Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6439
Gene name Gene Name - the full gene name approved by the HGNC.	Surfactant protein B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SFTPB
Synonyms (NCBI Gene) Gene synonyms aliases	PSP-B, SFTB3, SFTP3, SMDP1, SP-B
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% p

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35328240	G>TTC	Pathogenic	Coding sequence variant, frameshift variant
rs35373464	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137853202	G>A	Pathogenic	Coding sequence variant, missense variant
rs779795223	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs1553380888	C>A	Pathogenic	Coding sequence variant, synonymous variant
rs1558572491	C>T	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant

Show/Hide all(284)

miRTarBase ID	miRNA	Experiments	Reference
MIRT716061	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT716060	hsa-miR-4281	HITS-CLIP	19536157
MIRT716059	hsa-miR-5587-5p	HITS-CLIP	19536157
MIRT716058	hsa-miR-133a-3p	HITS-CLIP	19536157
MIRT508431	hsa-miR-4418	PAR-CLIP	23446348
MIRT508430	hsa-miR-509-3-5p	PAR-CLIP	23446348
MIRT508429	hsa-miR-509-5p	PAR-CLIP	23446348
MIRT508428	hsa-miR-217	PAR-CLIP	23446348
MIRT508427	hsa-miR-6807-3p	PAR-CLIP	23446348
MIRT508426	hsa-miR-3934-5p	PAR-CLIP	23446348
MIRT508425	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT508423	hsa-miR-3176	PAR-CLIP	23446348
MIRT508424	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT514816	hsa-miR-3665	PAR-CLIP	23446348
MIRT514815	hsa-miR-657	PAR-CLIP	23446348
MIRT508422	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT508421	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT514814	hsa-miR-6511b-5p	PAR-CLIP	23446348
MIRT514813	hsa-miR-6811-5p	PAR-CLIP	23446348
MIRT508420	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT512445	hsa-miR-6835-3p	PAR-CLIP	23446348
MIRT512444	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT512443	hsa-miR-330-3p	PAR-CLIP	23446348
MIRT512442	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT512441	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT512440	hsa-miR-513c-5p	PAR-CLIP	23446348
MIRT512439	hsa-miR-514b-5p	PAR-CLIP	23446348
MIRT508431	hsa-miR-4418	PAR-CLIP	23446348
MIRT508430	hsa-miR-509-3-5p	PAR-CLIP	23446348
MIRT508429	hsa-miR-509-5p	PAR-CLIP	23446348
MIRT508428	hsa-miR-217	PAR-CLIP	23446348
MIRT508427	hsa-miR-6807-3p	PAR-CLIP	23446348
MIRT508426	hsa-miR-3934-5p	PAR-CLIP	23446348
MIRT508425	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT508423	hsa-miR-3176	PAR-CLIP	23446348
MIRT508424	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT508422	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT508421	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT508420	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT716061	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT716060	hsa-miR-4281	HITS-CLIP	19536157
