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Protein

Fanconi anemia group D2 protein homolog

Gene

Fancd2

Organism
Mus musculus (Mouse)
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 (By similarity). Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • brain morphogenesis Source: MGI
  • cellular response to DNA damage stimulus Source: MGI
  • cellular response to oxidative stress Source: MGI
  • DNA repair Source: GO_Central
  • gamete generation Source: MGI
  • neuronal stem cell population maintenance Source: MGI
  • regulation of CD40 signaling pathway Source: MGI
  • regulation of inflammatory response Source: MGI
  • regulation of regulatory T cell differentiation Source: MGI
  • regulation of sequence-specific DNA binding transcription factor activity Source: MGI
  • response to gamma radiation Source: MGI
  • synapsis Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell cycle, DNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-MMU-6783310. Fanconi Anemia Pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group D2 protein homolog
Short name:
Protein FACD2
Gene namesi
Name:Fancd2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 6

Organism-specific databases

MGIiMGI:2448480. Fancd2.

Subcellular locationi

  • Nucleus By similarity

  • Note: Concentrates in nuclear foci during S phase and upon genotoxic stress.By similarity

GO - Cellular componenti

  • condensed chromosome Source: MGI
  • cytoplasm Source: MGI
  • nucleolus Source: MGI
  • nucleus Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Disruption phenotypei

Mice display delayed pre- and postnatal development, defects in germ-cell development, and increase incidence of microphthalmia and tumors of epithelial cell origin.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000871691 – 1450Fanconi anemia group D2 protein homologAdd BLAST1450

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei220PhosphoserineBy similarity1
Cross-linki559Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei714PhosphoserineBy similarity1
Modified residuei1255PhosphoserineBy similarity1
Modified residuei1404PhosphoserineBy similarity1
Modified residuei1412PhosphoserineBy similarity1
Modified residuei1426PhosphothreonineBy similarity1
Modified residuei1434PhosphoserineBy similarity1

Post-translational modificationi

Monoubiquitinated on Lys-559 during S phase and upon genotoxic stress by FANCL in complex with E2 ligases UBE2T or UBE2W. 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, FANCL and FANCM, and proteins involved in cell cycle checkpoints and DNA repair, including RPA1, ATR, CHEK1 and BRCA1. Ubiquitination is required for binding to chromatin, interaction with BRCA1, BRCA2 and MTMR15/FAN1, DNA repair, and normal cell cycle progression (By similarity).By similarity
Phosphorylated on several sites including Ser-220 and Ser-1399 in response to genotoxic stress.By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ80V62.
PaxDbiQ80V62.
PeptideAtlasiQ80V62.
PRIDEiQ80V62.

PTM databases

iPTMnetiQ80V62.
PhosphoSitePlusiQ80V62.

Expressioni

Gene expression databases

BgeeiENSMUSG00000034023.
CleanExiMM_FANCD2.
ExpressionAtlasiQ80V62. baseline and differential.
GenevisibleiQ80V62. MM.

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 (By similarity). 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 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
H2afxP276612EBI-7268304,EBI-495621

GO - Molecular functioni

Protein-protein interaction databases

BioGridi229254. 7 interactors.
IntActiQ80V62. 1 interactor.
MINTiMINT-4507601.
STRINGi10090.ENSMUSP00000045667.

