SFTPD (surfactant protein D) - Rat Genome Database

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Gene: SFTPD (surfactant protein D) Homo sapiens
Analyze
Symbol: SFTPD
Name: surfactant protein D
RGD ID: 735702
HGNC Page HGNC:10803
Description: Predicted to enable carbohydrate binding activity. Involved in lung alveolus development and surfactant homeostasis. Predicted to be located in several cellular components, including clathrin-coated endocytic vesicle; endoplasmic reticulum membrane; and lysosome. Predicted to be part of collagen trimer. Predicted to be active in extracellular space and multivesicular body. Implicated in asthma; lung disease (multiple); respiratory syncytial virus infectious disease; and rhinitis. Biomarker of several diseases, including cystic fibrosis; lung disease (multiple); respiratory syncytial virus infectious disease; sarcoidosis; and systemic lupus erythematosus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COLEC7; collectin 7; collectin-7; lung surfactant protein D; PSP-D; pulmonary surfactant apoprotein; pulmonary surfactant-associated protein D; SFTP4; SP-D; surfactant, pulmonary-associated protein D; surfactant-associated protein, pulmonary 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381079,937,740 - 79,982,383 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1079,937,467 - 79,982,614 (-)EnsemblGRCh38hg38GRCh38
GRCh371081,697,496 - 81,708,861 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361081,687,476 - 81,698,841 (-)NCBINCBI36Build 36hg18NCBI36
Build 341081,687,486 - 81,698,836NCBI
Celera1075,688,432 - 75,699,799 (-)NCBICelera
Cytogenetic Map10q22.3NCBI
HuRef1075,540,246 - 75,551,613 (-)NCBIHuRef
CHM1_11081,980,534 - 81,991,901 (-)NCBICHM1_1
T2T-CHM13v2.01080,806,973 - 80,851,624 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-methylcholanthrene  (ISO)
6-propyl-2-thiouracil  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
beryllium sulfate  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
cadmium dichloride  (ISO)
carbon monoxide  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
D-glucose  (EXP)
decabromodiphenyl ether  (EXP)
dichlorine  (ISO)
Didecyldimethylammonium  (EXP)
dioxygen  (ISO)
epoxiconazole  (ISO)
folic acid  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (ISO)
glucose  (EXP)
hydrogen chloride  (ISO)
inulin  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
mechlorethamine  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
nitrates  (ISO)
nitrofen  (ISO)
nitrogen dioxide  (EXP)
O-methyleugenol  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
resveratrol  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
Sucralfate  (ISO)
sulfadimethoxine  (ISO)
terbutaline  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
triclosan  (EXP)
vinclozolin  (ISO)
vitamin D  (ISO)
zearalenone  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Pneumocystis carinii pneumonia alters expression and distribution of lung collectins SP-A and SP-D. Atochina EN, etal., J Lab Clin Med. 2001 Jun;137(6):429-39.
2. Attenuated allergic airway hyperresponsiveness in C57BL/6 mice is associated with enhanced surfactant protein (SP)-D production following allergic sensitization. Atochina EN, etal., Respir Res. 2003 Dec 8;4:15. Print 2003.
3. Immune reconstitution during Pneumocystis lung infection: disruption of surfactant component expression and function by S-nitrosylation. Atochina-Vasserman EN, etal., J Immunol. 2009 Feb 15;182(4):2277-87.
4. Patterns of neutrophil serine protease-dependent cleavage of surfactant protein D in inflammatory lung disease. Cooley J, etal., J Leukoc Biol. 2008 Apr;83(4):946-55. Epub 2008 Jan 22.
5. Association between single nucleotide polymorphisms of surfactant protein D and allergic rhinitis in Chinese patients. Deng YQ, etal., Tissue Antigens. 2009 Jun;73(6):546-52.
6. Sivelestat sodium hydrate improves septic acute lung injury by reducing alveolar dysfunction. Endo S, etal., Res Commun Mol Pathol Pharmacol. 2006;119(1-6):53-65.
7. Surfactant protein levels in bronchoalveolar lavage after segmental allergen challenge in patients with asthma. Erpenbeck VJ, etal., Allergy. 2006 May;61(5):598-604.
8. Surfactant protein D inhibits early airway response in Aspergillus fumigatus-sensitized mice. Erpenbeck VJ, etal., Clin Exp Allergy. 2006 Jul;36(7):930-40.
9. Pulmonary-specific expression of SP-D corrects pulmonary lipid accumulation in SP-D gene-targeted mice. Fisher JH, etal., Am J Physiol Lung Cell Mol Physiol. 2000 Feb;278(2):L365-73.
10. Polymorphisms in Surfactant Protein D are Associated with COPD. Foreman MG, etal., Am J Respir Cell Mol Biol. 2010 May 6.
11. Serum surfactant protein D is increased in acute and chronic inflammation in mice. Fujita M, etal., Cytokine. 2005 Jul 7;31(1):25-33.
12. Rat respiratory coronavirus infection: replication in airway and alveolar epithelial cells and the innate immune response. Funk CJ, etal., J Gen Virol. 2009 Dec;90(Pt 12):2956-64. Epub 2009 Sep 9.
13. Relationship between pulmonary surfactant protein and lipid peroxidation in lung injury due to paraquat intoxication in rats. Gil HW, etal., Korean J Intern Med. 2007 Jun;22(2):67-72.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. Serial changes in surfactant-associated proteins in lung and serum before and after onset of ARDS. Greene KE, etal., Am J Respir Crit Care Med. 1999 Dec;160(6):1843-50.
16. Pulmonary surfactant, lung function, and endobronchial inflammation in cystic fibrosis. Griese M, etal., Am J Respir Crit Care Med. 2004 Nov 1;170(9):1000-5. Epub 2004 Jul 21.
17. Children with absent surfactant protein D in bronchoalveolar lavage have more frequently pneumonia. Griese M, etal., Pediatr Allergy Immunol. 2008 Nov;19(7):639-47. Epub 2008 Feb 11.