MIRT716059	hsa-miR-5587-5p	HITS-CLIP	19536157
MIRT716058	hsa-miR-133a-3p	HITS-CLIP	19536157
MIRT508431	hsa-miR-4418	PAR-CLIP	23446348
MIRT508430	hsa-miR-509-3-5p	PAR-CLIP	23446348
MIRT508429	hsa-miR-509-5p	PAR-CLIP	23446348
MIRT508428	hsa-miR-217	PAR-CLIP	23446348
MIRT508427	hsa-miR-6807-3p	PAR-CLIP	23446348
MIRT508426	hsa-miR-3934-5p	PAR-CLIP	23446348
MIRT508425	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT508423	hsa-miR-3176	PAR-CLIP	23446348
MIRT508424	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT514816	hsa-miR-3665	PAR-CLIP	23446348
MIRT514815	hsa-miR-657	PAR-CLIP	23446348
MIRT508422	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT508421	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT514814	hsa-miR-6511b-5p	PAR-CLIP	23446348
MIRT514813	hsa-miR-6811-5p	PAR-CLIP	23446348
MIRT508420	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT512445	hsa-miR-6835-3p	PAR-CLIP	23446348
MIRT512444	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT512443	hsa-miR-330-3p	PAR-CLIP	23446348
MIRT512442	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT512441	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT512440	hsa-miR-513c-5p	PAR-CLIP	23446348
MIRT512439	hsa-miR-514b-5p	PAR-CLIP	23446348
MIRT508431	hsa-miR-4418	PAR-CLIP	23446348
MIRT508430	hsa-miR-509-3-5p	PAR-CLIP	23446348
MIRT508429	hsa-miR-509-5p	PAR-CLIP	23446348
MIRT508428	hsa-miR-217	PAR-CLIP	23446348
MIRT508427	hsa-miR-6807-3p	PAR-CLIP	23446348
MIRT508426	hsa-miR-3934-5p	PAR-CLIP	23446348
MIRT508425	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT508423	hsa-miR-3176	PAR-CLIP	23446348
MIRT508424	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT508422	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT508421	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT508420	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT1342139	hsa-miR-122	CLIP-seq
MIRT1342140	hsa-miR-1234	CLIP-seq
MIRT1342141	hsa-miR-1237	CLIP-seq
MIRT1342142	hsa-miR-124	CLIP-seq
MIRT1342143	hsa-miR-1248	CLIP-seq
MIRT1342144	hsa-miR-1268	CLIP-seq
MIRT1342145	hsa-miR-1268b	CLIP-seq
MIRT1342146	hsa-miR-1272	CLIP-seq
MIRT1342147	hsa-miR-1273f	CLIP-seq
MIRT1342148	hsa-miR-1273g	CLIP-seq
MIRT1342149	hsa-miR-1289	CLIP-seq
MIRT1342150	hsa-miR-1293	CLIP-seq
MIRT1342151	hsa-miR-1322	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342153	hsa-miR-135a	CLIP-seq
MIRT1342154	hsa-miR-135b	CLIP-seq
MIRT1342155	hsa-miR-143	CLIP-seq
MIRT1342156	hsa-miR-147	CLIP-seq
MIRT1342157	hsa-miR-1587	CLIP-seq
MIRT1342158	hsa-miR-1909	CLIP-seq
MIRT1342159	hsa-miR-1972	CLIP-seq
MIRT1342160	hsa-miR-1976	CLIP-seq
MIRT1342161	hsa-miR-2113	CLIP-seq
MIRT1342162	hsa-miR-2278	CLIP-seq
MIRT1342163	hsa-miR-2355-5p	CLIP-seq
MIRT1342164	hsa-miR-24	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342166	hsa-miR-3135b	CLIP-seq
MIRT1342167	hsa-miR-3136-3p	CLIP-seq
