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MCFD2 multiple coagulation factor deficiency 2 [ Homo sapiens (human) ]

Gene ID: 90411, updated on 5-Dec-2018

Summary

Official Symbol
MCFD2provided by HGNC
Official Full Name
multiple coagulation factor deficiency 2provided by HGNC
Primary source
HGNC:HGNC:18451
See related
Ensembl:ENSG00000180398 MIM:607788
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
F5F8D; SDNSF; F5F8D2; LMAN1IP
Summary
This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]
Expression
Ubiquitous expression in adrenal (RPKM 49.7), thyroid (RPKM 38.1) and 25 other tissues See more
Orthologs

Genomic context

See MCFD2 in Genome Data Viewer
Location:
2p21
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (46901870..46941855, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (47129009..47168994, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1118 Neighboring gene long intergenic non-protein coding RNA 1119 Neighboring gene uncharacterized LOC107985880 Neighboring gene tetratricopeptide repeat domain 7A Neighboring gene Sharpr-MPRA regulatory region 1272/3994 Neighboring gene VISTA enhancer hs1967

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Factor v and factor viii, combined deficiency of, 2
MedGen: C3150889 OMIM: 613625 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog

Pathways from BioSystems

  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
    COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
  • Cargo concentration in the ER, organism-specific biosystem (from REACTOME)
    Cargo concentration in the ER, organism-specific biosystemComputational analysis suggests that ~25% of the proteome may be exported from the ER in human cells (Kanapin et al, 2003). These cargo need to be recognized and concentrated into COPII vesicles, wh...
  • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
    ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
    Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686G21263

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
COPII vesicle coating TAS
Traceable Author Statement
more info
 
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
multiple coagulation factor deficiency protein 2
Names
neural stem cell-derived neuronal survival protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016428.2 RefSeqGene

    Range
    5001..44986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_566

mRNA and Protein(s)

  1. NM_001171506.2NP_001164977.1  multiple coagulation factor deficiency protein 2 isoform A precursor

    See identical proteins and their annotated locations for NP_001164977.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (A).
    Source sequence(s)
    AF537214, AI371370, CF994192, DA324623, DA330030
    Consensus CDS
    CCDS33192.1
    UniProtKB/Swiss-Prot
    Q8NI22
    Related
    ENSP00000386279.1, ENST00000409973.5
    Conserved Domains (1) summary
    pfam13499
    Location:77143
    EF-hand_7; EF-hand domain pair
  2. NM_001171507.2NP_001164978.1  multiple coagulation factor deficiency protein 2 isoform A precursor

    See identical proteins and their annotated locations for NP_001164978.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (A).
    Source sequence(s)
    AF537214, AI371370, DA404031
    Consensus CDS
    CCDS33192.1
    UniProtKB/Swiss-Prot
    Q8NI22
    Related
    ENSP00000386261.1, ENST00000409218.5
    Conserved Domains (1) summary
    pfam13499
    Location:77143
    EF-hand_7; EF-hand domain pair
  3. NM_001171508.2NP_001164979.1  multiple coagulation factor deficiency protein 2 isoform A precursor

    See identical proteins and their annotated locations for NP_001164979.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (A).
    Source sequence(s)
    AF537214, AI371370, AK292127, DC321899, DC332658
    Consensus CDS
    CCDS33192.1
    UniProtKB/Swiss-Prot
    Q8NI22
    Related
    ENSP00000386386.1, ENST00000409207.5
    Conserved Domains (1) summary
    pfam13499
    Location:77143
    EF-hand_7; EF-hand domain pair
  4. NM_001171509.2NP_001164980.1  multiple coagulation factor deficiency protein 2 isoform B

    See identical proteins and their annotated locations for NP_001164980.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks the first coding exon, compared to variant 1. This difference results in the use of an in-frame downstream start codon. The encoded protein (isoform B) has a shorter N-terminus, compared to isoform A, that is not predicted to have a signal peptide. Variants 5 and 6 encode the same isoform (B).
    Source sequence(s)
    AF537214, AI371370, BC037845, DA324623, DA330030
    Consensus CDS
    CCDS54354.1
    UniProtKB/Swiss-Prot
    Q8NI22
    Related
    ENSP00000386941.1, ENST00000409913.5
    Conserved Domains (1) summary
    pfam13499
    Location:2591
    EF-hand_7; EF-hand domain pair
  5. NM_001171510.2NP_001164981.1  multiple coagulation factor deficiency protein 2 isoform B

    See identical proteins and their annotated locations for NP_001164981.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks the first coding exon and differs in the 5' UTR, compared to variant 1. These differences result in the use of an in-frame downstream start codon. The encoded protein (isoform B) has a shorter N-terminus, compared to isoform A, that is not predicted to have a signal peptide. Variants 5 and 6 encode the same isoform (B).
    Source sequence(s)
    AF537214, AI371370, DA404031, DB096245
    Consensus CDS
    CCDS54354.1
    UniProtKB/Swiss-Prot
    Q8NI22
    Related
    ENSP00000387202.1, ENST00000409800.5
    Conserved Domains (1) summary
    pfam13499
    Location:2591
    EF-hand_7; EF-hand domain pair
  6. NM_001171511.2NP_001164982.1  multiple coagulation factor deficiency protein 2 isoform C

    See identical proteins and their annotated locations for NP_001164982.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains a distinct 5' UTR and 5' coding region, compared to variant 1. These differences result in the use of a novel start codon, compared to variant 1 and a protein (isoform C) with a novel N-terminus, compared to isoform A, that is not predicted to have a signal peptide.
    Source sequence(s)
    AF537214, AI371370, AK292127, AK293889, DC321899, DC332658
    Consensus CDS
    CCDS54355.1
    UniProtKB/Swiss-Prot
    Q8NI22
    UniProtKB/TrEMBL
    B4DF17
    Related
    ENSP00000394647.2, ENST00000444761.6
    Conserved Domains (1) summary
    pfam13499
    Location:58124
    EF-hand_7; EF-hand domain pair
  7. NM_139279.5NP_644808.1  multiple coagulation factor deficiency protein 2 isoform A precursor

    See identical proteins and their annotated locations for NP_644808.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform A. Variants 1, 2, 3 and 4 encode the same isoform (A).
    Source sequence(s)
    AF537214, AI371370, DA324623, DA330030
    Consensus CDS
    CCDS33192.1
    UniProtKB/Swiss-Prot
    Q8NI22
    Related
    ENSP00000317271.4, ENST00000319466.8
    Conserved Domains (1) summary
    pfam13499
    Location:77143
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    46901870..46941855 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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