18. Aspergillus fumigatus-induced allergic airway inflammation alters surfactant homeostasis and lung function in BALB/c mice. Haczku A, etal., Am J Respir Cell Mol Biol. 2001 Jul;25(1):45-50.
19. Surfactant protein D and KL-6 as serum biomarkers of interstitial lung disease in patients with scleroderma. Hant FN, etal., J Rheumatol. 2009 Apr;36(4):773-80. Epub 2009 Mar 13.
20. Circulating surfactant protein D is decreased in systemic lupus erythematosus. Hoegh SV, etal., J Rheumatol. 2009 Nov;36(11):2449-53. Epub 2009 Oct 15.
21. Nihon Kyobu Shikkan Gakkai zasshi Honda Y Nihon Kyobu Shikkan Gakkai Zasshi. 1996 Dec;34 Suppl:181-5.
22. Surfactant protein-D and surfactant inhibit endotoxin-induced pulmonary inflammation. Ikegami M, etal., Chest. 2007 Nov;132(5):1447-54. Epub 2007 Oct 9.
23. SP-D-deficient mice are resistant to hyperoxia. Jain D, etal., Am J Physiol Lung Cell Mol Physiol. 2007 Apr;292(4):L861-71. Epub 2006 Dec 8.
24. Surfactant protein D protects against acute hyperoxic lung injury. Jain D, etal., Am J Respir Crit Care Med. 2008 Oct 15;178(8):805-13. Epub 2008 Jul 17.
25. The role of surfactant protein D in the colonisation of the respiratory tract and onset of bacteraemia during pneumococcal pneumonia. Jounblat R, etal., Respir Res. 2005 Oct 28;6:126.
26. Surfactant protein levels in severe respiratory syncytial virus infection. Kerr MH and Paton JY, Am J Respir Crit Care Med. 1999 Apr;159(4 Pt 1):1115-8.
27. Surfactant Protein D Deficiency Increases Lung Injury during Endotoxemia. King BA and Kingma PS, Am J Respir Cell Mol Biol. 2010 Jul 16.
28. Correction of pulmonary abnormalities in Sftpd-/- mice requires the collagenous domain of surfactant protein D. Kingma PS, etal., J Biol Chem. 2006 Aug 25;281(34):24496-505. Epub 2006 Jun 20.
29. Elevation of surfactant protein D, a pulmonary disease biomarker, in the sera of uveitis patients with sarcoidosis. Kitaichi N, etal., Jpn J Ophthalmol. 2010 Jan;54(1):81-4. Epub 2010 Feb 12.
30. Clinical importance of bronchoalveolar lavage fluid and blood cytokines, surfactant protein D, and Kerbs von Lungren 6 antigen in idiopathic pulmonary alveolar proteinosis. Lin FC, etal., Mayo Clin Proc. 2008 Dec;83(12):1344-9.
31. Susceptibility of mice genetically deficient in SP-A or SP-D gene to invasive pulmonary aspergillosis. Madan T, etal., Mol Immunol. 2010 Jun;47(10):1923-30. Epub 2010 Apr 21.
32. Prognostic value of serum surfactant protein D level prior to transplant for the development of bronchiolitis obliterans syndrome and idiopathic pneumonia syndrome following allogeneic hematopoietic stem cell transplantation. Nakane T, etal., Bone Marrow Transplant. 2008 Jul;42(1):43-9. Epub 2008 Mar 17.
33. Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia. Pavlovic J, etal., Dis Markers. 2006;22(5-6):277-91.
34. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
35. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
36. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
37. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
38. Total extracellular surfactant is increased but abnormal in a rat model of gram-negative bacterial pneumonia. Russo TA, etal., Am J Physiol Lung Cell Mol Physiol. 2002 Sep;283(3):L655-63.
39. Respiratory distress after intratracheal bleomycin: selective deficiency of surfactant proteins B and C. Savani RC, etal., Am J Physiol Lung Cell Mol Physiol. 2001 Sep;281(3):L685-96.
40. Pulmonary surfactant in patients with Pneumocystis pneumonia and acquired immunodeficiency syndrome. Schmidt R, etal., Crit Care Med. 2006 Sep;34(9):2370-6.
41. Increased surfactant protein a and d expression in acute ovalbumin-induced allergic airway inflammation in brown norway rats. Schmiedl A, etal., Int Arch Allergy Immunol. 2009;148(2):118-26. Epub 2008 Sep 19.
42. Serum surfactant protein D during acute exacerbations of chronic obstructive pulmonary disease. Shakoori TA, etal., Dis Markers. 2009;27(6):287-94.
43. The effects of fluticasone with or without salmeterol on systemic biomarkers of inflammation in chronic obstructive pulmonary disease. Sin DD, etal., Am J Respir Crit Care Med. 2008 Jun 1;177(11):1207-14. Epub 2008 Feb 28.
44. Surfactant protein D and bronchial dysplasia in smokers at high risk of lung cancer. Sin DD, etal., Chest. 2008 Sep;134(3):582-8.
45. The association between BMI and plasma cytokine levels in patients with acute lung injury. Stapleton RD, etal., Chest. 2010 Sep;138(3):568-77. Epub 2010 Apr 30.
46. Surfactant protein D regulates airway function and allergic inflammation through modulation of macrophage function. Takeda K, etal., Am J Respir Crit Care Med. 2003 Oct 1;168(7):783-9. Epub 2003 Jul 25.
47. Haplotypes of the surfactant protein genes A and D as susceptibility factors for the development of respiratory distress syndrome. Thomas NJ, etal., Acta Paediatr. 2007 Jul;96(7):985-9. Epub 2007 May 24.
48. Transmission of surfactant protein variants and haplotypes in children hospitalized with respiratory syncytial virus. Thomas NJ, etal., Pediatr Res. 2009 Jul;66(1):70-3.
49. Novel strategy to identify genetic risk factors for COPD severity: a genetic isolate. van Diemen CC, etal., Eur Respir J. 2010 Apr;35(4):768-75. Epub 2009 Sep 24.
50. Elevated expression of surfactant proteins in newborn rats during adaptation to hyperoxia. White CW, etal., Am J Respir Cell Mol Biol. 2001 Jul;25(1):51-9.
