full name
surfactant protein B

synonyms
PSP-B, SFTB3, SFTP3, SMDP1, SP-B, SFTPB, ENSG00000168878

HGNC
HGNC:10801

Entrez Gene
Gene:6439

ENSEMBL
ENSG00000168878

location
chr: 2
start: 85884440
stop: 85895864
strand: -

OMIM
OMIM:178640: SFTPB (Autosomal recessive inheritance,Heterogeneous)
OMIM:265120: Surfactant metabolism dysfunction, pulmonary, 1

transcripts
NM_198843.2
NM_000542.3

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-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) [NCBI:1309211] [REACTOME:R-HSA-5688031] [PUBMED:25621661] [PUBMED:7537464] [PUBMED:19220077] [PUBMED:15049696]
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]