TFRC (transferrin receptor) - Rat Genome Database

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Gene: TFRC (transferrin receptor) Homo sapiens
Analyze
Symbol: TFRC
Name: transferrin receptor
RGD ID: 733275
HGNC Page HGNC
Description: Exhibits several functions, including double-stranded RNA binding activity; protein homodimerization activity; and transferrin receptor activity. Involved in several processes, including negative regulation of mitochondrial fusion; positive regulation of NF-kappaB transcription factor activity; and positive regulation of lymphocyte activation. Localizes to several cellular components, including HFE-transferrin receptor complex; basolateral plasma membrane; and endosome. Implicated in breast carcinoma; immunodeficiency 46; multiple myeloma; and ovarian cancer. Biomarker of breast cancer; carcinoma (multiple); iron deficiency anemia; and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD71; IMD46; p90; T9; TFR; TFR1; TR; transferrin receptor (p90, CD71); transferrin receptor protein 1; TRFR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3196,027,183 - 196,082,096 (-)EnsemblGRCh38hg38GRCh38
GRCh383196,018,694 - 196,082,123 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373195,776,155 - 195,808,961 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363197,260,744 - 197,293,338 (-)NCBINCBI36hg18NCBI36
Build 343197,264,659 - 197,297,251NCBI
Celera3194,360,605 - 194,393,477 (-)NCBI
Cytogenetic Map3q29NCBI
HuRef3193,076,917 - 193,109,375 (-)NCBIHuRef
CHM1_13195,747,516 - 195,780,405 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-mevalonic acid  (EXP)
(S)-nicotine  (EXP,ISO)
1,10-phenanthroline  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (ISO)
2-methoxyethanol  (ISO)
2-methylcholine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
aconitine  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
Actein  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (ISO)
agmatine  (ISO)
alachlor  (ISO)
alcohol  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP,ISO)
alpha-pinene  (EXP)
aluminium atom  (ISO)
aluminium hydroxide  (EXP)
aluminium(0)  (ISO)
amitrole  (EXP)
ammonium chloride  (ISO)
anthracene-1,8,9-triol  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
asbestos  (EXP)
atorvastatin calcium  (EXP,ISO)
atrazine  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bucladesine  (EXP)
busulfan  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
butyric acid  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
caffeine  (ISO)
carbon nanotube  (ISO)
catechol  (EXP)
cefaloridine  (ISO)
chloropicrin  (EXP)
cholic acid  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt atom  (ISO)
cobalt dichloride  (EXP,ISO)
cobalt(2+) sulfate  (EXP)
cocaine  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumarin  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
curcumin  (EXP,ISO)
cyclosporin A  (EXP)
cyproterone acetate  (EXP)
D-penicillamine  (ISO)
desferrioxamine B  (EXP,ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
diiodine  (EXP)
dioxygen  (EXP)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ethanol  (EXP,ISO)
ferric ammonium citrate  (EXP,ISO)
ferric oxide  (ISO)
ferric pyrophosphate  (EXP)
fipronil  (ISO)
flutamide  (ISO)
fluvastatin  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gallium atom  (EXP,ISO)
genistein  (EXP,ISO)
ginkgetin  (EXP,ISO)
ginkgolide B  (EXP,ISO)
glafenine  (ISO)
glycerol  (EXP)
hemin  (EXP,ISO)
heparin  (EXP,ISO)
heroin  (EXP)
hexachlorobenzene  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
hypochlorous acid  (ISO)
indometacin  (EXP)
ionomycin  (ISO)
irinotecan  (EXP)
iron atom  (EXP,ISO)
iron(0)  (EXP,ISO)
iron(2+) sulfate (anhydrous)  (EXP,ISO)
iron(III) citrate  (EXP)
isoprenaline  (EXP,ISO)
isotretinoin  (EXP)
ivermectin  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (ISO)
LY294002  (EXP)
malathion  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
menadione  (EXP)
mercaptopurine  (ISO)
mercury dichloride  (ISO)
metformin  (ISO)
methapyrilene  (EXP,ISO)
Mezerein  (ISO)
mithramycin  (ISO)
monocrotaline  (ISO)
monosodium L-glutamate  (ISO)
motexafin gadolinium  (EXP)
N-[3-(aminomethyl)benzyl]acetamidine  (EXP)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
N1'-[2-[[5-[(dimethylamino)methyl]-2-furanyl]methylthio]ethyl]-N1-methyl-2-nitroethene-1,1-diamine  (ISO)
nefazodone  (ISO)
nickel dichloride  (EXP,ISO)
nickel sulfate  (ISO)
nicotine  (EXP,ISO)
nicotinic acid  (ISO)
nimesulide  (ISO)
nitric oxide  (EXP,ISO)
nitroprusside  (EXP)
okadaic acid  (ISO)
oleic acid  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
p-toluidine  (ISO)
palytoxin  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenol  (EXP)
phenylarsine oxide  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
propane-1,2-diol  (EXP)
propiconazole  (ISO)
prostaglandin E2  (EXP)
protein kinase inhibitor  (EXP)
purine-6-thiol  (ISO)
quartz  (ISO)
quercetin  (EXP,ISO)
raloxifene  (EXP)
ranitidine  (ISO)
Rebamipide  (ISO)
resveratrol  (EXP)
Ro 41-5253  (ISO)
rofecoxib  (EXP)
rotenone  (ISO)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
saccharin  (ISO)
sarin  (EXP)
SB 431542  (EXP)
sepiapterin  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
tin(II) chloride (anhydrous)  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
torcetrapib  (EXP)
tributylstannane  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
Yessotoxin  (EXP)
zinc acetate  (EXP)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acute-phase response  (ISO)
aging  (ISO)
cellular iron ion homeostasis  (IBA,IEA,ISO,NAS)
cellular response to leukemia inhibitory factor  (IEA,ISO)
intracellular signal transduction  (IMP)
iron ion transport  (IBA,IDA)
membrane organization  (TAS)
negative regulation of apoptotic process  (IMP)
negative regulation of mitochondrial fusion  (IMP)
osteoclast differentiation  (IEA)
positive regulation of B cell proliferation  (IDA)
positive regulation of bone resorption  (IEA)
positive regulation of gene expression  (IMP)
positive regulation of I-kappaB kinase/NF-kappaB signaling  (IMP)
positive regulation of isotype switching  (IDA)
positive regulation of NF-kappaB transcription factor activity  (IMP)
positive regulation of peptidyl-serine phosphorylation  (IMP)
positive regulation of protein localization to nucleus  (IMP)
positive regulation of protein phosphorylation  (IMP)
positive regulation of protein-containing complex assembly  (IMP)
positive regulation of T cell proliferation  (IDA)
proteolysis  (IEA)
receptor internalization  (IDA,IEA)
regulation of cell growth  (IMP)
regulation of cell population proliferation  (IMP)
response to copper ion  (ISO)
response to hypoxia  (ISO)
response to inorganic substance  (ISO)
response to iron ion  (ISO)
response to manganese ion  (ISO)
response to nutrient  (ISO)
response to organic substance  (ISO)
response to retinoic acid  (ISO)
transferrin transport  (IC,IDA,IEA,TAS)
transport across blood-brain barrier  (NAS)
viral entry into host cell  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Aleo Lujan E, etal., An Pediatr (Barc). 2004 May;60(5):428-35.
