MCFD2

multiple coagulation factor deficiency 2, ER cargo receptor complex subunit, the group of EF-hand domain containing

Basic information

Region (hg38): 2:46901869-46941855

Links

ENSG00000180398

∙ NCBI:90411 ∙ OMIM:607788 ∙ HGNC:18451 ∙ Uniprot:Q8NI22 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

factor 5 and Factor VIII, combined deficiency of, 2 (Strong), mode of inheritance: AR
factor 5 and Factor VIII, combined deficiency of, 2 (Strong), mode of inheritance: AR
combined deficiency of factor V and factor VIII (Supportive), mode of inheritance: AR
factor 5 and Factor VIII, combined deficiency of, 2 (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Factor V and Factor VIII, combined deficiency of, 2	AR	Hematologic	Preventive measures and prompt treatment of bleeding diathese may reduce morbidity; Medical treatment to replace absent factors can be effective (eg, with FFP for FV, Desmopression or FVIII concentrates/recombinant products/plasma-derived factor for FVIII)	Hematologic	12717434; 15333032; 16304051; 19141160; 18391077; 21492322; 22535353

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MCFD2 gene.

Factor 5 and Factor VIII, combined deficiency of, 2 (103 variants)
not provided (22 variants)
Factor V and factor VIII, combined deficiency of, type 1 (11 variants)
Inborn genetic diseases (7 variants)
Thrombocytopenia;Abnormal bleeding (1 variants)
MCFD2-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCFD2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3 clinvar			3
missense			11 clinvar			11
nonsense						0
start loss						0
frameshift		1 clinvar				1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)		1				1
non coding ? UTR, intron and other, non coding variants			70 clinvar	9 clinvar	41 clinvar	120
Total	0	1	84	9	41