MIRT1342168	hsa-miR-3151	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT1342170	hsa-miR-3194-3p	CLIP-seq
MIRT1342171	hsa-miR-3198	CLIP-seq
MIRT1342172	hsa-miR-3201	CLIP-seq
MIRT1342173	hsa-miR-320a	CLIP-seq
MIRT1342174	hsa-miR-320b	CLIP-seq
MIRT1342175	hsa-miR-320c	CLIP-seq
MIRT1342176	hsa-miR-320d	CLIP-seq
MIRT1342177	hsa-miR-335	CLIP-seq
MIRT1342178	hsa-miR-342-5p	CLIP-seq
MIRT1342179	hsa-miR-3652	CLIP-seq
MIRT1342180	hsa-miR-3653	CLIP-seq
MIRT1342181	hsa-miR-3658	CLIP-seq
MIRT1342182	hsa-miR-3660	CLIP-seq
MIRT1342183	hsa-miR-3691-5p	CLIP-seq
MIRT1342184	hsa-miR-3714	CLIP-seq
MIRT1342185	hsa-miR-383	CLIP-seq
MIRT1342186	hsa-miR-3910	CLIP-seq
MIRT1342187	hsa-miR-3977	CLIP-seq
MIRT1342188	hsa-miR-4257	CLIP-seq
MIRT1342189	hsa-miR-4271	CLIP-seq
MIRT1342190	hsa-miR-4279	CLIP-seq
MIRT1342191	hsa-miR-4294	CLIP-seq
MIRT1342192	hsa-miR-4299	CLIP-seq
MIRT1342193	hsa-miR-4303	CLIP-seq
MIRT1342194	hsa-miR-4309	CLIP-seq
MIRT1342195	hsa-miR-431	CLIP-seq
MIRT1342196	hsa-miR-4318	CLIP-seq
MIRT1342197	hsa-miR-4429	CLIP-seq
MIRT1342198	hsa-miR-4430	CLIP-seq
MIRT1342199	hsa-miR-4437	CLIP-seq
MIRT1342200	hsa-miR-4453	CLIP-seq
MIRT1342201	hsa-miR-4455	CLIP-seq
MIRT1342202	hsa-miR-4456	CLIP-seq
MIRT1342203	hsa-miR-4466	CLIP-seq
MIRT1342204	hsa-miR-4476	CLIP-seq
MIRT1342205	hsa-miR-4483	CLIP-seq
MIRT1342206	hsa-miR-4494	CLIP-seq
MIRT1342207	hsa-miR-4526	CLIP-seq
MIRT1342208	hsa-miR-4534	CLIP-seq
MIRT1342209	hsa-miR-4538	CLIP-seq
MIRT1342210	hsa-miR-4645-3p	CLIP-seq
MIRT1342211	hsa-miR-4645-5p	CLIP-seq
MIRT1342212	hsa-miR-4650-5p	CLIP-seq
MIRT1342213	hsa-miR-4651	CLIP-seq
MIRT1342214	hsa-miR-4664-5p	CLIP-seq
MIRT1342215	hsa-miR-4673	CLIP-seq
MIRT1342216	hsa-miR-4674	CLIP-seq
MIRT1342217	hsa-miR-4682	CLIP-seq
MIRT1342218	hsa-miR-4690-5p	CLIP-seq
MIRT1342219	hsa-miR-4708-5p	CLIP-seq
MIRT1342220	hsa-miR-4722-3p	CLIP-seq
MIRT1342221	hsa-miR-4724-3p	CLIP-seq
MIRT1342222	hsa-miR-4725-3p	CLIP-seq
MIRT1342223	hsa-miR-4752	CLIP-seq
MIRT1342224	hsa-miR-4767	CLIP-seq
MIRT1342225	hsa-miR-4770	CLIP-seq
MIRT1342226	hsa-miR-4772-5p	CLIP-seq
MIRT1342227	hsa-miR-4791	CLIP-seq
MIRT1342228	hsa-miR-4794	CLIP-seq
MIRT1342229	hsa-miR-486-3p	CLIP-seq
MIRT1342230	hsa-miR-491-5p	CLIP-seq
MIRT1342231	hsa-miR-499a-5p	CLIP-seq
MIRT1342232	hsa-miR-506	CLIP-seq
MIRT1342233	hsa-miR-5096	CLIP-seq
MIRT1342234	hsa-miR-548q	CLIP-seq
MIRT1342235	hsa-miR-555	CLIP-seq
MIRT1342236	hsa-miR-563	CLIP-seq
MIRT1342237	hsa-miR-599	CLIP-seq
MIRT1342238	hsa-miR-608	CLIP-seq
MIRT1342239	hsa-miR-609	CLIP-seq
MIRT1342240	hsa-miR-622	CLIP-seq
MIRT1342241	hsa-miR-635	CLIP-seq
MIRT1342242	hsa-miR-675	CLIP-seq
MIRT1342243	hsa-miR-760	CLIP-seq
MIRT1342244	hsa-miR-873	CLIP-seq
MIRT1342245	hsa-miR-892b	CLIP-seq
MIRT1342246	hsa-miR-924	CLIP-seq
MIRT1342247	hsa-miR-935	CLIP-seq
MIRT1342248	hsa-miR-940	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT2101273	hsa-miR-129-5p	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342168	hsa-miR-3151	CLIP-seq