2. Barisani D, etal., Physiol Genomics. 2004 May 19;17(3):316-25.
3. Cortes-Barberena E, etal., Clin Exp Immunol. 2008 Mar 28;.
4. Daniels TR, etal., J Immunother. 2011 Jul-Aug;34(6):500-8. doi: 10.1097/CJI.0b013e318222ffc8.
5. Daniels-Wells TR, etal., J Immunother. 2015 Oct;38(8):307-10. doi: 10.1097/CJI.0000000000000092.
6. Farley J, etal., Anal Quant Cytol Histol. 1998 Aug;20(4):238-49.
7. FitzGerald DJ, etal., Cancer Res. 1987 Mar 1;47(5):1407-10.
8. GOA_HUMAN data from the GO Consortium
9. Hofer T, etal., Exp Gerontol. 2008 Feb 29;.
10. Hogemann-Savellano D, etal., Neoplasia. 2003 Nov-Dec;5(6):495-506.
11. Holmstrom P, etal., Liver Int. 2006 Oct;26(8):976-85.
12. Khomenko T, etal., Am J Physiol Gastrointest Liver Physiol. 2009 Jun;296(6):G1277-86. doi: 10.1152/ajpgi.90257.2008. Epub 2009 Apr 2.
13. Kudoh S, etal., Int J Cancer. 1994 Aug 1;58(3):369-75.
14. Kuvibidila S, etal., J Lab Clin Med. 2004 Oct;144(4):176-82.
15. Lane DJ, etal., Biochim Biophys Acta. 2015 May;1853(5):1130-44. doi: 10.1016/j.bbamcr.2015.01.021. Epub 2015 Feb 4.
16. Lelliott PM, etal., Infect Immun. 2015 Nov;83(11):4322-34. doi: 10.1128/IAI.00926-15. Epub 2015 Aug 24.
17. Li Y, etal., Biol Trace Elem Res. 2012 Dec;150(1-3):242-8. doi: 10.1007/s12011-012-9455-0. Epub 2012 May 26.
18. Liu CY, etal., Zhonghua Xue Ye Xue Za Zhi. 2007 Apr;28(4):255-8.
19. Martin FM, etal., PLoS One. 2011 Feb 4;6(2):e16894. doi: 10.1371/journal.pone.0016894.
20. Mechtersheimer G, etal., Pathol Res Pract. 1990 Aug;186(4):427-38.
21. Meli R, etal., PLoS One. 2013 Jun 21;8(6):e66570. doi: 10.1371/journal.pone.0066570. Print 2013.
22. OMIM Disease Annotation Pipeline
23. Pipeline to import KEGG annotations from KEGG into RGD
24. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
25. Rahman SA, etal., Urol Res. 1997;25(5):325-9.
26. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
27. RGD automated import pipeline for gene-chemical interactions
28. Shabtai M, etal., J Urol. 2002 Nov;168(5):2216-9.
29. Sheikh N, etal., Lab Invest. 2007 Apr 9;.
30. Sheikh N, etal., Lab Invest. 2007 Jul;87(7):713-25. Epub 2007 Apr 9.
31. Weizer-Stern O, etal., Am J Hematol. 2006 Jul;81(7):479-83.
32. Yang DC, etal., Anticancer Res. 2001 Jan-Feb;21(1B):541-9.
33. Yang DC, etal., Anticancer Res. 2001 May-Jun;21(3B):1777-87.
34. Zhu BM, etal., Blood. 2008 Sep 1;112(5):2071-80. doi: 10.1182/blood-2007-12-127480. Epub 2008 Jun 13.
Additional References at PubMed
PMID:1380674   PMID:1421756   PMID:1421757   PMID:1871153   PMID:2229063   PMID:2298808   PMID:2327986   PMID:2398066   PMID:2507316   PMID:2874839   PMID:3007223   PMID:3013873  
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PMID:7994765   PMID:8394993   PMID:8408022   PMID:8631371   PMID:8671324   PMID:9120267   PMID:9136890   PMID:9341758   PMID:9358047   PMID:9414644   PMID:9428630   PMID:9448136  
PMID:9465039   PMID:9546397   PMID:9782058   PMID:9990067   PMID:10192390   PMID:10377239   PMID:10451539   PMID:10531064   PMID:10638746   PMID:11027676   PMID:11096344   PMID:11702220  
PMID:11783942   PMID:11800564   PMID:11891802   PMID:11929045   PMID:11944994   PMID:11988743   PMID:11997026   PMID:12032198   PMID:12071581   PMID:12163483   PMID:12200453   PMID:12210842  
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PMID:16893896   PMID:17059402   PMID:17062801   PMID:17081065   PMID:17125792   PMID:17173037   PMID:17213182   PMID:17287727   PMID:17327328   PMID:17407154   PMID:17493600   PMID:17872946  
PMID:17927572   PMID:17956864   PMID:17994011   PMID:18003730   PMID:18155160   PMID:18166587   PMID:18218624   PMID:18353247   PMID:18362144   PMID:18411250   PMID:18445768   PMID:18541582  
PMID:18579154   PMID:18586377   PMID:18619525   PMID:18621559   PMID:18635001   PMID:18665828   PMID:18676680   PMID:18677382   PMID:18694648   PMID:19021568   PMID:19066835   PMID:19135902  
PMID:19170196   PMID:19223469   PMID:19238537   PMID:19258483   PMID:19290554   PMID:19308738   PMID:19394251   PMID:19625176   PMID:19692168   PMID:19693784   PMID:19711434   PMID:19728552  
PMID:19738201   PMID:19819738   PMID:19828835   PMID:19838776   PMID:19859668   PMID:19862010   PMID:19864458   PMID:19875448   PMID:19913121   PMID:19917294   PMID:19968988   PMID:20001236  
PMID:20041272   PMID:20071291   PMID:20085643   PMID:20086096   PMID:20133674   PMID:20139978   PMID:20161783   PMID:20202662   PMID:20208545   PMID:20360068   PMID:20369475   PMID:20404192  
PMID:20424473   PMID:20458337   PMID:20497464   PMID:20587610   PMID:20604729   PMID:20618438   PMID:20628086   PMID:20634958   PMID:20716799   PMID:20821024   PMID:20870579   PMID:20880565  
PMID:20980512   PMID:21036394   PMID:21081666   PMID:21149283   PMID:21165552   PMID:21182205   PMID:21187331   PMID:21266579   PMID:21297444   PMID:21323588   PMID:21384276   PMID:21415701  
PMID:21499258   PMID:21523522   PMID:21674799   PMID:21750710   PMID:21788477   PMID:21849092   PMID:21859709   PMID:21870996   PMID:21873635   PMID:21875946   PMID:21922073   PMID:22090097  
PMID:22096579   PMID:22158540   PMID:22167341   PMID:22268729   PMID:22278244   PMID:22304920   PMID:22308388   PMID:22356162   PMID:22456507   PMID:22516433   PMID:22525445   PMID:22623428  
PMID:22658674   PMID:22664934   PMID:22750506   PMID:22763969   PMID:22768652   PMID:22854040   PMID:23016877   PMID:23042282   PMID:23102618   PMID:23137377   PMID:23160040   PMID:23222517  
PMID:23357852   PMID:23384347   PMID:23384534   PMID:23390091   PMID:23443559   PMID:23464991   PMID:23606747   PMID:23749212   PMID:23754414   PMID:23798571   PMID:23861967   PMID:23874603  
PMID:23962073   PMID:24121126   PMID:24189400   PMID:24276247   PMID:24332808   PMID:24337577   PMID:24435655   PMID:24457600   PMID:24525213   PMID:24561039   PMID:24623722   PMID:24639526  
PMID:24711643   PMID:24752778   PMID:24769233   PMID:24797263   PMID:24798327   PMID:24890018   PMID:24898821   PMID:24901155   PMID:25147182   PMID:25207990   PMID:25275127   PMID:25352340  
PMID:25395366   PMID:25416956   PMID:25437307   PMID:25449331   PMID:25496916   PMID:25906120   PMID:25915522   PMID:25921289   PMID:26079381   PMID:26186194   PMID:26214738   PMID:26232328  
PMID:26339443   PMID:26392563   PMID:26394034   PMID:26441243   PMID:26496610   PMID:26511642   PMID:26549031   PMID:26559962   PMID:26590417   PMID:26638075   PMID:26642240   PMID:26657500  
