Hs02431139_cn

• Gene Symbol: MCFD2
• Assay Reference Genome Location: Chr.2:46902598 on build GRCh38
• Cytoband: 2p21

Target Gene Details

• Entrez Gene ID: 90411
• Gene Name: multiple coagulation factor deficiency 2
• Gene Aliases: F5F8D, F5F8D2, LMAN1IP, SDNSF
• Location: Chr.2:46901870-46941855 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCFD2	NM_001171506.2	5	3552	NP_001164977.1
	NM_001171507.2	4	3444	NP_001164978.1
	NM_001171508.2	4	3596	NP_001164979.1
	NM_001171509.2	3	3303	NP_001164980.1
	NM_001171510.2	3	3289	NP_001164981.1
	NM_001171511.2	3	3441	NP_001164982.1
	NM_139279.5	4	3458	NP_644808.1
	AF537214.1	4	3395	AAP23162.1
	AK095006.1	1	2165
	AL833900.1	4	3393	CAD38756.1
	BC037845.1	3	3201	AAH37845.1
	BC040357.2	4	3384	AAH40357.1
	CR749562.1	3	3246	CAH18359.1
	M23161.1	2	3127

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1004828	Chr.2:46829710 - 47587343 on Build GRCh38	Gain	LOC101927043 HCG2040054 MSH2 CALM2 MCFD2 TTC7A KCNK12 C2orf61 LINC01119 BCYRN1 MIR559 EPCAM
nsv581749	Chr.2:46777649 - 47098834 on Build GRCh38	Loss	LINC01118 MCFD2 TTC7A C2orf61 LINC01119 LOC105374587

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

ER to Golgi vesicle-mediated transport
protein transport
protein N-linked glycosylation via asparagine
COPII vesicle coating

Function(s)

calcium ion binding