51. Sinonasal surfactant protein A1, A2, and D gene expression in cystic fibrosis: a preliminary report. Woodworth BA, etal., Otolaryngol Head Neck Surg. 2007 Jul;137(1):34-8.
52. Serum levels of surfactant protein D predict the anti-tumor activity of gefitinib in patients with advanced non-small cell lung cancer. Yamaguchi H, etal., Cancer Chemother Pharmacol. 2010 Apr 17.
53. Prescreening based on the presence of CT-scan abnormalities and biomarkers (KL-6 and SP-D) may reduce severe radiation pneumonitis after stereotactic radiotherapy. Yamashita H, etal., Radiat Oncol. 2010 May 9;5:32.
Additional References at PubMed
PMID:1339284   PMID:1400434   PMID:1898081   PMID:1932100   PMID:8006040   PMID:8226864   PMID:8406480   PMID:8424457   PMID:8428971   PMID:8630261   PMID:8889548   PMID:9153228  
PMID:9751757   PMID:9777404   PMID:10101009   PMID:10368295   PMID:10485905   PMID:10542261   PMID:10820266   PMID:11278637   PMID:11854236   PMID:11912209   PMID:11916969   PMID:11967276  
PMID:12032263   PMID:12218102   PMID:12218146   PMID:12244199   PMID:12477932   PMID:12479105   PMID:12654643   PMID:12654779   PMID:12730206   PMID:12753670   PMID:12853121   PMID:12884308  
PMID:12888356   PMID:13680361   PMID:15067073   PMID:15102713   PMID:15123664   PMID:15145932   PMID:15164054   PMID:15173172   PMID:15244040   PMID:15274124   PMID:15489334   PMID:15608147  
PMID:15661913   PMID:15700120   PMID:15711012   PMID:15951332   PMID:16061223   PMID:16114131   PMID:16227233   PMID:16361352   PMID:16385451   PMID:16406431   PMID:16426259   PMID:16514117  
PMID:16636058   PMID:16709857   PMID:16834340   PMID:16889547   PMID:17083016   PMID:17209137   PMID:17412287   PMID:17567900   PMID:17693780   PMID:17703412   PMID:17848554   PMID:17874049  
PMID:17999785   PMID:18052966   PMID:18092821   PMID:18191856   PMID:18226251   PMID:18251786   PMID:18302538   PMID:18355911   PMID:18359891   PMID:18498293   PMID:18657106   PMID:18676680  
PMID:18785967   PMID:18811961   PMID:18983439   PMID:18990700   PMID:18991397   PMID:19017984   PMID:19140875   PMID:19164344   PMID:19170196   PMID:19249874   PMID:19258923   PMID:19275746  
PMID:19336370   PMID:19340882   PMID:19348329   PMID:19378784   PMID:19439011   PMID:19478465   PMID:19540617   PMID:19577304   PMID:19590686   PMID:19625176   PMID:19684355   PMID:19692168  
PMID:19799916   PMID:19913121   PMID:20056602   PMID:20086254   PMID:20205699   PMID:20207732   PMID:20211020   PMID:20228064   PMID:20237496   PMID:20360592   PMID:20453000   PMID:20457545  
PMID:20503287   PMID:20512337   PMID:20560296   PMID:20601494   PMID:20628086   PMID:20683434   PMID:20799037   PMID:21171185   PMID:21204009   PMID:21233593   PMID:21310059   PMID:21396106  
PMID:21489996   PMID:21560203   PMID:21601013   PMID:21678446   PMID:21790524   PMID:21821801   PMID:21828236   PMID:21858107   PMID:21873635   PMID:21934714   PMID:21960125   PMID:22288595  
PMID:22289856   PMID:22509983   PMID:22511785   PMID:22846212   PMID:22860023   PMID:22983659   PMID:23012359   PMID:23052388   PMID:23144326   PMID:23244171   PMID:23314596   PMID:23391661  
PMID:23406594   PMID:23435141   PMID:23527085   PMID:23577114   PMID:23588945   PMID:23841811   PMID:23874631   PMID:23932215   PMID:24093802   PMID:24120837   PMID:24121782   PMID:24224757  
PMID:24264011   PMID:24390342   PMID:24391984   PMID:24400879   PMID:24504887   PMID:24585933   PMID:24608429   PMID:24610936   PMID:24705721   PMID:24712849   PMID:24880792   PMID:24960334  
PMID:25015576   PMID:25036364   PMID:25291941   PMID:25362659   PMID:25376584   PMID:25537934   PMID:25591150   PMID:25728058   PMID:25848896   PMID:25851191   PMID:26206179   PMID:26344197  
PMID:26424433   PMID:26568332   PMID:26603976   PMID:26617840   PMID:26748346   PMID:26836907   PMID:26953329   PMID:27012038   PMID:27078193   PMID:27293304   PMID:27350640   PMID:27754829  
PMID:27758987   PMID:28011976   PMID:28168327   PMID:28212617   PMID:28228557   PMID:28351530   PMID:28464801   PMID:28585516   PMID:28591049   PMID:28641719   PMID:28745320   PMID:28791362  
PMID:28960651   PMID:29025303   PMID:29107869   PMID:29272472   PMID:29324810   PMID:29425774   PMID:29601229   PMID:29621540   PMID:29626540   PMID:29663427   PMID:30127783   PMID:30235245  
PMID:30366943   PMID:30562646   PMID:30587835   PMID:30619359   PMID:30672154   PMID:30753482   PMID:30897289   PMID:31000851   PMID:31083857   PMID:31116231   PMID:31850711   PMID:31918059  
PMID:32299301   PMID:32432921   PMID:32725941   PMID:33542717   PMID:33635872   PMID:33668070   PMID:33679736   PMID:33784482   PMID:33790414   PMID:34011150   PMID:34054808   PMID:34344306  
PMID:34439781   PMID:34559461   PMID:34638783   PMID:34780682   PMID:34842360   PMID:34998715   PMID:35157648   PMID:35317741   PMID:35967323   PMID:37239479   PMID:37489844   PMID:38184074  
PMID:38245585   PMID:38375572  


Genomics

Comparative Map Data
SFTPD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381079,937,740 - 79,982,383 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1079,937,467 - 79,982,614 (-)EnsemblGRCh38hg38GRCh38
GRCh371081,697,496 - 81,708,861 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361081,687,476 - 81,698,841 (-)NCBINCBI36Build 36hg18NCBI36
Build 341081,687,486 - 81,698,836NCBI
Celera1075,688,432 - 75,699,799 (-)NCBICelera
Cytogenetic Map10q22.3NCBI
HuRef1075,540,246 - 75,551,613 (-)NCBIHuRef
CHM1_11081,980,534 - 81,991,901 (-)NCBICHM1_1
T2T-CHM13v2.01080,806,973 - 80,851,624 (-)NCBIT2T-CHM13v2.0
Sftpd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391440,894,169 - 40,907,155 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1440,894,171 - 40,907,106 (-)EnsemblGRCm39 Ensembl