Structurei

Secondary structure

11450
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi45 – 52Combined sources8
Beta strandi65 – 68Combined sources4
Helixi72 – 83Combined sources12
Helixi87 – 101Combined sources15
Helixi105 – 111Combined sources7
Beta strandi112 – 114Combined sources3
Helixi133 – 139Combined sources7
Turni141 – 143Combined sources3
Helixi144 – 159Combined sources16
Helixi170 – 175Combined sources6
Helixi176 – 178Combined sources3
Helixi187 – 200Combined sources14
Turni203 – 205Combined sources3
Helixi206 – 211Combined sources6
Helixi213 – 216Combined sources4
Helixi219 – 221Combined sources3
Helixi222 – 235Combined sources14
Helixi240 – 249Combined sources10
Helixi254 – 266Combined sources13
Helixi275 – 285Combined sources11
Helixi292 – 304Combined sources13
Helixi336 – 354Combined sources19
Helixi356 – 368Combined sources13
Helixi369 – 371Combined sources3
Helixi378 – 389Combined sources12
Helixi391 – 405Combined sources15
Turni406 – 408Combined sources3
Helixi412 – 426Combined sources15
Helixi430 – 441Combined sources12
Beta strandi443 – 445Combined sources3
Helixi446 – 461Combined sources16
Helixi465 – 481Combined sources17
Helixi484 – 500Combined sources17
Helixi502 – 507Combined sources6
Helixi509 – 513Combined sources5
Helixi514 – 521Combined sources8
Helixi524 – 541Combined sources18
Helixi548 – 561Combined sources14
Helixi566 – 582Combined sources17
Helixi603 – 619Combined sources17
Beta strandi620 – 622Combined sources3
Helixi623 – 639Combined sources17
Helixi644 – 662Combined sources19
Beta strandi679 – 681Combined sources3
Beta strandi685 – 687Combined sources3
Beta strandi689 – 692Combined sources4
Helixi697 – 706Combined sources10
Helixi727 – 742Combined sources16
Turni747 – 749Combined sources3
Helixi750 – 752Combined sources3
Beta strandi757 – 759Combined sources3
Beta strandi765 – 768Combined sources4
Helixi774 – 797Combined sources24
Helixi803 – 827Combined sources25
Helixi916 – 919Combined sources4
Turni920 – 922Combined sources3
Helixi928 – 935Combined sources8
Helixi960 – 978Combined sources19
Turni1001 – 1004Combined sources4
Helixi1007 – 1034Combined sources28
Helixi1050 – 1071Combined sources22
Turni1074 – 1077Combined sources4
Helixi1082 – 1090Combined sources9
Helixi1105 – 1117Combined sources13
Helixi1118 – 1122Combined sources5
Helixi1126 – 1140Combined sources15
Helixi1149 – 1160Combined sources12
Helixi1174 – 1190Combined sources17
Helixi1194 – 1203Combined sources10
Turni1204 – 1206Combined sources3
Helixi1207 – 1210Combined sources4
Helixi1226 – 1244Combined sources19
Helixi1254 – 1280Combined sources27
Turni1281 – 1283Combined sources3
Helixi1287 – 1305Combined sources19
Helixi1307 – 1314Combined sources8
Turni1315 – 1317Combined sources3
Helixi1319 – 1340Combined sources22
Helixi1344 – 1346Combined sources3
Helixi1349 – 1352Combined sources4
Helixi1355 – 1373Combined sources19
Helixi1379 – 1387Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3S4WX-ray3.41B33-1415[»]
ProteinModelPortaliQ80V62.
SMRiQ80V62.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 289Interaction with FANCEBy similarityAdd BLAST289
Regioni246 – 357Interaction with BRCA2By similarityAdd BLAST112

Phylogenomic databases

eggNOGiKOG4712. Eukaryota.
ENOG410XT6B. LUCA.
GeneTreeiENSGT00390000016970.
HOGENOMiHOG000060189.
HOVERGENiHBG060904.
InParanoidiQ80V62.
KOiK10891.
OMAiSHIQDDM.
OrthoDBiEOG091G07FG.
PhylomeDBiQ80V62.
TreeFamiTF101106.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q80V62-1) [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
MISKRRRLDS EDKENLTEDA SKTMPLSKLA KKSHNSHEVE ENGSVFVKLL
60 70 80 90 100
KASGLTLKTG ENQNQLGVDQ VIFQRKLFQA LRKHPAYPKV IEEFVNGLES
110 120 130 140 150
YTEDSESLRN CLLSCERLQD EEASMGTFYS KSLIKLLLGI DILQPAIIKM
160 170 180 190 200
LFEKVPQFLF ESENRDGINM ARLIINQLKW LDRIVDGKDL TAQMMQLISV
210 220 230 240 250
APVNLQHDFI TSLPEILGDS QHANVGKELG ELLVQNTSLT VPILDVFSSL
260 270 280 290 300
RLDPNFLSKI RQLVMGKLSS VRLEDFPVIV KFLLHSVTDT TSLEVIAELR
310 320 330 340 350
ENLNVQQFIL PSRIQASQSK LKSKGLASSS GNQENSDKDC IVLVFDVIKS
360 370 380 390 400
AIRYEKTISE AWFKAIERIE SAAEHKALDV VMLLIIYSTS TQTKKGVEKL
410 420 430 440 450
LRNKIQSDCI QEQLLDSAFS THYLVLKDIC PSILLLAQTL FHSQDQRIIL
460 470 480 490 500
FGSLLYKYAF KFFDTYCQQE VVGALVTHVC SGTEAEVDTA LDVLLELIVL
510 520 530 540 550
NASAMRLNAA FVKGILDYLE NMSPQQIRKI FCILSTLAFS QQPGTSNHIQ
560 570 580 590 600
DDMHLVIRKQ LSSTVFKYKL IGIIGAVTMA GIMAEDRSVP SNSSQRSANV
610 620 630 640 650
SSEQRTQVTS LLQLVHSCTE HSPWASSLYY DEFANLIQER KLAPKTLEWV
660 670 680 690 700
GQTIFNDFQD AFVVDFCAAP EGDFPFPVKA LYGLEEYSTQ DGIVINLLPL
710 720 730 740 750
FYQECAKDAS RATSQESSQR SMSSLCLASH FRLLRLCVAR QHDGNLDEID
760 770 780 790 800
GLLDCPLFLP DLEPGEKLES MSAKDRSLMC SLTFLTFNWF REVVNAFCQQ
810 820 830 840 850
TSPEMKGKVL SRLKDLVELQ GILEKYLAVI PDYVPPFASV DLDTLDMMPR
860 870 880 890 900
SSSAVAAKNR NKGKTGGKKQ KADSNKASCS DTLLTEDTSE CDMAPSGRSH
910 920 930 940 950
VDKESTGKEG KTFVSLQNYR AFFRELDIEV FSILHSGLVT KFILDTEMHT
960 970 980 990 1000
EATEVVQLGP AELLFLLEDL SQKLENMLTA PFAKRICCFK NKGRQNIGFS
1010 1020 1030 1040 1050
HLHQRSVQDI VHCVVQLLTP MCNHLENIHN FFQCLGAEHL SADDKARATA
1060 1070 1080 1090 1100
QEQHTMACCY QKLLQVLHAL FAWKGFTHQS KHRLLHSALE VLSNRLKQME
1110 1120 1130 1140 1150
QDQPLEELVS QSFSYLQNFH HSVPSFQCGL YLLRLLMALL EKSAVPNQKK
1160 1170 1180 1190 1200
EKLASLAKQL LCRAWPHGEK EKNPTFNDHL HDVLYIYLEH TDNVLKAIEE
1210 1220 1230 1240 1250
ITGVGVPELV SAPKDAASST FPTLTRHTFV IFFRVMMAEL EKTVKGLQAG
1260 1270 1280 1290 1300
TAADSQQVHE EKLLYWNMAV RDFSILLNLM KVFDSYPVLH VCLKYGRRFV
1310 1320 1330 1340 1350
EAFLKQCMPL LDFSFRKHRE DVLSLLQTLQ LNTRLLHHLC GHSKIRQDTR
1360 1370 1380 1390 1400
LTKHVPLLKK SLELLVCRVK AMLVLNNCRE AFWLGTLKNR DLQGEEIISQ
1410 1420 1430 1440 1450
DPSSSESNAE DSEDGVTSHV SRNRATEDGE DEASDEQKDQ DSDESDDSSS
Length:1,450
Mass (Da):163,618
Last modified:June 7, 2005 - v2
Checksum:iB1B9AE5B580AC2E9
GO
Isoform 2 (identifier: Q80V62-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-129: SMGTFY → RCGEEA
     130-1450: Missing.