PMID:26693507   PMID:26728129   PMID:26831064   PMID:26869514   PMID:27100851   PMID:27226592   PMID:27282576   PMID:27342126   PMID:27375898   PMID:27384479   PMID:27462432   PMID:27468886  
PMID:27483296   PMID:27523281   PMID:27629729   PMID:27791468   PMID:27875067   PMID:27995606   PMID:28134816   PMID:28189691   PMID:28302793   PMID:28330616   PMID:28342014   PMID:28378594  
PMID:28446125   PMID:28515276   PMID:28533407   PMID:28551638   PMID:28671021   PMID:28675297   PMID:28700943   PMID:28707012   PMID:28712289   PMID:28714470   PMID:28743755   PMID:28837569  
PMID:28980921   PMID:29117863   PMID:29128334   PMID:29180619   PMID:29286585   PMID:29295890   PMID:29302006   PMID:29388418   PMID:29395073   PMID:29467282   PMID:29488316   PMID:29507755  
PMID:29509190   PMID:29568061   PMID:29742433   PMID:29875008   PMID:29911972   PMID:29950717   PMID:29969719   PMID:30021884   PMID:30024968   PMID:30050123   PMID:30056091   PMID:30110629  
PMID:30194290   PMID:30280653   PMID:30352685   PMID:30391537   PMID:30442662   PMID:30442766   PMID:30463901   PMID:30552136   PMID:30575818   PMID:30593316   PMID:30619736   PMID:30639242  
PMID:30669930   PMID:30711629   PMID:30728365   PMID:30737378   PMID:30782157   PMID:30811632   PMID:30833792   PMID:30850661   PMID:30854239   PMID:30948266   PMID:30961617   PMID:31066028  
PMID:31067453   PMID:31073040   PMID:31091453   PMID:31131011   PMID:31216479   PMID:31235657   PMID:31313541   PMID:31361230   PMID:31381839   PMID:31396950   PMID:31434741   PMID:31439810  
PMID:31484533   PMID:31536960   PMID:31586073   PMID:31659150   PMID:31694367   PMID:31732153   PMID:31793267   PMID:31915245   PMID:31950832   PMID:31985874   PMID:31995728   PMID:32160546  
PMID:32296183   PMID:32416067   PMID:32452770   PMID:32780723   PMID:33060197   PMID:33235126   PMID:33351833  


Genomics

Comparative Map Data
TFRC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3196,027,183 - 196,082,096 (-)EnsemblGRCh38hg38GRCh38
GRCh383196,018,694 - 196,082,123 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh373195,776,155 - 195,808,961 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363197,260,744 - 197,293,338 (-)NCBINCBI36hg18NCBI36
Build 343197,264,659 - 197,297,251NCBI
Celera3194,360,605 - 194,393,477 (-)NCBI
Cytogenetic Map3q29NCBI
HuRef3193,076,917 - 193,109,375 (-)NCBIHuRef
CHM1_13195,747,516 - 195,780,405 (-)NCBICHM1_1
Tfrc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391632,427,714 - 32,451,612 (+)NCBIGRCm39mm39
GRCm39 Ensembl1632,427,738 - 32,451,612 (+)Ensembl
GRCm381632,608,896 - 32,632,794 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1632,608,920 - 32,632,794 (+)EnsemblGRCm38mm10GRCm38
MGSCv371632,608,982 - 32,632,880 (+)NCBIGRCm37mm9NCBIm37
MGSCv361632,528,768 - 32,552,537 (+)NCBImm8
Celera1633,088,313 - 33,112,331 (+)NCBICelera
Cytogenetic Map16B3NCBI
cM Map1623.06NCBI
Tfrc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21168,163,413 - 68,185,257 (-)NCBI
Rnor_6.0 Ensembl1171,397,383 - 71,419,223 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01171,397,423 - 71,419,263 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01174,479,841 - 74,502,561 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41169,976,258 - 69,998,098 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11170,034,788 - 70,049,347 (-)NCBI
Celera1167,596,761 - 67,618,555 (-)NCBICelera
Cytogenetic Map11q22NCBI
Tfrc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542012,348,821 - 12,372,691 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542012,348,392 - 12,372,714 (-)NCBIChiLan1.0ChiLan1.0
TFRC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13203,333,953 - 203,365,586 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3203,333,953 - 203,373,998 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03193,384,817 - 193,417,532 (-)NCBIMhudiblu_PPA_v0panPan3
TFRC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13329,206,024 - 29,237,221 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3329,208,609 - 29,238,242 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3329,234,803 - 29,256,627 (-)NCBI
ROS_Cfam_1.03329,440,415 - 29,471,780 (-)NCBI
UMICH_Zoey_3.13329,229,617 - 29,251,398 (-)NCBI
UNSW_CanFamBas_1.03329,284,382 - 29,306,157 (-)NCBI
UU_Cfam_GSD_1.03329,905,548 - 29,927,547 (-)NCBI
Tfrc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602125,156,856 - 125,188,523 (+)NCBI
SpeTri2.0NW_004936784696,738 - 728,385 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TFRC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13133,970,594 - 134,000,278 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113133,976,765 - 133,997,554 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213143,414,634 - 143,435,426 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TFRC
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11591,102,153 - 91,134,994 (+)NCBI
ChlSab1.1 Ensembl1591,102,817 - 91,135,584 (+)Ensembl
Vero_WHO_p1.0NW_02366604164,945,566 - 64,977,969 (+)NCBI
Tfrc
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473061,282,650 - 61,313,487 (-)NCBI

Position Markers
D3S4248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,776,262 - 195,776,398UniSTSGRCh37
Build 363197,260,659 - 197,260,795RGDNCBI36
Celera3194,360,712 - 194,360,848RGD
Cytogenetic Map3q29UniSTS
HuRef3193,077,024 - 193,077,160UniSTS
SHGC-77671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,790,035 - 195,790,161UniSTSGRCh37
Build 363197,274,432 - 197,274,558RGDNCBI36
Celera3194,374,484 - 194,374,610RGD
Cytogenetic Map3q29UniSTS
HuRef3193,090,797 - 193,090,923UniSTS
TNG Radiation Hybrid Map3108010.0UniSTS
GeneMap99-GB4 RH Map3726.38UniSTS
Whitehead-RH Map3881.3UniSTS
STS-H53118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,793,013 - 195,793,134UniSTSGRCh37
Build 363197,277,410 - 197,277,531RGDNCBI36
Celera3194,377,458 - 194,377,579RGD
Cytogenetic Map3q29UniSTS
HuRef3193,093,774 - 193,093,895UniSTS
TNG Radiation Hybrid Map3107964.0UniSTS
GeneMap99-GB4 RH Map3726.38UniSTS
NCBI RH Map31988.3UniSTS
D3S2868E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,776,181 - 195,776,306UniSTSGRCh37
Build 363197,260,578 - 197,260,703RGDNCBI36
Celera3194,360,631 - 194,360,756RGD
Cytogenetic Map3q29UniSTS