GRCm381441,172,212 - 41,185,198 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1441,172,214 - 41,185,149 (-)EnsemblGRCm38mm10GRCm38
MGSCv371441,985,501 - 41,998,487 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361440,080,927 - 40,093,876 (-)NCBIMGSCv36mm8
Celera1437,332,219 - 37,345,205 (-)NCBICelera
Cytogenetic Map14BNCBI
cM Map1422.36NCBI
Sftpd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81617,080,575 - 17,093,047 (-)NCBIGRCr8
mRatBN7.21617,046,491 - 17,058,968 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1617,046,483 - 17,059,927 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1617,110,520 - 17,122,892 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01618,238,920 - 18,251,351 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01617,163,418 - 17,175,790 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01618,753,535 - 18,766,100 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1618,745,458 - 18,766,174 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01618,621,441 - 18,633,581 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1617,272,045 - 17,284,082 (-)NCBICelera
RH 3.4 Map16167.0RGD
Cytogenetic Map16p14NCBI
Sftpd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955510213,438 - 225,896 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955510213,468 - 226,096 (+)NCBIChiLan1.0ChiLan1.0
SFTPD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2891,904,806 - 91,950,749 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11091,910,131 - 91,957,119 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01076,275,147 - 76,318,952 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11078,965,252 - 78,974,181 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1078,965,252 - 78,974,181 (+)Ensemblpanpan1.1panPan2
SFTPD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1429,394,755 - 29,407,499 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl429,394,678 - 29,407,293 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha429,519,118 - 29,533,724 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0429,696,757 - 29,711,366 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl429,696,745 - 29,709,347 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1429,566,382 - 29,580,989 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0429,769,003 - 29,783,612 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0430,123,008 - 30,137,617 (+)NCBIUU_Cfam_GSD_1.0
Sftpd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721351,337,526 - 51,349,920 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493671660,656 - 73,099 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493671660,754 - 73,010 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SFTPD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1482,051,451 - 82,067,976 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11482,051,400 - 82,069,258 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21488,660,094 - 88,675,023 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SFTPD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1951,809,241 - 51,820,974 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl951,811,052 - 51,820,650 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604812,161,420 - 12,172,864 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sftpd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248416,916,849 - 6,936,077 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248416,917,067 - 6,938,594 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SFTPD
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q22.3-23.1(chr10:79882162-80327290)x1 copy number loss See cases [RCV000051071] Chr10:79882162..80327290 [GRCh38]
Chr10:81641918..82087046 [GRCh37]
Chr10:81631898..82077026 [NCBI36]
Chr10:10q22.3-23.1
uncertain significance
GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1 copy number loss See cases [RCV000052534] Chr10:79719429..87358394 [GRCh38]
Chr10:81479185..89118151 [GRCh37]
Chr10:81149191..89108131 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1 copy number loss See cases [RCV000052537] Chr10:79802022..87358394 [GRCh38]
Chr10:81561459..89118151 [GRCh37]
Chr10:81541288..89108131 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 copy number loss See cases [RCV000052539] Chr10:79882162..87068261 [GRCh38]
Chr10:81641918..88828018 [GRCh37]
Chr10:81631898..88817998 [NCBI36]
Chr10:10q22.3-23.2
pathogenic|conflicting data from submitters
GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1 copy number loss See cases [RCV000052541] Chr10:79898516..86964367 [GRCh38]
Chr10:81658272..88724124 [GRCh37]
Chr10:81648252..88714104 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1 copy number loss See cases [RCV000052542] Chr10:79898516..87358394 [GRCh38]
Chr10:81658272..89118151 [GRCh37]
Chr10:81648252..89108131 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1 copy number loss See cases [RCV000052544] Chr10:79898516..87109827 [GRCh38]
Chr10:81658272..88869584 [GRCh37]
Chr10:81648252..88859564 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3 copy number gain See cases [RCV000053558] Chr10:79881238..87182117 [GRCh38]
Chr10:81640994..88941874 [GRCh37]
Chr10:81630974..88931854 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
NM_003019.4(SFTPD):c.1020G>A (p.Gly340=) single nucleotide variant Malignant melanoma [RCV000062082] Chr10:79937960 [GRCh38]
Chr10:81697716 [GRCh37]
Chr10:81687696 [NCBI36]
Chr10:10q22.3
not provided
GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1 copy number loss See cases [RCV000135348] Chr10:79925613..86951708 [GRCh38]
Chr10:81685369..88711465 [GRCh37]
