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Protein

Fanconi anemia group D2 protein

Gene

FANCD2

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

Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.13 Publications

<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

  • DNA polymerase binding Source: UniProtKB

GO - Biological processi

<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 processCell cycle, DNA damage, DNA repair

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6783310 Fanconi Anemia Pathway
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9BXW9

<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_and_taxonomy_section">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:
Fanconi anemia group D2 protein
Short name:
Protein FACD2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:FANCD2
Synonyms:FACD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000144554.10

Human Gene Nomenclature Database

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HGNCi
HGNC:3585 FANCD2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613984 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9BXW9

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<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

Fanconi anemia complementation group D2 (FANCD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
See also OMIM:227646
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_022559126S → G in FANCD2. Corresponds to variant dbSNP:rs764507146Ensembl.1
Natural variantiVAR_022560302R → W in FANCD2. 1 PublicationCorresponds to variant dbSNP:rs121917787EnsemblClinVar.1
Natural variantiVAR_0225621236R → H in FANCD2; no effect on ubiquitination. 1 PublicationCorresponds to variant dbSNP:rs121917786EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi222S → A: Reduces phosphorylation by ATM. No effect on ubiquitination, foci formation or DNA repair ability, but impairs S-phase checkpoint activation. 2 Publications1
Mutagenesisi561K → R: Abolishes ubiquitination; impairs chromatin binding, foci formation and DNA repair. Abolishes interaction with MTMR15/FAN1. No effect on S-222 phosphorylation by ATM. 9 Publications1
Mutagenesisi1257S → A: No effect on phosphorylation by ATM. 1 Publication1
Mutagenesisi1401S → A: Reduces phosphorylation by ATM; when associated with A-1404 and A-1418. 1 Publication1
Mutagenesisi1404S → A: Reduces phosphorylation by ATM; when associated with A-1401 and A-1418. 1 Publication1
Mutagenesisi1418S → A: Reduces phosphorylation by ATM; when associated with A-1401 and A-1404. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNET

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DisGeNETi
2177

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
FANCD2

MalaCards human disease database

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MalaCardsi
FANCD2
MIMi227646 phenotype

Open Targets

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OpenTargetsi
ENSG00000144554

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

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Orphaneti
84 Fanconi anemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27999

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2157857

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FANCD2

Domain mapping of disease mutations (DMDM)

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DMDMi
67461071

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000871681 – 1451Fanconi anemia group D2 proteinAdd BLAST1451

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 residuei8PhosphoserineCombined sources1
Modified residuei222Phosphoserine; by ATM1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki561Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)5 Publications
Modified residuei592PhosphoserineCombined sources1
Modified residuei594PhosphoserineCombined sources1
Modified residuei717PhosphoserineCombined sources1
Modified residuei1257PhosphoserineCombined sources1
Modified residuei1401Phosphoserine; by ATMCurated1
Modified residuei1404Phosphoserine; by ATM1 Publication1
Modified residuei1412PhosphoserineCombined sources1
Modified residuei1423PhosphoserineCombined sources1
Modified residuei1426PhosphothreonineCombined sources1
Modified residuei1435PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress by FANCL in complex with E2 ligases UBE2T or UBE2W (isoform 1 and isoform 2). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the joint intervention of the FANC core complex, including FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, and FANCM, and proteins involved in cell cycle checkpoints and DNA repair, including RPA1, ATR, CHEK1 and BRCA1, and is mediated by FANCL/PHF9. Ubiquitination is required for binding to chromatin, interaction with BRCA1, BRCA2 and MTMR15/FAN1, DNA repair, and normal cell cycle progression, but not for phosphorylation on Ser-222 or interaction with MEN1.7 Publications
Phosphorylated in response to various genotoxic stresses by ATM and/or ATR. Upon ionizing radiation, phosphorylated by ATM on Ser-222 and Ser-1404. Phosphorylation on Ser-222 is required for S-phase checkpoint activation, but not for ubiquitination, foci formation, or DNA repair. In contrast, phosphorylation by ATR on other sites may be required for ubiquitination and foci formation.2 Publications

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9BXW9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BXW9

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

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PaxDbi
Q9BXW9

PeptideAtlas

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PeptideAtlasi
Q9BXW9

PRoteomics IDEntifications database

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PRIDEi
Q9BXW9

ProteomicsDB human proteome resource

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ProteomicsDBi
79531
79532
79533 [Q9BXW9-3]
79534 [Q9BXW9-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9BXW9

