CD163 (CD163 molecule) - Rat Genome Database

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Gene: CD163 (CD163 molecule) Homo sapiens
Analyze
Symbol: CD163
Name: CD163 molecule
RGD ID: 1321258
HGNC Page HGNC
Description: Enables scaffold protein binding activity. Predicted to be involved in acute-phase response and endocytosis. Located in external side of plasma membrane. Biomarker of several diseases, including Ebola hemorrhagic fever; Whipple disease; fatty liver disease (multiple); leishmaniasis (multiple); and lung disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cluster of differentiation 163; hemoglobin scavenger receptor; M130; macrophage-associated antigen; MM130; SCARI1; scavenger receptor cysteine-rich type 1 protein M130
RGD Orthologs
Mouse
Rat
Bonobo
Dog
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
GRCh38127,470,811 - 7,503,777 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl127,470,811 - 7,503,893 (-)EnsemblGRCh38hg38GRCh38
GRCh37127,623,407 - 7,656,373 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,514,676 - 7,547,681 (-)NCBINCBI36hg18NCBI36
Build 34127,515,020 - 7,547,639NCBI
Celera129,198,918 - 9,231,725 (-)NCBI
Cytogenetic Map12p13.31NCBI
HuRef127,436,319 - 7,469,334 (-)NCBIHuRef
CHM1_1127,622,379 - 7,655,379 (-)NCBICHM1_1
T2T-CHM13v2.0127,484,506 - 7,517,489 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Abdominal Obesity  (IEP)
Actinobacillus Infections  (ISO)
acute pancreatitis  (IEP)
Acute-On-Chronic Liver Failure  (IEP)
adult T-cell leukemia/lymphoma  (IEP)
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis  (IEP)
autosomal dominant familial periodic fever  (IAGP)
Brain Injuries, Traumatic  (ISO)
brucellosis  (IEP)
carotid artery disease  (EXP)
Chronic Hepatitis B  (IEP)
Chronic Hepatitis C  (IEP)
COVID-19  (HEP)
cutaneous leishmaniasis  (IEP)
developmental and epileptic encephalopathy 21  (IAGP)
diverticulitis of colon  (IEP)
Ebola hemorrhagic fever  (IEP)
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9  (IEP)
Epstein-Barr Virus Infections  (HEP,IEP)
Experimental Liver Cirrhosis  (EXP)
fatty liver disease  (IEP)
glomerulonephritis  (IEP)
Hantavirus hemorrhagic fever with renal syndrome  (IEP)
hemophagocytic lymphohistiocytosis  (IEP)
hepatocellular carcinoma  (EXP)
hidradenitis suppurativa  (IEP)
human immunodeficiency virus infectious disease  (IEP)
Human Viral Hepatitis  (IEP)
hyperglycemia  (EXP)
hyperinsulinism  (EXP)
Hyperphosphatemic Familial Tumoral Calcinosis 1  (IAGP)
IgA glomerulonephritis  (EXP)
Insulin Resistance  (EXP,IEP)
Klippel-Feil syndrome 3  (IAGP)
lepromatous leprosy  (IEP)
liver cirrhosis  (IEP)
Liver Failure  (IEP)
malaria  (IEP)
Metabolic Syndrome  (IEP)
multisystem inflammatory syndrome in children  (IAGP)
nasopharynx carcinoma  (IEP)
non-alcoholic fatty liver disease  (IEP)
obesity  (EXP)
ovarian cancer  (ISO)
peroxisome biogenesis disorder 2B  (IAGP)
pneumonia  (IEP)
Porcine Reproductive and Respiratory Syndrome  (ISO)
pulmonary tuberculosis  (IEP)
Sepsis  (IEP)
Spinal Cord Compression  (ISO)
Spontaneous Abortions  (EXP)
Staphylococcal Infections  (ISO)
Temtamy syndrome  (IAGP)
uveitis  (ISO)
visceral leishmaniasis  (IEP)
Whipple disease  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-butoxyethanol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
Bardoxolone methyl  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
chloroprene  (ISO)
choline  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
D-penicillamine  (ISO)
deguelin  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diclofenac  (ISO)
dioxygen  (ISO)
disulfiram  (EXP)
diuron  (ISO)
ethanol  (ISO)
flutamide  (ISO)
fructose  (ISO)
furan  (ISO)
gadolinium trichloride  (ISO)
indometacin  (EXP)
irinotecan  (ISO)
isoprenaline  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
mechlorethamine  (ISO)
medroxyprogesterone acetate  (EXP)
methimazole  (ISO)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
monobenzyl phthalate  (EXP)
Monobutylphthalate  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
perindopril  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP)
resveratrol  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
valsartan  (EXP)
vinclozolin  (ISO)
zinc sulfate  (EXP)
ziram  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. CD163 levels, pro- and anti-inflammatory cytokine secretion of monocytes in children with pulmonary tuberculosis. Aktas Cetin E, etal., Pediatr Pulmonol. 2017 May;52(5):675-683. doi: 10.1002/ppul.23617. Epub 2016 Sep 29.
