TSPAN8 (tetraspanin 8) - Rat Genome Database

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Gene: TSPAN8 (tetraspanin 8) Homo sapiens
Analyze
Symbol: TSPAN8
Name: tetraspanin 8
RGD ID: 736010
HGNC Page HGNC:11855
Description: Predicted to enable integrin binding activity. Predicted to be involved in negative regulation of blood coagulation. Predicted to act upstream of or within regulation of gene expression and spermatogenesis. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CO-029; tetraspanin-8; TM4SF3; transmembrane 4 superfamily member 3; tspan-8; tumor-associated antigen CO-029
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
GRCh381271,125,096 - 71,157,999 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1271,125,085 - 71,441,898 (-)EnsemblGRCh38hg38GRCh38
GRCh371271,518,876 - 71,551,779 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361269,805,144 - 69,838,046 (-)NCBINCBI36Build 36hg18NCBI36
Build 341269,805,143 - 69,838,046NCBI
Celera1271,182,199 - 71,215,102 (-)NCBICelera
Cytogenetic Map12q21.1NCBI
HuRef1268,568,317 - 68,601,483 (-)NCBIHuRef
CHM1_11271,488,354 - 71,521,249 (-)NCBICHM1_1
T2T-CHM13v2.01271,104,602 - 71,137,962 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
diclofenac  (ISO)
dicrotophos  (EXP)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
indole-3-methanol  (ISO)
inulin  (ISO)
irinotecan  (EXP)
itraconazole  (ISO)
ketoconazole  (ISO)
kojic acid  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
methapyrilene  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
propanal  (EXP)
quercetin  (EXP)
resveratrol  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sulindac sulfide  (EXP)
T-2 toxin  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
tributylstannane  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Assessment of gene expression profiles in peripheral occlusive arterial disease. Bubenek S, etal., Can J Cardiol. 2012 Nov-Dec;28(6):712-20. doi: 10.1016/j.cjca.2012.03.013. Epub 2012 Jun 19.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2395876   PMID:8125298   PMID:8661157   PMID:10229664   PMID:11690710   PMID:11739647   PMID:12477932   PMID:12939584   PMID:15489334   PMID:17579117   PMID:18317468   PMID:18365756  
PMID:18372903   PMID:18567820   PMID:18591388   PMID:18714373   PMID:19020323   PMID:19020324   PMID:19247373   PMID:19324937   PMID:19502414   PMID:19602701   PMID:19670153   PMID:19720844  
PMID:19741467   PMID:19794065   PMID:19833888   PMID:19833889   PMID:19862325   PMID:19933996   PMID:20052686   PMID:20075150   PMID:20161779   PMID:20203524   PMID:20360734   PMID:20379614  
PMID:20490451   PMID:20571754   PMID:20581827   PMID:20712903   PMID:20816152   PMID:20879858   PMID:20889853   PMID:20927120   PMID:20937409   PMID:21081927   PMID:21873635   PMID:22679508  
PMID:23533145   PMID:25261323   PMID:25680464   PMID:25711980   PMID:26562525   PMID:26649804   PMID:27180358   PMID:27270327   PMID:27339400   PMID:27375018   PMID:27996312   PMID:28188308  
PMID:28408484   PMID:28418857   PMID:28777493   PMID:29345284   PMID:30159900   PMID:30679790   PMID:30706227   PMID:30982971   PMID:31253779   PMID:31790687   PMID:31838484   PMID:32138170  
PMID:32195353   PMID:32296183   PMID:32698071   PMID:33067209   PMID:33660365   PMID:33674603   PMID:33961781   PMID:34163029   PMID:34600553   PMID:34796683   PMID:35197608   PMID:35904232  
PMID:36084547   PMID:36217029   PMID:36951301   PMID:37535246   PMID:38430035   PMID:38861838   PMID:39031113  


Genomics

Comparative Map Data
TSPAN8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381271,125,096 - 71,157,999 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1271,125,085 - 71,441,898 (-)EnsemblGRCh38hg38GRCh38