Highest pathogenic variant AF is 0.0000131

Variants in MCFD2

This is a list of pathogenic ClinVar variants found in the MCFD2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
2-46901872-G-C	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 13, 2018)	894908
2-46902109-T-C	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 12, 2018)	336325
2-46902145-A-G	Factor 5 and Factor VIII, combined deficiency of, 2	Benign (Jan 13, 2018)	336326
2-46902170-T-G	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 13, 2018)	336327
2-46902191-T-C	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 12, 2018)	894909
2-46902363-G-C	Factor 5 and Factor VIII, combined deficiency of, 2	Benign (Jan 13, 2018)	336328
2-46902364-C-T	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 13, 2018)	336329
2-46902390-G-GCC	Factor V and factor VIII, combined deficiency of, type 1	Uncertain significance (Jun 14, 2016)	336330
2-46902449-C-T	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 12, 2018)	336331
2-46902480-A-G	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 12, 2018)	896346
2-46902615-G-A	Factor 5 and Factor VIII, combined deficiency of, 2	Conflicting classifications of pathogenicity (Nov 01, 2022)	336332
2-46902620-A-T	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 12, 2018)	896347
2-46902674-C-G	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 13, 2018)	336333
2-46902681-TCA-T	Factor V and factor VIII, combined deficiency of, type 1	Uncertain significance (Jun 14, 2016)	336334
2-46902702-A-G	Factor 5 and Factor VIII, combined deficiency of, 2	Likely benign (Jan 12, 2018)	896348
2-46902703-C-A	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 12, 2018)	896349
2-46902788-G-C	Factor 5 and Factor VIII, combined deficiency of, 2	Benign (Jan 13, 2018)	336335
2-46902805-G-A	Factor 5 and Factor VIII, combined deficiency of, 2	Benign (Jan 13, 2018)	336336
2-46902816-T-G	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 12, 2018)	897962
2-46902831-CAAACATTTGGTATTCACTCCACTTCACTGTTACTGAAAAGCATCCACTTGGCAAAGCCTGTTGTTTTACTTTTCAGGTGATGTGAATTAAAATTAAGAAACTAGCAGTATTCTACTACAGTCAAGTTCCTGAGTACTCAGCTCCAATTATCTAATATTCTTGAAAGGATGCTGATATGGTTTGGTTGTGTCCCCCCACAAATCTCAACTTGAATTGTATCTCCCAGAATTCCCACGTGTTGTGGGACAGACCCAGGGGGAGGTAATTGAATCATGGGGGCCAGTCTTTCCCGTGCTATTCTCGTGACAGTGAATAAGTCTCATGAGATCTGATCAGTTTATCAGGGGTTTCTGCTTTTGCTTCTTCCTCATTTTTTCTTGCCACAATGTAAGAAGTGTCTTTTGCCTCCCACCATGATTCTGAGGCCTCCCCAGCCATGTGGAACTTTAAGTCCAATTAAACCACTTTTTCTTCCCAGTCTCGGGTATGTCTTTATCAGCAGCGTGAAAACGGACTAATACAGTAAATTGGTACCAGTAGATTGGGACCTGCTGAAGAAATACCCAAAATGTGGAAGTGACTTTGGAACTGGGTAACAGGCAGAGGCTGGAACAGTTTGGAGGGCTCAGAAGAAAACAGGAAAATGTGGGAAAGTTTGGAACTTCCTACAGACTTGTTGAATGGCTTTGCCCCAAATGCTGATAGCAATATGGACAACAAAGTCCAGGCTGAGGTGGCCTCAGATGAAGATGAGGAACTTGTTGGGAACTGGAGTAAAGGTGACTCTTGTTATGTTTTAGCAAAGAGACTGGCAGCATTTTGCCCCTTCCATAGGGATTTGTGGAACTTTGAACTTGAGAGAGATGATTTAGGTTAACTAGCGGAAGAAATTTCTAAGCAGCAAAGTGTTCAACAGGTGACTTGGGTGCTTTTAAAGGCATTCCCTTATAAATAAGGGAAGCAAAGCATAAAAGTTTGGAAATTTGCAGCCTGACTATGCAATAGAAAAGAAAAACCCATTTTCTGGGGAGAAATTCAAGCCAGCTGCAGAAATTTGCATAAGTAGCAAGGAGCCTAATGTTAATCCCCAACACCATGGGGAAAATGTCTCCAGGCCATGTCAGGGCAGCCCCTGACATGTGTGTGCAGCCTAGGGACTTGGTGTCTTGTGTCCCAGCCACTCCAGCCATGGCTGAAAGGGGCCAACATACAGCTCGGGCTGTGGCTTCAGAGTGGAAGCCCCAAGCCTTGGCAGCTTCTATGTGCTGTTAAGCCTGCAGGTGCACAGAAGTCAAGAATTGAGATTTGGAAACCTCCGCCTAGTTTTCAGAAGATGTATGGAAATGCCTCAATGCCCAGGCAAACGTTTGCTGCAGGGGAGAGGCCCTCTCAGCGGCAGGGGAGAGAACCTCTGCTAGGGCAGTGCAGAAGGGAAATGTGGTGTGGGAGCCCCCACACAGAGTCCCTACTGGGGCACTGCCTAGTGGAGCTGTGAGAAGAGGGCCACCGTCCTCCAGACCCCAGAATGGTAGATCCACCAACAGCTTGCACCGTGCACCTGGAAAAGCCGCAGGCACTGAACAACAGCCGTGAAAGCAGCCAGGAGGGAGGCTGTACCCTACAAAGCCACAGGGGCAGAGCTGCCCAAGACCATGGGAACCCACTTCTTGCATCAGTATGACCTGGATGTGAGACCTGGAGTCAAAGGAGATTATTCTGGAACTTTAAAATTTGACAGCCCTGCTGGATTTCGGACTTGCATGGGCCCTGTAACCCCTTTATTTTGGCCAATTTCTCCCATTTGGAACAGCCGTCTTTAATCAATACCTGTACCCCTGTTGGTATCTAGGAAGTAACTAGCTTGCTTTTGATTTTACAGGCTCATAGGTGGAAGGGACTTGCCTTGTCTCAGATGAGACTTTGGACTGTGGATTTTTGCGTTAATGCTGAAAAGAGTTAAGACTTTGGGGGACTGTTAGGAAGGCATGATTGGTTTTGAATAGTGAGGACATGAGATTTGGAGGGGCCAGGGGTAGAATGATATGGTTTGGCTATGTCCCCACCCAAATCTCAACTTGAAATTGTATCTACCAGAATTCCCACGTGTTGTGGGAGAGACCCAAGGGGAGGTAATTGAATCATGGGGGCCAGTCTTTCCCATGCTATTCTTGTGATAGTGAATAAGTTTCACAAGATCTGATGGCTTATCAGGGGTTTCCACTTTTGCTTCTTCCTCATTTTCTCTTGCTGCCATGTAAGAAGTGCCTTTCACCTCCCGCCATGATTCTGAGGCCTCCCCAGCCATGTGGAACTGTAAGTCCAAGTAAACCTCTTTTTCTTCCCAGTCTCGGGTACGTCTTTATCAGCAGCATTAATACAGACTAATACAGATGCTTGAAGCAAGCCCTTGTCCAATAAGGTATTTAATAGCACTTAGGGACTATTAGATGTCCCATTTCTCTTCTCTTTCATTTCTCTTATCTCTTCTCACCCCAGTGTAACGAATCGCTACAGGTTTTTACCAAAATGCTGCAGCAGTAGTTGGAAATGAGTTATTTTGCATTACTAAAGTGTTCAATCACATTATCACGGGTCACATTTGTATATAACCAGGAGATGGCCAAATAACATCTACTGCAGTGATTTTGCAAATTCAGCATAGTCAATGTATCCATCATTGTTCTTGTCATCATCTCTCAAAACACCATCTATTATGTTAATCAGTTCATCTTCACTCATTAGTGGTGCCTGTTCACTCCCTTCCTACAAAATACAAATTAGACAATGATGAGTTGCGCATTTTACCGGAAGAAGTGCTTAACTAACGTCCAAAATATCCATGTTCTTTCATGGCACTGTTTATTAAAAAAAAAAAAAAAAAAAAGGAAAAACAAAACAACAAAATATCCACGCTCATATGTGTCCAAAAACTTTCAATGGAGTATGGGGCTACTTCTAGGAATCTAGATATATAGAGAGAGAATATGTATTATTGAGTCAATTTATCATAATCCAGTTTAGAAATTACATTTGCCAGTTAAAAGAAGGCCCTTCAAAATAGGCTTTTGCTTATTTGTTTCATTATGGCTCATTCTTCTTTAATTGGAAAAGTGCCAGTCCTCCTGAGGGTCAGCTCTGTGCACAAATTTGCCTGATAAAATAGAAACAGTGACGAATTGGACAACAAGTTGGCATCAAAACAAGAGGAAGAAGGCACTGCCGATGAGCAGAACCTGTTATGATCTTTGAGGAGAAAGTATTTCCCATGCTCCAAGAGCAGGGTTAGTGGGCTGAGGCTGTTCACATCCTTGGCTGGTTCTTCCTTTGCCACATCTCCCACATTCACCATTCCCTCTCCTGTCACCACCACTATCCTCATCTGCCAGGACTGCTGACCCCTAATTCCTCCGCCTAACACTAGTCTCTCCTCATGTCCTTCAGTCTGTCTCCCACAACCAAGGATCTTCCCTAAACAATGCCATTCTCCTGTGCAAAATCATTCATGCTCCCTGCTGCCTTCAAACCTCACCTGCACTCCTAGCAGCGAATGTAATCCCACTCACCTGGCTAACTTTGCCTTGCTTCCTCTCTATAGAGGGCAGTGTGGCAGAAGGGGAATGACATTAAATGTGGAGGCACGAGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTGACTCTGTCACCCAGGCTGGAGTCCAGTAGCACGATCACAGCTCACTGCAGCCTCGACCTCCCAGGCTCAGGTGTTCCTCCCCACTACCCTCCCACCCCGTCACCCCAGCAGCTGGGATTACAGGCAAGCATCACTATGTCCAGCTAATTTTTGTAGAGACGGGATATCACCATGCTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCCTGCCTCAACCTCCCAAAGTGCTGGGATAATAGGCATGAGCCACTGTGCTTAGCCTGGCACAAGATCTTGATTTCAGTGTCTTCACCTAGAAAATGGGAGGGTTTTGTTTGTTTTTTGTTTTCTGAGACAGGATCTCGCTCTATTGCCCAGGCTGGAATTCAGTGGCAACATCGCAGCTTGCCACAGCCTCAACCTCTCAGGTTCAAGTGATCCTCCTACTTCAGCATCATGAGTAGCTGGGACTACAGGCATGCACCACTGAAAATGGAAGTATTAACAATGCCTGCCACTGCCTACTCAAGATGTTGCAAAGATCCAACGAGATCTCTAACCTACTTGAAAGGGCTTCAGAAACTTTGGAGCACCATACAGTATCACACAAGCCCTCAATTACTGCCACGTCCCTGAATCCCTTGGTGTCAATTCACCATTAAACAACTTCTCCCTTGCTCTGCAGTTTGAATACGGTCTGTCTTTTAGGCACTGATTCTCATACTCTGGTGTGTAACAGAAATGCCTGTAGCACTTAAAGATACAAATGCCCAGCCCTGGGACTTCTGCCTCAGCAAGTTATCCTTTGCGGGAAGGATCGTTGGACAGAAAGAGGCAGAACACAGAAGAGAAAGAAGCAGCAGCACCTTTTTTTTTCTTTTCTTTTTTTCTCTTTTTGAGACAAGGCCTCACTCTGTTGCCCAGGCTGAAGTGCGGTGGCATGATTATGGCTCACTATAGCCTCGACATCCTGGACTCAAGCAATCCTCCCACCTTAGCCTCCTGAGTACGTAGAACTACGGGCATGCACTACCAGGCCTGGCTAATTTTTTAATTTTTGTTTTGTTTGTTTTGTAGAGACAGGGTCTCACTATATTGCCAAGGCTGGTCTTGAACTCCTGGCTCAAGTGATCCTTCCACTTTGGCCTCCCAAAGTGCTGGGATTACAGATGCGAGCCATCATGCCCAGTGGAGAAGCAGCACTCTTGGCACATAAGGACAACACAAGTCAACAAGACTGGGGACCAAATTAACAAAGGGAAGCCTTTCTGTGATACAGTCCCCCAAGCCACTGCCAGACCTACCTCCTTATGGACATGAGTGATGGCTGTGGAGAGTTCTAAGCCATCAAGCAAATTATTGCCATCATAATCATGCATTTTGAAGTAATGGAGCTGCAATTCTTGTGGCGACATCTCCGCCTCTGGTTTGTTGATGACACCTTCTAGATGCTCCATGATATGCCTAAAAATCAACAGTCAGGTTCAGGCCAATTGACAGATACTGGGATCATGCTGAAATCTTAAGGACTCTGAAAAGTTCAAGATCTTAAACTTCCTCCAGCTCAGAAAAACAAACACCAGCAGTGGCAGACCACACTCAAGGATTACACAGAGATAGACAAGGCCTTGAGAGGAGCAGGAAAAGTCAAATAGACCATCTGTTATGCTGGCAGGATTAGGGTATTCTTTCCTCTTTATTATTAGAATTTTGTTATAACATTTTCAGGCCATCAATTTAAAAATATGTCCTTTAAAACTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTGCCACCCAGGCTGGAGTGCAGGAGCGTGATCTTGGCTCATTGTAGCCTCAACTTCCCAAGCTCAGTTGATTCTCCCACTTCAGCCCCCCAAGTAGCTGGGACCATAGGCATGTACTGCCACATCCAGCTAATTTTTTGCAATTTTTTAGTAGAGACAGGTTTTCCCTATATTGCCTAGGCTGGTCTCGAATTCCTGGGCTCAAGTAATCCACCTGCCTCAGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACTGCACCCAGCCTTAAAAACAAAGGATAACCGAGTATAATGCGTGAGGCTAACTGGCCCAAGACAAAAGCTGCAACAAATGATTCAATGTTTGAATGTGTTGATTTAAAAAAGGTCTTGTTATAGTCAAGAAACCTTAGCTATTTTCTGGATTCTGCTACTATGACTGTGTATGTGTACCTGTGTGTCTATTTGTATGTGTGTGTGTCTGTCTGTGGTGAAAAAAAGGAGAGACCGGATTCAGACAAGTAATGTGCCCCATTTGGGCCTAAAGATCTTCCACCTGTGATACAATGATGAAAAAAGAATACCTGACTTATAGGTGGCAATAAGGAATAAGAATCATCCTTGAAGAATGTCAAGGAGCCATAGAAACAGGAAGAAGGAAAGGAGGACTGAGCATGCCCTTGCCGCTGGCTCAGCTGCAGATGATGGGGAGGCCACTGGACCACAGCCCGGGCTGAATACGTACTCTTGGTCGTGCACTGTGTTCTTATCCAGGCCCATGCTGCCGGGTTGGGAGAAGCTGGCTGCAGGCTCCTCAGCCCTGGCGCCTGGGGCACAAAAGGCCCAGAGCAGGCCACACAGGAAGGGGGTTCTGAGCAGGGATCTCATGGTCATCAATATCTGTGAGATGGGAAACACAGAAGAGGAAGGCAGAGCATCAGAGCAAAGGTTTCGTTCAGGGCTTGACATGGTATGATCCTGGGAAACCTGATGAAGCAGTAAGGTTAGGAAGAGAGCTTGTCAAACACGGCCCAATGCCAGCTCTGCTTTGAGACTGTGGGATGACCCTGGGCACTCCAAGTCACTCAAATGGCAGGGGAAGGCTCACGAGGTTTCCTGAAGTGCCTGCAGAGTGCCAAGCAACACGTGAAAGCTTGAAGGGACTGGAAGATTATTCTTGCCTCCCAGAAGTTATGGTCCCCTGAAAGAAATATTTTCTATCAAGAGCACCAGGAAAGGCAGCCAGCAAGTTATATCAGATTATCAGAGAAAGCGAAAACCCTCTAGGAGTTCAGGGGAAGAAATCTCCTCCGAGTGGAGGAAAATCAGAGAAGGCTGATAGAGCTGGTGACACTTCAGCTGGGCCTGGACAGATATGCAGGGACTGAAGGACCACAGGAATGGTGGGAGCAGAGTGGCAGGTGCCCACAAGCGGGAAAGAAACTACAAGTAGTTCAGCTGGGCTGCAGCCTAGAGGGTAGGAAGCAGACAGGACAGAGGTGGCTCCAAGGCCTAGACAGGCTGTACTGGACAGGGCTTTGCACACTAGGCCAGGGCTTGACATCTCCTGCAGAGAAAGACAGGAGAGTCACTTACAATTCATGAATGGGAGGTGAGATCAGAGCTTGGTTTCAGAATGACTCATCTGGCAGCACAGTGGGGAAGGCATGAAGTGGCAAAAGCAAGACTAGAGGCAGGAGCATGGTAGCCAAGGGAGTGGTAAGGCGGGTCAGATCAAGGTCTGCGGCAGCGGACAAGGTTCTGTACCTCCTGGGTGGTAACAGTGGCAAGTAACTACAGTGAGCGGGCACTGGAAAGAAAAGTTACAGAGAAATCAGGATGCCATCAGGAACTCCCAGGGTTTGGCCACACTTGGAATTGTGGTCAATAAGATGACAGTCAGCTACAGAGCAAGCTCTTGGAGGGCAGGGAGAACTTTAACCCCACCAGTATTACCCGCCAAGGGTCAGGCAGGCCTTTAATAATTGTTGATTCAATGGAAAGTCTTGGTCTGTCCTAGGGCTGACAGACTGACCTCAAAAAGGAAGGTGAAGGACAGCCAGGTGACCTACATACAAAAACAAAAGACCTGACCGAACACTCACTTCCCAACAGGCAAAACAGATTCTGCTAGATAACAAGGCCAGGGATTTCTAACAGGTCAATTGTAGTCCACAGCCCCAAACCAGCAGTGGTAAAGACAAACCATAAGGCACTGGTCATCCCCTTTACATGCTACACACAGGGCTCAGCTCAGAAGCTGTAGCTGTCTTTGTGCCTGGGGCTGAGAGGTAGAGGTGTTATAGTCCCTCTTACCCATCCTAAAAGGCTCTCAGGGCAGAACCCTGAAAGTGTGAGTATGCCACCCTACAACACTTAGAAAAATTTCCCAAATCCGTTTTTCCCATTACCAGTATTGCTTCCCATGGCCCCCTCCTTAAAGGGGACAATAGTCACTGGGATGTCTAACTTCCAGGATAGGCCAGGCATGGTGGTTCATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTTGAGATCAG-C	Reduced von Willebrand factor activity;Reduced quantity of Von Willebrand factor	Likely pathogenic (-)	812908
2-46902898-T-C	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 12, 2018)	336337
2-46902907-G-A	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 13, 2018)	897963
2-46903009-G-T	Factor 5 and Factor VIII, combined deficiency of, 2	Benign (Jan 13, 2018)	336338
2-46903027-C-A	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 12, 2018)	897964
2-46903040-T-C	Factor 5 and Factor VIII, combined deficiency of, 2	Uncertain significance (Jan 13, 2018)	897965

