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UniProtKB - Q8NI22 (MCFD2_HUMAN)

Entry version 158 (02 Dec 2020)
Sequence version 1 (01 Oct 2002)
Previous versions | rss
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Protein

Multiple coagulation factor deficiency protein 2

Gene

MCFD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi81 – 921Add BLAST12
Calcium bindingi129 – 1402Add BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processER-Golgi transport, Protein transport, Transport
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NI22

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-204005, COPII-mediated vesicle transport
R-HSA-5694530, Cargo concentration in the ER
R-HSA-948021, Transport to the Golgi and subsequent modification

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Multiple coagulation factor deficiency protein 2
Alternative name(s):
Neural stem cell-derived neuronal survival protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MCFD2
Synonyms:SDNSF
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000180398.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:18451, MCFD2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607788, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NI22

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Factor V and factor VIII combined deficiency 2 (F5F8D2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07224581D → H in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs78289603Ensembl.1
Natural variantiVAR_019076129D → E in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852913EnsemblClinVar.1
Natural variantiVAR_072246135Y → N in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs748641905Ensembl.1
Natural variantiVAR_019077136I → T in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852914EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		90411

MalaCards human disease database

More...MalaCardsi		MCFD2
MIMi613625, phenotype

Open Targets

More...OpenTargetsi		ENSG00000180398

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		35909, Combined deficiency of factor V and factor VIII

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134925788

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NI22, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB00025, Antihemophilic factor, human recombinant
DB13998, Lonoctocog alfa
DB13999, Moroctocog alfa

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MCFD2

Domain mapping of disease mutations (DMDM)

More...DMDMi		49036425

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 26Sequence analysisAdd BLAST26
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000415927 – 146Multiple coagulation factor deficiency protein 2Add BLAST120

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei106PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NI22

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NI22

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NI22

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NI22

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8NI22

PeptideAtlas

More...PeptideAtlasi		Q8NI22

PRoteomics IDEntifications database

More...PRIDEi		Q8NI22

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73813 [Q8NI22-1]
73814 [Q8NI22-2]
73815 [Q8NI22-3]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q8NI22-1 [Q8NI22-1]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8NI22, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NI22

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8NI22

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000180398, Expressed in metanephros and 258 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NI22, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NI22, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000180398, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts in a calcium-dependent manner with LMAN1.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124712, 67 interactors

Database of interacting proteins

More...DIPi		DIP-56233N

Protein interaction database and analysis system

More...IntActi		Q8NI22, 11 interactors

Molecular INTeraction database

More...MINTi		Q8NI22

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000386651

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NI22, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1146
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		Q8NI22

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8NI22

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q8NI22

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini68 – 103EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini116 – 146EF-hand 2PROSITE-ProRule annotationAdd BLAST31

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Essentially unstructured in the absence of calcium ions. Requires calcium ions for folding.1 Publication

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4065, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154141

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_100744_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NI22

Identification of Orthologs from Complete Genome Data

More...OMAi		LDRNMVQ

Database of Orthologous Groups

More...OrthoDBi		1601131at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NI22

TreeFam database of animal gene trees

More...TreeFami		TF315801

Family and domain databases

Database of protein disorder

More...DisProti		DP01637

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13499, EF-hand_7, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47473, SSF47473, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00018, EF_HAND_1, 2 hits
PS50222, EF_HAND_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NI22-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTMRSLLRTP FLCGLLWAFC APGARAEEPA ASFSQPGSMG LDKNTVHDQE 
        60         70         80         90        100
HIMEHLEGVI NKPEAEMSPQ ELQLHYFKMH DYDGNNLLDG LELSTAITHV 
       110        120        130        140 
HKEEGSEQAP LMSEDELINI IDGVLRDDDK NNDGYIDYAE FAKSLQ
Length:146
Mass (Da):16,390
Last modified:October 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEF3F3B28E5C7A8A8
GO
Isoform 2 (identifier: Q8NI22-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.

