CD70 (CD70 molecule) - Rat Genome Database

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Gene: CD70 (CD70 molecule) Homo sapiens
Analyze
Symbol: CD70
Name: CD70 molecule
RGD ID: 1351721
HGNC Page HGNC:11937
Description: Enables receptor ligand activity. Involved in several processes, including B cell proliferation; adaptive immune memory response involving T cells and B cells; and cell surface receptor signaling pathway. Located in extracellular exosome. Is active in plasma membrane. Implicated in lymphoproliferative syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD27 ligand; CD27-L; CD27L; CD27LG; CD70 antigen; Ki-24 antigen; LPFS3; surface antigen CD70; TNFSF7; TNLG8A; tumor necrosis factor (ligand) superfamily, member 7; tumor necrosis factor ligand 8A; tumor necrosis factor ligand superfamily member 7
RGD Orthologs
Mouse
Rat
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
GRCh38196,581,648 - 6,591,150 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,583,183 - 6,604,103 (-)EnsemblGRCh38hg38GRCh38
GRCh37196,581,659 - 6,591,161 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,536,850 - 6,542,163 (-)NCBINCBI36Build 36hg18NCBI36
Build 34196,536,850 - 6,542,163NCBI
Celera196,525,685 - 6,531,003 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef196,346,587 - 6,351,902 (-)NCBIHuRef
CHM1_1196,585,772 - 6,591,088 (-)NCBICHM1_1
T2T-CHM13v2.0196,571,316 - 6,593,751 (-)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
1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,4'-trichlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (EXP)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aripiprazole  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP,ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
copper(II) chloride  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
DDE  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
Dibutyl phosphate  (EXP)
diethylstilbestrol  (ISO)
disodium selenite  (EXP)
diuron  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethyl methanesulfonate  (EXP)
fonofos  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
furosemide  (ISO)
irinotecan  (EXP)
iron atom  (EXP)
iron(0)  (EXP)
isoflurane  (ISO)
ivermectin  (EXP)
lead diacetate  (EXP)
lead(0)  (EXP,ISO)
lipopolysaccharide  (EXP)
methyl methanesulfonate  (EXP)
methylparaben  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
ozone  (EXP)
p-menthan-3-ol  (EXP)
paracetamol  (EXP)
paraquat  (EXP)
parathion  (EXP)
PCB138  (ISO)
pentanal  (EXP)
PF-3758309  (EXP)
pinostrobin  (EXP)
pirinixic acid  (EXP)
potassium dichromate  (ISO)
propanal  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sulforaphane  (EXP)
temozolomide  (EXP)
terbufos  (EXP)
thapsigargin  (EXP)
thiram  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triphenylstannane  (EXP)
triptonide  (ISO)
usnic acid  (EXP)
valproic acid  (EXP,ISO)
vemurafenib  (EXP)
VX nerve agent  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
extracellular exosome  (HDA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2163351   PMID:7479974   PMID:7706711   PMID:8120384   PMID:8120385   PMID:8186199   PMID:8387892   PMID:8580829   PMID:8690463   PMID:9177220   PMID:9366422   PMID:9767422  
PMID:9862673   PMID:10800994   PMID:11728341   PMID:11920585   PMID:11980654   PMID:12009595   PMID:12031769   PMID:12100033   PMID:12197885   PMID:12324477   PMID:12477932   PMID:12777399  
PMID:12926832   PMID:15128787   PMID:15153937   PMID:15188362   PMID:15489334   PMID:15723067   PMID:16751420   PMID:16892042   PMID:17132225   PMID:17192395   PMID:17548342   PMID:17615291  
PMID:18216294   PMID:18256142   PMID:19018300   PMID:19029446   PMID:19109206   PMID:19322201   PMID:19380782   PMID:19394279   PMID:19452318   PMID:19556308   PMID:19573080   PMID:19638429  
PMID:19773279   PMID:19955046   PMID:20119871   PMID:20139096   PMID:20201989   PMID:20458337   PMID:20568250   PMID:20628624   PMID:20699361   PMID:20724115   PMID:21182090   PMID:21192791  
PMID:21304103   PMID:21490618   PMID:21541792   PMID:21550117   PMID:21865261   PMID:21873635   PMID:21880979   PMID:21917027   PMID:22306512   PMID:22377764   PMID:22399187   PMID:22401771  
