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Basic Information Integrated Annotations
Tag Content
UUCD2 ID IUUC-Hsa-046759
Ensembl Protein ID ENSP00000398754.1
UniProt Accession Q9BXW9; Q2LA86; Q69YP9; Q6PJN7; Q9BQ06; Q9H9T9; FACD2_HUMAN
Genbank Protein ID AAL05980.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18772.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18773.1; AAK18
Protein Name Fanconi anemia group D2 protein
Genbank Nucleotide ID AF230336; 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; AF273251; AF273222; AF273223; AF273224; AF273225; AF273226; AF273227; AF273228; AF273229; AF273230; AF273231; AF273232; AF273233; AF273234; AF273235; AF273236; AF273237; AF273238; AF273239; AF273240; AF273241; AF273242; AF273243; AF273244; AF273
Gene Name FANCD2; FACD
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000144554.10 ENST00000287647.7 ENSP00000287647.3
ENSG00000144554.10 ENST00000435522.5 ENSP00000402166.1
ENSG00000144554.10 ENST00000419585.5 ENSP00000398754.1
ENSG00000144554.10 ENST00000431693.1 ENSP00000399354.1
ENSG00000144554.10 ENST00000421731.5 ENSP00000389936.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
miRecordsRepTarSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDPINAHINTMentha
InWeb_IM
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosSNPPhosphositePlus
dbPTMHPRDPhospho.ELMUniProt
PHOSIDABioGRIDmUbiSiDa
DNA Methylation
MethyCancerTCGAICGC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
UBD/Alpha-Helix/CUE CUE 22855611
Classification
Family E-value Score Start End
UBD/Alpha-Helix/CUE 4.90e-12 47.2 191 234
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   UBD/Alpha-Helix/CUE
   S: 1    dletaleqLkeiFP.nldysviqvvLeantgsleaavnnLLegs 43
           dl+t+++qL++i+P nl++++i++++e++++s++a+v+++L+++
   Q: 191  DLTTKIMQLISIAPeNLQHDIITSLPEILGDSQHADVGKELSDL 234
           79***************************************986 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     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.
 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.
Protein Sequence
(Fasta)
MVSKRRLSKS EDKESLTEDA SKTRKQPLSK KTKKSHIANE VEENDSIFVK LLKISGIILK 60
TGESQNQLAV DQIAFQKKLF QTLRRHPSYP KIIEEFVSGL ESYIEDEDSF RNCLLSCERL 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046759|UBD,CUE|Homo sapiens
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Nucleotide Sequence
(Fasta)
GTCAGAGCGG CGTCGGGCCT GGCGGGAAAG TCGAAAACTA CGGGCGGCGA CGGCTTCTCG 60
GTGAGTAAGT GGAGCAATGG TCGTAGTCTC TCGAGGCCCC GCTCCCCTGC GGCCTAATCT 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046759|UBD,CUE|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0025--Alternative splicing
KW-0131--Cell cycle
KW-0181--Complete proteome
KW-0225--Disease mutation
KW-0227--DNA damage
KW-0234--DNA repair
KW-0923--Fanconi anemia
KW-1017--Isopeptide bond
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0832--Ubl conjugation
Interpro