Chr10:81675349..88701445 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3(chr10:79882162-80202422)x1 copy number loss See cases [RCV000136564] Chr10:79882162..80202422 [GRCh38]
Chr10:81641918..81962178 [GRCh37]
Chr10:81631898..81952158 [NCBI36]
Chr10:10q22.3
uncertain significance
GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1 copy number loss See cases [RCV000136565] Chr10:79802022..87068261 [GRCh38]
Chr10:81561459..88828018 [GRCh37]
Chr10:81263385..88817998 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
GRCh38/hg38 10q22.3(chr10:79881238-80198984)x1 copy number loss See cases [RCV000137733] Chr10:79881238..80198984 [GRCh38]
Chr10:81640994..81958740 [GRCh37]
Chr10:81630974..81948720 [NCBI36]
Chr10:10q22.3
likely benign|uncertain significance
GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1 copy number loss See cases [RCV000141724] Chr10:79689360..87223773 [GRCh38]
Chr10:81449116..88983530 [GRCh37]
Chr10:81119122..88973510 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1 copy number loss See cases [RCV000143178] Chr10:79881238..87180672 [GRCh38]
Chr10:81640994..88940429 [GRCh37]
Chr10:81630974..88930409 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 copy number loss See cases [RCV000148069] Chr10:79882162..87068261 [GRCh38]
Chr10:81641918..88828018 [GRCh37]
Chr10:81631898..88817998 [NCBI36]
Chr10:10q22.3-23.2
pathogenic
NM_003019.5(SFTPD):c.925G>A (p.Glu309Lys) single nucleotide variant not provided [RCV004718063]|not specified [RCV000151859] Chr10:79938055 [GRCh38]
Chr10:81697811 [GRCh37]
Chr10:10q22.3
benign
NM_003019.5(SFTPD):c.868T>A (p.Ser290Thr) single nucleotide variant not provided [RCV004718064]|not specified [RCV000151860] Chr10:79938112 [GRCh38]
Chr10:81697868 [GRCh37]
Chr10:10q22.3
benign
NM_003019.5(SFTPD):c.538A>G (p.Thr180Ala) single nucleotide variant not provided [RCV001651021]|not specified [RCV000151861] Chr10:79941966 [GRCh38]
Chr10:81701722 [GRCh37]
Chr10:10q22.3
benign
NM_003019.5(SFTPD):c.367C>G (p.Leu123Val) single nucleotide variant not provided [RCV004718065]|not specified [RCV000151862] Chr10:79942454 [GRCh38]
Chr10:81702210 [GRCh37]
Chr10:10q22.3
benign
NM_003019.5(SFTPD):c.297G>A (p.Lys99=) single nucleotide variant not provided [RCV004718066]|not specified [RCV000151863] Chr10:79942782 [GRCh38]
Chr10:81702538 [GRCh37]
Chr10:10q22.3
benign
NM_003019.5(SFTPD):c.135T>C (p.Ser45=) single nucleotide variant not provided [RCV004718067]|not specified [RCV000151864] Chr10:79946525 [GRCh38]
Chr10:81706281 [GRCh37]
Chr10:10q22.3
benign
NM_003019.5(SFTPD):c.92T>C (p.Met31Thr) single nucleotide variant not provided [RCV001689698]|not specified [RCV000151865] Chr10:79946568 [GRCh38]
Chr10:79946568..79946569 [GRCh38]
Chr10:81706324 [GRCh37]
Chr10:81706324..81706325 [GRCh37]
Chr10:10q22.3
benign
NM_003019.5(SFTPD):c.918T>C (p.Ala306=) single nucleotide variant not provided [RCV004718083]|not specified [RCV000155579] Chr10:79938062 [GRCh38]
Chr10:81697818 [GRCh37]
Chr10:10q22.3
benign
NM_003019.5(SFTPD):c.110T>A (p.Leu37Gln) single nucleotide variant not specified [RCV000203218] Chr10:79946550 [GRCh38]
Chr10:81706306 [GRCh37]
Chr10:10q22.3
likely pathogenic|uncertain significance
NM_003019.5(SFTPD):c.199+9G>A single nucleotide variant SFTPD-related disorder [RCV003929879]|not provided [RCV000881910]|not specified [RCV000220246] Chr10:79946452 [GRCh38]
Chr10:81706208 [GRCh37]
Chr10:10q22.3
benign|likely benign
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88975551)x1 copy number loss See cases [RCV000447214] Chr10:81630468..88975551 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88973570)x3 copy number gain See cases [RCV000448704] Chr10:81630468..88973570 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_003019.5(SFTPD):c.752-19_752-16del deletion not specified [RCV000455481] Chr10:79938244..79938247 [GRCh38]
Chr10:81698000..81698003 [GRCh37]
Chr10:10q22.3
benign
GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1 copy number loss See cases [RCV000511644] Chr10:81597767..88951347 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1 copy number loss See cases [RCV000511693] Chr10:81617260..88980961 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q22.3(chr10:81614689-81976925)x1 copy number loss See cases [RCV000511423] Chr10:81614689..81976925 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_003019.5(SFTPD):c.158G>A (p.Arg53Gln) single nucleotide variant not specified [RCV000605999] Chr10:79946502 [GRCh38]
Chr10:81706258 [GRCh37]
Chr10:10q22.3
likely benign
NM_003019.5(SFTPD):c.883G>A (p.Ala295Thr) single nucleotide variant not specified [RCV000615319] Chr10:79938097 [GRCh38]
Chr10:81697853 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3(chr10:81597766-81979552)x3 copy number gain not provided [RCV000683230] Chr10:81597766..81979552 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3-23.1(chr10:79808669-84008729)x3 copy number gain not provided [RCV000683275] Chr10:79808669..84008729 [GRCh37]
Chr10:10q22.3-23.1
uncertain significance
GRCh37/hg19 10q22.3(chr10:81630468-81976925)x3 copy number gain not provided [RCV000683223] Chr10:81630468..81976925 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3(chr10:81617260-81976925)x1 copy number loss not provided [RCV000683226] Chr10:81617260..81976925 [GRCh37]
Chr10:10q22.3
likely benign|uncertain significance
GRCh37/hg19 10q22.3(chr10:81603169-81976925)x1 copy number loss not provided [RCV000683229] Chr10:81603169..81976925 [GRCh37]
Chr10:10q22.3
likely benign
GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3 copy number gain not provided [RCV000683282] Chr10:81644079..88973306 [GRCh37]
Chr10:10q22.3-23.2
pathogenic|likely pathogenic