2. Lack of association of tumor-associated macrophages with clinical outcome in patients with classical Hodgkin's lymphoma. Azambuja D, etal., Ann Oncol. 2012 Mar;23(3):736-742. doi: 10.1093/annonc/mdr157. Epub 2011 May 20.
3. Reduced sTWEAK and increased sCD163 levels in HIV-infected patients: modulation by antiretroviral treatment, HIV replication and HCV co-infection. Beltrán LM, etal., PLoS One. 2014 Mar 4;9(3):e90541. doi: 10.1371/journal.pone.0090541. eCollection 2014.
4. Collagen deposition in chronic hidradenitis suppurativa: potential role for CD163+ macrophages. Byrd AS, etal., Br J Dermatol. 2018 Sep;179(3):792-794. doi: 10.1111/bjd.16600. Epub 2018 Jun 29.
5. Expression of toll-like receptor 4 in uvea-resident tissue macrophages during endotoxin-induced uveitis. Chen W, etal., Mol Vis. 2009;15:619-28. Epub 2009 Mar 30.
6. Iron trafficking in patients with Indian Post kala-azar dermal leishmaniasis. Dighal A, etal., PLoS Negl Trop Dis. 2020 Feb 5;14(2):e0007991. doi: 10.1371/journal.pntd.0007991. eCollection 2020 Feb.
7. The macrophage activation marker CD163 is associated with IL28B genotype and hepatic inflammation in chronic hepatitis C virus infected patients. Dultz G, etal., J Viral Hepat. 2016 Apr;23(4):267-73. doi: 10.1111/jvh.12488. Epub 2015 Nov 10.
8. Tissue-resident macrophages in omentum promote metastatic spread of ovarian cancer. Etzerodt A, etal., J Exp Med. 2020 Apr 6;217(4). pii: 133611. doi: 10.1084/jem.20191869.
9. CD163 expression defines specific, IRF8-dependent, immune-modulatory macrophages in the bone marrow. Fischer-Riepe L, etal., J Allergy Clin Immunol. 2020 Nov;146(5):1137-1151. doi: 10.1016/j.jaci.2020.02.034. Epub 2020 Mar 19.
10. Serum soluble CD163 levels in patients with influenza-associated encephalopathy. Hasegawa S, etal., Brain Dev. 2013 Aug;35(7):626-9. doi: 10.1016/j.braindev.2012.10.005. Epub 2012 Nov 11.
11. Soluble CD163-Associated Dietary Patterns and the Risk of Metabolic Syndrome. Hu TY, etal., Nutrients. 2019 Apr 25;11(4). pii: nu11040940. doi: 10.3390/nu11040940.
12. M2-polarized tumour-associated macrophages in stroma correlate with poor prognosis and Epstein-Barr viral infection in nasopharyngeal carcinoma. Huang H, etal., Acta Otolaryngol. 2017 Aug;137(8):888-894. doi: 10.1080/00016489.2017.1296585. Epub 2017 Apr 10.
13. Tumor-infiltrating macrophages correlate with adverse prognosis and Epstein-Barr virus status in classical Hodgkin's lymphoma. Kamper P, etal., Haematologica. 2011 Feb;96(2):269-76. doi: 10.3324/haematol.2010.031542. Epub 2010 Nov 11.
14. Soluble CD163, a macrophage activation marker, is independently associated with fibrosis in patients with chronic viral hepatitis B and C. Kazankov K, etal., Hepatology. 2014 Aug;60(2):521-30. doi: 10.1002/hep.27129. Epub 2014 May 6.
15. Monocyte expression and soluble levels of the haemoglobin receptor (CD163/sCD163) and the mannose receptor (MR/sMR) in septic and critically ill non-septic ICU patients. Kjærgaard AG, etal., PLoS One. 2014 Mar 17;9(3):e92331. doi: 10.1371/journal.pone.0092331. eCollection 2014.
16. Clinical significance of CD163⁺ tumor-associated macrophages in patients with adult T-cell leukemia/lymphoma. Komohara Y, etal., Cancer Sci. 2013 Jul;104(7):945-51. doi: 10.1111/cas.12167. Epub 2013 May 9.
17. Levels of soluble CD163 and severity of malaria in children in Ghana. Kusi KA, etal., Clin Vaccine Immunol. 2008 Sep;15(9):1456-60. doi: 10.1128/CVI.00506-07. Epub 2008 Jul 16.
18. Expression of CD206 and CD163 on intermediate CD14++CD16+ monocytes are increased in hemorrhagic fever with renal syndrome and are correlated with disease severity. Li X, etal., Virus Res. 2018 Jul 15;253:92-102. doi: 10.1016/j.virusres.2018.05.021. Epub 2018 May 29.
