MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit) - Rat Genome Database

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Gene: MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit) Canis lupus familiaris
Analyze
Symbol: MCFD2
Name: multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
RGD ID: 12186007
Description: ENCODES a protein that exhibits calcium ion binding (inferred); metal ion binding (inferred); INVOLVED IN carboxylic acid metabolic process (ortholog); ASSOCIATED WITH Factor V and Factor VIII, Combined Deficiency of, 2 (ortholog); Familial Multiple Coagulation Factor Deficiency I (ortholog); genetic disease (ortholog); FOUND IN extracellular region (ortholog)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: multiple coagulation factor deficiency 2; multiple coagulation factor deficiency protein 2
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11049,091,466 - 49,101,769 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1049,092,908 - 49,101,775 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1048,944,989 - 48,955,352 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01049,961,866 - 49,972,101 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1049,961,874 - 50,001,189 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11049,669,845 - 49,680,077 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01049,959,594 - 49,969,896 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01050,143,441 - 50,153,684 (-)NCBIUU_Cfam_GSD_1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References
Additional References at PubMed
PMID:22301074  


Genomics

Comparative Map Data
MCFD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11049,091,466 - 49,101,769 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1049,092,908 - 49,101,775 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1048,944,989 - 48,955,352 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01049,961,866 - 49,972,101 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1049,961,874 - 50,001,189 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11049,669,845 - 49,680,077 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01049,959,594 - 49,969,896 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01050,143,441 - 50,153,684 (-)NCBIUU_Cfam_GSD_1.0
MCFD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38246,901,870 - 46,941,855 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl246,901,870 - 46,941,855 (-)EnsemblGRCh38hg38GRCh38
GRCh37247,129,009 - 47,168,994 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36246,982,517 - 46,996,453 (-)NCBINCBI36Build 36hg18NCBI36
Build 34247,040,667 - 47,054,600NCBI
Celera246,967,630 - 47,007,856 (-)NCBICelera
Cytogenetic Map2p21NCBI
HuRef246,866,270 - 46,906,310 (-)NCBIHuRef
CHM1_1247,059,303 - 47,099,278 (-)NCBICHM1_1
T2T-CHM13v2.0246,906,646 - 46,946,631 (-)NCBIT2T-CHM13v2.0
Mcfd2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391787,561,871 - 87,573,382 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1787,561,871 - 87,573,363 (-)EnsemblGRCm39 Ensembl
GRCm381787,254,443 - 87,265,947 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1787,254,443 - 87,265,935 (-)EnsemblGRCm38mm10GRCm38
MGSCv371787,653,783 - 87,665,287 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361787,162,769 - 87,174,241 (-)NCBIMGSCv36mm8
Celera1791,645,568 - 91,657,364 (-)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1757.06NCBI
Mcfd2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8613,028,036 - 13,039,388 (+)NCBIGRCr8
mRatBN7.267,274,469 - 7,285,841 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl67,274,469 - 7,285,841 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx67,555,619 - 7,566,928 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.067,865,043 - 7,876,352 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.067,392,168 - 7,403,477 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0610,887,303 - 10,899,221 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl610,887,288 - 10,899,200 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0620,875,389 - 20,887,306 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4610,763,516 - 10,774,854 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1610,763,515 - 10,774,854 (-)NCBI
Celera67,023,091 - 7,034,429 (+)NCBICelera
Cytogenetic Map6q12NCBI
Mcfd2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544113,764,144 - 13,777,628 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544113,766,683 - 13,776,305 (-)NCBIChiLan1.0ChiLan1.0
MCFD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21279,473,963 - 79,488,153 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A79,477,946 - 79,492,124 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A47,012,550 - 47,031,725 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A47,950,679 - 47,962,005 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A47,950,679 - 47,987,407 (-)Ensemblpanpan1.1panPan2
Mcfd2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629233,963,670 - 33,991,418 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365085,410,674 - 5,420,012 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365085,392,275 - 5,419,267 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MCFD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl393,620,936 - 93,633,015 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1393,620,921 - 93,633,018 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2399,712,888 - 99,719,379 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MCFD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11460,273,274 - 60,283,919 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1460,273,296 - 60,287,200 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604551,560,975 - 51,572,057 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mcfd2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473828,324,894 - 28,337,730 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473828,325,154 - 28,333,241 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MCFD2
144 total Variants

Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system reproductive system respiratory system adipose tissue
High
Medium 5 5 22 6 6 6 6 6 12 10 6
Low 8
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSCAFT00000049524   ⟹   ENSCAFP00000037469
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl1049,092,908 - 49,101,775 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845049827   ⟹   ENSCAFP00845039076
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl1049,961,874 - 50,001,189 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845049852   ⟹   ENSCAFP00845039098
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl1049,961,874 - 49,973,048 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845049893   ⟹   ENSCAFP00845039126
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl1049,961,874 - 49,971,931 (-)Ensembl
RefSeq Acc Id: ENSCAFT00845049914   ⟹   ENSCAFP00845039144
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl1049,963,608 - 49,972,019 (-)Ensembl
RefSeq Acc Id: XM_005626084   ⟹   XP_005626141
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.11049,091,466 - 49,101,486 (-)NCBI
Dog10K_Boxer_Tasha1048,944,989 - 48,955,077 (-)NCBI
Sequence:
RefSeq Acc Id: XM_038489223   ⟹   XP_038345151
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.11049,669,845 - 49,680,077 (-)NCBI
RefSeq Acc Id: XM_038489224   ⟹   XP_038345152
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UMICH_Zoey_3.11049,669,845 - 49,679,806 (-)NCBI
RefSeq Acc Id: XM_038551225   ⟹   XP_038407153
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.01050,143,441 - 50,153,684 (-)NCBI
RefSeq Acc Id: XM_038551226   ⟹   XP_038407154
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UU_Cfam_GSD_1.01050,143,441 - 50,153,411 (-)NCBI
RefSeq Acc Id: XM_038615122   ⟹   XP_038471050
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.01049,959,594 - 49,969,896 (-)NCBI
RefSeq Acc Id: XM_038615123   ⟹   XP_038471051
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
UNSW_CanFamBas_1.01049,959,594 - 49,969,622 (-)NCBI
RefSeq Acc Id: XM_038680507   ⟹   XP_038536435
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01049,961,866 - 49,972,101 (-)NCBI
RefSeq Acc Id: XM_038680508   ⟹   XP_038536436
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.01049,961,866 - 49,971,830 (-)NCBI
RefSeq Acc Id: XM_531811   ⟹   XP_531811
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.11049,091,466 - 49,101,769 (-)NCBI
Dog10K_Boxer_Tasha1048,944,989 - 48,955,352 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: XP_531811   ⟸   XM_531811
- UniProtKB: A0A8C0LR86 (UniProtKB/TrEMBL),   A0A8P0TNV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005626141   ⟸   XM_005626084
- UniProtKB: A0A8C0LR86 (UniProtKB/TrEMBL),   A0A8P0TNV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSCAFP00000037469   ⟸   ENSCAFT00000049524
RefSeq Acc Id: XP_038345151   ⟸   XM_038489223
RefSeq Acc Id: XP_038345152   ⟸   XM_038489224
RefSeq Acc Id: XP_038471050   ⟸   XM_038615122
RefSeq Acc Id: XP_038471051   ⟸   XM_038615123
RefSeq Acc Id: XP_038536435   ⟸   XM_038680507
- UniProtKB: A0A8C0LR86 (UniProtKB/TrEMBL),   A0A8P0TNV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038536436   ⟸   XM_038680508
- UniProtKB: A0A8C0LR86 (UniProtKB/TrEMBL),   A0A8P0TNV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038407153   ⟸   XM_038551225
- UniProtKB: A0A8C0LR86 (UniProtKB/TrEMBL),   A0A8P0TNV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_038407154   ⟸   XM_038551226
- UniProtKB: A0A8C0LR86 (UniProtKB/TrEMBL),   A0A8P0TNV6 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSCAFP00845039076   ⟸   ENSCAFT00845049827
RefSeq Acc Id: ENSCAFP00845039144   ⟸   ENSCAFT00845049914
RefSeq Acc Id: ENSCAFP00845039098   ⟸   ENSCAFT00845049852
RefSeq Acc Id: ENSCAFP00845039126   ⟸   ENSCAFT00845049893
Protein Domains
EF-hand


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000032480 Ensembl
  ENSCAFG00000052675 UniProtKB/TrEMBL
  ENSCAFG00030010665 UniProtKB/TrEMBL
  ENSCAFG00040009517 UniProtKB/TrEMBL
  ENSCAFG00845028228 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENSCAFT00000049524.3 UniProtKB/TrEMBL
  ENSCAFT00000094461.1 UniProtKB/TrEMBL
  ENSCAFT00000094623.1 UniProtKB/TrEMBL
  ENSCAFT00000101755.1 UniProtKB/TrEMBL
  ENSCAFT00030019767.1 UniProtKB/TrEMBL
  ENSCAFT00030019884.1 UniProtKB/TrEMBL
  ENSCAFT00040017769.1 UniProtKB/TrEMBL
  ENSCAFT00040017931.1 UniProtKB/TrEMBL
  ENSCAFT00845049827.1 UniProtKB/TrEMBL
  ENSCAFT00845049852.1 UniProtKB/TrEMBL
  ENSCAFT00845049893.1 UniProtKB/TrEMBL
  ENSCAFT00845049914.1 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/TrEMBL
InterPro EF-hand-dom_pair UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/TrEMBL
NCBI Gene MCFD2 ENTREZGENE
PANTHER MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2 UniProtKB/TrEMBL
  MULTIPLE COAGULATION FACTOR DEFICIENCY PROTEIN 2 NEURAL STEM CELL DERIVED NEURONAL SURVIVAL PROTEIN UniProtKB/TrEMBL
Pfam EF-hand_7 UniProtKB/TrEMBL
PROSITE EF_HAND_1 UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/TrEMBL
UniProt A0A8C0LR86 ENTREZGENE
  A0A8C0S3J7_CANLF UniProtKB/TrEMBL
  A0A8C0S457_CANLF UniProtKB/TrEMBL
  A0A8I3PVF8_CANLF UniProtKB/TrEMBL
  A0A8I3Q3Y7_CANLF UniProtKB/TrEMBL
  A0A8I3Q4S5_CANLF UniProtKB/TrEMBL
  A0A8I3QKY0_CANLF UniProtKB/TrEMBL
  A0A8P0TNV6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8P0TV21_CANLF UniProtKB/TrEMBL
VGNC ID VGNC:43075 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-10-29 MCFD2  multiple coagulation factor deficiency 2, ER cargo receptor complex subunit  MCFD2  multiple coagulation factor deficiency 2  Symbol and/or name change 5135510 APPROVED