MIRT2101274	hsa-miR-3165	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT2101275	hsa-miR-3614-5p	CLIP-seq
MIRT2101276	hsa-miR-4715-3p	CLIP-seq
MIRT2101277	hsa-miR-4735-5p	CLIP-seq
MIRT2101278	hsa-miR-4775	CLIP-seq
MIRT1342229	hsa-miR-486-3p	CLIP-seq
MIRT2101279	hsa-miR-590-3p	CLIP-seq
MIRT1342244	hsa-miR-873	CLIP-seq
MIRT1342247	hsa-miR-935	CLIP-seq
MIRT1342139	hsa-miR-122	CLIP-seq
MIRT2325682	hsa-miR-1307	CLIP-seq
MIRT2325683	hsa-miR-197	CLIP-seq
MIRT1342166	hsa-miR-3135b	CLIP-seq
MIRT1342168	hsa-miR-3151	CLIP-seq
MIRT2325684	hsa-miR-3168	CLIP-seq
MIRT2325685	hsa-miR-3170	CLIP-seq
MIRT1342170	hsa-miR-3194-3p	CLIP-seq
MIRT2101275	hsa-miR-3614-5p	CLIP-seq
MIRT1342179	hsa-miR-3652	CLIP-seq
MIRT2325686	hsa-miR-4284	CLIP-seq
MIRT1342198	hsa-miR-4430	CLIP-seq
MIRT2325687	hsa-miR-4638-5p	CLIP-seq
MIRT2101276	hsa-miR-4715-3p	CLIP-seq
MIRT2325688	hsa-miR-4716-5p	CLIP-seq
MIRT2101277	hsa-miR-4735-5p	CLIP-seq
MIRT2101278	hsa-miR-4775	CLIP-seq
MIRT2325689	hsa-miR-4781-3p	CLIP-seq
MIRT1342233	hsa-miR-5096	CLIP-seq
MIRT2101279	hsa-miR-590-3p	CLIP-seq
MIRT1342247	hsa-miR-935	CLIP-seq
MIRT2101273	hsa-miR-129-5p	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342159	hsa-miR-1972	CLIP-seq
MIRT1342161	hsa-miR-2113	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT2101275	hsa-miR-3614-5p	CLIP-seq
MIRT1342183	hsa-miR-3691-5p	CLIP-seq
MIRT1342187	hsa-miR-3977	CLIP-seq
MIRT1342212	hsa-miR-4650-5p	CLIP-seq
MIRT2101276	hsa-miR-4715-3p	CLIP-seq
MIRT2101277	hsa-miR-4735-5p	CLIP-seq
MIRT1342223	hsa-miR-4752	CLIP-seq
MIRT2101278	hsa-miR-4775	CLIP-seq
MIRT2101279	hsa-miR-590-3p	CLIP-seq
MIRT1342139	hsa-miR-122	CLIP-seq
MIRT2101273	hsa-miR-129-5p	CLIP-seq
MIRT2325682	hsa-miR-1307	CLIP-seq
MIRT1342166	hsa-miR-3135b	CLIP-seq
MIRT2101275	hsa-miR-3614-5p	CLIP-seq
MIRT1342179	hsa-miR-3652	CLIP-seq
MIRT2325686	hsa-miR-4284	CLIP-seq
MIRT1342198	hsa-miR-4430	CLIP-seq
MIRT2325687	hsa-miR-4638-5p	CLIP-seq
MIRT2101276	hsa-miR-4715-3p	CLIP-seq
MIRT2101277	hsa-miR-4735-5p	CLIP-seq
MIRT2621365	hsa-miR-4772-3p	CLIP-seq
MIRT2101278	hsa-miR-4775	CLIP-seq
MIRT2101279	hsa-miR-590-3p	CLIP-seq
MIRT2690559	hsa-miR-1207-3p	CLIP-seq
MIRT1342139	hsa-miR-122	CLIP-seq
MIRT2325682	hsa-miR-1307	CLIP-seq
MIRT2690560	hsa-miR-1343	CLIP-seq
MIRT1342157	hsa-miR-1587	CLIP-seq
MIRT1342166	hsa-miR-3135b	CLIP-seq
MIRT1342179	hsa-miR-3652	CLIP-seq
MIRT2690561	hsa-miR-378g	CLIP-seq
MIRT2690562	hsa-miR-4270	CLIP-seq
MIRT2325686	hsa-miR-4284	CLIP-seq
MIRT1342198	hsa-miR-4430	CLIP-seq
MIRT2690563	hsa-miR-4441	CLIP-seq
MIRT2690564	hsa-miR-4492	CLIP-seq
MIRT2690565	hsa-miR-4498	CLIP-seq
MIRT2325687	hsa-miR-4638-5p	CLIP-seq
MIRT2690566	hsa-miR-4640-5p	CLIP-seq
MIRT2690567	hsa-miR-4656	CLIP-seq
MIRT2690568	hsa-miR-4675	CLIP-seq
MIRT2690569	hsa-miR-4726-5p	CLIP-seq
MIRT2690570	hsa-miR-4741	CLIP-seq
MIRT2621365	hsa-miR-4772-3p	CLIP-seq
MIRT2690571	hsa-miR-762	CLIP-seq
MIRT2690572	hsa-miR-885-3p	CLIP-seq