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

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PhosphoSitePlusi
Q9BXW9

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix. Expressed in cytotrophoblastic cells of the placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes.3 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Highly expressed in fetal oocytes, and in hematopoietic cells of the fetal liver and bone marrow (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000144554 Expressed in 145 organ(s), highest expression level in female gonad

CleanEx database of gene expression profiles

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CleanExi
HS_FANCD2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BXW9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BXW9 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB016117
HPA063742

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1 and BLM. Both the nonubiquitinated and the monoubiquitinated forms interact with BRCA2; this interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3. The ubiquitinated form specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit MTMR15/FAN1 to sites of DNA damage. Interacts with DCLRE1B/Apollo (PubMed:11239454, PubMed:12093742, PubMed:12649160, PubMed:12874027, PubMed:15115758, PubMed:15199141, PubMed:15257300, PubMed:15694335, PubMed:17412408, PubMed:17460694, PubMed:18212739, PubMed:18469862, PubMed:20603015, PubMed:20603016, PubMed:20603073). Interacts with POLN (PubMed:19995904).16 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108474, 117 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9BXW9

Database of interacting proteins

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DIPi
DIP-27606N
DIP-29382N

Protein interaction database and analysis system

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IntActi
Q9BXW9, 45 interactors

Molecular INTeraction database

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MINTi
Q9BXW9

STRING: functional protein association networks

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STRINGi
9606.ENSP00000287647

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9BXW9

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

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SMRi
Q9BXW9

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 291Interaction with FANCEAdd BLAST291
Regioni248 – 359Interaction with BRCA2Add BLAST112

<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

The C-terminal 24 residues of isoform 2 are required for its function.

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4712 Eukaryota
ENOG410XT6B LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016970

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000060189

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG060904

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BXW9

KEGG Orthology (KO)

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KOi
K10891

Identification of Orthologs from Complete Genome Data

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OMAi
NFLMIDF

Database of Orthologous Groups

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OrthoDBi
979208at2759

TreeFam database of animal gene trees

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TreeFami
TF101106

Family and domain databases

Conserved Domains Database

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CDDi
cd11721 FANCD2, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR029448 FANCD2

The PANTHER Classification System

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PANTHERi
PTHR32086 PTHR32086, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14631 FancD2, 1 hit