HuRef3193,076,943 - 193,077,068UniSTS
GDB:181229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,809,054 - 195,809,273UniSTSGRCh37
Build 363197,293,451 - 197,293,670RGDNCBI36
Celera3194,393,499 - 194,393,718RGD
Cytogenetic Map3q29UniSTS
HuRef3193,109,397 - 193,109,616UniSTS
RH135817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,808,848 - 195,809,071UniSTSGRCh37
Build 363197,293,245 - 197,293,468RGDNCBI36
Celera3194,393,293 - 194,393,516RGD
Cytogenetic Map3q29UniSTS
HuRef3193,109,191 - 193,109,414UniSTS
SHGC-77673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,778,376 - 195,778,555UniSTSGRCh37
Build 363197,262,773 - 197,262,952RGDNCBI36
Celera3194,362,826 - 194,363,005RGD
Cytogenetic Map3q29UniSTS
HuRef3193,079,138 - 193,079,317UniSTS
TNG Radiation Hybrid Map3107984.0UniSTS
GeneMap99-GB4 RH Map3726.38UniSTS
G22035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,781,439 - 195,781,571UniSTSGRCh37
Build 363197,265,836 - 197,265,968RGDNCBI36
Celera3194,365,889 - 194,366,021RGD
Cytogenetic Map3q29UniSTS
HuRef3193,082,201 - 193,082,333UniSTS
TFRC_3331.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,776,284 - 195,777,045UniSTSGRCh37
Build 363197,260,681 - 197,261,442RGDNCBI36
Celera3194,360,734 - 194,361,495RGD
HuRef3193,077,046 - 193,077,807UniSTS
SHGC-58250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,797,856 - 195,797,965UniSTSGRCh37
Build 363197,282,253 - 197,282,362RGDNCBI36
Celera3194,382,299 - 194,382,408RGD
Cytogenetic Map3q29UniSTS
HuRef3193,098,616 - 193,098,725UniSTS
TNG Radiation Hybrid Map3107972.0UniSTS
SHGC-77676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,776,362 - 195,776,461UniSTSGRCh37
Build 363197,260,759 - 197,260,858RGDNCBI36
Celera3194,360,812 - 194,360,911RGD
Cytogenetic Map3q29UniSTS
HuRef3193,077,124 - 193,077,223UniSTS
TNG Radiation Hybrid Map3107980.0UniSTS
GeneMap99-GB4 RH Map3726.38UniSTS
D3S4193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,778,436 - 195,778,673UniSTSGRCh37
Build 363197,262,833 - 197,263,070RGDNCBI36
Celera3194,362,886 - 194,363,123RGD
Cytogenetic Map3q29UniSTS
HuRef3193,079,198 - 193,079,435UniSTS
Stanford-G3 RH Map38631.0UniSTS
NCBI RH Map32087.5UniSTS
GeneMap99-G3 RH Map39101.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR320B2hsa-miR-320bOncomiRDBexternal_infoNANA19135902
MIR320D2hsa-miR-320dOncomiRDBexternal_infoNANA19135902
MIR200Ahsa-miR-200a-3pMirtarbaseexternal_infoNorthern blotFunctional MTI (Weak)19135902
MIR320Ahsa-miR-320aMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18523662
MIR320Ahsa-miR-320aMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19164563
MIR320Ahsa-miR-320aMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//flowFunctional MTI19135902
MIR320Ahsa-miR-320aOncomiRDBexternal_infoNANA19135902
MIR320Ehsa-miR-320eOncomiRDBexternal_infoNANA19135902
MIR22hsa-miR-22-3pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//flowFunctional MTI19135902
MIR320C2hsa-miR-320cOncomiRDBexternal_infoNANA19135902

Predicted Target Of
Summary Value
Count of predictions:5403
Count of miRNA genes:1211
Interacting mature miRNAs:1523
Transcripts:ENST00000360110, ENST00000392396, ENST00000420415, ENST00000421258, ENST00000426789, ENST00000463047, ENST00000463356, ENST00000464011, ENST00000464368, ENST00000465288, ENST00000475593, ENST00000477148, ENST00000482479, ENST00000483983, ENST00000491658, ENST00000535031, ENST00000540528
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 14 3 5
Medium 2130 2272 1476 458 1551 332 3904 1499 2906 329 1399 1531 143 1 1157 2376 6 2
Low 308 716 250 166 386 133 452 695 828 90 58 77 32 47 412
Below cutoff 3 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001313965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001313966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF994006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK724857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA460386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ496099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DT219054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X01060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000360110   ⟹   ENSP00000353224
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,049,284 - 196,082,090 (-)Ensembl
RefSeq Acc Id: ENST00000392396   ⟹   ENSP00000376197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,049,476 - 196,082,090 (-)Ensembl
RefSeq Acc Id: ENST00000420415   ⟹   ENSP00000390133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,049,284 - 196,082,094 (-)Ensembl
RefSeq Acc Id: ENST00000421258   ⟹   ENSP00000402839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,071,440 - 196,082,096 (-)Ensembl
RefSeq Acc Id: ENST00000426789   ⟹   ENSP00000414015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,027,183 - 196,055,214 (-)Ensembl
RefSeq Acc Id: ENST00000463047
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,053,492 - 196,055,561 (-)Ensembl
RefSeq Acc Id: ENST00000463356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,057,962 - 196,060,249 (-)Ensembl
RefSeq Acc Id: ENST00000464011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,074,197 - 196,082,090 (-)Ensembl
RefSeq Acc Id: ENST00000464368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,062,391 - 196,065,550 (-)Ensembl
RefSeq Acc Id: ENST00000465288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,058,283 - 196,063,424 (-)Ensembl
RefSeq Acc Id: ENST00000475593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,053,509 - 196,062,975 (-)Ensembl
RefSeq Acc Id: ENST00000477148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,058,326 - 196,063,192 (-)Ensembl
RefSeq Acc Id: ENST00000482479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,058,211 - 196,058,958 (-)Ensembl
RefSeq Acc Id: ENST00000483983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,055,111 - 196,060,604 (-)Ensembl
RefSeq Acc Id: ENST00000491658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,067,607 - 196,069,700 (-)Ensembl
RefSeq Acc Id: NM_001128148   ⟹   NP_001121620
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,049,284 - 196,082,090 (-)NCBI
GRCh373195,776,155 - 195,809,032 (-)ENTREZGENE
HuRef3193,076,917 - 193,109,375 (-)ENTREZGENE