19. Macrophage Activation Marker Soluble CD163 Associated with Fatal and Severe Ebola Virus Disease in Humans1. McElroy AK, etal., Emerg Infect Dis. 2019 Feb;25(2):290-298. doi: 10.3201/eid2502.181326.
20. Association between the haptoglobin and heme oxygenase 1 genetic profiles and soluble CD163 in susceptibility to and severity of human malaria. Mendonça VR, etal., Infect Immun. 2012 Apr;80(4):1445-54. doi: 10.1128/IAI.05933-11. Epub 2012 Jan 30.
21. Impaired immune functions of monocytes and macrophages in Whipple's disease. Moos V, etal., Gastroenterology. 2010 Jan;138(1):210-20. doi: 10.1053/j.gastro.2009.07.066. Epub 2009 Aug 5.
22. CD163 favors Mycobacterium leprae survival and persistence by promoting anti-inflammatory pathways in lepromatous macrophages. Moura DF, etal., Eur J Immunol. 2012 Nov;42(11):2925-36. doi: 10.1002/eji.201142198. Epub 2012 Sep 14.
23. Serum levels of the soluble haemoglobin scavenger receptor CD163 in MPO-ANCA-associated renal vasculitis. Nagai M, etal., Scand J Rheumatol. 2016 Oct;45(5):397-403. doi: 10.3109/03009742.2015.1127410. Epub 2016 Apr 20.
24. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
25. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
26. Soluble hemoglobin-haptoglobin scavenger receptor CD163 as a lineage-specific marker in the reactive hemophagocytic syndrome. Schaer DJ, etal., Eur J Haematol. 2005 Jan;74(1):6-10. doi: 10.1111/j.1600-0609.2004.00318.x.
27. sCD163 levels as a biomarker of disease severity in leprosy and visceral leishmaniasis. Silva RL, etal., PLoS Negl Trop Dis. 2017 Mar 29;11(3):e0005486. doi: 10.1371/journal.pntd.0005486. eCollection 2017 Mar.
28. Expression of substance P, neurokinin-1 receptor and immune markers in the brains of individuals with HIV-associated neuropathology. Spitsin S, etal., J Neurol Sci. 2013 Nov 15;334(1-2):18-23. doi: 10.1016/j.jns.2013.07.008. Epub 2013 Aug 2.
29. Serum levels of soluble CD163 and soluble CD14 following antibiotic therapy of patients with acute brucellosis. Sun H, etal., J Infect Dev Ctries. 2019 Aug 31;13(8):714-719. doi: 10.3855/jidc.10602.
30. Utility of Macrophage-activated Marker CD163 for Diagnosis and Prognosis in Pulmonary Tuberculosis. Suzuki Y, etal., Ann Am Thorac Soc. 2017 Jan;14(1):57-64. doi: 10.1513/AnnalsATS.201607-528OC.
31. Altered monocyte phenotype and dysregulated innate cytokine responses among people living with HIV and opioid-use disorder. Underwood ML, etal., AIDS. 2020 Feb 1;34(2):177-188. doi: 10.1097/QAD.0000000000002416.
32. Cellular neuroinflammation in a lateral forceps compression model of spinal cord injury. Vaughn CN, etal., Anat Rec (Hoboken). 2013 Aug;296(8):1229-46. doi: 10.1002/ar.22730. Epub 2013 Jun 17.
33. Association of steroid use with complicated sigmoid diverticulitis: potential role of activated CD68+/CD163+ macrophages. von Rahden BH, etal., Langenbecks Arch Surg. 2011 Aug;396(6):759-68. doi: 10.1007/s00423-011-0797-4. Epub 2011 May 7.
34. Expression of serum sCD163 in patients with liver diseases and inflammatory disorders. Wang J, etal., Int J Clin Exp Pathol. 2015 Jul 1;8(7):8419-25. eCollection 2015.
35. Elevated soluble CD163 plasma levels are associated with disease severity in patients with hemorrhagic fever with renal syndrome. Wang J, etal., PLoS One. 2014 Nov 13;9(11):e112127. doi: 10.1371/journal.pone.0112127. eCollection 2014.
36. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
37. Increased CD163 expression is associated with acute-on-chronic hepatitis B liver failure. Ye H, etal., World J Gastroenterol. 2013 May 14;19(18):2818-25. doi: 10.3748/wjg.v19.i18.2818.
38. Liver myofibroblasts up-regulate monocyte CD163 expression via PGE2 during hepatitis B induced liver failure. Zhang M, etal., J Transl Med. 2014 Mar 6;12:60. doi: 10.1186/1479-5876-12-60.