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

This entry describes 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: Q9BXW9-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MVSKRRLSKS EDKESLTEDA SKTRKQPLSK KTKKSHIANE VEENDSIFVK
60 70 80 90 100
LLKISGIILK TGESQNQLAV DQIAFQKKLF QTLRRHPSYP KIIEEFVSGL
110 120 130 140 150
ESYIEDEDSF RNCLLSCERL QDEEASMGAS YSKSLIKLLL GIDILQPAII
160 170 180 190 200
KTLFEKLPEY FFENKNSDEI NIPRLIVSQL KWLDRVVDGK DLTTKIMQLI
210 220 230 240 250
SIAPENLQHD IITSLPEILG DSQHADVGKE LSDLLIENTS LTVPILDVLS
260 270 280 290 300
SLRLDPNFLL KVRQLVMDKL SSIRLEDLPV IIKFILHSVT AMDTLEVISE
310 320 330 340 350
LREKLDLQHC VLPSRLQASQ VKLKSKGRAS SSGNQESSGQ SCIILLFDVI
360 370 380 390 400
KSAIRYEKTI SEAWIKAIEN TASVSEHKVF DLVMLFIIYS TNTQTKKYID
410 420 430 440 450
RVLRNKIRSG CIQEQLLQST FSVHYLVLKD MCSSILSLAQ SLLHSLDQSI
460 470 480 490 500
ISFGSLLYKY AFKFFDTYCQ QEVVGALVTH ICSGNEAEVD TALDVLLELV
510 520 530 540 550
VLNPSAMMMN AVFVKGILDY LDNISPQQIR KLFYVLSTLA FSKQNEASSH
560 570 580 590 600
IQDDMHLVIR KQLSSTVFKY KLIGIIGAVT MAGIMAADRS ESPSLTQERA
610 620 630 640 650
NLSDEQCTQV TSLLQLVHSC SEQSPQASAL YYDEFANLIQ HEKLDPKALE
660 670 680 690 700
WVGHTICNDF QDAFVVDSCV VPEGDFPFPV KALYGLEEYD TQDGIAINLL
710 720 730 740 750
PLLFSQDFAK DGGPVTSQES GQKLVSPLCL APYFRLLRLC VERQHNGNLE
760 770 780 790 800
EIDGLLDCPI FLTDLEPGEK LESMSAKERS FMCSLIFLTL NWFREIVNAF
810 820 830 840 850
CQETSPEMKG KVLTRLKHIV ELQIILEKYL AVTPDYVPPL GNFDVETLDI
860 870 880 890 900
TPHTVTAISA KIRKKGKIER KQKTDGSKTS SSDTLSEEKN SECDPTPSHR
910 920 930 940 950
GQLNKEFTGK EEKTSLLLHN SHAFFRELDI EVFSILHCGL VTKFILDTEM
960 970 980 990 1000
HTEATEVVQL GPPELLFLLE DLSQKLESML TPPIARRVPF LKNKGSRNIG
1010 1020 1030 1040 1050
FSHLQQRSAQ EIVHCVFQLL TPMCNHLENI HNYFQCLAAE NHGVVDGPGV
1060 1070 1080 1090 1100
KVQEYHIMSS CYQRLLQIFH GLFAWSGFSQ PENQNLLYSA LHVLSSRLKQ
1110 1120 1130 1140 1150
GEHSQPLEEL LSQSVHYLQN FHQSIPSFQC ALYLIRLLMV ILEKSTASAQ
1160 1170 1180 1190 1200
NKEKIASLAR QFLCRVWPSG DKEKSNISND QLHALLCIYL EHTESILKAI
1210 1220 1230 1240 1250
EEIAGVGVPE LINSPKDASS STFPTLTRHT FVVFFRVMMA ELEKTVKKIE
1260 1270 1280 1290 1300
PGTAADSQQI HEEKLLYWNM AVRDFSILIN LIKVFDSHPV LHVCLKYGRL
1310 1320 1330 1340 1350
FVEAFLKQCM PLLDFSFRKH REDVLSLLET FQLDTRLLHH LCGHSKIHQD
1360 1370 1380 1390 1400
TRLTQHVPLL KKTLELLVCR VKAMLTLNNC REAFWLGNLK NRDLQGEEIK
1410 1420 1430 1440 1450
SQNSQESTAD ESEDDMSSQA SKSKATEDGE EDEVSAGEKE QDSDESYDDS

D
Length:1,451
Mass (Da):164,128
Last modified:November 26, 2014 - v2
<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:iBF931980ADA67405
GO
Isoform 1 (identifier: Q9BXW9-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1428-1451: DGEEDEVSAGEKEQDSDESYDDSD → VSLQNPPESGTDGCILLIVLSWWSRTLPTYVYCQMLLCPFPFPP

Note: Less abundant than isoform 2, may be not functional.
Show »
Length:1,471
Mass (Da):166,462
Checksum:i4F74873A1D45A9AE
GO
Isoform 3 (identifier: Q9BXW9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1229-1249: HTFVVFFRVMMAELEKTVKKI → FMKRNSSTGTWLFETSVSSST
     1250-1451: Missing.

Note: No experimental confirmation available.
Show »
Length:1,249
Mass (Da):140,737
Checksum:iEAA0E12DE9F079D1
GO
Isoform 4 (identifier: Q9BXW9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     232-241: SDLLIENTSL → RWINPLSSSK
     242-1451: Missing.