CHM1_13195,747,516 - 195,780,405 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001313965   ⟹   NP_001300894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,049,284 - 196,082,090 (-)NCBI
CHM1_13195,747,516 - 195,780,405 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001313966   ⟹   NP_001300895
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,049,284 - 196,082,090 (-)NCBI
CHM1_13195,747,516 - 195,780,405 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003234   ⟹   NP_003225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,049,284 - 196,082,090 (-)NCBI
GRCh373195,776,155 - 195,809,032 (-)ENTREZGENE
Build 363197,260,744 - 197,293,338 (-)NCBI Archive
HuRef3193,076,917 - 193,109,375 (-)ENTREZGENE
CHM1_13195,747,516 - 195,780,334 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453731   ⟹   XP_024309499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,026,628 - 196,082,123 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453732   ⟹   XP_024309500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,018,694 - 196,082,123 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002959575
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,018,694 - 196,082,123 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002959576
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,018,694 - 196,082,123 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002959577
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,018,694 - 196,082,123 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002959578
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,018,694 - 196,082,123 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001121620   ⟸   NM_001128148
- Peptide Label: isoform 1
- UniProtKB: P02786 (UniProtKB/Swiss-Prot),   Q7Z3E0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003225   ⟸   NM_003234
- Peptide Label: isoform 1
- UniProtKB: P02786 (UniProtKB/Swiss-Prot),   A8K6Q8 (UniProtKB/TrEMBL),   Q7Z3E0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300895   ⟸   NM_001313966
- Peptide Label: isoform 3
- UniProtKB: P02786 (UniProtKB/Swiss-Prot),   B7Z2I6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300894   ⟸   NM_001313965
- Peptide Label: isoform 2
- UniProtKB: P02786 (UniProtKB/Swiss-Prot),   G3V0E5 (UniProtKB/TrEMBL),   Q7Z3E0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024309500   ⟸   XM_024453732
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024309499   ⟸   XM_024453731
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000414015   ⟸   ENST00000426789
RefSeq Acc Id: ENSP00000353224   ⟸   ENST00000360110
RefSeq Acc Id: ENSP00000376197   ⟸   ENST00000392396
RefSeq Acc Id: ENSP00000390133   ⟸   ENST00000420415
RefSeq Acc Id: ENSP00000402839   ⟸   ENST00000421258
Protein Domains
PA   Peptidase_M28   TFR_dimer

Promoters
RGD ID:6866676
Promoter ID:EPDNEW_H6502
Type:initiation region
Name:TFRC_1
Description:transferrin receptor
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
GRCh383196,082,090 - 196,082,150EPDNEW
RGD ID:6801773
Promoter ID:HG_KWN:47445
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000341359,   OTTHUMT00000341360
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,266,341 - 197,267,487 (-)MPROMDB
RGD ID:6801770
Promoter ID:HG_KWN:47446
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000341358
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,270,424 - 197,270,924 (-)MPROMDB
RGD ID:6801772
Promoter ID:HG_KWN:47447
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000341357,   OTTHUMT00000341361
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,271,441 - 197,272,427 (-)MPROMDB
RGD ID:6801769
Promoter ID:HG_KWN:47448
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000341354,   OTTHUMT00000341355,   OTTHUMT00000341356
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,274,136 - 197,275,677 (-)MPROMDB
RGD ID:6801767
Promoter ID:HG_KWN:47449
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000341353
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,276,559 - 197,277,059 (-)MPROMDB
RGD ID:6801768
Promoter ID:HG_KWN:47450
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000341352
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,280,809 - 197,281,309 (-)MPROMDB
RGD ID:6801766
Promoter ID:HG_KWN:47451
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003234,   OTTHUMT00000341346,   OTTHUMT00000341350,   OTTHUMT00000341351,   UC010HZY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,293,084 - 197,293,584 (-)MPROMDB
RGD ID:6850208
Promoter ID:EP15041
Type:single initiation site
Name:HS_TFRC
Description:Transferrin receptor, TFRC gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Primer extension
Regulation:ubiquitous; (induced by or strongly expressed in) proliferating cells
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,293,356 - 197,293,416EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 3q29(chr3:195457650-196263123) copy number loss Autistic disorder of childhood onset [RCV000626534] Chr3:195457650..196263123 [GRCh37]
Chr3:3q29
uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:3q29
pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000050878] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29
pathogenic
GRCh38/hg38 3q29(chr3:196013486-197503306)x3 copy number gain See cases [RCV000051013] Chr3:196013486..197503306 [GRCh38]
Chr3:195740357..197230177 [GRCh37]
Chr3:197224754..198714574 [NCBI36]
Chr3:3q29
pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196077857-197165715)x1 copy number loss See cases [RCV000051202] Chr3:196077857..197165715 [GRCh38]
Chr3:195804728..196892586 [GRCh37]
Chr3:197289125..198376983 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29
pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29
pathogenic
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 copy number gain See cases [RCV000051740] Chr3:190667663..198110178 [GRCh38]
Chr3:190385452..197837049 [GRCh37]
Chr3:191868146..199321446 [NCBI36]
Chr3:3q28-29
pathogenic
GRCh38/hg38 3q29(chr3:193917490-198110319)x3 copy number gain See cases [RCV000051741] Chr3:193917490..198110319 [GRCh38]
Chr3:193635279..197837190 [GRCh37]
Chr3:195117973..199321587 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q29(chr3:194424496-198168758)x3 copy number gain See cases [RCV000051742] Chr3:194424496..198168758 [GRCh38]