39. Soluble Scavenger Receptor CD163 Is Associated with Severe Acute Kidney Injury in Patients with Hantaan Virus Infection. Zhang Y, etal., Viral Immunol. 2015 May;28(4):241-6. doi: 10.1089/vim.2014.0112. Epub 2015 Mar 19.
40. Lesional accumulation of CD163+ macrophages/microglia in rat traumatic brain injury. Zhang Z, etal., Brain Res. 2012 Jun 21;1461:102-10. doi: 10.1016/j.brainres.2012.04.038. Epub 2012 Apr 27.
Additional References at PubMed
PMID:8125298   PMID:8370408   PMID:10066432   PMID:10403791   PMID:10577520   PMID:10648003   PMID:11124526   PMID:11196644   PMID:11298324   PMID:11334962   PMID:11688984   PMID:11854028  
PMID:11865982   PMID:12115225   PMID:12208511   PMID:12296867   PMID:12377940   PMID:12477932   PMID:14656926   PMID:14962251   PMID:15075364   PMID:15146432   PMID:15448162   PMID:15478309  
PMID:15479433   PMID:15489334   PMID:15624762   PMID:15846794   PMID:16189277   PMID:16335952   PMID:16344560   PMID:16434690   PMID:16507898   PMID:16517975   PMID:16522161   PMID:17095719  
PMID:17102136   PMID:17117055   PMID:17255364   PMID:17460152   PMID:17525367   PMID:17548657   PMID:17629586   PMID:17947394   PMID:18078989   PMID:18276779   PMID:18316565   PMID:18320015  
PMID:18410276   PMID:18542032   PMID:18563533   PMID:18604302   PMID:18849484   PMID:18976975   PMID:19040468   PMID:19131549   PMID:19473660   PMID:19528371   PMID:19582880   PMID:19885719  
PMID:19910578   PMID:19961729   PMID:20139978   PMID:20237496   PMID:20299688   PMID:20379614   PMID:20472850   PMID:20807704   PMID:21120485   PMID:21653829   PMID:21692033   PMID:21737148  
PMID:21766094   PMID:21799753   PMID:21813065   PMID:21839737   PMID:21873635   PMID:21933102   PMID:21962403   PMID:22044760   PMID:22060747   PMID:22098563   PMID:22211334   PMID:22279103  
PMID:22289504   PMID:22309204   PMID:22354894   PMID:22362417   PMID:22407921   PMID:22450890   PMID:22453843   PMID:22504842   PMID:22540373   PMID:22682876   PMID:22807450   PMID:22884782  
PMID:22911680   PMID:22937125   PMID:22948049   PMID:22949100   PMID:23011084   PMID:23013330   PMID:23150181   PMID:23165891   PMID:23224400   PMID:23289476   PMID:23326413   PMID:23463035  
PMID:23539121   PMID:23555776   PMID:23555801   PMID:23589619   PMID:23595052   PMID:23640944   PMID:23660665   PMID:23671278   PMID:23692821   PMID:23792028   PMID:23800379   PMID:23873589  
PMID:23922818   PMID:24118665   PMID:24138337   PMID:24423341   PMID:24489836   PMID:24498098   PMID:24515766   PMID:24548423   PMID:24574232   PMID:24577568   PMID:24578130   PMID:24583499  
PMID:24603711   PMID:24612259   PMID:24612419   PMID:24619759   PMID:24651679   PMID:24741586   PMID:24748497   PMID:24765881   PMID:24780929   PMID:24810263   PMID:24813472   PMID:24842486  
PMID:24846388   PMID:24858806   PMID:24859792   PMID:24874739   PMID:24883329   PMID:24916404   PMID:24934531   PMID:24942581   PMID:24978196   PMID:24983948   PMID:25074267   PMID:25109683  
PMID:25156085   PMID:25281471   PMID:25346048   PMID:25366599   PMID:25376508   PMID:25388964   PMID:25461761   PMID:25499804   PMID:25587690   PMID:25602697   PMID:25747973   PMID:25869385  
PMID:25944005   PMID:26045748   PMID:26087825   PMID:26135617   PMID:26209500   PMID:26352275   PMID:26376364   PMID:26549495   PMID:26568320   PMID:26569178   PMID:26616677   PMID:26916171  
PMID:26985764   PMID:27100336   PMID:27102725   PMID:27242373   PMID:27354410   PMID:27355513   PMID:27591510   PMID:27679428   PMID:28005267   PMID:28084321   PMID:28103926   PMID:28282272  
PMID:28392117   PMID:28406702   PMID:28455006   PMID:28639912   PMID:28687956   PMID:28715286   PMID:28805986   PMID:29021532   PMID:29226859   PMID:29288002   PMID:29345059   PMID:29424780  
PMID:29445750   PMID:29457790   PMID:29468486   PMID:29506265   PMID:29610117   PMID:29657141   PMID:29663331   PMID:29725763   PMID:29795672   PMID:29801971   PMID:29802679   PMID:29868826  
PMID:29868909   PMID:29967280   PMID:29973670   PMID:30031096   PMID:30246699   PMID:30254632   PMID:30258108   PMID:30380100   PMID:30548982   PMID:30558648   PMID:30575644   PMID:30734215  
PMID:30842629   PMID:30851700   PMID:31071174   PMID:31109698   PMID:31209811   PMID:31240481   PMID:31242338   PMID:31268976   PMID:31541232   PMID:31677389   PMID:31711674   PMID:31752995  