Note: No experimental confirmation available.
Show »
Length:241
Mass (Da):27,501
Checksum:i4078C6A54D083DDE
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7BZJ7H7BZJ7_HUMAN
Fanconi anemia group D2 protein
FANCD2
749Annotation 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>
F8WE37F8WE37_HUMAN
Fanconi anemia group D2 protein
FANCD2
38Annotation 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 BAB14132 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti257N → D in BAB14132 (PubMed:14702039).Curated1
Sequence conflicti557L → S in BAB14132 (PubMed:14702039).Curated1
Sequence conflicti589R → G in BAB14132 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02582733K → R1 PublicationCorresponds to variant dbSNP:rs34691009Ensembl.1
Natural variantiVAR_02582861T → M1 PublicationCorresponds to variant dbSNP:rs35110529EnsemblClinVar.1
Natural variantiVAR_02582965Q → H1 PublicationCorresponds to variant dbSNP:rs36084488EnsemblClinVar.1
Natural variantiVAR_022559126S → G in FANCD2. Corresponds to variant dbSNP:rs764507146Ensembl.1
Natural variantiVAR_025830172I → M1 PublicationCorresponds to variant dbSNP:rs35173688EnsemblClinVar.1
Natural variantiVAR_025831193T → A1 PublicationCorresponds to variant dbSNP:rs34936017EnsemblClinVar.1
Natural variantiVAR_022560302R → W in FANCD2. 1 PublicationCorresponds to variant dbSNP:rs121917787EnsemblClinVar.1
Natural variantiVAR_025832328R → Q1 PublicationCorresponds to variant dbSNP:rs35625434EnsemblClinVar.1
Natural variantiVAR_025833446L → V1 PublicationCorresponds to variant dbSNP:rs34557223EnsemblClinVar.1
Natural variantiVAR_025834456L → R1 PublicationCorresponds to variant dbSNP:rs35782247EnsemblClinVar.1
Natural variantiVAR_025835623Q → P1 PublicationCorresponds to variant dbSNP:rs36070315EnsemblClinVar.1
Natural variantiVAR_022561714P → L Common polymorphism. Combined sources2 PublicationsCorresponds to variant dbSNP:rs3864017EnsemblClinVar.1
Natural variantiVAR_025836865K → R1 PublicationCorresponds to variant dbSNP:rs35546777Ensembl.1
Natural variantiVAR_025837901G → V1 PublicationCorresponds to variant dbSNP:rs35495399EnsemblClinVar.1
Natural variantiVAR_0225621236R → H in FANCD2; no effect on ubiquitination. 1 PublicationCorresponds to variant dbSNP:rs121917786EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_013883232 – 241SDLLIENTSL → RWINPLSSSK in isoform 4. 1 Publication10
Alternative sequenceiVSP_013884242 – 1451Missing in isoform 4. 1 PublicationAdd BLAST1210
Alternative sequenceiVSP_0138851229 – 1249HTFVV…TVKKI → FMKRNSSTGTWLFETSVSSS T in isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_0138861250 – 1451Missing in isoform 3. 1 PublicationAdd BLAST202
Alternative sequenceiVSP_0571981428 – 1451DGEED…YDDSD → VSLQNPPESGTDGCILLIVL SWWSRTLPTYVYCQMLLCPF PFPP in isoform 1. Add BLAST24

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
AF230336 mRNA Translation: AAL05980.1
AF273251
, AF273222, AF273223, AF273227, AF273231, AF273235, AF273243, AF273241, AF273239, AF273245, AF273246, AF273247, AF273248, AF273249, AF273250, AF273236, AF273237, AF273238, AF273224, AF273226, AF273228, AF273230, AF273232, AF273234, AF273240, AF273242, AF273244, AF273233, AF273229, AF273225 Genomic DNA Translation: AAK18772.1
AF273251
, AF273222, AF273223, AF273224, AF273225, AF273226, AF273227, AF273228, AF273229, AF273230, AF273231, AF273232, AF273233, AF273234, AF273235, AF273236, AF273237, AF273238, AF273239, AF273240, AF273241, AF273242, AF273243, AF273244, AF273245, AF273246, AF273247, AF273248, AF273249, AF273250 Genomic DNA Translation: AAK18773.1
AF340183 mRNA Translation: AAK15369.1
DQ341263 Genomic DNA Translation: ABC67466.1
BC013582 mRNA Translation: AAH13582.1
AK022613 mRNA Translation: BAB14132.1 Different initiation.
AL832427 mRNA Translation: CAH10647.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2595.1 [Q9BXW9-1]
CCDS33696.1 [Q9BXW9-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001018125.1, NM_001018115.2 [Q9BXW9-2]
NP_001306913.1, NM_001319984.1 [Q9BXW9-2]
NP_149075.2, NM_033084.4 [Q9BXW9-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.208388

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000287647; ENSP00000287647; ENSG00000144554 [Q9BXW9-1]
ENST00000383807; ENSP00000373318; ENSG00000144554 [Q9BXW9-2]
ENST00000419585; ENSP00000398754; ENSG00000144554 [Q9BXW9-2]
ENST00000431693; ENSP00000399354; ENSG00000144554 [Q9BXW9-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2177