Show »
Length:94
Mass (Da):10,718
Checksum:iE347C6712D349696
GO
Isoform 3 (identifier: Q8NI22-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: MTMRSLLRTP...LDKNTVHDQE → MLSVCSCRTSSGMRSQWPSARQRSSSLSTFR

Show »
Length:127
Mass (Da):14,431
Checksum:iFE9714228D2C4B0E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IU18A0A3B3IU18_HUMAN
Multiple coagulation factor deficie...
MCFD2
109Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JTR4C9JTR4_HUMAN
Multiple coagulation factor deficie...
MCFD2
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BZ18H7BZ18_HUMAN
Multiple coagulation factor deficie...
MCFD2
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAD38756 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07224581D → H in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs78289603Ensembl.1
Natural variantiVAR_019076129D → E in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852913EnsemblClinVar.1
Natural variantiVAR_072246135Y → N in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs748641905Ensembl.1
Natural variantiVAR_019077136I → T in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852914EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0438151 – 52Missing in isoform 2. 2 PublicationsAdd BLAST52
Alternative sequenceiVSP_0438141 – 50MTMRS…VHDQE → MLSVCSCRTSSGMRSQWPSA RQRSSSLSTFR in isoform 3. CuratedAdd BLAST50

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF475284 mRNA Translation: AAM28465.1
AF537214 mRNA Translation: AAP23162.1
AK292127 mRNA Translation: BAF84816.1
AL833900 mRNA Translation: CAD38756.1 Different initiation.
CR749562 mRNA Translation: CAH18359.1
AC016722 Genomic DNA Translation: AAY15013.1
AC093732 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00230.1
CH471053 Genomic DNA Translation: EAX00231.1
CH471053 Genomic DNA Translation: EAX00232.1
CH471053 Genomic DNA Translation: EAX00233.1
BC037845 mRNA Translation: AAH37845.1
BC040357 mRNA Translation: AAH40357.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33192.1 [Q8NI22-1]
CCDS54354.1 [Q8NI22-2]
CCDS54355.1 [Q8NI22-3]

Protein sequence database of the Protein Information Resource

More...PIRi		JS0027

NCBI Reference Sequences

More...RefSeqi		NP_001164977.1, NM_001171506.2 [Q8NI22-1]
NP_001164978.1, NM_001171507.2 [Q8NI22-1]
NP_001164979.1, NM_001171508.2 [Q8NI22-1]
NP_001164980.1, NM_001171509.2 [Q8NI22-2]
NP_001164981.1, NM_001171510.2 [Q8NI22-2]
NP_001164982.1, NM_001171511.2 [Q8NI22-3]
NP_644808.1, NM_139279.5 [Q8NI22-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000319466; ENSP00000317271; ENSG00000180398 [Q8NI22-1]
ENST00000409105; ENSP00000386651; ENSG00000180398 [Q8NI22-1]
ENST00000409147; ENSP00000387082; ENSG00000180398 [Q8NI22-2]
ENST00000409207; ENSP00000386386; ENSG00000180398 [Q8NI22-1]
ENST00000409218; ENSP00000386261; ENSG00000180398 [Q8NI22-1]
ENST00000409800; ENSP00000387202; ENSG00000180398 [Q8NI22-2]
ENST00000409913; ENSP00000386941; ENSG00000180398 [Q8NI22-2]
ENST00000409973; ENSP00000386279; ENSG00000180398 [Q8NI22-1]
ENST00000412438; ENSP00000402717; ENSG00000180398 [Q8NI22-1]
ENST00000444761; ENSP00000394647; ENSG00000180398 [Q8NI22-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		90411

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:90411

UCSC genome browser

More...UCSCi		uc002rvk.4, human [Q8NI22-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF475284 mRNA Translation: AAM28465.1
AF537214 mRNA Translation: AAP23162.1
AK292127 mRNA Translation: BAF84816.1
AL833900 mRNA Translation: CAD38756.1 Different initiation.
CR749562 mRNA Translation: CAH18359.1
AC016722 Genomic DNA Translation: AAY15013.1
AC093732 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00230.1
CH471053 Genomic DNA Translation: EAX00231.1
CH471053 Genomic DNA Translation: EAX00232.1
CH471053 Genomic DNA Translation: EAX00233.1
BC037845 mRNA Translation: AAH37845.1
BC040357 mRNA Translation: AAH40357.1
CCDSiCCDS33192.1 [Q8NI22-1]
CCDS54354.1 [Q8NI22-2]
CCDS54355.1 [Q8NI22-3]
PIRiJS0027
RefSeqiNP_001164977.1, NM_001171506.2 [Q8NI22-1]
NP_001164978.1, NM_001171507.2 [Q8NI22-1]
NP_001164979.1, NM_001171508.2 [Q8NI22-1]
NP_001164980.1, NM_001171509.2 [Q8NI22-2]
NP_001164981.1, NM_001171510.2 [Q8NI22-2]
NP_001164982.1, NM_001171511.2 [Q8NI22-3]
NP_644808.1, NM_139279.5 [Q8NI22-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VRGNMR-A27-146[»]
3A4UX-ray1.84B27-146[»]
3LCPX-ray2.45C/D58-146[»]
3WHTX-ray1.80B67-146[»]
3WHUX-ray2.60B67-146[»]
3WNXX-ray2.75B67-146[»]
4YGBX-ray1.60B/D67-146[»]
4YGCX-ray2.40B/D/F/H67-146[»]
4YGDX-ray2.51B/D/F/H67-146[»]
4YGEX-ray3.05B/D/F27-146[»]
BMRBiQ8NI22
SMRiQ8NI22
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi124712, 67 interactors
DIPiDIP-56233N
IntActiQ8NI22, 11 interactors
MINTiQ8NI22
STRINGi9606.ENSP00000386651

