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Mcfd2 multiple coagulation factor deficiency 2 [ Mus musculus (house mouse) ]

Gene ID: 193813, updated on 21-Apr-2024

Summary

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Official Symbol
Mcfd2provided by MGI
Official Full Name
multiple coagulation factor deficiency 2provided by MGI
Primary source
MGI:MGI:2183439
See related
Ensembl:ENSMUSG00000024150 AllianceGenome:MGI:2183439
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
F5f8d; Sdnsf; Lman1ip; 1810021C21Rik
Summary
Predicted to enable calcium ion binding activity. Predicted to be involved in negative regulation of cell death. Predicted to act upstream of or within carboxylic acid metabolic process. Predicted to be located in extracellular region. Is expressed in central nervous system; chondrocranium; jaw; pancreas epithelium; and retina. Orthologous to human MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver E18 (RPKM 52.3), liver adult (RPKM 47.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
17 E4; 17 57.06 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (87561871..87573382, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (87254443..87265947, complement)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41647 Neighboring gene microRNA 12190 Neighboring gene STARR-positive B cell enhancer ABC_E3220 Neighboring gene RIKEN cDNA 4833418N02 gene Neighboring gene STARR-positive B cell enhancer ABC_E9969 Neighboring gene tetratricopeptide repeat domain 7 Neighboring gene predicted gene, 52284

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression. Everett LA, et al. Blood Adv, 2020 Nov 24. PMID 33196840, Free PMC Article
  2. Analysis of MCFD2- and LMAN1-deficient mice demonstrates distinct functions in vivo. Zhu M, et al. Blood Adv, 2018 May 8. PMID 29735583, Free PMC Article
  3. Nitric oxide-induced endoplasmic reticulum stress activates the expression of cargo receptor proteins and alters the glycoprotein transport to the Golgi complex. Renna M, et al. Int J Biochem Cell Biol, 2006. PMID 16899390
  4. Stem cell-derived neural stem/progenitor cell supporting factor is an autocrine/paracrine survival factor for adult neural stem/progenitor cells. Toda H, et al. J Biol Chem, 2003 Sep 12. PMID 12832409
  5. Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin. Zhang B, et al. Blood, 2011 Sep 22. PMID 21795745, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within carboxylic acid metabolic process ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within protein transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region ISO
Inferred from Sequence Orthology
more info
 PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_139295.3 → NP_647456.1  multiple coagulation factor deficiency protein 2 homolog precursor

    See identical proteins and their annotated locations for NP_647456.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC084383, AK033139, AK151803
    Consensus CDS
    CCDS29015.1
    UniProtKB/Swiss-Prot
    Q3U9G5, Q8K5B2
    UniProtKB/TrEMBL
    D0EW11, D3Z1G3
    Related
    ENSMUSP00000024963.4, ENSMUST00000024963.11
    Conserved Domains (1) summary
    pfam13499
    Location:76 → 142
    EF-hand_7; EF-hand domain pair

  2. NM_176808.5 → NP_789778.1  multiple coagulation factor deficiency protein 2 homolog precursor

    See identical proteins and their annotated locations for NP_789778.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC084383, AK033139, AK141599, AK151803
    Consensus CDS
    CCDS29015.1
    UniProtKB/Swiss-Prot
    Q3U9G5, Q8K5B2
    UniProtKB/TrEMBL
    D0EW11, D3Z1G3
    Related
    ENSMUSP00000121820.2, ENSMUST00000144236.9
    Conserved Domains (1) summary
    pfam13499
    Location:76 → 142
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    87561871..87573382 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006523900.4 → XP_006523963.1  multiple coagulation factor deficiency protein 2 homolog isoform X1

    See identical proteins and their annotated locations for XP_006523963.1

    UniProtKB/TrEMBL
    D3Z1G3
    Conserved Domains (1) summary
    pfam13499
    Location:85 → 151
    EF-hand_7; EF-hand domain pair

  2. XM_030249607.1 → XP_030105467.1  multiple coagulation factor deficiency protein 2 homolog isoform X1

    UniProtKB/TrEMBL
    D3Z1G3
    Conserved Domains (1) summary
    pfam13499
    Location:85 → 151
    EF-hand_7; EF-hand domain pair

  3. XM_006523901.4 → XP_006523964.1  multiple coagulation factor deficiency protein 2 homolog isoform X2

    See identical proteins and their annotated locations for XP_006523964.1

    UniProtKB/Swiss-Prot
    Q3U9G5, Q8K5B2
    UniProtKB/TrEMBL
    D0EW11, D3Z1G3
    Related
    ENSMUSP00000123352.2, ENSMUST00000129616.8
    Conserved Domains (1) summary
    pfam13499
    Location:76 → 142
    EF-hand_7; EF-hand domain pair

  4. XM_011246328.2 → XP_011244630.1  multiple coagulation factor deficiency protein 2 homolog isoform X1

    See identical proteins and their annotated locations for XP_011244630.1

    UniProtKB/TrEMBL
    D3Z1G3
    Conserved Domains (1) summary
    pfam13499
    Location:85 → 151
    EF-hand_7; EF-hand domain pair

  5. XM_030249609.1 → XP_030105469.1  multiple coagulation factor deficiency protein 2 homolog isoform X2

    UniProtKB/Swiss-Prot
    Q3U9G5, Q8K5B2
    UniProtKB/TrEMBL
    D0EW11, D3Z1G3
    Conserved Domains (1) summary
    pfam13499
    Location:76 → 142
    EF-hand_7; EF-hand domain pair

  6. XM_030249608.1 → XP_030105468.1  multiple coagulation factor deficiency protein 2 homolog isoform X1

    UniProtKB/TrEMBL
    D3Z1G3
    Conserved Domains (1) summary
    pfam13499
    Location:85 → 151
    EF-hand_7; EF-hand domain pair
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K5B2.1 GenPept UniProtKB/Swiss-Prot:Q8K5B2

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