PMID:23206232   PMID:23576505   PMID:24238281   PMID:24684541   PMID:26077361   PMID:26186194   PMID:26213107   PMID:26646413   PMID:26671750   PMID:26760575   PMID:27786334   PMID:27803044  
PMID:28011863   PMID:28011864   PMID:28031480   PMID:28514442   PMID:28651374   PMID:28765328   PMID:28789475   PMID:29018507   PMID:29180619   PMID:30237316   PMID:30953940   PMID:32296183  
PMID:32320626   PMID:32427516   PMID:32433612   PMID:32822640   PMID:32849540   PMID:33144569   PMID:33541781   PMID:33845483   PMID:33961781   PMID:33996677   PMID:34186245   PMID:34189576  
PMID:34323938   PMID:34419446   PMID:35216458   PMID:35338135   PMID:35550950   PMID:35696571   PMID:35924558   PMID:36260275   PMID:36471481   PMID:37314216   PMID:37824079   PMID:38030302  
PMID:38064919   PMID:38279834  


Genomics

Comparative Map Data
CD70
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,581,648 - 6,591,150 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,583,183 - 6,604,103 (-)EnsemblGRCh38hg38GRCh38
GRCh37196,581,659 - 6,591,161 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,536,850 - 6,542,163 (-)NCBINCBI36Build 36hg18NCBI36
Build 34196,536,850 - 6,542,163NCBI
Celera196,525,685 - 6,531,003 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef196,346,587 - 6,351,902 (-)NCBIHuRef
CHM1_1196,585,772 - 6,591,088 (-)NCBICHM1_1
T2T-CHM13v2.0196,571,316 - 6,593,751 (-)NCBIT2T-CHM13v2.0
Cd70
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391757,452,997 - 57,456,777 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1757,452,997 - 57,456,777 (-)EnsemblGRCm39 Ensembl
GRCm381757,145,997 - 57,149,777 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1757,145,997 - 57,149,777 (-)EnsemblGRCm38mm10GRCm38
MGSCv371757,285,420 - 57,289,200 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361756,831,330 - 56,835,110 (-)NCBIMGSCv36mm8
Celera1761,495,459 - 61,499,239 (-)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.69NCBI
Cd70
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr892,093,540 - 2,096,692 (-)NCBIGRCr8
mRatBN7.292,006,563 - 2,009,715 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl92,006,563 - 2,009,715 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx92,440,782 - 2,443,934 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.097,790,156 - 7,793,308 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.096,746,009 - 6,749,161 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.099,842,585 - 9,845,728 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl99,842,585 - 9,845,728 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.098,844,883 - 8,848,026 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,508,540 - 6,511,692 (+)NCBICelera
Cytogenetic Map9q11NCBI
CD70
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22010,993,584 - 11,003,753 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11910,218,951 - 10,229,120 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0195,615,056 - 5,621,055 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1196,535,559 - 6,542,310 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl196,535,559 - 6,542,310 (-)Ensemblpanpan1.1panPan2
CD70
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12053,639,315 - 53,642,687 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2053,639,436 - 53,642,319 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2053,386,663 - 53,389,596 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02054,293,471 - 54,296,448 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2054,293,040 - 54,296,476 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12053,360,273 - 53,363,248 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02053,808,582 - 53,811,556 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02054,037,542 - 54,040,520 (+)NCBIUU_Cfam_GSD_1.0
Cd70
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118213,913,063 - 213,916,307 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365883,918,965 - 3,921,720 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365883,918,944 - 3,921,720 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD70
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl272,528,400 - 72,532,951 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1272,528,988 - 72,531,950 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2273,154,180 - 73,157,142 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CD70