Chr3:194145225..197895629 [GRCh37]
Chr3:195626514..199380026 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q29(chr3:196035777-197658540)x1 copy number loss See cases [RCV000053114] Chr3:196035777..197658540 [GRCh38]
Chr3:195762648..197385411 [GRCh37]
Chr3:197247045..198869808 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q29(chr3:196035777-197625573)x1 copy number loss See cases [RCV000053115] Chr3:196035777..197625573 [GRCh38]
Chr3:195762648..197352444 [GRCh37]
Chr3:197247045..198836841 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q29(chr3:196077857-197693741)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|See cases [RCV000053125] Chr3:196077857..197693741 [GRCh38]
Chr3:195804728..197420612 [GRCh37]
Chr3:197289125..198905009 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q29(chr3:195896948-198110178)x3 copy number gain See cases [RCV000053541] Chr3:195896948..198110178 [GRCh38]
Chr3:195623819..197837049 [GRCh37]
Chr3:197108216..199321446 [NCBI36]
Chr3:3q29
uncertain significance
GRCh38/hg38 3q29(chr3:195917073-196336765)x3 copy number gain See cases [RCV000053542] Chr3:195917073..196336765 [GRCh38]
Chr3:195643944..196063636 [GRCh37]
Chr3:197128341..197548033 [NCBI36]
Chr3:3q29
uncertain significance
GRCh38/hg38 3q29(chr3:196035777-196189197)x3 copy number gain See cases [RCV000053543] Chr3:196035777..196189197 [GRCh38]
Chr3:195762648..195916068 [GRCh37]
Chr3:197247045..197400465 [NCBI36]
Chr3:3q29
uncertain significance
GRCh38/hg38 3q29(chr3:195711798-197976152)x3 copy number gain See cases [RCV000053540] Chr3:195711798..197976152 [GRCh38]
Chr3:195438669..197703023 [GRCh37]
Chr3:196924340..199187420 [NCBI36]
Chr3:3q29
uncertain significance
GRCh38/hg38 3q29(chr3:195755702-197583580)x3 copy number gain See cases [RCV000053853] Chr3:195755702..197583580 [GRCh38]
Chr3:195482573..197310451 [GRCh37]
Chr3:196968244..198794848 [NCBI36]
Chr3:3q29
pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195965316-197625573)x3 copy number gain See cases [RCV000053854] Chr3:195965316..197625573 [GRCh38]
Chr3:195692187..197352444 [GRCh37]
Chr3:197176584..198836841 [NCBI36]
Chr3:3q29
pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195972720-197658495)x3 copy number gain See cases [RCV000053855] Chr3:195972720..197658495 [GRCh38]
Chr3:195699591..197385366 [GRCh37]
Chr3:197183988..198869763 [NCBI36]
Chr3:3q29
pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195997494-197662231)x3 copy number gain See cases [RCV000053856] Chr3:195997494..197662231 [GRCh38]
Chr3:195724365..197389102 [GRCh37]
Chr3:197208762..198873499 [NCBI36]
Chr3:3q29
pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197606438)x3 copy number gain See cases [RCV000053857] Chr3:196035777..197606438 [GRCh38]
Chr3:195762648..197333309 [GRCh37]
Chr3:197247045..198817706 [NCBI36]
Chr3:3q29
pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197662231)x3 copy number gain See cases [RCV000053858] Chr3:196035777..197662231 [GRCh38]
Chr3:195762648..197389102 [GRCh37]
Chr3:197247045..198873499 [NCBI36]
Chr3:3q29
pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195747856-197387258) copy number gain Motor delay [RCV001291947] Chr3:195747856..197387258 [GRCh37]
Chr3:3q29
pathogenic
NM_001128148.3(TFRC):c.1484A>G (p.Lys495Arg) single nucleotide variant not provided [RCV001313063] Chr3:196060232 [GRCh38]
Chr3:195787103 [GRCh37]
Chr3:3q29
uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q29(chr3:194338534-197693741)x1 copy number loss See cases [RCV000136517] Chr3:194338534..197693741 [GRCh38]
Chr3:194059263..197420612 [GRCh37]
Chr3:195540958..198905009 [NCBI36]
Chr3:3q29
pathogenic|uncertain significance
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) single nucleotide variant Combined T and B cell immunodeficiency [RCV000202386]|Immunodeficiency 46 [RCV000203305] Chr3:196075339 [GRCh38]
Chr3:195802210 [GRCh37]
Chr3:3q29
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29
pathogenic
GRCh38/hg38 3q29(chr3:195711798-198110178)x3 copy number gain See cases [RCV000137110] Chr3:195711798..198110178 [GRCh38]
Chr3:195438669..197837049 [GRCh37]
Chr3:196924340..199321446 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q29(chr3:195974291-197597912)x1 copy number loss See cases [RCV000137696] Chr3:195974291..197597912 [GRCh38]
Chr3:195701162..197324783 [GRCh37]
Chr3:197185559..198809180 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic|likely benign
GRCh38/hg38 3q29(chr3:192752937-198118383)x3 copy number gain See cases [RCV000137827] Chr3:192752937..198118383 [GRCh38]
Chr3:192470726..197845254 [GRCh37]
Chr3:193953420..199329651 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29
pathogenic
GRCh38/hg38 3q29(chr3:195955711-197597912)x1 copy number loss See cases [RCV000138878] Chr3:195955711..197597912 [GRCh38]
Chr3:195682582..197324783 [GRCh37]
Chr3:197166979..198809180 [NCBI36]
Chr3:3q29
pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:194296197-198110198)x3 copy number gain See cases [RCV000138492] Chr3:194296197..198110198 [GRCh38]
Chr3:194013986..197837069 [GRCh37]
Chr3:195496680..199321466 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q29(chr3:196013531-197590232)x1 copy number loss See cases [RCV000138573] Chr3:196013531..197590232 [GRCh38]
Chr3:195740402..197317103 [GRCh37]
Chr3:197224799..198801500 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q29(chr3:196013486-197612399)x1 copy number loss See cases [RCV000141008] Chr3:196013486..197612399 [GRCh38]
Chr3:195740357..197339270 [GRCh37]
Chr3:197224754..198823667 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q29(chr3:195998419-197629463)x3 copy number gain See cases [RCV000141750] Chr3:195998419..197629463 [GRCh38]
Chr3:195725290..197356334 [GRCh37]
Chr3:197209687..198840731 [NCBI36]
Chr3:3q29
conflicting data from submitters
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29
pathogenic
GRCh38/hg38 3q29(chr3:195976744-197629463)x1 copy number loss See cases [RCV000142155] Chr3:195976744..197629463 [GRCh38]
Chr3:195703615..197356334 [GRCh37]
Chr3:197188012..198840731 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q29(chr3:196013486-197597912)x1 copy number loss See cases [RCV000143053] Chr3:196013486..197597912 [GRCh38]
Chr3:195740357..197324783 [GRCh37]