IPR011989--ARM-like
IPR029448--FANCD2
Pfam

PF14631--FancD2
Gene Ontology

GO:0000793--C:condensed chromosome
GO:0005829--C:cytosol
GO:0016604--C:nuclear body
GO:0005730--C:nucleolus
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0070182--F:DNA polymerase binding
GO:0048854--P:brain morphogenesis
GO:0034599--P:cellular response to oxidative stress
GO:0006281--P:DNA repair
GO:0007276--P:gamete generation
GO:0036297--P:interstrand cross-link repair
GO:0097150--P:neuronal stem cell population maintenance
GO:2000348--P:regulation of CD40 signaling pathway
GO:0050727--P:regulation of inflammatory response
GO:0045589--P:regulation of regulatory T cell differentiation
GO:0051090--P:regulation of sequence-specific DNA binding transcription factor activity
GO:0010332--P:response to gamma radiation
GO:0007129--P:synapsis
KEGG hsa:2177
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Ata-000432 Aegilops tauschii 30.15 2.00e-64 241.00
IUUC-Aml-001335 Ailuropoda melanoleuca 86.15 0.00e+00 2425.00
IUUC-Apl-004194 Anas platyrhynchos 56.08 0.00e+00 1505.00
IUUC-Aca-004342 Anolis carolinensis 58.37 0.00e+00 1594.00
IUUC-Aly-005786 Arabidopsis lyrata 27.54 2.00e-64 241.00
IUUC-Ath-007464 Arabidopsis thaliana 29.43 1.00e-79 292.00
IUUC-Ame-011928 Astyanax mexicanus 54.37 0.00e+00 731.00
IUUC-Bta-012694 Bos taurus 80.70 0.00e+00 2279.00
IUUC-Bdi-014978 Brachypodium distachyon 27.96 3.00e-68 254.00
IUUC-Cel-018414 Caenorhabditis elegans 23.79 1.00e-05 46.60
IUUC-Cja-018718 Callithrix jacchus 94.40 0.00e+00 2684.00
IUUC-Cfa-020099 Canis familiaris 85.38 0.00e+00 2387.00
IUUC-Cpo-022409 Cavia porcellus 76.43 0.00e+00 2093.00
IUUC-Csa-023529 Chlorocebus sabaeus 95.05 0.00e+00 2678.00
IUUC-Cho-024646 Choloepus hoffmanni 80.70 0.00e+00 910.00
IUUC-Cin-025320 Ciona intestinalis 25.97 6.00e-61 229.00
IUUC-Csv-025936 Ciona savignyi 36.07 2.00e-05 42.00
IUUC-Cme-027121 Cyanidioschyzon merolae 34.38 1.00e-15 79.70
IUUC-Dre-027518 Danio rerio 54.71 0.00e+00 1416.00
IUUC-Dno-029719 Dasypus novemcinctus 83.26 0.00e+00 2347.00
IUUC-Dme-032205 Drosophila melanogaster 23.14 3.00e-61 231.00
IUUC-Ete-032735 Echinops telfairi 60.04 0.00e+00 1115.00
IUUC-Eca-033657 Equus caballus 86.48 0.00e+00 2409.00
IUUC-Eeu-035133 Erinaceus europaeus 65.48 0.00e+00 1738.00
IUUC-Fca-035880 Felis catus 79.74 0.00e+00 2262.00
IUUC-Fal-037013 Ficedula albicollis 55.23 0.00e+00 1349.00
IUUC-Gmo-039371 Gadus morhua 48.93 0.00e+00 730.00
IUUC-Gga-040720 Gallus gallus 57.39 0.00e+00 1512.00
IUUC-Gac-042331 Gasterosteus aculeatus 51.97 0.00e+00 1310.00
IUUC-Ggo-045657 Gorilla gorilla 87.81 0.00e+00 2500.00
IUUC-Hvu-047390 Hordeum vulgare 29.58 2.00e-68 254.00
IUUC-Itr-048885 Ictidomys tridecemlineatus 80.47 0.00e+00 2325.00
IUUC-Lch-049711 Latimeria chalumnae 56.12 0.00e+00 1508.00
IUUC-Lpe-050891 Leersia perrieri 25.85 1.00e-94 342.00
IUUC-Loc-051888 Lepisosteus oculatus 53.82 0.00e+00 1401.00
IUUC-Laf-053492 Loxodonta africana 84.33 0.00e+00 2390.00