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847) copy number loss not provided [RCV000767565] Chr10:81697811..88768847 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
NM_003019.5(SFTPD):c.179G>A (p.Arg60Gln) single nucleotide variant not specified [RCV004298091] Chr10:79946481 [GRCh38]
Chr10:81706237 [GRCh37]
Chr10:10q22.3
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787370] Chr10:81630953..81966548 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.550+187A>G single nucleotide variant not provided [RCV001674833] Chr10:79941767 [GRCh38]
Chr10:81701523 [GRCh37]
Chr10:10q22.3
benign
GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1 copy number loss not provided [RCV001006339] Chr10:81617260..88980961 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
NM_003019.5(SFTPD):c.752-113C>T single nucleotide variant not provided [RCV001637705] Chr10:79938341 [GRCh38]
Chr10:81698097 [GRCh37]
Chr10:10q22.3
benign
Single allele deletion not provided [RCV001260503] Chr10:81585301..89101700 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q22.3(chr10:81457752-81990746)x1 copy number loss not provided [RCV001260107] Chr10:81457752..81990746 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3-23.1(chr10:81028088-82059110)x3 copy number gain not provided [RCV001258449] Chr10:81028088..82059110 [GRCh37]
Chr10:10q22.3-23.1
uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1 copy number loss not provided [RCV001258450] Chr10:81617260..89146780 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1 copy number loss not provided [RCV001258451] Chr10:81457752..89253430 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
GRCh37/hg19 10q22.3(chr10:81597767-81971690)x3 copy number gain not provided [RCV001827805] Chr10:81597767..81971690 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3(chr10:81630469-81979676)x3 copy number gain not provided [RCV001827879] Chr10:81630469..81979676 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3(chr10:81446907-81844436)x1 copy number loss not provided [RCV001827886] Chr10:81446907..81844436 [GRCh37]
Chr10:10q22.3
likely benign
GRCh37/hg19 10q22.3-23.1(chr10:81622295-83932730)x1 copy number loss not provided [RCV001827611] Chr10:81622295..83932730 [GRCh37]
Chr10:10q22.3-23.1
uncertain significance
GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961) copy number loss Chromosome 10q23 deletion syndrome [RCV002280714] Chr10:81630468..88980961 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
Single allele deletion not provided [RCV002227597] Chr10:79614895..80224601 [GRCh38]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3-23.31(chr10:80585057-89721049)x3 copy number gain not provided [RCV002266548] Chr10:80585057..89721049 [GRCh37]
Chr10:10q22.3-23.31
not provided
GRCh37/hg19 10q22.3(chr10:81603170-81984775)x1 copy number loss not provided [RCV002474832] Chr10:81603170..81984775 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.334G>A (p.Gly112Ser) single nucleotide variant not specified [RCV004124777] Chr10:79942487 [GRCh38]
Chr10:81702243 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.173G>A (p.Gly58Asp) single nucleotide variant not specified [RCV004160334] Chr10:79946487 [GRCh38]
Chr10:81706243 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.204G>T (p.Leu68Phe) single nucleotide variant not specified [RCV004171446] Chr10:79942875 [GRCh38]
Chr10:81702631 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.172G>A (p.Gly58Ser) single nucleotide variant not specified [RCV004104441] Chr10:79946488 [GRCh38]
Chr10:81706244 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.34C>A (p.Leu12Ile) single nucleotide variant not specified [RCV004101870] Chr10:79946626 [GRCh38]
Chr10:81706382 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.485C>T (p.Ala162Val) single nucleotide variant not specified [RCV004107690] Chr10:79942019 [GRCh38]
Chr10:81701775 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.668A>G (p.Asp223Gly) single nucleotide variant not specified [RCV004140273] Chr10:79940788 [GRCh38]
Chr10:81700544 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.556G>T (p.Ala186Ser) single nucleotide variant not specified [RCV004123572] Chr10:79941509 [GRCh38]
Chr10:81701265 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.80C>T (p.Ser27Phe) single nucleotide variant not specified [RCV004248548] Chr10:79946580 [GRCh38]
Chr10:81706336 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.530C>G (p.Pro177Arg) single nucleotide variant not specified [RCV004270002] Chr10:79941974 [GRCh38]
Chr10:81701730 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.895G>T (p.Ala299Ser) single nucleotide variant not specified [RCV004248789] Chr10:79938085 [GRCh38]
Chr10:81697841 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.400A>G (p.Lys134Glu) single nucleotide variant not specified [RCV004277011] Chr10:79942421 [GRCh38]
Chr10:81702177 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3 copy number gain See cases [RCV003329515] Chr10:81611360..89264122 [GRCh37]
Chr10:10q22.3-23.2
pathogenic
NM_003019.5(SFTPD):c.743A>G (p.Tyr248Cys) single nucleotide variant not specified [RCV004361865] Chr10:79940713 [GRCh38]
Chr10:81700469 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q22.3(chr10:81289036-81872800)x1 copy number loss not provided [RCV003483099] Chr10:81289036..81872800 [GRCh37]
Chr10:10q22.3
uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
NM_003019.5(SFTPD):c.1082dup (p.Asn361fs) duplication SFTPD-related disorder [RCV003399939] Chr10:79937897..79937898 [GRCh38]
Chr10:81697653..81697654 [GRCh37]
Chr10:10q22.3
uncertain significance
