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FLASH GENE

Symbol

SFTPC

contributors: mct - updated : 28-09-2013

HGNC name	surfactant, pulmonary-associated protein C
HGNC id	10802

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FILD familial interstitial lung disease SMDP2 surfactant metabolism dysfunction, pulmonary 2
Location	8p21.3      Physical location : 22.019.183 - 22.021.989
Synonym name	human pulmonary proteolipid SPL(pVal), 20kb
	SP5
	BRICHOS domain containing 6
	pulmonary surfactant apoprotein-2 SP-C
Synonym symbol(s)	SFTP2, SP-C, SPLV, BRICD6, PSP-C, SMDP2,

DNA

TYPE	functioning gene
STRUCTURE	7.14 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	several alternative (Glasser)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003018 6 - 989 NP_003009 - 197 Glasser - NM_001172410 6 splicing 991 NP_001165881 - 197 same expression Glasser NM_001172357 5 - 1187 NP_001165828 - 191 - -

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Respiratory lung

cells

System Cell Pubmed Species Stage Rna symbol Respiratory alveolar cell type II

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	N-terminus, situated in the cytosol
	BRICHOS domain, of approximately 100 amino acids , suggested to act as a chaperone that targets the SFTPC region of proSFTPC and prevents its aggregation while assisting its safe membrane insertion as a TM helix

conjugated

GlycoP

isoforms

Precursor

HOMOLOGY

Homologene

FAMILY

CATEGORY

immunity/defense

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,nucleus
text	integral membrane protein anchored in the membrane by the hydrophobic core of mature SFTPC

basic FUNCTION	enhancer the surface tension-lowering properties of surfactant lipides
	SFTPB, and SFTPC proteins promote the formation of proteolipid channels in which lipid molecules are functionally involved

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

inflammation

PATHWAY

metabolism

signaling

a component

component of surfactant

INTERACTION

DNA

RNA

small molecule

protein	DNAJB9, DNAJC10 promote turnover of misfolded SFTPC and this activity is dependent on their ability to stimulate HSPA5 ATPase activity
	ER lumenal domain of MKS3 interacted with a complex that included mutant SFTPC and associated chaperones, whereas the region predicted to encode the transmembrane domains of MKS3 interacted with cytosolic VCP
	role of JNK signaling in mediating SFTPC BRICHOS-induced cytokine release, and provide a link between SFTPC BRICHOS mutants and proinflammatory cytokine signaling
	functional cooperation between surfactant proteins SFTPB and SFTPC may be required to sustain a proper compression-expansion dynamics in the presence of physiological proportions of cholesterol

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FILD , SMDP2

Susceptibility

to perinatal respiratory disease and bronchopulmonary dysplasia in premature infant

Variant & Polymorphism	allele 138 ASN increasing the risk of bronchopulmonary dysplasia in premature infant

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS