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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SFTPC Gene

protein-coding GIFtS: 55
GCID: GC08P022019

surfactant protein C

(Previous names: surfactant, pulmonary-associated protein C )
(Previous symbol: SFTP2)

Explore 44 diseases affiliated with
SFTPC via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Surfactant Protein C¹ ²		Pulmonary Surfactant-Associated Proteolipid SPL(Val)² ³
SFTP2¹ ² ³ ⁵		SP5² ³
SP-C¹ ² ³		Surfactant, Pulmonary-Associated Protein C¹
SMDP2¹ ² ⁵		BRICHOS Domain Containing 6²
BRICD6¹ ²		Pulmonary Surfactant Apoprotein-2 SP-C²
PSP-C¹ ²		Pulmonary Surfactant-Associated Protein C²

External Ids:	HGNC: 10802¹	Entrez Gene: 6440²	Ensembl: ENSG00000168484⁷	OMIM: 178620⁵	UniProtKB: P11686³

Export aliases for SFTPC gene to outside databases

Previous GC identifers: GC08P021778 GC08P022368 GC08P021836 GC08P022041 GC08P022072 GC08P022075 GC08P020561

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SFTPC:

This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein

essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex

composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The

surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing

the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause

pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant

protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults.

Alternatively spliced transcript variants encoding different protein isoforms have been identified.(provided by

RefSeq, Feb 2010)

UniProtKB/Swiss-Prot: PSPC_HUMAN, P11686

Function: Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the

air-liquid interface in the peripheral air spaces

Gene Wiki entry for SFTPC (Pulmonary surfactant-associated protein C)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_167187.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SFTPC gene promoter:
CREB Sp1 p53 deltaCREB ATF-2 C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SFTPC promoter sequence

Search SABiosciences Chromatin IP Primers for SFTPC

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFTPC

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21 Ensembl cytogenetic band: 8p21.3 HGNC cytogenetic band: 8p21

SFTPC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFTPC gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P022019: view genomic region (about GC identifiers)

Start:	22,014,426 bp from pter	End:	22,021,992 bp from pter
Size:	7,567 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PSPC_HUMAN, P11686 (See protein sequence)

Recommended Name: Pulmonary surfactant-associated protein C precursor

Size: 197 amino acids; 21053 Da

Subcellular location: Secreted, extracellular space, surface film

Miscellaneous: Pulmonary surfactant consists of 90% lipid and 10% protein. There are 4 surfactant-associated proteins:

2 collagenous, carbohydrate-binding glycoproteins (SP-A and SP-D) and 2 small hydrophobic proteins (SP-B and SP-C)

1 PDB 3D structure from and Proteopedia for SFTPC:

2YAD (3D)

Secondary accessions: A6XNE4 B2RE00 P11687 Q12793 Q7Z5D0

Alternative splicing: 2 isoforms: P11686-1 P11686-2

Explore the universe of human proteins at neXtProt for SFTPC: NX_P11686

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P11686

SFTPC Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001165828.1 NP_001165881.1 NP_003009.2

ENSEMBL proteins:

ENSP00000316152 ENSP00000430410 ENSP00000407931 ENSP00000430266 ENSP00000429496

ENSP00000429552 ENSP00000429619 ENSP00000428817

Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SFTPC

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	--	--
GO:0005615	extracellular space	IEA	--
GO:0005737	cytoplasm	--	--
GO:0005771	multivesicular body	IEA	--
GO:0042599	lamellar body	--	--

SFTPC for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SFTPC

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SFTPC for domains About GeneDecksing

4 InterPro domains/families:

IPR001729 Pulm_surfact_AP

IPR015091 Surfactant_protein_propep

IPR018051 SP-C_palmitoylation_site

IPR007084 BRICHOS_dom

Graphical View of Domain Structure for InterPro Entry P11686

ProtoNet protein and cluster: P11686

2 Blocks protein families:

IPB007084 BRICHOS domain

IPB011560 Surfactant-associated polypeptide/chondromodulin-I precursor

UniProtKB/Swiss-Prot: PSPC_HUMAN, P11686

Similarity: Contains 1 BRICHOS domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PSPC_HUMAN, P11686

Function: Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the

air-liquid interface in the peripheral air spaces

Genatlas biochemistry entry for SFTPC:

surfactant-associated glycoprotein c,pulmonary 2 (5-8kDa),alternatively spliced

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		hsa-miR-3667-5p hsa-miR-1178 hsa-miR-3611
		SwitchGear 3'UTR luciferase reporter plasmid: SFTPC 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPC

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	19815549
GO:0042803	protein homodimerization activity	IEA	--

SFTPC for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Sftpc^tm1Swg for SFTPC
     10 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Sftpc):

behavior/neurological	cardiovascular system	growth/size	immune system	mortality/aging
no phenotypic analysis	reproductive system	respiratory system	tumorigenesis	vision/eye

SFTPC for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SFTPC

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5 Interacting proteins for SFTPC (P11686³ ENSP00000316152⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
WWP2	O00308³, ENSP00000348283⁴	I2D: score=1 STRING: ENSP00000348283
NEDD4	P46934³, ENSP00000345530⁴	I2D: score=1 STRING: ENSP00000345530
PQBP1	O60828³, ENSP00000365747⁴	I2D: score=1 STRING: ENSP00000365747
WWP1	Q9H0M0³, ENSP00000265428⁴	I2D: score=1 STRING: ENSP00000265428
NEDD4L	ENSP00000383199⁴	STRING: ENSP00000383199

About this table

Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007585	respiratory gaseous exchange	IEA	--
GO:0007623	circadian rhythm	IEA	--
GO:0009725	response to hormone stimulus	--	--
GO:0009749	response to glucose stimulus	IEA	--
GO:0010033	response to organic substance	--	--

SFTPC for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SFTPC for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SFTPC
10/49 Novoseek chemical compound relationships for SFTPC gene (see all 49) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dppg	86.7	36	7794949 (3), 11423403 (2), 10866961 (2), 1616924 (2) (see all 16)
survanta	83.6	9	11420417 (3), 7626919 (1), 9436178 (1), 2011428 (1) (see all 5)
dppc	81.7	39	10821681 (3), 7794949 (2), 1616924 (2), 10866961 (2) (see all 27)
popg	70.6	13	11423403 (2), 11404266 (2), 19464999 (1), 18390619 (1) (see all 6)
phospholipid	68.8	48	14514353 (3), 18339301 (3), 19917227 (2), 8695661 (2) (see all 32)
infasurf	65.9	1	16019988 (1)
curosurf	63.7	4	11420417 (3), 18175392 (1)
phosphatidylcholine	58.2	9	12030716 (2), 9352640 (1), 18390619 (1), 11434447 (1) (see all 7)
lipid	53.2	80	10825440 (3), 1390835 (3), 8913491 (3), 8996637 (3) (see all 47)
1,2-dipalmitoyl-sn-glycero-3-phosphocholine	47.4	2	8599660 (1), 19399006 (1)

Search CenterWatch for drugs/clinical trials and news about SFTPC / PSPC

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SFTPC gene (3 alternative transcripts):

NM_001172357.1 NM_001172410.1 NM_003018.3

Unigene Cluster for SFTPC:

Surfactant protein C

Hs.1074 [show with all ESTs]

Unigene Representative Sequence: AK058094

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000522880 ENST00000524350 ENST00000524318(uc003xaw.4) ENST00000318561(uc011kza.1 uc003xax.4 uc003xay.4)

ENST00000521315(uc003xaz.3) ENST00000437090 ENST00000520605 ENST00000522109

ENST00000524255 ENST00000523296 ENST00000518615 ENST00000522630

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		hsa-miR-3667-5p hsa-miR-1178 hsa-miR-3611
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Additional cDNA sequence:

AK058094.1 AK298119.1 AK315742.1 BC005913.1 BC105594.1 DQ884411.1 J03517.1 J03553.1

23 DOTS entries:

DT.449581 DT.95174346 DT.97864558 DT.100059600 DT.95174323 DT.92456661 DT.100643043 DT.92456671

DT.97864561 DT.120643051 DT.92456643 DT.91643594 DT.95174343 DT.100639993 DT.92456642 DT.120643063

DT.92456638 DT.92456672 DT.95174317 DT.95174336 DT.97864596 DT.95081761 DT.95174344

24/808 AceView cDNA sequences (see all 808):

BQ029521 BI770662 BG548454 BM993945 BG542913 BM990918 BG570208 CA436279

BG540006 BQ029122 BM992501 AW268695 BQ030380 BG535608 CA435545 CA439088

AA317183 BM992624 BM991211 BM992643 BM992909 BQ027183 BM992540 CA442659

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SFTPC (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4a	·	4b	^	5	^	6a	·	6b	·	6c	·	6d	·	6e	^	7a	·	7b	·	7c
SP1:							-		-												-		-		-
SP2:																							-		-
SP3:																	-						-		-
SP4:							-		-								-		-		-		-		-
SP5:																	-				-		-		-

ECgene alternative splicing isoforms for SFTPC

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SFTPC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCGTGAGCA

About this image

SFTPC expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Alveoli

Alveolar Epithelial Type 2 Cells

Selective marker (cell-identifying gene)

Lung

Lung Bud

Lung Bud Progenitor Cells

Lung

Eye

Inner Nuclear Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

Lung Epithelial Progenitors (Efficient derivation...)