PMID:31918162   PMID:32120844   PMID:32296183   PMID:32333612   PMID:32351512   PMID:32431194   PMID:32580398   PMID:32615997   PMID:32752088   PMID:32901498   PMID:32967511   PMID:33011401  
PMID:33085074   PMID:33203735   PMID:33216379   PMID:33310266   PMID:33332647   PMID:33433406   PMID:33498620   PMID:33586094   PMID:33686666   PMID:33764002   PMID:33777012   PMID:33878617  
PMID:34201498   PMID:34231937   PMID:34256095   PMID:34370345   PMID:34395626   PMID:34542797   PMID:34725292   PMID:34755559   PMID:34797860   PMID:35003086   PMID:35011566   PMID:35163309  
PMID:35190247   PMID:35233677  


Genomics

Comparative Map Data
CD163
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38127,470,811 - 7,503,777 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl127,470,811 - 7,503,893 (-)EnsemblGRCh38hg38GRCh38
GRCh37127,623,407 - 7,656,373 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36127,514,676 - 7,547,681 (-)NCBINCBI36hg18NCBI36
Build 34127,515,020 - 7,547,639NCBI
Celera129,198,918 - 9,231,725 (-)NCBI
Cytogenetic Map12p13.31NCBI
HuRef127,436,319 - 7,469,334 (-)NCBIHuRef
CHM1_1127,622,379 - 7,655,379 (-)NCBICHM1_1
T2T-CHM13v2.0127,484,506 - 7,517,489 (-)NCBI
Cd163
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396124,281,596 - 124,307,488 (+)NCBIGRCm39mm39
GRCm39 Ensembl6124,281,615 - 124,307,486 (+)Ensembl
GRCm386124,304,636 - 124,330,529 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6124,304,656 - 124,330,527 (+)EnsemblGRCm38mm10GRCm38
MGSCv376124,254,669 - 124,280,545 (+)NCBIGRCm37mm9NCBIm37
MGSCv366124,270,275 - 124,296,146 (+)NCBImm8
Celera6125,994,313 - 126,020,180 (+)NCBICelera
Cytogenetic Map6F2NCBI
Cd163
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24157,085,080 - 157,118,470 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl4157,085,093 - 157,117,878 (+)Ensembl
Rnor_6.04156,752,063 - 156,785,467 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4156,752,082 - 156,785,467 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04223,769,336 - 223,802,725 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44160,394,833 - 160,428,208 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14160,639,152 - 160,669,269 (+)NCBI
Celera4145,861,321 - 145,894,692 (+)NCBICelera
Cytogenetic Map4q42NCBI
CD163
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1127,779,244 - 7,812,351 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl127,775,343 - 7,810,023 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0127,616,714 - 7,649,768 (-)NCBIMhudiblu_PPA_v0panPan3
CD163
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12737,669,757 - 37,700,746 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2737,669,827 - 37,753,106 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha278,915,837 - 8,946,494 (-)NCBI
ROS_Cfam_1.02738,023,513 - 38,054,487 (+)NCBI
ROS_Cfam_1.0 Ensembl2738,023,571 - 38,105,604 (+)Ensembl
UMICH_Zoey_3.12737,898,042 - 37,928,650 (+)NCBI
UNSW_CanFamBas_1.02737,939,566 - 37,969,977 (+)NCBI
UU_Cfam_GSD_1.0278,402,538 - 8,433,169 (-)NCBI
CD163
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl563,300,146 - 63,334,498 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1563,300,200 - 63,334,497 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CD163
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1117,501,562 - 7,536,332 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl117,501,150 - 7,536,295 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666063667,595 - 702,654 (+)NCBIVero_WHO_p1.0
Cd163
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248603,975,747 - 4,000,349 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046248603,976,746 - 4,000,349 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D12S1890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,633,331 - 7,633,595UniSTSGRCh37
Build 36127,524,598 - 7,524,862RGDNCBI36
Celera129,208,841 - 9,209,105RGD
Cytogenetic Map12p13.3UniSTS
HuRef127,446,239 - 7,446,503UniSTS
Stanford-G3 RH Map12507.0UniSTS
NCBI RH Map12146.4UniSTS
GeneMap99-G3 RH Map12507.0UniSTS
STS-H93331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37127,647,004 - 7,647,253UniSTSGRCh37
Build 36127,538,271 - 7,538,520RGDNCBI36
Celera129,222,442 - 9,222,691RGD
Cytogenetic Map12p13.3UniSTS
