Mcfd2 MGI Mouse Gene Detail - MGI:2183439 - multiple coagulation factor deficiency 2

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

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

SNPs within 2kb

427 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

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

HGNC:18451

NCBI Gene ID: 90411

neXtProt AC: NX_Q8NI22

UniProt: Q8NI22
Chr Location

2p21; chr2:46901870-46941855 (-) GRCh38

MGI Vertebrate Homology

Mcfd2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MCFD2
Gene Tree

Mcfd2

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
4 phenotypes from multigenic genotypes
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Endonuclease-mediated

2
Gene trapped

7
Targeted

3
Incidental Mutations

CvDC
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

8
GO References

4

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	DNA-templated transcription	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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mcfd2

ZFIN mcfd2

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All Sequences

74
RefSeq

16
UniProt

6
CCDS

CCDS29015.1

Ensembl

ENSMUSG00000024150 (Evidence)
NCBI Gene

193813

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024150	Ensembl Gene Model \| MGI Sequence Detail	11493	C57BL/6J	± kb
transcript	ENSMUST00000024963	Ensembl \| MGI Sequence Detail	2038	Not Applicable
polypeptide	ENSMUSP00000024963	Ensembl \| MGI Sequence Detail	145	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000010239 multiple coagulation factor deficiency protein 2

(term hierarchy)
InterPro Domains

IPR018247 EF-Hand 1, calcium-binding site

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR052110 ER-Golgi Transport and Cell Adhesion Regulator

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All nucleic 148

cDNA 148

Microarray probesets 4

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MGI:1923602

Summaries

All 36

Developmental Gene Expression 4

Gene Ontology 4

Phenotypes 7
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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Mcfd2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr149761	Chr17:87573294-87573349 (-)	41 bp
Tssr149760	Chr17:87571667-87571693 (-)	1,683 bp
Tssr149759	Chr17:87571655-87571666 (-)	1,702 bp

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)
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