KEGG   Homo sapiens (human): 90411Help
Entry
90411             CDS       T01001                                 

Gene name
MCFD2, F5F8D, F5F8D2, LMAN1IP, SDNSF
Definition
(RefSeq) multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
  KO
K20364  multiple coagulation factor deficiency protein 2
Organism
hsa  Homo sapiens (human)
Disease
H00221  Combined deficiency of factors V and VIII
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    90411 (MCFD2)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Forward pathways
   ER-Golgi intermediate compartment (ERGIC) proteins
    90411 (MCFD2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: EF-hand_6 EF-hand_7 EF-hand_1 EF-hand_5 EF-hand_8
Motif
Other DBs
NCBI-GeneID: 90411
NCBI-ProteinID: NP_001164977
OMIM: 607788
HGNC: 18451
Ensembl: ENSG00000180398
Vega: OTTHUMG00000153100
Pharos: Q8NI22(Tbio)
UniProt: Q8NI22
Structure
PDB: 

Position
2p21
AA seq 146 aa AA seqDB search
MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVI
NKPEAEMSPQELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINI
IDGVLRDDDKNNDGYIDYAEFAKSLQ
NT seq 441 nt NT seq  +upstreamnt  +downstreamnt
atgaccatgagatccctgctcagaacccccttcctgtgtggcctgctctgggccttttgt
gccccaggcgccagggctgaggagcctgcagccagcttctcccaacccggcagcatgggc
ctggataagaacacagtgcacgaccaagagcatatcatggagcatctagaaggtgtcatc
aacaaaccagaggcggagatgtcgccacaagaattgcagctccattacttcaaaatgcat
gattatgatggcaataatttgcttgatggcttagaactctccacagccatcactcatgtc
cataaggaggaagggagtgaacaggcaccactaatgagtgaagatgaactgattaacata
atagatggtgttttgagagatgatgacaagaacaatgatggatacattgactatgctgaa
tttgcaaaatcactgcagtag

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