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

Summary

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 protein transport and vesicle-mediated transport. 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, Nov 2024]
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

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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MCFD2-deficient mice generated by gene targeting also demonstrate reduced plasma FV and FVIII, with levels lower than those in LMAN1-deficient mice, similar to previous observations in LMAN1- and MCDF2-deficient humans.
Title: Analysis of MCFD2- and LMAN1-deficient mice demonstrates distinct functions in vivo.
These results indicate that increased levels of cargo receptor proteins might have a function either in the quality control of protein folding in the endoplasmic reticulum or in the homeostasis of the intermediate compartment and Golgi complex.
Title: Nitric oxide-induced endoplasmic reticulum stress activates the expression of cargo receptor proteins and alters the glycoprotein transport to the Golgi complex.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium 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
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in 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 endoplasmic reticulum-Golgi intermediate compartment	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)

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
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

NC_000083.7 Reference GRCm39 C57BL/6J

Range

87561871..87573382 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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