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2177

UCSC genome browser

More...
UCSCi
uc003buw.4 human [Q9BXW9-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Fanconi Anemia Mutation Database
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF230336 mRNA Translation: AAL05980.1
AF273251
, AF273222, AF273223, AF273227, AF273231, AF273235, AF273243, AF273241, AF273239, AF273245, AF273246, AF273247, AF273248, AF273249, AF273250, AF273236, AF273237, AF273238, AF273224, AF273226, AF273228, AF273230, AF273232, AF273234, AF273240, AF273242, AF273244, AF273233, AF273229, AF273225 Genomic DNA Translation: AAK18772.1
AF273251
, AF273222, AF273223, AF273224, AF273225, AF273226, AF273227, AF273228, AF273229, AF273230, AF273231, AF273232, AF273233, AF273234, AF273235, AF273236, AF273237, AF273238, AF273239, AF273240, AF273241, AF273242, AF273243, AF273244, AF273245, AF273246, AF273247, AF273248, AF273249, AF273250 Genomic DNA Translation: AAK18773.1
AF340183 mRNA Translation: AAK15369.1
DQ341263 Genomic DNA Translation: ABC67466.1
BC013582 mRNA Translation: AAH13582.1
AK022613 mRNA Translation: BAB14132.1 Different initiation.
AL832427 mRNA Translation: CAH10647.1
CCDSiCCDS2595.1 [Q9BXW9-1]
CCDS33696.1 [Q9BXW9-2]
RefSeqiNP_001018125.1, NM_001018115.2 [Q9BXW9-2]
NP_001306913.1, NM_001319984.1 [Q9BXW9-2]
NP_149075.2, NM_033084.4 [Q9BXW9-1]
UniGeneiHs.208388

3D structure databases

ProteinModelPortaliQ9BXW9
SMRiQ9BXW9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108474, 117 interactors
CORUMiQ9BXW9
DIPiDIP-27606N
DIP-29382N
IntActiQ9BXW9, 45 interactors
MINTiQ9BXW9
STRINGi9606.ENSP00000287647

Chemistry databases

ChEMBLiCHEMBL2157857

PTM databases

iPTMnetiQ9BXW9
PhosphoSitePlusiQ9BXW9

Polymorphism and mutation databases

BioMutaiFANCD2
DMDMi67461071

Proteomic databases

EPDiQ9BXW9
jPOSTiQ9BXW9
PaxDbiQ9BXW9
PeptideAtlasiQ9BXW9
PRIDEiQ9BXW9
ProteomicsDBi79531
79532
79533 [Q9BXW9-3]
79534 [Q9BXW9-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2177
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287647; ENSP00000287647; ENSG00000144554 [Q9BXW9-1]
ENST00000383807; ENSP00000373318; ENSG00000144554 [Q9BXW9-2]
ENST00000419585; ENSP00000398754; ENSG00000144554 [Q9BXW9-2]
ENST00000431693; ENSP00000399354; ENSG00000144554 [Q9BXW9-4]
GeneIDi2177
KEGGihsa:2177
UCSCiuc003buw.4 human [Q9BXW9-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2177
DisGeNETi2177
EuPathDBiHostDB:ENSG00000144554.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FANCD2
GeneReviewsiFANCD2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0003045
HGNCiHGNC:3585 FANCD2
HPAiCAB016117
HPA063742
MalaCardsiFANCD2
MIMi227646 phenotype
613984 gene
neXtProtiNX_Q9BXW9
OpenTargetsiENSG00000144554
Orphaneti84 Fanconi anemia
PharmGKBiPA27999

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4712 Eukaryota
ENOG410XT6B LUCA
GeneTreeiENSGT00390000016970
HOGENOMiHOG000060189
HOVERGENiHBG060904
InParanoidiQ9BXW9
KOiK10891
OMAiNFLMIDF
OrthoDBi979208at2759
TreeFamiTF101106

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
SIGNORiQ9BXW9

Miscellaneous databases

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

More...
ChiTaRSi
FANCD2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
FANCD2

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

More...
GenomeRNAii
2177

Protein Ontology

More...
PROi
PR:Q9BXW9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000144554 Expressed in 145 organ(s), highest expression level in female gonad
CleanExiHS_FANCD2
ExpressionAtlasiQ9BXW9 baseline and differential
GenevisibleiQ9BXW9 HS

Family and domain databases

CDDicd11721 FANCD2, 1 hit
InterProiView protein in InterPro
IPR029448 FANCD2
PANTHERiPTHR32086 PTHR32086, 1 hit
PfamiView protein in Pfam
PF14631 FancD2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiFACD2_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: Q9BXW9
Secondary accession number(s): Q2LA86
, Q69YP9, Q6PJN7, Q9BQ06, Q9H9T9
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: November 26, 2014
Last modified: January 16, 2019
This is version 167 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

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