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.166,188,720 - 6,202,212 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl66,188,897 - 6,193,652 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660811,796,679 - 1,810,205 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cd70
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248283,720,808 - 3,724,337 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CD70
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 copy number gain See cases [RCV000139338] Chr19:5905175..6916287 [GRCh38]
Chr19:5905186..6916298 [GRCh37]
Chr19:5856186..6867298 [NCBI36]
Chr19:19p13.3-13.2
uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
NM_001252.5(CD70):c.535C>T (p.Arg179Ter) single nucleotide variant Severe combined immunodeficiency due to CD70 deficiency [RCV000735975] Chr19:6586067 [GRCh38]
Chr19:6586078 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001252.5(CD70):c.552CTT[1] (p.Phe186del) microsatellite Severe combined immunodeficiency due to CD70 deficiency [RCV000735977] Chr19:6586045..6586047 [GRCh38]
Chr19:6586056..6586058 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001252.5(CD70):c.250del (p.Ser84fs) deletion Severe combined immunodeficiency due to CD70 deficiency [RCV000735976] Chr19:6586352 [GRCh38]
Chr19:6586363 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3 copy number gain not provided [RCV001007029] Chr19:6246138..6823741 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3 copy number gain not provided [RCV001259930] Chr19:6096399..6699729 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.377C>T (p.Thr126Ile) single nucleotide variant Inborn genetic diseases [RCV004609946] Chr19:6586225 [GRCh38]
Chr19:6586236 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.48G>A (p.Gly16=) single nucleotide variant CD70-related disorder [RCV003941165]|not provided [RCV003416481]|not specified [RCV001822726] Chr19:6590955 [GRCh38]
Chr19:6590966 [GRCh37]
Chr19:19p13.3
likely benign
NC_000019.9:g.(?_6361586)_(8212364_?)del deletion Mucolipidosis type IV [RCV003109715] Chr19:6361586..8212364 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3 copy number gain not provided [RCV001007028] Chr19:5949772..6699729 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.356C>T (p.Thr119Met) single nucleotide variant not provided [RCV004790725] Chr19:6586246 [GRCh38]
Chr19:6586257 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.290G>A (p.Arg97His) single nucleotide variant Inborn genetic diseases [RCV002698276] Chr19:6586312 [GRCh38]
Chr19:6586323 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.388G>A (p.Val130Met) single nucleotide variant Inborn genetic diseases [RCV002668347]|not provided [RCV004790403] Chr19:6586214 [GRCh38]
Chr19:6586225 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.574C>A (p.Arg192Ser) single nucleotide variant Inborn genetic diseases [RCV003373233] Chr19:6586028 [GRCh38]
Chr19:6586039 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
NM_001252.5(CD70):c.423C>T (p.Ser141=) single nucleotide variant CD70-related disorder [RCV003939051]|not provided [RCV003457278] Chr19:6586179 [GRCh38]
Chr19:6586190 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001252.5(CD70):c.353C>T (p.Thr118Met) single nucleotide variant Inborn genetic diseases [RCV002992476] Chr19:6586249 [GRCh38]
Chr19:6586260 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.511C>T (p.Leu171Phe) single nucleotide variant Inborn genetic diseases [RCV002787290] Chr19:6586091 [GRCh38]
Chr19:6586102 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.215G>A (p.Arg72Lys) single nucleotide variant Inborn genetic diseases [RCV003256193] Chr19:6586387 [GRCh38]
Chr19:6586398 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.103G>A (p.Val35Met) single nucleotide variant Inborn genetic diseases [RCV003188932] Chr19:6590900 [GRCh38]
Chr19:6590911 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.449G>T (p.Gly150Val) single nucleotide variant Inborn genetic diseases [RCV003379598] Chr19:6586153 [GRCh38]
Chr19:6586164 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.497C>T (p.Thr166Ile) single nucleotide variant Inborn genetic diseases [RCV003384471] Chr19:6586105 [GRCh38]