NM_003019.5(SFTPD):c.825G>A (p.Thr275=) single nucleotide variant SFTPD-related disorder [RCV003959150] Chr10:79938155 [GRCh38]
Chr10:81697911 [GRCh37]
Chr10:10q22.3
benign
NM_003019.5(SFTPD):c.484G>A (p.Ala162Thr) single nucleotide variant SFTPD-related disorder [RCV003964237] Chr10:79942020 [GRCh38]
Chr10:81701776 [GRCh37]
Chr10:10q22.3
uncertain significance
NC_000010.10:g.(?_81697608)_(82049179_?)del deletion Hepatic methionine adenosyltransferase deficiency [RCV004580405] Chr10:81697608..82049179 [GRCh37]
Chr10:10q22.3-23.1
pathogenic
NC_000010.10:g.(?_81697608)_(82049179_?)dup duplication Hepatic methionine adenosyltransferase deficiency [RCV004580406] Chr10:81697608..82049179 [GRCh37]
Chr10:10q22.3-23.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:662
Count of miRNA genes:471
Interacting mature miRNAs:529
Transcripts:ENST00000372292, ENST00000444384
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597365146GWAS1461220_Hblood protein measurement QTL GWAS1461220 (human)2e-37blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)107995598279955983Human
597457560GWAS1553634_Hpulmonary surfactant-associated protein d measurement QTL GWAS1553634 (human)3e-19pulmonary surfactant-associated protein d measurement107995653779956538Human
597263646GWAS1359720_HCOVID-19 QTL GWAS1359720 (human)0.0000005COVID-19107994656879946569Human
596951838GWAS1071357_HCOVID-19 QTL GWAS1071357 (human)2e-11COVID-19107996393979963940Human
597261460GWAS1357534_HCOVID-19 QTL GWAS1357534 (human)0.000009COVID-19107994656879946569Human
406921870GWAS570846_Hchronic obstructive pulmonary disease QTL GWAS570846 (human)2e-08lung integrity trait (VT:0010906)107994656879946569Human
597523598GWAS1619672_Hpulmonary surfactant-associated protein d measurement QTL GWAS1619672 (human)9e-137pulmonary surfactant-associated protein d measurement107994440079944401Human
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human
597143107GWAS1239181_Hchronic obstructive pulmonary disease QTL GWAS1239181 (human)6e-14lung integrity trait (VT:0010906)107994656879946569Human
597194114GWAS1290188_HCOVID-19 QTL GWAS1290188 (human)8e-09COVID-19107994656879946569Human
597284357GWAS1380431_Hpulmonary surfactant-associated protein d measurement QTL GWAS1380431 (human)5e-25pulmonary surfactant-associated protein d measurement107994656879946569Human
597231685GWAS1327759_Hblood protein measurement QTL GWAS1327759 (human)7e-3453blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)107994656879946569Human
597192517GWAS1288591_HCOVID-19 QTL GWAS1288591 (human)2e-10COVID-19107994656879946569Human
597487864GWAS1583938_HCOVID-19 QTL GWAS1583938 (human)2e-11COVID-19107996393979963940Human
407146274GWAS795250_Hrheumatoid arthritis QTL GWAS795250 (human)9e-09rheumatoid arthritis107994721779947218Human
597358002GWAS1454076_Hchronic obstructive pulmonary disease, surfactant protein D measurement QTL GWAS1454076 (human)2e-27lung integrity trait (VT:0010906)107997622579976226Human
407002920GWAS651896_HFEV/FVC ratio QTL GWAS651896 (human)2e-15FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)107994656879946569Human
597501299GWAS1597373_Hsurfactant protein D measurement QTL GWAS1597373 (human)2e-13surfactant protein D measurement107995131179951312Human
597247977GWAS1344051_Hchronic obstructive pulmonary disease QTL GWAS1344051 (human)9e-08lung integrity trait (VT:0010906)107994656879946569Human
597028839GWAS1124913_Hrheumatoid arthritis QTL GWAS1124913 (human)8e-08rheumatoid arthritis107994721779947218Human
597511850GWAS1607924_HCOVID-19 QTL GWAS1607924 (human)0.000003COVID-19107995804279958043Human
597347042GWAS1443116_HFEV/FVC ratio QTL GWAS1443116 (human)7e-21FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)107994656879946569Human
407226492GWAS875468_Hchronic obstructive pulmonary disease, surfactant protein D measurement QTL GWAS875468 (human)5e-09lung integrity trait (VT:0010906)107994567779945678Human
597432999GWAS1529073_Hprotein measurement QTL GWAS1529073 (human)2e-716protein measurement107994656879946569Human
597140588GWAS1236662_Hpulmonary surfactant-associated protein d measurement QTL GWAS1236662 (human)1e-196pulmonary surfactant-associated protein d measurement107994656879946569Human
597479783GWAS1575857_Hpulmonary surfactant-associated protein d measurement QTL GWAS1575857 (human)1e-15pulmonary surfactant-associated protein d measurement107994952379949524Human
597501600GWAS1597674_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS1597674 (human)0.000009severe acute respiratory syndrome, COVID-19107996093579960936Human
597036969GWAS1133043_Hrheumatoid arthritis QTL GWAS1133043 (human)0.000001rheumatoid arthritis107994721779947218Human

Markers in Region
GDB:216194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371081,697,528 - 81,697,895UniSTSGRCh37
Build 361081,687,508 - 81,687,875RGDNCBI36
Celera1075,688,464 - 75,688,831RGD
Cytogenetic Map10q22.2-q23.1UniSTS
HuRef1075,540,278 - 75,540,645UniSTS
D10S2423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371081,697,613 - 81,697,752UniSTSGRCh37
Build 361081,687,593 - 81,687,732RGDNCBI36
Celera1075,688,549 - 75,688,688RGD
Cytogenetic Map10q22.2-q23.1UniSTS
HuRef1075,540,363 - 75,540,502UniSTS
GeneMap99-GB4 RH Map10399.29UniSTS
NCBI RH Map10985.0UniSTS
PMC127735P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371081,701,720 - 81,702,196UniSTSGRCh37
Build 361081,691,700 - 81,692,176RGDNCBI36
Celera1075,692,658 - 75,693,134RGD
Cytogenetic Map10q22.2-q23.1UniSTS
HuRef1075,544,472 - 75,544,948UniSTS
STS-X65018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371081,697,681 - 81,697,858UniSTSGRCh37
Build 361081,687,661 - 81,687,838RGDNCBI36
Celera1075,688,617 - 75,688,794RGD
