSTSGRCh37
Build 36190,143,483 - 90,143,780RGDNCBI36
Celera188,616,584 - 88,616,881RGD
Cytogenetic Map1p22.2UniSTS
HuRef188,488,180 - 88,488,477UniSTS
TNG Radiation Hybrid Map195692.0UniSTS
SHGC-110361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37190,329,960 - 90,330,237UniSTSGRCh37
Build 36190,102,548 - 90,102,825RGDNCBI36
Celera188,575,651 - 88,575,928RGD
Cytogenetic Map1p22.2UniSTS
HuRef188,447,251 - 88,447,528UniSTS
TNG Radiation Hybrid Map195671.0UniSTS
SHGC-112470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37190,378,736 - 90,379,006UniSTSGRCh37
Build 36190,151,324 - 90,151,594RGDNCBI36
Celera188,624,425 - 88,624,695RGD
Cytogenetic Map1p22.2UniSTS
HuRef188,496,021 - 88,496,291UniSTS
TNG Radiation Hybrid Map195722.0UniSTS
SHGC-75120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37190,401,339 - 90,401,530UniSTSGRCh37
Build 36190,173,927 - 90,174,118RGDNCBI36
Celera188,647,028 - 88,647,219RGD
Cytogenetic Map1p22.2UniSTS
HuRef188,518,624 - 88,518,815UniSTS
TNG Radiation Hybrid Map195743.0UniSTS
GeneMap99-GB4 RH Map1250.79UniSTS
NCBI RH Map1616.1UniSTS
LRRC5_9879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37190,400,853 - 90,401,648UniSTSGRCh37
Build 36190,173,441 - 90,174,236RGDNCBI36
Celera188,646,542 - 88,647,337RGD
HuRef188,518,138 - 88,518,933UniSTS


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 498 126 1285 317 1192 207 803 112 2287 274 544 924 121 15 494 3
Low 1937 2847 439 306 755 257 3551 2072 1421 145 904 685 49 1189 2293 1 1
Below cutoff 2 11 2 1 3 1 1 9 13 7 2 3 1 1 1 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

Reference Sequences
RefSeq Acc Id: ENST00000337338   ⟹   ENSP00000338887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,821,032 - 89,936,611 (+)Ensembl
RefSeq Acc Id: ENST00000394593   ⟹   ENSP00000378093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,821,921 - 89,936,001 (+)Ensembl
RefSeq Acc Id: ENST00000414841   ⟹   ENSP00000415117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,843,048 - 89,933,418 (+)Ensembl
RefSeq Acc Id: ENST00000441269   ⟹   ENSP00000405784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,846,580 - 89,933,892 (+)Ensembl
RefSeq Acc Id: ENST00000525774   ⟹   ENSP00000435609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,821,014 - 89,933,160 (+)Ensembl
RefSeq Acc Id: ENST00000527156   ⟹   ENSP00000433422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,843,423 - 89,933,628 (+)Ensembl
RefSeq Acc Id: ENST00000532201   ⟹   ENSP00000435504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,833,693 - 89,933,433 (+)Ensembl
RefSeq Acc Id: NM_001134479   ⟹   NP_001127951
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,032 - 89,936,611 (+)NCBI
GRCh37190,286,573 - 90,401,991 (+)RGD
Celera188,532,275 - 88,647,680 (+)RGD
HuRef188,403,943 - 88,519,276 (+)ENTREZGENE
CHM1_1190,401,923 - 90,517,356 (+)NCBI
T2T-CHM13v2.0189,664,271 - 89,779,829 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018103   ⟹   NP_060573
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,939 - 89,936,611 (+)NCBI
GRCh37190,286,573 - 90,401,991 (+)RGD
Build 36190,060,101 - 90,174,148 (+)NCBI Archive
Celera188,532,275 - 88,647,680 (+)RGD
HuRef188,403,943 - 88,519,276 (+)ENTREZGENE
CHM1_1190,402,824 - 90,517,356 (+)NCBI
T2T-CHM13v2.0189,665,172 - 89,779,829 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541689   ⟹   XP_011539991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,032 - 89,936,611 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423940   ⟹   XP_047279896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,032 - 89,936,611 (+)NCBI
RefSeq Acc Id: XM_047423943   ⟹   XP_047279899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,032 - 89,936,611 (+)NCBI
RefSeq Acc Id: XM_047423944   ⟹   XP_047279900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,032 - 89,936,611 (+)NCBI
RefSeq Acc Id: XM_047423946   ⟹   XP_047279902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,939 - 89,936,611 (+)NCBI
RefSeq Acc Id: XM_047423947   ⟹   XP_047279903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,032 - 89,936,611 (+)NCBI
RefSeq Acc Id: XM_047423950   ⟹   XP_047279906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,939 - 89,936,611 (+)NCBI
RefSeq Acc Id: XM_047423953   ⟹   XP_047279909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,032 - 89,936,611 (+)NCBI
RefSeq Acc Id: XM_047423954   ⟹   XP_047279910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,939 - 89,936,611 (+)NCBI
RefSeq Acc Id: XM_047423956   ⟹   XP_047279912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,821,032 - 89,936,611 (+)NCBI
RefSeq Acc Id: XM_047423961   ⟹   XP_047279917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,911,537 - 89,936,611 (+)NCBI
RefSeq Acc Id: XM_054337344   ⟹   XP_054193319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,664,217 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337345   ⟹   XP_054193320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,669,742 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337346   ⟹   XP_054193321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,685,480 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337347   ⟹   XP_054193322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,664,271 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337348   ⟹   XP_054193323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,664,271 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337349   ⟹   XP_054193324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,664,271 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337350   ⟹   XP_054193325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,665,172 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337351   ⟹   XP_054193326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,664,639 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337352   ⟹   XP_054193327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,665,172 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337353   ⟹   XP_054193328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,664,877 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337354   ⟹   XP_054193329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,665,172 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337355   ⟹   XP_054193330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,664,877 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337356   ⟹   XP_054193331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,685,480 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337357   ⟹   XP_054193332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,669,742 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337358   ⟹   XP_054193333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,767,813 - 89,779,829 (+)NCBI
RefSeq Acc Id: XM_054337359   ⟹   XP_054193334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,686,437 - 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  
Reference Protein Sequences
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:
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:
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:
RefSeq Acc Id: ENSP00000415117   ⟸   ENST00000414841
RefSeq Acc Id: ENSP00000435504   ⟸   ENST00000532201
RefSeq Acc Id: ENSP00000338887   ⟸   ENST00000337338
RefSeq Acc Id: ENSP00000405784   ⟸   ENST00000441269
RefSeq Acc Id: ENSP00000435609   ⟸   ENST00000525774
RefSeq Acc Id: ENSP00000378093   ⟸   ENST00000394593
RefSeq 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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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 AssemblyChrPosition (strand)Source
GRCh38189,821,939 - 89,821,999EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh38189,841,208 - 89,841,268EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh38189,843,166 - 89,843,226EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh38189,843,451 - 89,843,511EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh38189,843,655 - 89,843,715EPDNEW
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 AssemblyChrPosition (strand)Source
GRCh38189,844,214 - 89,844,274EPDNEW
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 AssemblyChrPosition (strand)Source
Build 36190,058,796 - 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 AssemblyChrPosition (strand)Source
Build 36190,059,071 - 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 AssemblyChrPosition (strand)Source
Build 36190,081,389 - 90,081,889 (+)MPROMDB

Additional Information

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
  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 Symbol 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