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MCFD2	protein_coding	protein_coding	ENST00000409105	3	39986

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.100	0.783	125737	0	10	125747	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.575	91	76.8	1.18	0.00000378	978
Missense in Polyphen		15	17.979	0.8343		275
Synonymous	-0.519	36	32.2	1.12	0.00000188	267
Loss of Function	1.21	2	4.87	0.411	2.10e-7	64

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000246	0.000246
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors. {ECO:0000269|PubMed:12717434}.;
Disease: DISEASE: Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]: A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. {ECO:0000269|PubMed:12717434, ECO:0000269|PubMed:18590741, ECO:0000269|PubMed:18685427, ECO:0000269|PubMed:20491958}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Cargo concentration in the ER;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;COPII-mediated vesicle transport;ER to Golgi Anterograde Transport (Consensus)

Recessive Scores

pRec: 0.126

Intolerance Scores

loftool: 0.0726
rvis_EVS: -0.16
rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

pHI: 0.175
hipred: Y
hipred_score: 0.510
ghis: 0.588

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.903

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Mcfd2
Phenotype: homeostasis/metabolism phenotype;

Gene ontology

Biological process: endoplasmic reticulum to Golgi vesicle-mediated transport;protein transport;COPII vesicle coating
Cellular component: Golgi membrane;endoplasmic reticulum membrane;ER to Golgi transport vesicle membrane;endoplasmic reticulum-Golgi intermediate compartment membrane
Molecular function: calcium ion binding;protein binding