Chr19:6586116 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.-133G>T single nucleotide variant not specified [RCV003397165] Chr19:6591135 [GRCh38]
Chr19:6591146 [GRCh37]
Chr19:19p13.3
benign
NM_001330332.2(CD70):c.608A>G (p.Asn203Ser) single nucleotide variant CD70-related disorder [RCV003941626] Chr19:6583319 [GRCh38]
Chr19:6583330 [GRCh37]
Chr19:19p13.3
likely benign
NM_001330332.2(CD70):c.453T>G (p.Leu151=) single nucleotide variant CD70-related disorder [RCV003941713] Chr19:6583474 [GRCh38]
Chr19:6583485 [GRCh37]
Chr19:19p13.3
likely benign
NM_001252.5(CD70):c.196+7C>G single nucleotide variant CD70-related disorder [RCV003934156] Chr19:6590096 [GRCh38]
Chr19:6590107 [GRCh37]
Chr19:19p13.3
likely benign
NM_001252.5(CD70):c.413G>A (p.Arg138His) single nucleotide variant Inborn genetic diseases [RCV004606590] Chr19:6586189 [GRCh38]
Chr19:6586200 [GRCh37]
Chr19:19p13.3
likely benign
NM_001252.5(CD70):c.320A>C (p.His107Pro) single nucleotide variant Inborn genetic diseases [RCV004967724] Chr19:6586282 [GRCh38]
Chr19:6586293 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.156A>G (p.Ser52=) single nucleotide variant not specified [RCV005239960] Chr19:6590847 [GRCh38]
Chr19:6590858 [GRCh37]
Chr19:19p13.3
likely benign
NM_001252.5(CD70):c.345C>T (p.Cys115=) single nucleotide variant not specified [RCV003397045] Chr19:6586257 [GRCh38]
Chr19:6586268 [GRCh37]
Chr19:19p13.3
benign
NM_001252.5(CD70):c.162+63T>C single nucleotide variant not specified [RCV003490377] Chr19:6590778 [GRCh38]
Chr19:6590789 [GRCh37]
Chr19:19p13.3
benign
NM_001252.5(CD70):c.477G>A (p.Thr159=) single nucleotide variant CD70-related disorder [RCV003949770] Chr19:6586125 [GRCh38]
Chr19:6586136 [GRCh37]
Chr19:19p13.3
likely benign
NM_001252.5(CD70):c.73C>A (p.Pro25Thr) single nucleotide variant Inborn genetic diseases [RCV004435533] Chr19:6590930 [GRCh38]
Chr19:6590941 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.26C>T (p.Ser9Leu) single nucleotide variant Inborn genetic diseases [RCV004435530] Chr19:6590977 [GRCh38]
Chr19:6590988 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.352A>G (p.Thr118Ala) single nucleotide variant Inborn genetic diseases [RCV004435532] Chr19:6586250 [GRCh38]
Chr19:6586261 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001252.5(CD70):c.260A>G (p.His87Arg) single nucleotide variant Inborn genetic diseases [RCV004435529] Chr19:6586342 [GRCh38]
Chr19:6586353 [GRCh37]
Chr19:19p13.3
likely benign
NC_000019.9:g.(?_5691310)_(8008536_?)dup duplication not provided [RCV004579685] Chr19:5691310..8008536 [GRCh37]
Chr19:19p13.3-13.2
uncertain significance
NM_001252.5(CD70):c.248G>A (p.Arg83His) single nucleotide variant not provided [RCV004790726] Chr19:6586354 [GRCh38]
Chr19:6586365 [GRCh37]
Chr19:19p13.3
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:511
Count of miRNA genes:379
Interacting mature miRNAs:403
Transcripts:ENST00000245903, ENST00000423145, ENST00000597430
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
597255567GWAS1351641_Hheel bone mineral density, urate measurement QTL GWAS1351641 (human)2e-08heel bone mineral density, urate measurementblood uric acid level (CMO:0000501)1965908626590863Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
597282129GWAS1378203_HCD70 antigen measurement QTL GWAS1378203 (human)4e-12CD70 antigen measurement1965883936588394Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human

Markers in Region
TNFSF7_1930.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,585,655 - 6,586,303UniSTSGRCh37
Build 36196,536,655 - 6,537,303RGDNCBI36
Celera196,525,490 - 6,526,138RGD
HuRef196,346,392 - 6,347,040UniSTS
STS-L08096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,586,058 - 6,586,207UniSTSGRCh37
Build 36196,537,058 - 6,537,207RGDNCBI36
Celera196,525,893 - 6,526,042RGD
Cytogenetic Map19p13UniSTS
HuRef196,346,795 - 6,346,944UniSTS
GeneMap99-GB4 RH Map1938.82UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1178 2241 2279 1710 3771 1435 2121 3 529 1930 375 2190 6048 5688 46 2634 742 1481 1516 165

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054322748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF064709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L08096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN874328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000245903   ⟹   ENSP00000245903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,585,839 - 6,591,150 (-)Ensembl