Transcription factors

Show/Hide all(7)

Transcription factor	Regulation	Reference
FOXA1	Activation	18003659
FOXM1	Activation	12161428
MYBBP1A	Unknown	11274148
NF1	Unknown	7580940
NKX2-1	Activation	12161428;18003659;8065304
NKX2-1	Unknown	11274148
RARA	Unknown	10070102

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005771	Component	Multivesicular body	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	TAS	10378403
GO:0009887	Process	Animal organ morphogenesis	TAS	10378403
GO:0042599	Component	Lamellar body	TAS
GO:0045334	Component	Clathrin-coated endocytic vesicle	TAS
GO:0097208	Component	Alveolar lamellar body	IBA
GO:0097486	Component	Multivesicular body lumen	TAS

MIM	HGNC	e!Ensembl
178640	10801	ENSG00000168878

Protein

UniProt ID

P07988

Protein name

Pulmonary surfactant-associated protein B (SP-B) (18 kDa pulmonary-surfactant protein) (6 kDa protein) (Pulmonary surfactant-associated proteolipid SPL(Phe))

Protein function

Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per met

PDB

1DFW , 1KMR , 1RG3 , 1RG4 , 1SSZ , 2DWF , 2JOU , 2M0H , 2M1T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02199	SapA	30 → 61	Saposin A-type domain	Family
PF05184	SapB_1	67 → 104	Saposin-like type B, region 1	Domain
PF03489	SapB_2	110 → 143	Saposin-like type B, region 2	Family
PF03489	SapB_2	333 → 366	Saposin-like type B, region 2	Family

Sequence

MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVW
GHVGADDLCQECEDIVHILNKMAKEAIFQDTMRKFLEQECNVLPLKLLMPQCNQVLDDYF
PLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQDLSEQQFPIPLPYCWLCRALIKRIQAMIPKGALAVAVAQVCRVVPL
VAGGICQCLAERYSVILLDTLLGRMLPQLVCRLVLRCSMDDSAGPRSPTGEWLPRDSECH
LCMSVTTQAGNSSEQAIPQAMLQACVGSWLDREKCKQFVEQHTPQLLTLVPRGWDAHTTC
QALGVCGTMSSPLQCIHSPDL

