Hs00009186_cn

• Gene Symbol: SFTPC
• Assay Reference Genome Location: Chr.8:22162695 on build GRCh38
• Cytoband: 8p21.3

Target Gene Details

• Entrez Gene ID: 6440
• Gene Name: surfactant protein C
• Gene Aliases: BRICD6, PSP-C, SFTP2, SMDP2, SP-C
• Location: Chr.8:22161671-22164479 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SFTPC	NM_001172357.1	2	322	NP_001165828.1
	NM_001172410.1	2	322	NP_001165881.1
	NM_001317778.1	2	322	NP_001304707.1
	NM_001317779.1			NP_001304708.1
	NM_001317780.1	2	322	NP_001304709.1
	NM_003018.3	2	322	NP_003009.2
	XM_011544613.2			XP_011542915.1
	AK058094.1	5	1014
	AK298119.1	2	193
	AK315742.1	2	196
	BC005913.1	2	195	AAH05913.1
	BG535994.1	2	199
	BG569816.1	2	199
	BI490051.1
	BI524154.1	2	179
	BM993053.1
	DQ884411.1	2	164
	J03517.1	2	191	AAA36634.1
	J03553.1	2	338	AAA36631.1
	KU178329.1	2	164
	KU178330.1	2	164

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv528590	Chr.8:22034428 - 22168131 on Build GRCh38	Loss	REEP4 LGI3 BMP1 NPM2 FAM160B2 FGF17 HR DMTN SFTPC NUDT18
nsv465613	Chr.8:22046701 - 22197835 on Build GRCh38	Loss	REEP4 LGI3 BMP1 FAM160B2 FGF17 HR DMTN SFTPC NUDT18
nsv527293	Chr.8:22106867 - 22163524 on Build GRCh38	Loss	REEP4 LGI3 HR SFTPC NUDT18
nsv831263	Chr.8:22031088 - 22184413 on Build GRCh38	Loss	REEP4 LGI3 BMP1 NPM2 FAM160B2 FGF17 HR DMTN SFTPC NUDT18
dgv881n27	Chr.8:22094715 - 22163524 on Build GRCh38	Loss	REEP4 LGI3 FAM160B2 HR SFTPC NUDT18
dgv12054n54	Chr.8:22045805 - 22251098 on Build GRCh38	Loss	REEP4 POLR3D LGI3 BMP1 FAM160B2 FGF17 MIR320A PHYHIP HR DMTN SFTPC NUDT18
nsv831264	Chr.8:22093700 - 22328040 on Build GRCh38	Gain+Loss	REEP4 POLR3D LGI3 BMP1 FAM160B2 MIR320A LOC100507071 PHYHIP PIWIL2 HR SFTPC NUDT18
esv2759604	Chr.8:20675533 - 23254096 on Build GRCh38	Loss	LOC101929237 REEP4 POLR3D TNFRSF10C TNFRSF10B GFRA2 EGR3 PIWIL2 DMTN SLC39A14 SFTPC RHOBTB2 CHMP7 PDLIM2 LOC107986876 LOC107984124 C8orf58 TNFRSF10D FGF17 HR LOC286059 SORBS3 LOC389641 PPP3CC BMP1 NPM2 LOC254896 MIR320A LOC100507071 LOC286114 NUDT18 TNFRSF10A LOC102467222 PEBP4 LGI3 LOC101929172 CCAR2 FAM160B2 PHYHIP DOK2 XPO7 BIN3 BIN3-IT1
nsv610771	Chr.8:22149780 - 22200609 on Build GRCh38	Loss	LGI3 BMP1 SFTPC

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

structural protein, surfactant

Gene Ontology Categories:

Process(es)

respiratory gaseous exchange
cellular protein metabolic process

Function(s)

protein binding