HuRef127,459,919 - 7,460,168UniSTS
GeneMap99-GB4 RH Map1245.6UniSTS
STS-T92350  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p13.3UniSTS
GeneMap99-GB4 RH Map1245.6UniSTS
NCBI RH Map12120.6UniSTS
G15942  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p13.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1132
Count of miRNA genes:483
Interacting mature miRNAs:515
Transcripts:ENST00000359156, ENST00000396620, ENST00000432237, ENST00000534848, ENST00000537044, ENST00000537626, ENST00000538840, ENST00000539632, ENST00000541972, ENST00000542280, ENST00000542705
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 9 6 1 1 3 4 7
Medium 1799 2193 968 321 1120 210 2606 1106 937 166 745 1046 112 1147 1693 2
Low 514 740 727 283 211 233 1463 974 1998 193 601 351 51 1 50 1065 2 2
Below cutoff 93 49 26 17 200 19 252 109 789 51 97 175 9 30 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_163255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA962842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC131206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI128043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI129762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA619387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB291765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ058615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z22968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z22969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z22970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z22971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359156   ⟹   ENSP00000352071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,470,813 - 7,503,893 (-)Ensembl
RefSeq Acc Id: ENST00000396620   ⟹   ENSP00000379863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,471,180 - 7,503,776 (-)Ensembl
RefSeq Acc Id: ENST00000432237   ⟹   ENSP00000403885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,470,811 - 7,503,777 (-)Ensembl
RefSeq Acc Id: ENST00000534848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,471,171 - 7,471,936 (-)Ensembl
RefSeq Acc Id: ENST00000537044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,470,816 - 7,503,776 (-)Ensembl
RefSeq Acc Id: ENST00000537626   ⟹   ENSP00000439226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,471,180 - 7,483,492 (-)Ensembl
RefSeq Acc Id: ENST00000538840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,483,294 - 7,485,418 (-)Ensembl
RefSeq Acc Id: ENST00000539632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,483,400 - 7,485,344 (-)Ensembl
RefSeq Acc Id: ENST00000541972   ⟹   ENSP00000444071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,471,180 - 7,502,737 (-)Ensembl
RefSeq Acc Id: ENST00000542280   ⟹   ENSP00000445438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,471,176 - 7,483,574 (-)Ensembl
RefSeq Acc Id: ENST00000542705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl127,470,974 - 7,473,179 (-)Ensembl
RefSeq Acc Id: NM_001370145   ⟹   NP_001357074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,470,811 - 7,503,777 (-)NCBI
T2T-CHM13v2.0127,484,506 - 7,517,489 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370146   ⟹   NP_001357075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,470,811 - 7,503,777 (-)NCBI
T2T-CHM13v2.0127,484,506 - 7,517,489 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004244   ⟹   NP_004235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,470,811 - 7,503,777 (-)NCBI
GRCh37127,623,412 - 7,656,414 (-)NCBI
Build 36127,514,676 - 7,547,681 (-)NCBI Archive
HuRef127,436,319 - 7,469,334 (-)NCBI
CHM1_1127,622,379 - 7,655,379 (-)NCBI
T2T-CHM13v2.0127,484,506 - 7,517,489 (-)NCBI
Sequence:
RefSeq Acc Id: NM_203416   ⟹   NP_981961
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,470,811 - 7,503,777 (-)NCBI
GRCh37127,623,412 - 7,656,414 (-)NCBI
Build 36127,514,676 - 7,547,681 (-)NCBI Archive
HuRef127,436,319 - 7,469,334 (-)NCBI
CHM1_1127,622,379 - 7,655,379 (-)NCBI
T2T-CHM13v2.0127,484,506 - 7,517,489 (-)NCBI
Sequence:
RefSeq Acc Id: NR_163255
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,470,811 - 7,503,777 (-)NCBI