GRCh371271,518,876 - 71,551,779 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361269,805,144 - 69,838,046 (-)NCBINCBI36Build 36hg18NCBI36
Build 341269,805,143 - 69,838,046NCBI
Celera1271,182,199 - 71,215,102 (-)NCBICelera
Cytogenetic Map12q21.1NCBI
HuRef1268,568,317 - 68,601,483 (-)NCBIHuRef
CHM1_11271,488,354 - 71,521,249 (-)NCBICHM1_1
T2T-CHM13v2.01271,104,602 - 71,137,962 (-)NCBIT2T-CHM13v2.0
Tspan8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910115,652,722 - 115,685,798 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10115,652,737 - 115,685,798 (+)EnsemblGRCm39 Ensembl
GRCm3810115,816,817 - 115,849,893 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10115,816,832 - 115,849,893 (+)EnsemblGRCm38mm10GRCm38
MGSCv3710115,254,340 - 115,286,949 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610115,221,394 - 115,253,726 (+)NCBIMGSCv36mm8
Celera10117,748,806 - 117,782,287 (+)NCBICelera
Cytogenetic Map10D2NCBI
cM Map1063.51NCBI
Tspan8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8753,331,019 - 53,365,402 (+)NCBIGRCr8
mRatBN7.2751,444,946 - 51,479,360 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl751,445,074 - 51,479,356 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx753,351,868 - 53,386,094 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0755,554,937 - 55,589,176 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0755,332,961 - 55,367,187 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0758,814,805 - 58,847,564 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl758,814,805 - 58,847,563 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0758,821,787 - 58,854,525 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4755,104,257 - 55,136,906 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1755,124,986 - 55,157,635 (+)NCBI
Celera748,232,246 - 48,265,180 (+)NCBICelera
Cytogenetic Map7q22NCBI
Tspan8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540511,199,280 - 11,232,955 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540511,200,290 - 11,233,094 (-)NCBIChiLan1.0ChiLan1.0
TSPAN8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21079,158,701 - 79,407,526 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11279,155,101 - 79,403,926 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01268,653,209 - 68,686,565 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11271,417,577 - 71,450,873 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1271,417,577 - 71,450,873 (-)Ensemblpanpan1.1panPan2
TSPAN8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11012,786,824 - 12,818,257 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1012,786,867 - 12,818,088 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1012,725,247 - 12,756,661 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01012,919,135 - 12,950,691 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1012,919,178 - 12,950,562 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11012,784,319 - 12,816,660 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01013,031,549 - 13,062,936 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01013,155,666 - 13,187,030 (-)NCBIUU_Cfam_GSD_1.0
Tspan8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494545,408,788 - 45,442,759 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936568285,696 - 311,864 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936568285,130 - 304,479 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSPAN8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl535,240,715 - 35,321,845 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1535,210,744 - 35,482,788 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2537,839,246 - 37,889,811 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TSPAN8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11166,726,714 - 66,882,234 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1166,725,231 - 66,758,091 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037178,902,512 - 178,937,777 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tspan8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475026,633,793 - 26,669,980 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475026,634,019 - 26,668,779 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TSPAN8