Lung

Lung epithelial-like cells (Derivation of lung e...)

Type II pneumocytes (airway epithelial cells) (Derivation of lung s...)

Early proximal lung progenitors (Directed differentia...)

Alveolar type II cells (Derivation of mature...)

Lung

See SFTPC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SFTPC

SOURCE GeneReport for Unigene cluster: Hs.1074

SABiosciences Expression via Pathway-Focused PCR Arrays including SFTPC:

Lung Cancer in human mouse rat

Terminal Differentiation Markers in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFTPC

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for SFTPC gene from 3/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Sftpc^{1 , 5}	surfactant associated protein C^{1, 5}	82.02(n)¹ 82.2(a)¹		14 (36.32 cM)⁵ 20389¹ NM_011359.2¹ NP_035489.2¹ 70520941⁵
lizard (Anolis carolinensis)	Reptilia	-- --	--	40(a) 37(a)	many → 1 many → 1	GL343608.1(423756-430974) GL343608.1(405868-409351)
African clawed frog (Xenopus laevis)	Amphibia	Xl.23810²	Xenopus laevis transcribed sequence with strong similarity more	74.87(n)		BG513269.1

ENSEMBL Gene Tree for SFTPC (if available)
TreeFam Gene Tree for SFTPC (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121917834^1,2	C	pathogenic	20562913(+)	`GAGCAC/TTGGGG`	6	T I	mis¹		0	--	--	--	--
rs34957318^1,2	C,	pathogenic	20563764(-)	`CATCTC/TGCCCC`	6	Q R	mis¹		2		NA	78
rs121917835^1,2	C	pathogenic	20563827(+)	`CACCCA/TGTGTG`	6	Q L	mis¹		0	--	--	--	--
rs8192336^1,2	C,F,H,	--	20559506(+)	`CCTCTC/TCCAGC`	3	--	us2k¹ trp³		7		NS NA	774
rs8192314^1,2	C,F,H	--	20559607(+)	`ACCCCG/AAGATG`	3	--	us2k¹		4		NS NA	322
rs8192315^1,2	C,F,	--	20559714(+)	`GGGGGC/TGGGAG`	3	--	us2k¹		2		NS	94
rs8192316^1,2	C,F,	--	20559802(+)	`AGGCCG/CAGCTG`	3	--	us2k¹		3		NS WA	212
rs8192317^1,2	C,	--	20559847(+)	`CACCCC/TTCCCC`	3	--	us2k¹ tfbs³ trp³		3		NS WA	212
rs78910836^1,2		--	20559943(+)	`GGGAGC/TAAACA`	3	--	us2k¹		1		NA	120
rs8192337^1,2	C,F,H,	--	20559974(+)	`CCTGCG/ACTTCT`	3	--	us2k¹		7		NS NA	620

HapMap Linkage Disequilibrium report for SFTPC (22014426 - 22021992 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for SFTPC
5 CNVs: 2746 30283 53638 3726 4586
Human Gene Mutation Database (HGMD): SFTPC

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SFTPC for disorders           About GeneDecksing

OMIM gene information: 178620
OMIM disorders: 610913
UniProtKB/Swiss-Prot: PSPC_HUMAN, P11686

Defects in SFTPC are the cause of pulmonary surfactant metabolism dysfunction type 2 (SMDP2) [MIM:610913];

also called pulmonary alveolar proteinosis due to surfactant protein C deficiency. A rare disease associated with

progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant

homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic

acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins

accumulation in the alveoli results in severe respiratory distress

Genetic variations in SFTPC are a cause of susceptibility to respiratory distress syndrome in premature

infants (RDS) [MIM:267450]; also known as RDS in prematurity. RDS is a lung disease affecting usually premature

newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high-permeability lung edema and

fibrin-rich alveolar deposits called 'hyaline membranes'