Ensembl Acc Id: ENST00000423145   ⟹   ENSP00000395294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,583,183 - 6,591,139 (-)Ensembl
Ensembl Acc Id: ENST00000597430   ⟹   ENSP00000470805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,590,103 - 6,604,103 (-)Ensembl
RefSeq Acc Id: NM_001252   ⟹   NP_001243
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,585,839 - 6,591,150 (-)NCBI
GRCh37196,582,969 - 6,591,163 (-)NCBI
Build 36196,536,850 - 6,542,163 (-)NCBI Archive
HuRef196,346,587 - 6,351,902 (-)ENTREZGENE
CHM1_1196,585,772 - 6,591,088 (-)NCBI
T2T-CHM13v2.0196,575,493 - 6,580,807 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330332   ⟹   NP_001317261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,581,648 - 6,591,150 (-)NCBI
T2T-CHM13v2.0196,571,316 - 6,580,807 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054322747   ⟹   XP_054178722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0196,575,493 - 6,593,751 (-)NCBI
RefSeq Acc Id: XM_054322748   ⟹   XP_054178723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0196,575,493 - 6,584,456 (-)NCBI
RefSeq Acc Id: NP_001243   ⟸   NM_001252
- Peptide Label: isoform 1
- UniProtKB: Q53XX4 (UniProtKB/Swiss-Prot),   B4DPR8 (UniProtKB/Swiss-Prot),   Q96J57 (UniProtKB/Swiss-Prot),   P32970 (UniProtKB/Swiss-Prot),   A0A0U5JA32 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317261   ⟸   NM_001330332
- Peptide Label: isoform 2
- UniProtKB: P32970 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000395294   ⟸   ENST00000423145
Ensembl Acc Id: ENSP00000470805   ⟸   ENST00000597430
Ensembl Acc Id: ENSP00000245903   ⟸   ENST00000245903
RefSeq Acc Id: XP_054178722   ⟸   XM_054322747
- Peptide Label: isoform X1
- UniProtKB: Q96J57 (UniProtKB/Swiss-Prot),   Q53XX4 (UniProtKB/Swiss-Prot),   P32970 (UniProtKB/Swiss-Prot),   B4DPR8 (UniProtKB/Swiss-Prot),   A0A0U5JA32 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054178723   ⟸   XM_054322748
- Peptide Label: isoform X1
- UniProtKB: Q96J57 (UniProtKB/Swiss-Prot),   Q53XX4 (UniProtKB/Swiss-Prot),   P32970 (UniProtKB/Swiss-Prot),   B4DPR8 (UniProtKB/Swiss-Prot),   A0A0U5JA32 (UniProtKB/TrEMBL)
Protein Domains
THD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P32970-F1-model_v2 AlphaFold P32970 1-193 view protein structure

Promoters
RGD ID:6814634
Promoter ID:HG_XEF:3833
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_001044531,   NM_001106878,   NM_011617
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,536,954 - 6,537,454 (-)MPROMDB
RGD ID:6795267
Promoter ID:HG_KWN:28665
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_001252
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,541,861 - 6,542,361 (-)MPROMDB
RGD ID:7238233
Promoter ID:EPDNEW_H24862
Type:initiation region
Name:CD70_1
Description:CD70 molecule
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,591,113 - 6,591,173EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11937 AgrOrtholog
COSMIC CD70 COSMIC
Ensembl Genes ENSG00000125726 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000245903 ENTREZGENE
  ENST00000245903.4 UniProtKB/Swiss-Prot
  ENST00000423145 ENTREZGENE
  ENST00000423145.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot
GTEx ENSG00000125726 GTEx
HGNC ID HGNC:11937 ENTREZGENE
Human Proteome Map CD70 Human Proteome Map
InterPro CD70 UniProtKB/Swiss-Prot
  TNF_CS UniProtKB/Swiss-Prot
  TNF_dom UniProtKB/Swiss-Prot
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot
KEGG Report hsa:970 UniProtKB/Swiss-Prot
NCBI Gene 970 ENTREZGENE
OMIM 602840 OMIM
PANTHER CD70 ANTIGEN UniProtKB/Swiss-Prot
  PTHR15152 UniProtKB/Swiss-Prot
Pfam TNF UniProtKB/Swiss-Prot
PharmGKB PA36627 PharmGKB
PROSITE TNF_1 UniProtKB/Swiss-Prot
  TNF_2 UniProtKB/Swiss-Prot
SMART TNF UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot
UniProt A0A0U5JA32 ENTREZGENE, UniProtKB/TrEMBL
  B4DPR8 ENTREZGENE
  CD70_HUMAN UniProtKB/Swiss-Prot
  M0QZW2_HUMAN UniProtKB/TrEMBL
  P32970 ENTREZGENE
  Q53XX4 ENTREZGENE
  Q96J57 ENTREZGENE
UniProt Secondary B4DPR8 UniProtKB/Swiss-Prot
  Q53XX4 UniProtKB/Swiss-Prot
  Q96J57 UniProtKB/Swiss-Prot