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1 copy number loss See cases [RCV000051313] Chr12:70337484..81761145 [GRCh38]
Chr12:70731264..82154924 [GRCh37]
Chr12:69017531..80679055 [NCBI36]
Chr12:12q15-21.31		 pathogenic
GRCh38/hg38 12q15-21.2(chr12:70390897-79214318)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051314]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051314]|See cases [RCV000051314] Chr12:70390897..79214318 [GRCh38]
Chr12:70784677..79608098 [GRCh37]
Chr12:69070944..78132229 [NCBI36]
Chr12:12q15-21.2		 pathogenic
NM_004616.2(TSPAN8):c.414C>T (p.Phe138=) single nucleotide variant Malignant melanoma [RCV000062593] Chr12:71137983 [GRCh38]
Chr12:71531763 [GRCh37]
Chr12:69818030 [NCBI36]
Chr12:12q21.1		 not provided
NM_004616.2(TSPAN8):c.343C>T (p.Arg115Cys) single nucleotide variant Malignant melanoma [RCV000062594] Chr12:71138054 [GRCh38]
Chr12:71531834 [GRCh37]
Chr12:69818101 [NCBI36]
Chr12:12q21.1		 not provided
GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1 copy number loss See cases [RCV000135587] Chr12:68011417..75383054 [GRCh38]
Chr12:68405197..75776834 [GRCh37]
Chr12:66691464..74063101 [NCBI36]
Chr12:12q15-21.2		 likely pathogenic|uncertain significance
GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1 copy number loss See cases [RCV000136267] Chr12:69769737..76964217 [GRCh38]
Chr12:70163517..77357997 [GRCh37]
Chr12:68449784..75882128 [NCBI36]
Chr12:12q15-21.2		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_004616.3(TSPAN8):c.528T>A (p.Asp176Glu) single nucleotide variant Breast ductal adenocarcinoma [RCV000207126] Chr12:71132741 [GRCh38]
Chr12:71526521 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1 copy number loss See cases [RCV000511179] Chr12:70575476..73344659 [GRCh37]
Chr12:12q15-21.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1 copy number loss not provided [RCV000737927] Chr12:69608090..89629345 [GRCh37]
Chr12:12q15-21.33		 pathogenic
GRCh37/hg19 12q15-21.1(chr12:71398955-71539915)x3 copy number gain not provided [RCV000750454] Chr12:71398955..71539915 [GRCh37]
Chr12:12q15-21.1		 benign
GRCh37/hg19 12q21.1(chr12:71551461-71593041)x3 copy number gain not provided [RCV000750455] Chr12:71551461..71593041 [GRCh37]
Chr12:12q21.1		 benign
NM_004616.3(TSPAN8):c.661-6C>T single nucleotide variant not provided [RCV000960936] Chr12:71125393 [GRCh38]
Chr12:71519173 [GRCh37]
Chr12:12q21.1		 benign
NM_004616.3(TSPAN8):c.103G>A (p.Val35Ile) single nucleotide variant not provided [RCV000881525] Chr12:71144171 [GRCh38]
Chr12:71537951 [GRCh37]
Chr12:12q21.1		 benign
NM_004616.3(TSPAN8):c.258G>A (p.Leu86=) single nucleotide variant not provided [RCV000960937] Chr12:71139714 [GRCh38]
Chr12:71533494 [GRCh37]
Chr12:12q21.1		 benign
NM_004616.3(TSPAN8):c.171C>T (p.Asp57=) single nucleotide variant not provided [RCV000960938] Chr12:71139801 [GRCh38]
Chr12:71533581 [GRCh37]
Chr12:12q21.1		 benign
GRCh37/hg19 12q15-21.1(chr12:71081550-73526446)x1 copy number loss not provided [RCV000848737] Chr12:71081550..73526446 [GRCh37]
Chr12:12q15-21.1		 uncertain significance
NM_004616.3(TSPAN8):c.160G>A (p.Val54Ile) single nucleotide variant not provided [RCV000881702] Chr12:71139812 [GRCh38]