Chr3:197224754..198809180 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29
pathogenic
GRCh38/hg38 3q29(chr3:195963356-197629463)x3 copy number gain See cases [RCV000143489] Chr3:195963356..197629463 [GRCh38]
Chr3:195690227..197356334 [GRCh37]
Chr3:197174624..198840731 [NCBI36]
Chr3:3q29
uncertain significance
GRCh38/hg38 3q29(chr3:193704605-198125115)x3 copy number gain See cases [RCV000143501] Chr3:193704605..198125115 [GRCh38]
Chr3:193422394..197851986 [GRCh37]
Chr3:194905088..199336383 [NCBI36]
Chr3:3q29
pathogenic
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000148130] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195690241-197299811)x1 copy number loss See cases [RCV000240193] Chr3:195690241..197299811 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195756054-197344665)x1 copy number loss 3q29 microdeletion syndrome [RCV000258006] Chr3:195756054..197344665 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195780280-197299752)x1 copy number loss See cases [RCV000449089] Chr3:195780280..197299752 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195739427-197356334)x3 copy number gain See cases [RCV000449371] Chr3:195739427..197356334 [GRCh37]
Chr3:3q29
uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29
pathogenic
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000446216] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q29(chr3:195780280-196264407)x3 copy number gain See cases [RCV000445896] Chr3:195780280..196264407 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000449002] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195456034-197851986)x3 copy number gain See cases [RCV000448647] Chr3:195456034..197851986 [GRCh37]
Chr3:3q29
pathogenic
NC_000003.12:g.(?_196011149)_(197606127_?)del deletion Schizophrenia [RCV000416880] Chr3:196011149..197606127 [GRCh38]
Chr3:195738020..197332998 [GRCh37]
Chr3:197222417..198817395 [NCBI36]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x1 copy number loss See cases [RCV000447960] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195677309-197356334)x3 copy number gain See cases [RCV000512079] Chr3:195677309..197356334 [GRCh37]
Chr3:3q29
uncertain significance
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000511943] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000510774] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q29(chr3:195456034-197356334)x3 copy number gain See cases [RCV000512582] Chr3:195456034..197356334 [GRCh37]
Chr3:3q29
uncertain significance
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29
pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29
pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29
pathogenic
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3 copy number gain not provided [RCV000682346] Chr3:191593619..197851986 [GRCh37]
Chr3:3q28-29
pathogenic
GRCh37/hg19 3q29(chr3:195703615-197348575)x1 copy number loss not provided [RCV000682353] Chr3:195703615..197348575 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195703615-197356334)x3 copy number gain not provided [RCV000682354] Chr3:195703615..197356334 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195725290-197015654)x1 copy number loss not provided [RCV000682355] Chr3:195725290..197015654 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195725290-197339848)x3 copy number gain not provided [RCV000682356] Chr3:195725290..197339848 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x3 copy number gain not provided [RCV000682357] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29
pathogenic
NM_001128148.3(TFRC):c.1198+1G>T single nucleotide variant Immunodeficiency 46 [RCV000714864] Chr3:196065442 [GRCh38]
Chr3:195792313 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754277] Chr3:195939900..197632041 [GRCh38]
Chr3:3q29
likely pathogenic
NC_000003.12:g.(?_195990063)_(197617301_?)del deletion Schizophrenia [RCV000754278] Chr3:195990063..197617301 [GRCh38]
Chr3:3q29
pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29
pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29
pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29
pathogenic
GRCh37/hg19 3q29(chr3:195557461-195778594)x3 copy number gain not provided [RCV000743102] Chr3:195557461..195778594 [GRCh37]
Chr3:3q29
benign
GRCh37/hg19 3q29(chr3:195677895-197346971)x3 copy number gain not provided [RCV000743106] Chr3:195677895..197346971 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195725402-197386693)x1 copy number loss not provided [RCV000743108] Chr3:195725402..197386693 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195738406-197346566)x3 copy number gain not provided [RCV000743109] Chr3:195738406..197346566 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195778594-196278366)x3 copy number gain not provided [RCV000743113] Chr3:195778594..196278366 [GRCh37]
Chr3:3q29
benign
GRCh37/hg19 3q29(chr3:195652973-197346971)x1 copy number loss See cases [RCV001007436] Chr3:195652973..197346971 [GRCh37]
Chr3:3q29
pathogenic
NM_001128148.3(TFRC):c.1503G>A (p.Leu501=) single nucleotide variant not provided [RCV000972404] Chr3:196060213 [GRCh38]
Chr3:195787084 [GRCh37]
Chr3:3q29
benign
NM_001128148.3(TFRC):c.1219G>A (p.Ala407Thr) single nucleotide variant not provided [RCV000879564] Chr3:196064408 [GRCh38]
Chr3:195791279 [GRCh37]
Chr3:3q29
likely benign
NM_001128148.3(TFRC):c.1548G>A (p.Pro516=) single nucleotide variant not provided [RCV000924614] Chr3:196058621 [GRCh38]
Chr3:195785492 [GRCh37]
Chr3:3q29
benign
NM_001128148.3(TFRC):c.792T>C (p.Phe264=) single nucleotide variant not provided [RCV000926475] Chr3:196069464 [GRCh38]
Chr3:195796335 [GRCh37]
Chr3:3q29
likely benign
NM_001128148.3(TFRC):c.1726C>T (p.Leu576=) single nucleotide variant not provided [RCV000923498] Chr3:196055253 [GRCh38]
Chr3:195782124 [GRCh37]
Chr3:3q29
likely benign
NM_001128148.3(TFRC):c.1869G>A (p.Arg623=) single nucleotide variant not provided [RCV000916657] Chr3:196055110 [GRCh38]
Chr3:195781981 [GRCh37]
Chr3:3q29
likely benign
NM_001128148.3(TFRC):c.1485G>A (p.Lys495=) single nucleotide variant not provided [RCV000966900] Chr3:196060231 [GRCh38]
Chr3:195787102 [GRCh37]
Chr3:3q29
benign
NM_001128148.3(TFRC):c.1055A>G (p.Asp352Gly) single nucleotide variant not provided [RCV000897644] Chr3:196065586 [GRCh38]
Chr3:195792457 [GRCh37]
