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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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