Sequence length

381

Interactions

View interactions

	Reactome
			Surfactant metabolism Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hereditary Pulmonary Alveolar Proteinosis	hereditary pulmonary alveolar proteinosis	rs35328240	N/A
Surfactant Metabolism Dysfunction, Pulmonary	surfactant metabolism dysfunction, pulmonary, 1	rs35328240, rs1553380888, rs1558572491, rs779795223	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Lung adenocarcinoma	Lung adenocarcinoma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (60)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Lung Injury	Associate	18950526
Adenocarcinoma Bronchiolo Alveolar	Associate	26439040
Adenocarcinoma of Lung	Associate	27322500, 35689561, 38001428
Alveolar capillary dysplasia	Associate	10493923
Alveolitis Extrinsic Allergic	Associate	35720392
Apraxia oculomotor Cogan type	Associate	37890668
Autoimmune Diseases	Associate	24098648
Bronchopulmonary Dysplasia	Associate	10493923, 17264398, 23771654, 26045806
Carcinoma Large Cell	Associate	27322500
Carcinoma Non Small Cell Lung	Associate	12107845, 36203529
Carcinoma Squamous Cell	Associate	12107845
Central Nervous System Infections	Associate	24098648
Cerebral Infarction	Associate	24098648
Congenital Deficiency of Pulmonary Surfactant Protein B	Inhibit	29624232
Congenital Deficiency of Pulmonary Surfactant Protein B	Associate	29624232, 37455866, 8163685
COVID 19	Associate	34286505, 34802985, 36460583
Cystic Fibrosis	Associate	30333828
Death	Associate	18679120
Developmental Disabilities	Associate	37890668
Drug Related Side Effects and Adverse Reactions	Associate	30679658
Elliptocytosis Hereditary	Associate	1498324
Gastritis	Associate	37962678
Genetic Diseases Inborn	Associate	8872090
Hemorrhage	Associate	35905206
Hepatitis B	Associate	19647838
Hypophosphatasia	Associate	10493923
Idiopathic Pulmonary Fibrosis	Associate	35720392
Immunologic Deficiency Syndromes	Associate	30075031
Infant Newborn Diseases	Associate	8163685
Infections	Associate	17498296
Inflammation	Associate	16971405, 19353349
Kidney Failure Chronic	Associate	22282592
Lung Diseases	Associate	12908879, 15976379, 16042774, 17660803, 21867529, 27337142, 28620154, 7832777
Lung Diseases Interstitial	Associate	16361824, 35438610, 37380697
Lung Neoplasms	Associate	12107845, 22509983, 23897585, 24377567
Lung Neoplasms	Inhibit	37679517
Neoplasm Metastasis	Associate	38433022
Neoplasms	Associate	24377567
Neoplasms	Inhibit	36203529
Pediatric Obesity	Associate	29255193
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	37890668
Pneumonia	Associate	26107393
Primary Graft Dysfunction	Associate	28620154
Prostatic Neoplasms	Associate	38433022
Pulmonary Alveolar Proteinosis	Associate	24859540, 8163685
Pulmonary alveolar proteinosis congenital	Associate	10493923
Pulmonary Disease Chronic Obstructive	Associate	11589345, 12515908, 15817713, 16456143, 16971405, 18550614, 20693256
Pulmonary Fibrosis	Associate	37380697
Respiratory Distress Syndrome	Associate	10191270, 10493923, 11737731, 17581675, 18317237, 18679120, 18776725, 20693312, 21180884, 26061924, 27835691, 28011976, 29255193, 29624232, 36460583, 7832777, 8872090 View all (2 more)
Respiratory Distress Syndrome	Inhibit	20418387
Respiratory Distress Syndrome In Premature Infants	Associate	29255193
Respiratory Distress Syndrome Newborn	Associate	17597650, 18776725, 23330012
Respiratory Insufficiency	Associate	12515908, 13129928, 19647838, 30075031
Respiratory Sounds	Associate	38225283
Respiratory Syncytial Virus Infections	Associate	17498296
Respiratory Tract Diseases	Associate	8163685
Small Cell Lung Carcinoma	Associate	12107845
Surfactant Dysfunction	Associate	18317237, 19647838, 29255193
Thyroid Cancer Papillary	Associate	11752453
Uniparental Disomy	Associate	19647838

SFTPB (surfactant protein B)