KEGG   Homo sapiens (human): 90411
Entry
90411             CDS       T01001                                 
Symbol
MCFD2, F5F8D, F5F8D2, LMAN1IP, SDNSF
Name
(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)
SSDB
Motif
Pfam: EF-hand_7 EF-hand_6 EF-hand_1 EF-hand_5 CD99L2
Other DBs
NCBI-GeneID: 90411
NCBI-ProteinID: NP_001164977
OMIM: 607788
HGNC: 18451
Ensembl: ENSG00000180398
UniProt: Q8NI22
Structure
Position
2:complement(46901870..46941855)
AA seq 146 aa
MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVI
NKPEAEMSPQELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINI
IDGVLRDDDKNNDGYIDYAEFAKSLQ
NT seq 441 nt   +upstreamnt  +downstreamnt
atgaccatgagatccctgctcagaacccccttcctgtgtggcctgctctgggccttttgt
gccccaggcgccagggctgaggagcctgcagccagcttctcccaacccggcagcatgggc
ctggataagaacacagtgcacgaccaagagcatatcatggagcatctagaaggtgtcatc
aacaaaccagaggcggagatgtcgccacaagaattgcagctccattacttcaaaatgcat
gattatgatggcaataatttgcttgatggcttagaactctccacagccatcactcatgtc
cataaggaggaagggagtgaacaggcaccactaatgagtgaagatgaactgattaacata
atagatggtgttttgagagatgatgacaagaacaatgatggatacattgactatgctgaa
tttgcaaaatcactgcagtag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (6)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (10)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (53)   
   RefSeq(nuc) (7)   
   GenBank (23)   
   EMBL (23)   
3D Structure (10)   
   PDB (10)   
Protein domain (5)   
   Pfam (5)   
All databases (105)   

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