Chemistry databases

DrugBankiDB00025, Antihemophilic factor, human recombinant
DB13998, Lonoctocog alfa
DB13999, Moroctocog alfa

PTM databases

GlyGeniQ8NI22, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ8NI22
PhosphoSitePlusiQ8NI22

Polymorphism and mutation databases

BioMutaiMCFD2
DMDMi49036425

Proteomic databases

EPDiQ8NI22
jPOSTiQ8NI22
MassIVEiQ8NI22
MaxQBiQ8NI22
PaxDbiQ8NI22
PeptideAtlasiQ8NI22
PRIDEiQ8NI22
ProteomicsDBi73813 [Q8NI22-1]
73814 [Q8NI22-2]
73815 [Q8NI22-3]
TopDownProteomicsiQ8NI22-1 [Q8NI22-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29996, 178 antibodies

The DNASU plasmid repository

More...DNASUi		90411

Genome annotation databases

EnsembliENST00000319466; ENSP00000317271; ENSG00000180398 [Q8NI22-1]
ENST00000409105; ENSP00000386651; ENSG00000180398 [Q8NI22-1]
ENST00000409147; ENSP00000387082; ENSG00000180398 [Q8NI22-2]
ENST00000409207; ENSP00000386386; ENSG00000180398 [Q8NI22-1]
ENST00000409218; ENSP00000386261; ENSG00000180398 [Q8NI22-1]
ENST00000409800; ENSP00000387202; ENSG00000180398 [Q8NI22-2]
ENST00000409913; ENSP00000386941; ENSG00000180398 [Q8NI22-2]
ENST00000409973; ENSP00000386279; ENSG00000180398 [Q8NI22-1]
ENST00000412438; ENSP00000402717; ENSG00000180398 [Q8NI22-1]
ENST00000444761; ENSP00000394647; ENSG00000180398 [Q8NI22-3]
GeneIDi90411
KEGGihsa:90411
UCSCiuc002rvk.4, human [Q8NI22-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		90411
DisGeNETi90411
EuPathDBiHostDB:ENSG00000180398.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		MCFD2
HGNCiHGNC:18451, MCFD2
HPAiENSG00000180398, Low tissue specificity
MalaCardsiMCFD2
MIMi607788, gene
613625, phenotype
neXtProtiNX_Q8NI22
OpenTargetsiENSG00000180398
Orphaneti35909, Combined deficiency of factor V and factor VIII
PharmGKBiPA134925788

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4065, Eukaryota
GeneTreeiENSGT00940000154141
HOGENOMiCLU_100744_2_0_1
InParanoidiQ8NI22
OMAiLDRNMVQ
OrthoDBi1601131at2759
PhylomeDBiQ8NI22
TreeFamiTF315801

Enzyme and pathway databases

PathwayCommonsiQ8NI22
ReactomeiR-HSA-204005, COPII-mediated vesicle transport
R-HSA-5694530, Cargo concentration in the ER
R-HSA-948021, Transport to the Golgi and subsequent modification

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		90411, 4 hits in 840 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MCFD2, human
EvolutionaryTraceiQ8NI22

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MCFD2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		90411
PharosiQ8NI22, Tbio

Protein Ontology

More...PROi		PR:Q8NI22
RNActiQ8NI22, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000180398, Expressed in metanephros and 258 other tissues
ExpressionAtlasiQ8NI22, baseline and differential
GenevisibleiQ8NI22, HS

Family and domain databases

DisProtiDP01637
InterProiView protein in InterPro
IPR011992, EF-hand-dom_pair
IPR018247, EF_Hand_1_Ca_BS
IPR002048, EF_hand_dom
PfamiView protein in Pfam
PF13499, EF-hand_7, 1 hit
SUPFAMiSSF47473, SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018, EF_HAND_1, 2 hits
PS50222, EF_HAND_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMCFD2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NI22
Secondary accession number(s): A8K7W2
, D6W5A9, E9PD95, Q53SS3, Q68D61, Q8N3M5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 21, 2004
Last sequence update: October 1, 2002
Last modified: December 2, 2020
This is version 158 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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