Chr12:71533592 [GRCh37]
Chr12:12q21.1		 benign
GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1 copy number loss not provided [RCV001537907] Chr12:65251705..75263379 [GRCh37]
Chr12:12q14.3-21.1		 pathogenic
GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1 copy number loss not provided [RCV001834178] Chr12:70084476..77065764 [GRCh37]
Chr12:12q15-21.2		 pathogenic
NM_004616.3(TSPAN8):c.10G>C (p.Val4Leu) single nucleotide variant not specified [RCV004103632] Chr12:71157669 [GRCh38]
Chr12:71551449 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.91A>G (p.Ile31Val) single nucleotide variant not specified [RCV004143552] Chr12:71144183 [GRCh38]
Chr12:71537963 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.703G>A (p.Gly235Arg) single nucleotide variant not specified [RCV004182240] Chr12:71125345 [GRCh38]
Chr12:71519125 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.96G>T (p.Trp32Cys) single nucleotide variant not specified [RCV004149095] Chr12:71144178 [GRCh38]
Chr12:71537958 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.226G>A (p.Gly76Ser) single nucleotide variant not specified [RCV004232874] Chr12:71139746 [GRCh38]
Chr12:71533526 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.457G>A (p.Gly153Ser) single nucleotide variant not specified [RCV004130450] Chr12:71132812 [GRCh38]
Chr12:71526592 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.346A>G (p.Ile116Val) single nucleotide variant not specified [RCV004154486] Chr12:71138051 [GRCh38]
Chr12:71531831 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.536G>C (p.Arg179Thr) single nucleotide variant not specified [RCV004076407] Chr12:71132733 [GRCh38]
Chr12:71526513 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.269T>C (p.Ile90Thr) single nucleotide variant not specified [RCV004171872] Chr12:71138223 [GRCh38]
Chr12:71532003 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.245G>A (p.Arg82His) single nucleotide variant not specified [RCV004258206] Chr12:71139727 [GRCh38]
Chr12:71533507 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.608C>A (p.Ala203Glu) single nucleotide variant not specified [RCV004355260] Chr12:71129383 [GRCh38]
Chr12:71523163 [GRCh37]
Chr12:12q21.1		 uncertain significance
GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1 copy number loss not specified [RCV003986991] Chr12:69498859..74073631 [GRCh37]
Chr12:12q15-21.1		 likely pathogenic
NM_004616.3(TSPAN8):c.420A>C (p.Glu140Asp) single nucleotide variant not specified [RCV004476668] Chr12:71137977 [GRCh38]
Chr12:71531757 [GRCh37]
Chr12:12q21.1		 uncertain significance
NM_004616.3(TSPAN8):c.487A>G (p.Asn163Asp) single nucleotide variant not specified [RCV004680469] Chr12:71132782 [GRCh38]
Chr12:71526562 [GRCh37]
Chr12:12q21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:683
Count of miRNA genes:431
Interacting mature miRNAs:456
Transcripts:ENST00000247829, ENST00000393330, ENST00000546561, ENST00000549421, ENST00000550818, ENST00000552128, ENST00000552786
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597207513GWAS1303587_Hadult onset asthma QTL GWAS1303587 (human)0.0000007adult onset asthma127113943071139431Human
597058773GWAS1154847_Hrespiratory system disease QTL GWAS1154847 (human)3e-09respiratory system disease127113945871139459Human
597207676GWAS1303750_Heyelid sagging measurement QTL GWAS1303750 (human)0.000002eyelid sagging measurement127113263471132635Human
597087184GWAS1183258_Htype 2 diabetes mellitus QTL GWAS1183258 (human)7e-19type 2 diabetes mellitus127112698171126982Human
597341244GWAS1437318_Hasthma QTL GWAS1437318 (human)2e-08asthma127113945871139459Human
597333234GWAS1429308_Hasthma QTL GWAS1429308 (human)1e-09asthma127113026271130263Human
