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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-Experimental evidence at protein leveli

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

GO - Molecular functioni

  • DNA polymerase binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell cycle, DNA damage, DNA repair

Enzyme and pathway databases

BioCyciZFISH:ENSG00000144554-MONOMER.
ReactomeiR-HSA-6783310. Fanconi Anemia Pathway.
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
SIGNORiQ9BXW9.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group D2 protein
Short name:
Protein FACD2
Gene namesi
Name:FANCD2
Synonyms:FACD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:3585. FANCD2.

Subcellular locationi

GO - Cellular componenti

  • condensed chromosome Source: GO_Central
  • cytoplasm Source: HPA
  • nucleolus Source: HPA
  • nucleoplasm Source: Reactome
  • nucleus Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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
Natural variantiVAR_022559126S → G in FANCD2. Corresponds to variant rs764507146dbSNPEnsembl.1
Natural variantiVAR_022560302R → W in FANCD2. 1 PublicationCorresponds to variant rs121917787dbSNPEnsembl.1
Natural variantiVAR_0225621236R → H in FANCD2; no effect on ubiquitination. 1 PublicationCorresponds to variant rs121917786dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi2177.
MalaCardsiFANCD2.
MIMi227646. phenotype.
OpenTargetsiENSG00000144554.
Orphaneti84. Fanconi anemia.
PharmGKBiPA27999.

Chemistry databases

ChEMBLiCHEMBL2157857.

Polymorphism and mutation databases

BioMutaiFANCD2.
DMDMi67461071.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000871681 – 1451Fanconi anemia group D2 proteinAdd BLAST1451

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei8PhosphoserineCombined sources1
Modified residuei222Phosphoserine; by ATM1 Publication1
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

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

EPDiQ9BXW9.
PaxDbiQ9BXW9.
PeptideAtlasiQ9BXW9.
PRIDEiQ9BXW9.

PTM databases

iPTMnetiQ9BXW9.
PhosphoSitePlusiQ9BXW9.

Expressioni

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

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

BgeeiENSG00000144554.
CleanExiHS_FANCD2.
ExpressionAtlasiQ9BXW9. baseline and differential.
GenevisibleiQ9BXW9. HS.

Organism-specific databases

HPAiCAB016117.
HPA063742.

Interactioni

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.15 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BRCA2P5158716EBI-359343,EBI-79792
FANCIQ9NVI12EBI-359343,EBI-1013291
FSCN1Q166586EBI-359343,EBI-351076
MEN1O002554EBI-359343,EBI-592789
MRE11AP499596EBI-359343,EBI-396513
NBNO609346EBI-359343,EBI-494844

GO - Molecular functioni

  • DNA polymerase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108474. 67 interactors.
DIPiDIP-27606N.
DIP-29382N.
IntActiQ9BXW9. 30 interactors.
MINTiMINT-190855.
STRINGi9606.ENSP00000287647.

Structurei

3D structure databases

ProteinModelPortaliQ9BXW9.
SMRiQ9BXW9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 291Interaction with FANCEAdd BLAST291
Regioni248 – 359Interaction with BRCA2Add BLAST112

Domaini

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

Phylogenomic databases

eggNOGiKOG4712. Eukaryota.
ENOG410XT6B. LUCA.
GeneTreeiENSGT00390000016970.
HOGENOMiHOG000060189.
HOVERGENiHBG060904.
InParanoidiQ9BXW9.
KOiK10891.
OMAiSHIQDDM.
OrthoDBiEOG091G07FG.
TreeFamiTF101106.