Show »
Length:129
Mass (Da):14,683
Checksum:iFFF76AC76AC4DA8D
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013889124 – 129SMGTFY → RCGEEA in isoform 2. 1 Publication6
Alternative sequenceiVSP_013890130 – 1450Missing in isoform 2. 1 PublicationAdd BLAST1321

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK019136 mRNA. Translation: BAB31563.1.
CK634273 mRNA. No translation available.
CN460982 mRNA. No translation available.
BC042619 mRNA. Translation: AAH42619.1.
CCDSiCCDS20426.1. [Q80V62-1]
RefSeqiNP_001028416.2. NM_001033244.3. [Q80V62-1]
UniGeneiMm.160061.

Genome annotation databases

EnsembliENSMUST00000036340; ENSMUSP00000045667; ENSMUSG00000034023. [Q80V62-1]
GeneIDi211651.
KEGGimmu:211651.
UCSCiuc009dgw.2. mouse. [Q80V62-2]
uc009dgx.2. mouse. [Q80V62-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK019136 mRNA. Translation: BAB31563.1.
CK634273 mRNA. No translation available.
CN460982 mRNA. No translation available.
BC042619 mRNA. Translation: AAH42619.1.
CCDSiCCDS20426.1. [Q80V62-1]
RefSeqiNP_001028416.2. NM_001033244.3. [Q80V62-1]
UniGeneiMm.160061.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3S4WX-ray3.41B33-1415[»]
ProteinModelPortaliQ80V62.
SMRiQ80V62.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi229254. 7 interactors.
IntActiQ80V62. 1 interactor.
MINTiMINT-4507601.
STRINGi10090.ENSMUSP00000045667.

PTM databases

iPTMnetiQ80V62.
PhosphoSitePlusiQ80V62.

Proteomic databases

EPDiQ80V62.
PaxDbiQ80V62.
PeptideAtlasiQ80V62.
PRIDEiQ80V62.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000036340; ENSMUSP00000045667; ENSMUSG00000034023. [Q80V62-1]
GeneIDi211651.
KEGGimmu:211651.
UCSCiuc009dgw.2. mouse. [Q80V62-2]
uc009dgx.2. mouse. [Q80V62-1]

Organism-specific databases

CTDi2177.
MGIiMGI:2448480. Fancd2.

Phylogenomic databases

eggNOGiKOG4712. Eukaryota.
ENOG410XT6B. LUCA.
GeneTreeiENSGT00390000016970.
HOGENOMiHOG000060189.
HOVERGENiHBG060904.
InParanoidiQ80V62.
KOiK10891.
OMAiSHIQDDM.
OrthoDBiEOG091G07FG.
PhylomeDBiQ80V62.
TreeFamiTF101106.

Enzyme and pathway databases

ReactomeiR-MMU-6783310. Fanconi Anemia Pathway.

Miscellaneous databases

PROiQ80V62.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000034023.
CleanExiMM_FANCD2.
ExpressionAtlasiQ80V62. baseline and differential.
GenevisibleiQ80V62. MM.

Family and domain databases

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

Entry informationi

Entry nameiFACD2_MOUSE
AccessioniPrimary (citable) accession number: Q80V62
Secondary accession number(s): Q9CWC7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: June 7, 2005
Last modified: November 2, 2016
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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.