597247536GWAS1343610_Hasthma QTL GWAS1343610 (human)1e-10asthma127113945871139459Human
597100122GWAS1196196_Hsex hormone-binding globulin measurement QTL GWAS1196196 (human)1e-08sex hormone-binding globulin measurement127112995171129952Human
597096804GWAS1192878_Hsex hormone-binding globulin measurement QTL GWAS1192878 (human)0.0000002sex hormone-binding globulin measurement127112995171129952Human
407252720GWAS901696_Hasthma QTL GWAS901696 (human)2e-09asthma127113945871139459Human
597164879GWAS1260953_Hasthma QTL GWAS1260953 (human)4e-08asthma127113945871139459Human
597208352GWAS1304426_Hchildhood onset asthma QTL GWAS1304426 (human)4e-08childhood onset asthma127113943071139431Human
597144143GWAS1240217_HDrugs used in diabetes use measurement QTL GWAS1240217 (human)2e-11Drugs used in diabetes use measurement127114599171145992Human
597089900GWAS1185974_Htype 2 diabetes mellitus QTL GWAS1185974 (human)1e-17type 2 diabetes mellitus127112926371129264Human
597617794GWAS1674654_Hintracranial hemorrhage QTL GWAS1674654 (human)3e-11intracranial hemorrhage127114408971144090Human
406952317GWAS601293_Hparental longevity QTL GWAS601293 (human)0.000008total life span (VT:0001661)127115626871156269Human
407304504GWAS953480_Hasthma QTL GWAS953480 (human)2e-12asthma127112935471129355Human
597035881GWAS1131955_Htype 2 diabetes mellitus QTL GWAS1131955 (human)2e-14type 2 diabetes mellitus127112917371129174Human

Markers in Region
G63461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371271,548,130 - 71,548,259UniSTSGRCh37
Build 361269,834,397 - 69,834,526RGDNCBI36
Celera1271,211,453 - 71,211,582RGD
Cytogenetic Map12q14.1-q21.1UniSTS
HuRef1268,597,834 - 68,597,963UniSTS
TNG Radiation Hybrid Map1234249.0UniSTS
D12S1465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371271,518,972 - 71,519,125UniSTSGRCh37
Build 361269,805,239 - 69,805,392RGDNCBI36
Celera1271,182,294 - 71,182,447RGD
Cytogenetic Map12q14.1-q21.1UniSTS
HuRef1268,568,412 - 68,568,565UniSTS
GeneMap99-GB4 RH Map12299.65UniSTS
Whitehead-RH Map12398.0UniSTS
D12S1964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371271,518,972 - 71,519,085UniSTSGRCh37
Build 361269,805,239 - 69,805,352RGDNCBI36
Celera1271,182,294 - 71,182,407RGD
Cytogenetic Map12q14.1-q21.1UniSTS
HuRef1268,568,412 - 68,568,525UniSTS
Whitehead-YAC Contig Map12 UniSTS


Expression

RNA-SEQ Expression

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
1204 2424 2788 2220 4707 1709 2297 3 624 1143 465 2076 6429 5642 35 3659 1 803 1696 1563 168

Sequence


Ensembl Acc Id: ENST00000247829   ⟹   ENSP00000247829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1271,125,096 - 71,157,999 (-)Ensembl
Ensembl Acc Id: ENST00000393330   ⟹   ENSP00000377003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1271,125,085 - 71,441,898 (-)Ensembl
Ensembl Acc Id: ENST00000546561   ⟹   ENSP00000447160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1271,125,101 - 71,157,899 (-)Ensembl
Ensembl Acc Id: ENST00000549421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1271,157,748 - 71,315,756 (-)Ensembl
Ensembl Acc Id: ENST00000550818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1271,157,231 - 71,157,999 (-)Ensembl
Ensembl Acc Id: ENST00000552128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1271,125,153 - 71,139,275 (-)Ensembl
Ensembl Acc Id: ENST00000552786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1271,139,833 - 71,157,973 (-)Ensembl
RefSeq Acc Id: NM_001369760   ⟹   NP_001356689
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381271,125,096 - 71,157,809 (-)NCBI
T2T-CHM13v2.01271,104,602 - 71,137,772 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004616   ⟹   NP_004607
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381271,125,096 - 71,157,999 (-)NCBI
