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mutLBSgeneDB |
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| Gene summary for SFTPD |
 Gene summary |
| Basic gene Info. | Gene symbol | SFTPD |
| Gene name | surfactant protein D | |
| Synonyms | COLEC7|PSP-D|SFTP4|SP-D | |
| Cytomap | UCSC genome browser: 10q22.2-q23.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003019.4, | |
| Description | collectin 7collectin-7lung surfactant protein Dpulmonary surfactant apoproteinpulmonary surfactant-associated protein Dsurfactant, pulmonary-associated protein Dsurfactant-associated protein, pulmonary 4 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 178635 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000133661 | ||
| HPRD : 01522 | ||
| Vega : OTTHUMG00000018590 | ||
| Protein | UniProt: P35247 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SFTPD | |
| BioGPS: 6441 | ||
| Pathway | NCI Pathway Interaction Database: SFTPD | |
| KEGG: SFTPD | ||
| REACTOME: SFTPD | ||
| Pathway Commons: SFTPD | ||
| Context | iHOP: SFTPD | |
| ligand binding site mutation search in PubMed: SFTPD | ||
| UCL Cancer Institute: SFTPD | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for SFTPD |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F324 | Y326H | COAD | 1 | K266 | K266N | COAD | 1 | E252 | K250T | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for SFTPD |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | F324 | Y326H | -1.0812264 | K266 | K266N | -0.97416871 | E252 | K250T | -0.63804184 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for SFTPD from PDB |
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| Differential gene expression and gene-gene network for SFTPD |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for SFTPD |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0024121 | Lung Neoplasms | 4 | AlteredExpression, Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SFTPD |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB02379 | Beta-D-Glucose | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SFTPD go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of SFTPD |
| Multiple alignments for P35247 in multiple species |
| LBS | AA sequence | # species | Species | D317 | FLSMTDVGTEG | 2 | Mus musculus, Rattus norvegicus | D317 | FLSMTDSKTEG | 1 | Homo sapiens | D317 | FLSMSDTRKEG | 1 | Bos taurus | D317 | FLSMNDISTEG | 1 | Bos taurus | D317 | YLSMNDISTEG | 1 | Bos taurus | D317 | FLSMTDSKMEG | 1 | Macaca mulatta | D344 | PGEPNDD--GG | 2 | Homo sapiens, Macaca mulatta | D344 | PGEPNNN--GG | 2 | Mus musculus, Rattus norvegicus | D344 | PQEPNND--GG | 1 | Bos taurus | D344 | SGEPNNNNAGQ | 1 | Bos taurus | D344 | DGEPNNSDEGQ | 1 | Bos taurus | D345 | GEPNDD--GGS | 2 | Homo sapiens, Macaca mulatta | D345 | GEPNNN--GGA | 2 | Mus musculus, Rattus norvegicus | D345 | QEPNND--GGS | 1 | Bos taurus | D345 | GEPNNNNAGQP | 1 | Bos taurus | D345 | GEPNNSDEGQP | 1 | Bos taurus | D350 | -GGSEDCVEIF | 2 | Homo sapiens, Macaca mulatta | D350 | -GGAENCVEIF | 2 | Mus musculus, Rattus norvegicus | D350 | -GGSENCVEIF | 1 | Bos taurus | D350 | AGQPENCVQIY | 1 | Bos taurus | D350 | EGQPENCVEIF | 1 | Bos taurus | D362 | NGKWNDRACGE | 2 | Homo sapiens, Macaca mulatta | D362 | NGQWNDKACGE | 2 | Mus musculus, Rattus norvegicus | D362 | NGKWNDKVCGE | 1 | Bos taurus | D362 | EGKWNDVPCSE | 1 | Bos taurus | D362 | DGKWNDVPCSK | 1 | Bos taurus | E252 | QYKKVELFPNG | 2 | Homo sapiens, Macaca mulatta | E252 | QYKKAMLFPNG | 1 | Bos taurus | E252 | RYKKAVLFPDG | 1 | Bos taurus | E252 | QYKKAVLFPDG | 1 | Bos taurus | E252 | HYQKAALFPDG | 1 | Mus musculus | E252 | RYKKAALFPDG | 1 | Rattus norvegicus | E321 | TDVGTEGKFTY | 2 | Mus musculus, Rattus norvegicus | E321 | TDSKTEGKFTY | 1 | Homo sapiens | E321 | SDTRKEGTFIY | 1 | Bos taurus | E321 | NDISTEGKFTY | 1 | Bos taurus | E321 | NDISTEGRFTY | 1 | Bos taurus | E321 | TDSKMEGKFTY | 1 | Macaca mulatta | E341 | NWAPGEPNDD- | 2 | Homo sapiens, Macaca mulatta | E341 | NWAPGEPNNN- | 2 | Mus musculus, Rattus norvegicus | E341 | NWAPQEPNND- | 1 | Bos taurus | E341 | NWASGEPNNNN | 1 | Bos taurus | E341 | NWADGEPNNSD | 1 | Bos taurus | E349 | --GGSEDCVEI | 2 | Homo sapiens, Macaca mulatta | E349 | --GGAENCVEI | 2 | Mus musculus, Rattus norvegicus | E349 | --GGSENCVEI | 1 | Bos taurus | E349 | NAGQPENCVQI | 1 | Bos taurus | E349 | DEGQPENCVEI | 1 | Bos taurus | E353 | SEDCVEIFTNG | 2 | Homo sapiens, Macaca mulatta | E353 | AENCVEIFTNG | 2 | Mus musculus, Rattus norvegicus | E353 | SENCVEIFPNG | 1 | Bos taurus | E353 | PENCVQIYREG | 1 | Bos taurus | E353 | PENCVEIFPDG | 1 | Bos taurus | E367 | DRACGEKRLVV | 2 | Homo sapiens, Macaca mulatta | E367 | DKACGEQRLVI | 2 | Mus musculus, Rattus norvegicus | E367 | DKVCGEQRLVI | 1 | Bos taurus | E367 | DVPCSEPLLVI | 1 | Bos taurus | E367 | DVPCSKQLLVI | 1 | Bos taurus | F324 | GTEGKFTYPTG | 2 | Mus musculus, Rattus norvegicus | F324 | KTEGKFTYPTG | 1 | Homo sapiens | F324 | RKEGTFIYPTG | 1 | Bos taurus | F324 | STEGKFTYPTG | 1 | Bos taurus | F324 | STEGRFTYPTG | 1 | Bos taurus | F324 | KMEGKFTYPTG | 1 | Macaca mulatta | F355 | DCVEIFTNGKW | 2 | Homo sapiens, Macaca mulatta | F355 | NCVEIFTNGQW | 2 | Mus musculus, Rattus norvegicus | F355 | NCVEIFPNGKW | 1 | Bos taurus | F355 | NCVQIYREGKW | 1 | Bos taurus | F355 | NCVEIFPDGKW | 1 | Bos taurus | K266 | GEKIFKTAGFV | 2 | Homo sapiens, Macaca mulatta | K266 | GEKIFKTEGSE | 1 | Bos taurus | K266 | GKKIFKTAGAV | 1 | Bos taurus | K266 | GEKIFKTAGAV | 1 | Bos taurus | K266 | GDKIFRTADSE | 1 | Mus musculus | K266 | GDKIFRAANSE | 1 | Rattus norvegicus | N343 | APGEPNDD--G | 2 | Homo sapiens, Macaca mulatta | N343 | APGEPNNN--G | 2 | Mus musculus, Rattus norvegicus | N343 | APQEPNND--G | 1 | Bos taurus | N343 | ASGEPNNNNAG | 1 | Bos taurus | N343 | ADGEPNNSDEG | 1 | Bos taurus | N357 | VEIFTNGKWND | 2 | Homo sapiens, Macaca mulatta | N357 | VEIFTNGQWND | 2 | Mus musculus, Rattus norvegicus | N357 | VEIFPNGKWND | 1 | Bos taurus | N357 | VQIYREGKWND | 1 | Bos taurus | N357 | VEIFPDGKWND | 1 | Bos taurus | N361 | TNGKWNDRACG | 2 | Homo sapiens, Macaca mulatta | N361 | TNGQWNDKACG | 2 | Mus musculus, Rattus norvegicus | N361 | PNGKWNDKVCG | 1 | Bos taurus | N361 | REGKWNDVPCS | 1 | Bos taurus | N361 | PDGKWNDVPCS | 1 | Bos taurus | R363 | GKWNDRACGEK | 2 | Homo sapiens, Macaca mulatta | R363 | GQWNDKACGEQ | 2 | Mus musculus, Rattus norvegicus | R363 | GKWNDKVCGEQ | 1 | Bos taurus | R363 | GKWNDVPCSEP | 1 | Bos taurus | R363 | GKWNDVPCSKQ | 1 | Bos taurus | R369 | ACGEKRLVVCE | 2 | Homo sapiens, Macaca mulatta | R369 | ACGEQRLVICE | 2 | Mus musculus, Rattus norvegicus | R369 | VCGEQRLVICE | 1 | Bos taurus | R369 | PCSEPLLVICE | 1 | Bos taurus | R369 | PCSKQLLVICE | 1 | Bos taurus | T356 | CVEIFTNGKWN | 2 | Homo sapiens, Macaca mulatta | T356 | CVEIFTNGQWN | 2 | Mus musculus, Rattus norvegicus | T356 | CVEIFPNGKWN | 1 | Bos taurus | T356 | CVQIYREGKWN | 1 | Bos taurus | T356 | CVEIFPDGKWN | 1 | Bos taurus |
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