Version 5.4
| Bos taurus Gene: MCFD2 | |||||||
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| Summary | |||||||
| InnateDB Gene | IDBG-633339.3 | ||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||
| Gene Symbol | MCFD2 | ||||||
| Gene Name | multiple coagulation factor deficiency protein 2 precursor | ||||||
| Synonyms | |||||||
| Species | Bos taurus | ||||||
| Ensembl Gene | ENSBTAG00000003358 | ||||||
| Encoded Proteins |
MCFD2 proteinUncharacterized protein
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| Protein Structure | |||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||
| Entrez Gene | |||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000180398:
This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010] |
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| Gene Information | |||||||
| Type | Protein coding | ||||||
| Genomic Location | Chromosome 11:29200743-29210371 | ||||||
| Strand | Reverse strand | ||||||
| Band | |||||||
| Transcripts |
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| Interactions | |||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||
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Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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| Pathway Predictions based on Human Orthology Data | |||||||
| NETPATH | |||||||
| REACTOME |
Transport to the Golgi and subsequent modification pathway
Asparagine N-linked glycosylation pathway
Post-translational protein modification pathway
Metabolism of proteins pathway
Transport to the Golgi and subsequent modification pathway
Metabolism of proteins pathway
Post-translational protein modification pathway
Asparagine N-linked glycosylation pathway
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| KEGG | |||||||
| INOH | |||||||
| PID NCI | |||||||
| Cross-References | |||||||
| SwissProt | |||||||
| TrEMBL | A6QQ22 F6PZ29 Q3MHJ4 | ||||||
| UniProt Splice Variant | |||||||
| Entrez Gene | 616647 | ||||||
| UniGene | Bt.110407 Bt.61911 | ||||||
| RefSeq | NM_001040595 XM_005194863 XM_005212679 XM_005212680 XM_005212682 XM_005217207 | ||||||
| HUGO | |||||||
| OMIM | |||||||
| CCDS | |||||||
| HPRD | |||||||
| IMGT | |||||||
| EMBL | BC105216 BC149602 DAAA02030733 | ||||||
| GenPept | AAI05217 AAI49603 | ||||||
| RNA Seq Atlas | 507787 616647 | ||||||