full name
surfactant protein C

synonyms
BRICD6, PSP-C, SFTP2, SMDP2, SP-C, SFTPC, ENSG00000168484

HGNC
HGNC:10802

Entrez Gene
Gene:6440

ENSEMBL
ENSG00000168484

location
chr: 8
start: 22014853
stop: 22021992
strand: +

OMIM
OMIM:178620: SFTPC (Autosomal dominant inheritance,Heterogeneous)
OMIM:610913: Surfactant metabolism dysfunction, pulmonary, 2

transcripts
NM_003018.3
NM_001172410.1
NM_001172357.1

pathways
ABC transporter disorders [NCBI:1268933] [REACTOME:R-HSA-5619084] [PUBMED:21740521] [PUBMED:16399363] [PUBMED:23415156] [PUBMED:21389634] [PUBMED:21488864] [PUBMED:21554546]
Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3) [NCBI:1339131] [REACTOME:R-HSA-5683678] [PUBMED:15044640] [PUBMED:23415156] [PUBMED:21967062] [PUBMED:25621661]
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) [NCBI:1309214] [REACTOME:R-HSA-5688890] [PUBMED:25621661]
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) [NCBI:1309215] [REACTOME:R-HSA-5688849] [PUBMED:25621661] [PUBMED:19666756]
Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS) [NCBI:1309212] [REACTOME:R-HSA-5688354] [PUBMED:15778495] [PUBMED:11991887] [PUBMED:23701443] [PUBMED:25621661]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases associated with surfactant metabolism [NCBI:1309208] [REACTOME:R-HSA-5687613] [PUBMED:25621661]
Diseases of metabolism [NCBI:1268939] [REACTOME:R-HSA-5668914]
Disorders of transmembrane transporters [NCBI:1268932] [REACTOME:R-HSA-5619115] [PUBMED:16399363]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Surfactant metabolism [NCBI:1309223] [REACTOME:R-HSA-5683826] [PUBMED:20551227] [PUBMED:23026158] [PUBMED:24868212] [PUBMED:23736009] [PUBMED:16423266] [PUBMED:23441475] [PUBMED:19824815] [PUBMED:8162991] [PUBMED:16580255] [PUBMED:19037882]