Hs00251240_cn

• Gene Symbol: MCFD2
• Assay Reference Genome Location: Chr.2:46941734 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCFD2	NM_001171508.2	1	122	NP_001164979.1
	NM_001171511.2	1	122	NP_001164982.1
	AK292127.1
	AK293889.1
	DC321899.1	1	110
	DC332658.1	1	122

Target Gene Details

• Entrez Gene ID: 57217
• Gene Name: tetratricopeptide repeat domain 7A
• Gene Aliases: GIDID, MINAT, TTC7
• Location: Chr.2:46915931-47076136 on Build GRCh38
• Assay Gene Location: Overlaps Exon 3 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TTC7A	NM_001288951.1			NP_001275880.1
	NM_001288953.1			NP_001275882.1
	NM_001288955.1			NP_001275884.1
	NM_020458.3			NP_065191.2
	XM_005264439.3			XP_005264496.1
	XM_011532998.2			XP_011531300.1
	XM_011532999.2			XP_011531301.1
	XM_017004524.1			XP_016860013.1
	XM_017004526.1			XP_016860015.1
	XM_017004527.1			XP_016860016.1
	XM_017004528.1			XP_016860017.1
	XM_017004529.1			XP_016860018.1
	XM_017004530.1			XP_016860019.1
	AK056464.1
	AL834383.1			CAD39046.2
	BC111487.1			AAI11488.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1071991	Chr.2:46940860 - 46941761 on Build GRCh38	Deletion	TTC7A MCFD2
nsv524970	Chr.2:46935600 - 47074956 on Build GRCh38	Loss	TTC7A MCFD2
nsv1004828	Chr.2:46829710 - 47587343 on Build GRCh38	Gain	LOC101927043 MIR559 BCYRN1 LINC01119 C2orf61 EPCAM TTC7A CALM2 HCG2040054 KCNK12 MCFD2 MSH2
nsv581749	Chr.2:46777649 - 47098834 on Build GRCh38	Loss	LINC01119 LOC105374587 LINC01118 C2orf61 TTC7A MCFD2

More Information

• Set Membership: Intragenic, Exonic, Non-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
cellular iron ion homeostasis
hemopoiesis
establishment of protein localization to plasma membrane

Function(s)

calcium ion binding