Chr3:3q29
likely benign
NM_001128148.3(TFRC):c.231C>T (p.Phe77=) single nucleotide variant not provided [RCV000909804] Chr3:196075166 [GRCh38]
Chr3:195802037 [GRCh37]
Chr3:3q29
likely benign
NM_001128148.3(TFRC):c.1041-4C>G single nucleotide variant not provided [RCV000978356] Chr3:196065604 [GRCh38]
Chr3:195792475 [GRCh37]
Chr3:3q29
likely benign
GRCh37/hg19 3q29(chr3:195701149-197348561)x3 copy number gain not provided [RCV000846762] Chr3:195701149..197348561 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29
pathogenic
GRCh37/hg19 3q29(chr3:195700698-197386180)x3 copy number gain not provided [RCV000846898] Chr3:195700698..197386180 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195573221-196124278)x3 copy number gain not provided [RCV000847985] Chr3:195573221..196124278 [GRCh37]
Chr3:3q29
uncertain significance
GRCh37/hg19 3q29(chr3:195796048-196145269)x3 copy number gain not provided [RCV001005501] Chr3:195796048..196145269 [GRCh37]
Chr3:3q29
uncertain significance
GRCh37/hg19 3q29(chr3:195279196-196022437)x3 copy number gain not provided [RCV000846857] Chr3:195279196..196022437 [GRCh37]
Chr3:3q29
uncertain significance
NM_001128148.3(TFRC):c.1461G>A (p.Ala487=) single nucleotide variant not provided [RCV000889100] Chr3:196062589 [GRCh38]
Chr3:195789460 [GRCh37]
Chr3:3q29
likely benign
NM_001128148.3(TFRC):c.1198+10G>C single nucleotide variant not provided [RCV000909879] Chr3:196065433 [GRCh38]
Chr3:195792304 [GRCh37]
Chr3:3q29
likely benign
NM_001128148.3(TFRC):c.1258G>A (p.Gly420Ser) single nucleotide variant not provided [RCV000880092] Chr3:196064369 [GRCh38]
Chr3:195791240 [GRCh37]
Chr3:3q29
benign
NM_001128148.3(TFRC):c.810T>C (p.Asn270=) single nucleotide variant not provided [RCV000880093] Chr3:196068122 [GRCh38]
Chr3:195794993 [GRCh37]
Chr3:3q29
benign
NM_001128148.3(TFRC):c.1674C>T (p.Cys558=) single nucleotide variant not provided [RCV000908160] Chr3:196058287 [GRCh38]
Chr3:195785158 [GRCh37]
Chr3:3q29
benign
NM_001128148.3(TFRC):c.1038T>C (p.Phe346=) single nucleotide variant not provided [RCV000907657] Chr3:196067520 [GRCh38]
Chr3:195794391 [GRCh37]
Chr3:3q29
likely benign
NM_001128148.3(TFRC):c.312C>T (p.Thr104=) single nucleotide variant not provided [RCV000890528] Chr3:196074052 [GRCh38]
Chr3:195800923 [GRCh37]
Chr3:3q29
benign
GRCh37/hg19 3q29(chr3:195068028-197851986)x3 copy number gain not provided [RCV001259831] Chr3:195068028..197851986 [GRCh37]
Chr3:3q29
pathogenic
GRCh37/hg19 3q29(chr3:195419168-197387258) copy number gain Behavioral abnormality [RCV001291957] Chr3:195419168..197387258 [GRCh37]
Chr3:3q29
pathogenic
NM_001128148.3(TFRC):c.1136A>G (p.Asn379Ser) single nucleotide variant Immunodeficiency 46 [RCV001336554] Chr3:196065505 [GRCh38]
Chr3:195792376 [GRCh37]
Chr3:3q29
uncertain significance
NC_000003.11:g.(?_195754030)_(196438852_?)dup duplication not provided [RCV001314246] Chr3:195754030..196438852 [GRCh37]
Chr3:3q29
uncertain significance
NM_001128148.3(TFRC):c.1678-3C>T single nucleotide variant Immunodeficiency 46 [RCV001329056] Chr3:196055304 [GRCh38]
Chr3:195782175 [GRCh37]
Chr3:3q29
uncertain significance
NM_001128148.3(TFRC):c.464G>C (p.Arg155Pro) single nucleotide variant Immunodeficiency 46 [RCV001329057] Chr3:196072123 [GRCh38]
Chr3:195798994 [GRCh37]
Chr3:3q29
uncertain significance
NM_001128148.3(TFRC):c.2186C>T (p.Thr729Met) single nucleotide variant Immunodeficiency 46 [RCV001333105] Chr3:196052039 [GRCh38]
Chr3:195778910 [GRCh37]
Chr3:3q29
uncertain significance
NM_001128148.3(TFRC):c.124G>A (p.Val42Ile) single nucleotide variant not provided [RCV001351669] Chr3:196075273 [GRCh38]
Chr3:195802144 [GRCh37]
Chr3:3q29
uncertain significance
NM_001128148.3(TFRC):c.1181A>G (p.Lys394Arg) single nucleotide variant Immunodeficiency 46 [RCV001329055] Chr3:196065460 [GRCh38]
Chr3:195792331 [GRCh37]
Chr3:3q29
uncertain significance
GRCh37/hg19 3q29(chr3:194498718-196196789)x1 copy number loss not provided [RCV001270643] Chr3:194498718..196196789 [GRCh37]
Chr3:3q29
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11763 AgrOrtholog
COSMIC TFRC COSMIC
Ensembl Genes ENSG00000072274 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000353224 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376197 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390133 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000402839 UniProtKB/TrEMBL
  ENSP00000414015 UniProtKB/TrEMBL
Ensembl Transcript ENST00000360110 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392396 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000420415 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000421258 UniProtKB/TrEMBL
  ENST00000426789 UniProtKB/TrEMBL
Gene3D-CATH 1.20.930.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000072274 GTEx
HGNC ID HGNC:11763 ENTREZGENE
Human Proteome Map TFRC Human Proteome Map
InterPro PA_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M28B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TfR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFR-like_dimer_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFR-like_dimer_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TfR1/2_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7037 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7037 ENTREZGENE
OMIM 190010 OMIM
  616740 OMIM
PANTHER PTHR10404 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10404:SF26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF02225 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFR_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36478 PharmGKB
Superfamily-SCOP SSF47672 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K6Q8 ENTREZGENE, UniProtKB/TrEMBL
  B7Z2I6 ENTREZGENE, UniProtKB/TrEMBL
  F8WBE5_HUMAN UniProtKB/TrEMBL
  G3V0E5 ENTREZGENE, UniProtKB/TrEMBL
  H7C3V5_HUMAN UniProtKB/TrEMBL
  P02786 ENTREZGENE
  Q7Z3E0 ENTREZGENE, UniProtKB/TrEMBL
  TFR1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DXB0 UniProtKB/Swiss-Prot
  Q1HE24 UniProtKB/Swiss-Prot
  Q59G55 UniProtKB/Swiss-Prot
  Q9UCN0 UniProtKB/Swiss-Prot
  Q9UCU5 UniProtKB/Swiss-Prot
  Q9UDF9 UniProtKB/Swiss-Prot
  Q9UK21 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-09-24 TFRC  transferrin receptor    transferrin receptor (p90, CD71)  Symbol and/or name change 5135510 APPROVED