IUUC-Mcc-055632 Macaca mulatta 94.46 0.00e+00 2695.00
IUUC-Mor-056955 Magnaporthe oryzae 26.15 1.00e-01 31.60
IUUC-Mpo-057477 Magnaporthe poae 25.45 1.60e-02 35.00
IUUC-Mga-059769 Meleagris gallopavo 57.03 0.00e+00 1474.00
IUUC-Mmr-061234 Microcebus murinus 86.62 0.00e+00 2515.00
IUUC-Mdo-062903 Monodelphis domestica 70.64 0.00e+00 1971.00
IUUC-Mmu-063676 Mus musculus 75.00 0.00e+00 2030.00
IUUC-Mpu-066421 Mustela putorius furo 84.86 0.00e+00 2058.00
IUUC-Mlu-067851 Myotis lucifugus 81.36 0.00e+00 2333.00
IUUC-Nle-069694 Nomascus leucogenys 98.65 0.00e+00 1330.00
IUUC-Opr-071174 Ochotona princeps 68.18 0.00e+00 1202.00
IUUC-Ont-071414 Oreochromis niloticus 53.28 0.00e+00 1355.00
IUUC-Oan-072704 Ornithorhynchus anatinus 53.39 7.00e-85 307.00
IUUC-Ocu-073877 Oryctolagus cuniculus 80.45 0.00e+00 2273.00
IUUC-Obr-076418 Oryza brachyantha 25.85 8.00e-90 325.00
IUUC-Ogl-077563 Oryza glaberrima 28.31 3.00e-56 214.00
IUUC-Ogu-077998 Oryza glumaepatula 28.13 4.00e-65 244.00
IUUC-Olo-080953 Oryza longistaminata 25.45 5.00e-77 283.00
IUUC-Ome-081590 Oryza meridionalis 25.78 2.00e-91 331.00
IUUC-Opu-083761 Oryza punctata 27.98 2.00e-64 241.00
IUUC-Oru-084791 Oryza rufipogon 25.52 6.00e-91 330.00
IUUC-Osa-085771 Oryza sativa 27.82 5.00e-64 239.00
IUUC-Ola-086402 Oryzias latipes 51.53 0.00e+00 810.00
IUUC-Oga-088325 Otolemur garnettii 81.72 0.00e+00 2255.00
IUUC-Oar-089492 Ovis aries 81.48 0.00e+00 2340.00
IUUC-Ptr-091257 Pan troglodytes 98.61 0.00e+00 2816.00
IUUC-Pan-091710 Papio anubis 98.57 0.00e+00 863.00
IUUC-Psi-093960 Pelodiscus sinensis 57.19 0.00e+00 1263.00
IUUC-Pma-094600 Petromyzon marinus 47.54 0.00e+00 1208.00
IUUC-Ppa-095666 Physcomitrella patens 27.31 3.00e-85 310.00
IUUC-Pfo-096345 Poecilia formosa 51.52 0.00e+00 1342.00
IUUC-Pab-098684 Pongo abelii 94.93 0.00e+00 2720.00
IUUC-Pca-100659 Procavia capensis 66.67 0.00e+00 1270.00
IUUC-Pva-102653 Pteropus vampyrus 82.76 0.00e+00 2351.00
IUUC-Pte-104328 Pyrenophora teres 27.12 2.80e-02 32.70
IUUC-Rno-105830 Rattus norvegicus 74.95 0.00e+00 2089.00
IUUC-Sha-106852 Sarcophilus harrisii 70.65 0.00e+00 1921.00
IUUC-Spo-108102 Schizosaccharomyces pombe 33.93 1.30e-02 33.10
IUUC-Sit-110198 Setaria italica 27.27 1.00e-69 259.00
IUUC-Sar-113565 Sorex araneus 59.01 0.00e+00 961.00
IUUC-Ssc-116311 Sus scrofa 83.95 0.00e+00 2350.00
IUUC-Tgu-116706 Taeniopygia guttata 55.93 0.00e+00 1474.00
IUUC-Tru-118512 Takifugu rubripes 51.32 0.00e+00 1280.00
IUUC-Tni-120565 Tetraodon nigroviridis 52.06 0.00e+00 1347.00
IUUC-Tca-121195 Theobroma cacao 26.02 4.00e-104 373.00
IUUC-Tbe-127657 Tupaia belangeri 75.86 0.00e+00 1205.00
IUUC-Ttr-128431 Tursiops truncatus 82.06 0.00e+00 2298.00
IUUC-Vpa-130299 Vicugna pacos 78.12 0.00e+00 1231.00
IUUC-Vvi-131258 Vitis vinifera 28.34 1.00e-36 149.00
IUUC-Xtr-132684 Xenopus tropicalis 58.91 0.00e+00 1573.00
Created Date 25-Jun-2017

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