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Mcfd2 Gene Detail
Summary
  • Symbol
    Mcfd2
  • Name
    multiple coagulation factor deficiency 2
  • Synonyms
    1810021C21Rik, F5F8D, LMAN1IP
  • Feature Type
    protein coding gene
  • IDs
    MGI:2183439
    NCBI Gene: 193813
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:87561871-87573363 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 57.06 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    193 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2183439
 protein coding gene Chr17:87561871-87573382 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024100
 protein coding gene Chr17:90629869-90642127 (-)
A/J MGP_AJ_G0024059
 protein coding gene Chr17:87713728-87726334 (-)
AKR/J MGP_AKRJ_G0024028
 protein coding gene Chr17:89188573-89200984 (-)
BALB/cJ MGP_BALBcJ_G0024060
 protein coding gene Chr17:87563889-87575597 (-)
C3H/HeJ MGP_C3HHeJ_G0023825
 protein coding gene Chr17:90057089-90070762 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024505
 protein coding gene Chr17:93757877-93768887 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021944
 protein coding gene Chr17:82854544-82865814 (-)
CAST/EiJ MGP_CASTEiJ_G0023304
 protein coding gene Chr17:90883719-90896395 (-)
CBA/J MGP_CBAJ_G0023799
 protein coding gene Chr17:97700742-97719138 (-)
DBA/2J MGP_DBA2J_G0023927
 protein coding gene Chr17:86150141-86161700 (-)
FVB/NJ MGP_FVBNJ_G0023893
 protein coding gene Chr17:85661622-85672998 (-)
LP/J MGP_LPJ_G0024011
 protein coding gene Chr17:91415139-91427978 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023921
 protein coding gene Chr17:97583858-97596241 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024550
 protein coding gene Chr17:89707703-89719982 (-)
PWK/PhJ MGP_PWKPhJ_G0023049
 protein coding gene Chr17:85789496-85801279 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022860
 protein coding gene Chr17:86451319-86462692 (-)
WSB/EiJ MGP_WSBEiJ_G0023370
 protein coding gene Chr17:90545845-90556898 (-)



Homology
more
  • Human Ortholog
    MCFD2, multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MCFD2, multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
  • Synonyms
    F5F8D, F5F8D2, LMAN1IP, SDNSF
  • Links
    NCBI Gene ID: 90411
    neXtProt AC: NX_Q8NI22
    UniProt: Q8NI22

  • Chr Location
    2p21; chr2:46901870-46941855 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    4 phenotypes from multigenic genotypes
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit decreased serum factor V and VIII and aspartate transaminase serum levels with accumulation of the proteins in the ER of hepatocytes.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    8
  • GO References
    3
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    776
  • Tissues
    34
  • cDNA Data
    147
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024150 Ensembl Gene Model | MGI Sequence Detail 11493 C57BL/6J ±  kb
    transcript ENSMUST00000129616 Ensembl | MGI Sequence Detail 813 Not Applicable  
    polypeptide ENSMUSP00000123352 Ensembl | MGI Sequence Detail 145 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 148
      cDNA 148

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1923602
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 4
      Gene Ontology 3
      Phenotypes 6
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:299745 Everett LA, et al., Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression. Blood Adv. 2020 Nov 24;4(22):5635-5643
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/19/2023
    MGI 6.22     		The Jackson Laboratory