Family and domain databases

InterProiIPR029448. FANCD2.
[Graphical view]
PfamiPF14631. FancD2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Sequence cautioni

The sequence BAB14132 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 → R.1 PublicationCorresponds to variant rs34691009dbSNPEnsembl.1
Natural variantiVAR_02582861T → M.1 PublicationCorresponds to variant rs35110529dbSNPEnsembl.1
Natural variantiVAR_02582965Q → H.1 PublicationCorresponds to variant rs36084488dbSNPEnsembl.1
Natural variantiVAR_022559126S → G in FANCD2. Corresponds to variant rs764507146dbSNPEnsembl.1
Natural variantiVAR_025830172I → M.1 PublicationCorresponds to variant rs35173688dbSNPEnsembl.1
Natural variantiVAR_025831193T → A.1 PublicationCorresponds to variant rs34936017dbSNPEnsembl.1
Natural variantiVAR_022560302R → W in FANCD2. 1 PublicationCorresponds to variant rs121917787dbSNPEnsembl.1
Natural variantiVAR_025832328R → Q.1 PublicationCorresponds to variant rs35625434dbSNPEnsembl.1
Natural variantiVAR_025833446L → V.1 PublicationCorresponds to variant rs34557223dbSNPEnsembl.1
Natural variantiVAR_025834456L → R.1 PublicationCorresponds to variant rs35782247dbSNPEnsembl.1
Natural variantiVAR_025835623Q → P.1 PublicationCorresponds to variant rs36070315dbSNPEnsembl.1
Natural variantiVAR_022561714P → L Common polymorphism. Combined sources2 PublicationsCorresponds to variant rs3864017dbSNPEnsembl.1
Natural variantiVAR_025836865K → R.1 PublicationCorresponds to variant rs35546777dbSNPEnsembl.1
Natural variantiVAR_025837901G → V.1 PublicationCorresponds to variant rs35495399dbSNPEnsembl.1
Natural variantiVAR_0225621236R → H in FANCD2; no effect on ubiquitination. 1 PublicationCorresponds to variant rs121917786dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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. 67 interactors.
DIPiDIP-27606N.
DIP-29382N.
IntActiQ9BXW9. 30 interactors.
MINTiMINT-190855.
STRINGi9606.ENSP00000287647.

Chemistry databases

ChEMBLiCHEMBL2157857.

PTM databases

iPTMnetiQ9BXW9.
PhosphoSitePlusiQ9BXW9.

Polymorphism and mutation databases

BioMutaiFANCD2.
DMDMi67461071.

Proteomic databases

EPDiQ9BXW9.
PaxDbiQ9BXW9.
PeptideAtlasiQ9BXW9.
PRIDEiQ9BXW9.

Protocols and materials databases

DNASUi2177.
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

CTDi2177.
DisGeNETi2177.
GeneCardsiFANCD2.
GeneReviewsiFANCD2.
H-InvDBHIX0003045.
HGNCiHGNC:3585. FANCD2.
HPAiCAB016117.
HPA063742.
MalaCardsiFANCD2.
MIMi227646. phenotype.
613984. gene.
neXtProtiNX_Q9BXW9.
OpenTargetsiENSG00000144554.
Orphaneti84. Fanconi anemia.
PharmGKBiPA27999.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4712. Eukaryota.
ENOG410XT6B. LUCA.
GeneTreeiENSGT00390000016970.
HOGENOMiHOG000060189.
HOVERGENiHBG060904.
InParanoidiQ9BXW9.
KOiK10891.
OMAiSHIQDDM.
OrthoDBiEOG091G07FG.
TreeFamiTF101106.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000144554-MONOMER.
ReactomeiR-HSA-6783310. Fanconi Anemia Pathway.
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
SIGNORiQ9BXW9.

Miscellaneous databases

ChiTaRSiFANCD2. human.
GeneWikiiFANCD2.
GenomeRNAii2177.
PROiQ9BXW9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144554.
CleanExiHS_FANCD2.
ExpressionAtlasiQ9BXW9. baseline and differential.
GenevisibleiQ9BXW9. HS.

Family and domain databases

InterProiIPR029448. FANCD2.
[Graphical view]
PfamiPF14631. FancD2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFACD2_HUMAN
AccessioniPrimary (citable) accession number: Q9BXW9
Secondary accession number(s): Q2LA86
, Q69YP9, Q6PJN7, Q9BQ06, Q9H9T9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: November 26, 2014
Last modified: November 2, 2016
This is version 145 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.