GRCh371271,518,877 - 71,551,779 (-)ENTREZGENE
Build 361269,805,144 - 69,838,046 (-)NCBI Archive
HuRef1268,568,317 - 68,601,483 (-)ENTREZGENE
CHM1_11271,488,354 - 71,521,249 (-)NCBI
T2T-CHM13v2.01271,104,602 - 71,137,962 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054373114   ⟹   XP_054229089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01271,104,602 - 71,137,852 (-)NCBI
RefSeq Acc Id: NP_004607   ⟸   NM_004616
- UniProtKB: P19075 (UniProtKB/Swiss-Prot),   B2R7T7 (UniProtKB/Swiss-Prot),   Q9BS78 (UniProtKB/Swiss-Prot),   Q53GA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001356689   ⟸   NM_001369760
- UniProtKB: P19075 (UniProtKB/Swiss-Prot),   B2R7T7 (UniProtKB/Swiss-Prot),   Q9BS78 (UniProtKB/Swiss-Prot),   Q53GA9 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000447160   ⟸   ENST00000546561
Ensembl Acc Id: ENSP00000247829   ⟸   ENST00000247829
Ensembl Acc Id: ENSP00000377003   ⟸   ENST00000393330
RefSeq Acc Id: XP_054229089   ⟸   XM_054373114
- Peptide Label: isoform X1
- UniProtKB: P19075 (UniProtKB/Swiss-Prot),   B2R7T7 (UniProtKB/Swiss-Prot),   Q9BS78 (UniProtKB/Swiss-Prot),   Q53GA9 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P19075-F1-model_v2 AlphaFold P19075 1-237 view protein structure

Promoters
RGD ID:6790573
Promoter ID:HG_KWN:16153
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_004616,   UC009ZRT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361269,837,806 - 69,838,306 (-)MPROMDB
RGD ID:6851556
Promoter ID:EP73579
Type:initiation region
Name:HS_TM4SF3
Description:Transmembrane 4 superfamily member 3.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361269,837,851 - 69,837,911EPD
RGD ID:7224819
Promoter ID:EPDNEW_H18154
Type:initiation region
Name:TSPAN8_3
Description:tetraspanin 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18155  EPDNEW_H18158  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381271,157,804 - 71,157,864EPDNEW
RGD ID:7224817
Promoter ID:EPDNEW_H18155
Type:initiation region
Name:TSPAN8_1
Description:tetraspanin 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18154  EPDNEW_H18158  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381271,157,999 - 71,158,059EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11855 AgrOrtholog
COSMIC TSPAN8 COSMIC
Ensembl Genes ENSG00000127324 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000247829 ENTREZGENE
  ENST00000247829.8 UniProtKB/Swiss-Prot
  ENST00000393330.6 UniProtKB/Swiss-Prot
  ENST00000546561 ENTREZGENE
  ENST00000546561.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1450.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000127324 GTEx
HGNC ID HGNC:11855 ENTREZGENE
Human Proteome Map TSPAN8 Human Proteome Map
InterPro Tetraspanin UniProtKB/Swiss-Prot
  Tetraspanin/Peripherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tetraspanin_animals UniProtKB/TrEMBL
  Tetraspanin_CS UniProtKB/Swiss-Prot
  Tetraspanin_EC2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7103 UniProtKB/Swiss-Prot
NCBI Gene 7103 ENTREZGENE
OMIM 600769 OMIM
PANTHER PTHR19282 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TETRASPANIN-8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tetraspanin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36556 PharmGKB
PIRSF Tetraspanin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS TMFOUR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TM4_1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48652 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R7T7 ENTREZGENE
  P19075 ENTREZGENE
  Q53GA9 ENTREZGENE, UniProtKB/TrEMBL
  Q9BS78 ENTREZGENE
  TSN8_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R7T7 UniProtKB/Swiss-Prot
  Q9BS78 UniProtKB/Swiss-Prot