20/44 diseases for SFTPC (see all 44): About MalaCards

pulmonary surfactant metabolism dysfunction pulmonary alveolar proteinosis surfactant protein c deficiency protein c deficiency

interstitial lung disease surfactant metabolism dysfunction, pulmonary, 2 usual interstitial pneumonia nonspecific interstitial pneumonia

non-small cell lung carcinoma congenital diaphragmatic hernia idiopathic interstitial pneumonia surfactant deficiency

pulmonary fibrosis chronic obstructive pulmonary disease respiratory failure idiopathic pulmonary fibrosis

bronchopulmonary dysplasia pulmonary fibrosis, familial cystic fibrosis fibrosis

1 disease from the University of Copenhagen DISEASES database for SFTPC:

Lung disease

10/38 Novoseek disease relationships for SFTPC gene (see all 38) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lung diseases interstitial	82.5	46	15293602 (2), 20461694 (2), 15039969 (2), 19220077 (2) (see all 30)
respiratory distress syndrome	77.7	13	10191270 (1), 10825441 (1), 16631109 (1), 18197709 (1) (see all 12)
pulmonary alveolar proteinosis	74.3	9	11453699 (1), 19136726 (1), 16042774 (1), 16443648 (1) (see all 6)
lung diseases	68.3	50	19443464 (3), 14977415 (3), 16782390 (2), 17121584 (2) (see all 24)
pulmonary fibrosis	58.8	19	19747194 (4), 11991887 (2), 15516475 (2), 18037811 (1) (see all 9)
respiratory failure	58.6	4	9506635 (1), 19824815 (1), 17142157 (1)
pneumonia interstitial	56.8	21	17005585 (5), 16423270 (2), 11991887 (2), 15516475 (1) (see all 8)
bronchoalveolar lavage fluid	55	6	18039279 (1), 11850338 (1), 16042774 (1), 19747194 (1) (see all 5)
fibrosis idiopathic pulmonary	47.5	7	16738199 (2), 11991887 (1), 15516475 (1), 17005585 (1) (see all 5)
adenocarcinoma lung	44.5	1	9212243 (1)

Genetic Association Database (GAD): SFTPC
Human Genome Epidemiology (HuGE) Navigator: SFTPC (18 documents)

Export disorders for SFTPC gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SFTPC gene, integrated from 9 sources (see all 411):
(articles sorted by number of sources associating them with SFTPC)

Utopia: connect your pdf to the dynamic
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Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. (PubMed id 15039969)^{1, 2, 4, 9} Tredano M.... Bahuau M. (2004)
Surfactant protein C gene variation in the Finnish population -association with perinatal respiratory disease. (PubMed id 14735158)^{1, 2, 4, 9} Lahti M.... Hallman M. (2004)
Human surfactant protein-C: genetic homogeneity and expression in RDS; comparison with other species. (PubMed id 8181452)^{1, 2, 9} Hatzis D.... Floros J. (1994)
The pulmonary surfactant protein C (SP-C) precursor is a type II transmembrane protein. (PubMed id 1859376)^{1, 3, 9} Keller A....Schafer K.P. (1991)
Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. (PubMed id 15516475)^{1, 4, 9} Lawson W.E....du Bois R.M. (2004)
The Brichos domain-containing C-terminal part of pro-surfactant protein C binds to an unfolded poly-val transmembrane segment. (PubMed id 16709565)^{1, 3, 9} Johansson H....Johansson J. (2006)
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. (PubMed id 11991887)^{1, 2, 9} Thomas A.Q.... Loyd J.E. (2002)
Hydroxychloroquine and surfactant protein C deficiency. (PubMed id 15647591)^{1, 2, 9} Rosen D.M. and Waltz D.A. (2005)
Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. (PubMed id 15293602)^{1, 2, 9} Brasch F.... Beers M.F. (2004)
Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis. (PubMed id 13680361)^{1, 4, 9} Selman M.... Floros J. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6440	HGNC: 10802	AceView: SFTPC	Ensembl:ENSG00000168484	euGenes: HUgn6440
ECgene: SFTPC	H-InvDB: SFTPC

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SFTPC	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SFTPC
SeattleSNPs	http://pga.gs.washington.edu/data/sftpc/

Intellectual Property for SFTPC gene
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Patent Information for SFTPC gene:
Search GeneIP for patents involving SFTPC

GeneCards and IP:
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surfactant protein C

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