T2T-CHM13v2.0127,484,506 - 7,517,489 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449278   ⟹   XP_024305046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,470,811 - 7,503,777 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047429895   ⟹   XP_047285851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38127,480,067 - 7,503,777 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_981961   ⟸   NM_203416
- Peptide Label: isoform b precursor
- UniProtKB: Q86VB7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004235   ⟸   NM_004244
- Peptide Label: isoform a precursor
- UniProtKB: Q86VB7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024305046   ⟸   XM_024449278
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001357075   ⟸   NM_001370146
- Peptide Label: isoform c
RefSeq Acc Id: NP_001357074   ⟸   NM_001370145
- Peptide Label: isoform b precursor
RefSeq Acc Id: ENSP00000352071   ⟸   ENST00000359156
RefSeq Acc Id: ENSP00000444071   ⟸   ENST00000541972
RefSeq Acc Id: ENSP00000445438   ⟸   ENST00000542280
RefSeq Acc Id: ENSP00000439226   ⟸   ENST00000537626
RefSeq Acc Id: ENSP00000403885   ⟸   ENST00000432237
RefSeq Acc Id: ENSP00000379863   ⟸   ENST00000396620
RefSeq Acc Id: XP_047285851   ⟸   XM_047429895
- Peptide Label: isoform X1
Protein Domains
SRCR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86VB7-F1-model_v2 AlphaFold Q86VB7 1-1156 view protein structure

Promoters
RGD ID:7223029
Promoter ID:EPDNEW_H17260
Type:initiation region
Name:CD163_1
Description:CD163 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
GRCh38127,503,777 - 7,503,837EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1 copy number loss See cases [RCV000052779] Chr12:6728665..7705620 [GRCh38]
Chr12:6837831..7858216 [GRCh37]
Chr12:6708092..7749483 [NCBI36]
Chr12:12p13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_004244.5(CD163):c.3453G>A (p.Lys1151=) single nucleotide variant Malignant melanoma [RCV000070211] Chr12:7479887 [GRCh38]
Chr12:7632483 [GRCh37]
Chr12:7523750 [NCBI36]
Chr12:12p13.31		 not provided
NM_004244.5(CD163):c.1922G>A (p.Gly641Glu) single nucleotide variant Malignant melanoma [RCV000070212] Chr12:7487487 [GRCh38]
Chr12:7640083 [GRCh37]
Chr12:7531350 [NCBI36]
Chr12:12p13.31		 not provided
NM_004244.5(CD163):c.1199G>A (p.Arg400Lys) single nucleotide variant Malignant melanoma [RCV000070213] Chr12:7495302 [GRCh38]
Chr12:7647898 [GRCh37]
Chr12:7539165 [NCBI36]
Chr12:12p13.31		 not provided
NM_004244.5(CD163):c.929C>T (p.Pro310Leu) single nucleotide variant Malignant melanoma [RCV000070214] Chr12:7496983 [GRCh38]
Chr12:7649579 [GRCh37]
Chr12:7540846 [NCBI36]
Chr12:12p13.31		 not provided
NM_004244.5(CD163):c.768G>A (p.Val256=) single nucleotide variant Malignant melanoma [RCV000070215] Chr12:7498878 [GRCh38]
Chr12:7651474 [GRCh37]
Chr12:7542741 [NCBI36]
Chr12:12p13.31		 not provided
NM_004244.5(CD163):c.624C>T (p.Phe208=) single nucleotide variant Malignant melanoma [RCV000070216] Chr12:7499022 [GRCh38]
Chr12:7651618 [GRCh37]
Chr12:7542885 [NCBI36]
Chr12:12p13.31		 not provided
NM_004244.5(CD163):c.607G>A (p.Gly203Arg) single nucleotide variant Malignant melanoma [RCV000070217] Chr12:7499039 [GRCh38]
Chr12:7651635 [GRCh37]
Chr12:7542902 [NCBI36]
Chr12:12p13.31		 not provided
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.31(chr12:6911437-9381254)x3 copy number gain not provided [RCV000750277] Chr12:6911437..9381254 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_203416.4(CD163):c.222G>A (p.Thr74=) single nucleotide variant not provided [RCV000960208] Chr12:7501374 [GRCh38]
Chr12:7653970 [GRCh37]
Chr12:12p13.31		 benign
NM_203416.4(CD163):c.2676T>C (p.Asn892=) single nucleotide variant not provided [RCV000960933] Chr12:7485199 [GRCh38]
Chr12:7637795 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
NM_203416.4(CD163):c.3344-56G>A single nucleotide variant not provided [RCV000883752] Chr12:7479969 [GRCh38]
Chr12:7632565 [GRCh37]
Chr12:12p13.31		 likely benign
NM_203416.4(CD163):c.3024T>C (p.Cys1008=) single nucleotide variant not provided [RCV000965884] Chr12:7483431 [GRCh38]
Chr12:7636027 [GRCh37]
Chr12:12p13.31		 benign
NM_203416.4(CD163):c.3344-24C>A single nucleotide variant not provided [RCV000967252] Chr12:7479937 [GRCh38]
Chr12:7632533 [GRCh37]
Chr12:12p13.31		 benign
NM_203416.4(CD163):c.1686C>G (p.Arg562=) single nucleotide variant not provided [RCV000927281] Chr12:7487822 [GRCh38]