Cytogenetic Map10q22.2-q23.1UniSTS
HuRef1075,540,431 - 75,540,608UniSTS
GeneMap99-GB4 RH Map10399.93UniSTS
NCBI RH Map10985.0UniSTS
SFTPD_2859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371081,697,510 - 81,698,008UniSTSGRCh37
Build 361081,687,490 - 81,687,988RGDNCBI36
Celera1075,688,446 - 75,688,944RGD
HuRef1075,540,260 - 75,540,758UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1200 2332 2751 2221 4851 1677 2281 4 593 1381 434 2208 6570 5884 35 3675 1 829 1714 1578 172

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF034862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY216721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI820265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM985387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN033811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X65018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000372292   ⟹   ENSP00000361366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1079,937,740 - 79,949,105 (-)Ensembl
Ensembl Acc Id: ENST00000444384   ⟹   ENSP00000394325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1079,941,449 - 79,982,614 (-)Ensembl
Ensembl Acc Id: ENST00000678361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1079,937,467 - 79,944,708 (-)Ensembl
Ensembl Acc Id: ENST00000679234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1079,937,467 - 79,944,946 (-)Ensembl
RefSeq Acc Id: NM_003019   ⟹   NP_003010
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381079,937,740 - 79,949,105 (-)NCBI
GRCh371081,697,496 - 81,708,861 (-)ENTREZGENE
Build 361081,687,476 - 81,698,841 (-)NCBI Archive
HuRef1075,540,246 - 75,551,613 (-)ENTREZGENE
CHM1_11081,980,534 - 81,991,901 (-)NCBI
T2T-CHM13v2.01080,806,973 - 80,818,340 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540087   ⟹   XP_011538389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381079,937,740 - 79,982,383 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540088   ⟹   XP_011538390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381079,937,740 - 79,949,105 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054366588   ⟹   XP_054222563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01080,806,973 - 80,851,624 (-)NCBI
RefSeq Acc Id: XM_054366589   ⟹   XP_054222564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01080,806,973 - 80,818,340 (-)NCBI
RefSeq Acc Id: NP_003010   ⟸   NM_003019
- Peptide Label: precursor
- UniProtKB: P35247 (UniProtKB/Swiss-Prot),   Q9UCJ2 (UniProtKB/Swiss-Prot),   Q8TCD8 (UniProtKB/Swiss-Prot),   Q86YK9 (UniProtKB/Swiss-Prot),   Q6FH08 (UniProtKB/Swiss-Prot),   Q5T0M3 (UniProtKB/Swiss-Prot),   Q9UCJ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538389   ⟸   XM_011540087
- Peptide Label: isoform X1
- UniProtKB: P35247 (UniProtKB/Swiss-Prot),   Q9UCJ2 (UniProtKB/Swiss-Prot),   Q8TCD8 (UniProtKB/Swiss-Prot),   Q86YK9 (UniProtKB/Swiss-Prot),   Q6FH08 (UniProtKB/Swiss-Prot),   Q5T0M3 (UniProtKB/Swiss-Prot),   Q9UCJ3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538390   ⟸   XM_011540088
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000361366   ⟸   ENST00000372292
Ensembl Acc Id: ENSP00000394325   ⟸   ENST00000444384
RefSeq Acc Id: XP_054222563   ⟸   XM_054366588
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054222564   ⟸   XM_054366589
- Peptide Label: isoform X2
Protein Domains
C-type lectin   Collagen-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P35247-F1-model_v2 AlphaFold P35247 1-375 view protein structure

Promoters
RGD ID:7217961
Promoter ID:EPDNEW_H14726
Type:multiple initiation site
Name:SFTPD_1
Description:surfactant protein D
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
GRCh381079,949,105 - 79,949,165EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10803 AgrOrtholog
COSMIC SFTPD COSMIC
Ensembl Genes ENSG00000133661 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000372292 ENTREZGENE
  ENST00000372292.8 UniProtKB/Swiss-Prot
  ENST00000444384.3 UniProtKB/TrEMBL
Gene3D-CATH 3.10.100.10 UniProtKB/Swiss-Prot
  SFTPD helical domain UniProtKB/Swiss-Prot
GTEx ENSG00000133661 GTEx
HGNC ID HGNC:10803 ENTREZGENE
Human Proteome Map SFTPD Human Proteome Map
InterPro C-type_lectin-like UniProtKB/Swiss-Prot
  C-type_lectin-like/link_sf UniProtKB/Swiss-Prot
  C-type_lectin_CS UniProtKB/Swiss-Prot
  Ca-dependent_lectin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen_superfamily UniProtKB/TrEMBL
  Collectin_CTLD UniProtKB/Swiss-Prot
  CTDL_fold UniProtKB/Swiss-Prot
  Surfac_D-trimer UniProtKB/Swiss-Prot
KEGG Report hsa:6441 UniProtKB/Swiss-Prot
NCBI Gene 6441 ENTREZGENE
OMIM 178635 OMIM
PANTHER COLLAGEN ALPHA UniProtKB/TrEMBL
  COLLAGEN ALPHA-1(X) CHAIN UniProtKB/TrEMBL
  PULMONARY SURFACTANT-ASSOCIATED PROTEIN A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PULMONARY SURFACTANT-ASSOCIATED PROTEIN D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lectin_C UniProtKB/Swiss-Prot
  Surfac_D-trimer UniProtKB/Swiss-Prot
PharmGKB PA35715 PharmGKB
PROSITE C_TYPE_LECTIN_1 UniProtKB/Swiss-Prot
  C_TYPE_LECTIN_2 UniProtKB/Swiss-Prot
SMART CLECT UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56436 UniProtKB/Swiss-Prot
  Triple coiled coil domain of C-type lectins UniProtKB/Swiss-Prot
UniProt G5CCM8_HUMAN UniProtKB/TrEMBL
  P35247 ENTREZGENE
  Q5T0M2_HUMAN UniProtKB/TrEMBL
  Q5T0M3 ENTREZGENE
  Q6FH08 ENTREZGENE
  Q86YK9 ENTREZGENE
  Q8TCD8 ENTREZGENE
  Q9UCJ2 ENTREZGENE
  Q9UCJ3 ENTREZGENE
  SFTPD_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5T0M3 UniProtKB/Swiss-Prot
  Q6FH08 UniProtKB/Swiss-Prot
  Q86YK9 UniProtKB/Swiss-Prot
  Q8TCD8 UniProtKB/Swiss-Prot
  Q9UCJ2 UniProtKB/Swiss-Prot
  Q9UCJ3 UniProtKB/Swiss-Prot