Chr12:7640418 [GRCh37]
Chr12:12p13.31		 likely benign
NM_203416.4(CD163):c.2763C>T (p.Thr921=) single nucleotide variant not provided [RCV000903537] Chr12:7485112 [GRCh38]
Chr12:7637708 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Temtamy syndrome [RCV000816630] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6945914)_(8248706_?)dup duplication Temtamy syndrome [RCV001031096] Chr12:6945914..8248706 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_203416.4(CD163):c.1709G>A (p.Ser570Asn) single nucleotide variant not provided [RCV000967253] Chr12:7487799 [GRCh38]
Chr12:7640395 [GRCh37]
Chr12:12p13.31		 benign
NM_203416.4(CD163):c.457+9T>A single nucleotide variant not provided [RCV000955440] Chr12:7501130 [GRCh38]
Chr12:7653726 [GRCh37]
Chr12:12p13.31		 benign
NM_203416.4(CD163):c.1926T>A (p.Asn642Lys) single nucleotide variant not provided [RCV000957048] Chr12:7487483 [GRCh38]
Chr12:7640079 [GRCh37]
Chr12:12p13.31		 benign
NM_203416.4(CD163):c.2599C>T (p.Leu867=) single nucleotide variant not provided [RCV000957047] Chr12:7485276 [GRCh38]
Chr12:7637872 [GRCh37]
Chr12:12p13.31		 benign
NC_000012.11:g.(?_6945914)_(9027627_?)dup duplication Developmental and epileptic encephalopathy, 21 [RCV001325295]|Klippel-Feil syndrome 3, autosomal dominant [RCV001301079]|Temtamy syndrome [RCV000816630]|not provided [RCV001859243] Chr12:6945914..9027627 [GRCh37]
Chr12:12p13.31		 uncertain significance
NM_203416.4(CD163):c.1024A>G (p.Ile342Val) single nucleotide variant not provided [RCV001663123] Chr12:7496888 [GRCh38]
Chr12:7649484 [GRCh37]
Chr12:12p13.31		 benign
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
NM_203416.4(CD163):c.3223C>T (p.Arg1075Ter) single nucleotide variant Multisystem inflammatory syndrome in children [RCV001779422] Chr12:7482667 [GRCh38]
Chr12:7635263 [GRCh37]
Chr12:12p13.31		 risk factor
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6438478)_(8248686_?)dup duplication TNF receptor-associated periodic fever syndrome (TRAPS) [RCV001913768]|not provided [RCV001913769] Chr12:6438478..8248686 [GRCh37]
Chr12:12p13.31		 uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31		 uncertain significance
NC_000012.11:g.(?_6978008)_(9010204_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001877402] Chr12:6978008..9010204 [GRCh37]
Chr12:12p13.31		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1631 AgrOrtholog
COSMIC CD163 COSMIC
Ensembl Genes ENSG00000177575 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000352071 ENTREZGENE
  ENSP00000352071.4 UniProtKB/Swiss-Prot
  ENSP00000379863 ENTREZGENE
  ENSP00000379863.3 UniProtKB/TrEMBL
  ENSP00000403885 ENTREZGENE
  ENSP00000403885.2 UniProtKB/Swiss-Prot
  ENSP00000439226.1 UniProtKB/TrEMBL
  ENSP00000444071.1 UniProtKB/TrEMBL
  ENSP00000445438.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000359156 ENTREZGENE
  ENST00000359156.8 UniProtKB/Swiss-Prot
  ENST00000396620 ENTREZGENE
  ENST00000396620.7 UniProtKB/TrEMBL
  ENST00000432237 ENTREZGENE
  ENST00000432237.3 UniProtKB/Swiss-Prot
  ENST00000537044 ENTREZGENE
  ENST00000537626.5 UniProtKB/TrEMBL
  ENST00000541972.5 UniProtKB/TrEMBL
  ENST00000542280.5 UniProtKB/TrEMBL
Gene3D-CATH 3.10.250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000177575 GTEx
HGNC ID HGNC:1631 ENTREZGENE
Human Proteome Map CD163 Human Proteome Map
InterPro SRCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9332 UniProtKB/Swiss-Prot
NCBI Gene 9332 ENTREZGENE
OMIM 605545 OMIM
Pfam SRCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26190 PharmGKB
PRINTS SPERACTRCPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SRCR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00202 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56487 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C163A_HUMAN UniProtKB/Swiss-Prot
  C9JHR8_HUMAN UniProtKB/TrEMBL
  D3DUU0_HUMAN UniProtKB/TrEMBL
  D3DUU2_HUMAN UniProtKB/TrEMBL
  F5GZZ9_HUMAN UniProtKB/TrEMBL
  H0YFM0_HUMAN UniProtKB/TrEMBL
  H0YGZ7_HUMAN UniProtKB/TrEMBL
  Q86VB7 ENTREZGENE
UniProt Secondary C9JIG2 UniProtKB/Swiss-Prot
  Q07898 UniProtKB/Swiss-Prot
  Q07899 UniProtKB/Swiss-Prot
  Q07900 UniProtKB/Swiss-Prot
  Q07901 UniProtKB/Swiss-Prot
  Q2VLH7 UniProtKB/Swiss-Prot