| Tag | Content |
|---|---|
| UniProt Accession | FACD2_HUMAN; Q9BXW9; |
| Entrez ID | 2177 |
| GenBank Protein ID | NM_001018115.2; NM_001319984.1; NM_033084.4; |
| GenBank Nucleotide ID | NP_001018125.1; NP_001306913.1; NP_149075.2; |
| Protein Name | Fanconi anemia group D2 protein (Protein FACD2) |
| Gene Name | FANCD2; FACD |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| 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. |
| Sequence (Fasta) | MVSKRRLSKS EDKESLTEDA SKTRKQPLSK KTKKSHIANE VEENDSIFVK LLKISGIILK 60 TGESQNQLAV DQIAFQKKLF QTLRRHPSYP KIIEEFVSGL ESYIEDEDSF RNCLLSCERL 120 QDEEASMGAS YSKSLIKLLL GIDILQPAII KTLFEKLPEY FFENKNSDEI NIPRLIVSQL 180 KWLDRVVDGK DLTTKIMQLI SIAPENLQHD IITSLPEILG DSQHADVGKE LSDLLIENTS 240 LTVPILDVLS SLRLDPNFLL KVRQLVMDKL SSIRLEDLPV IIKFILHSVT AMDTLEVISE 300 LREKLDLQHC VLPSRLQASQ VKLKSKGRAS SSGNQESSGQ SCIILLFDVI KSAIRYEKTI 360 SEAWIKAIEN TASVSEHKVF DLVMLFIIYS TNTQTKKYID RVLRNKIRSG CIQEQLLQST 420 FSVHYLVLKD MCSSILSLAQ SLLHSLDQSI ISFGSLLYKY AFKFFDTYCQ QEVVGALVTH 480 ICSGNEAEVD TALDVLLELV VLNPSAMMMN AVFVKGILDY LDNISPQQIR KLFYVLSTLA 540 FSKQNEASSH IQDDMHLVIR KQLSSTVFKY KLIGIIGAVT MAGIMAADRS ESPSLTQERA 600 NLSDEQCTQV TSLLQLVHSC SEQSPQASAL YYDEFANLIQ HEKLDPKALE WVGHTICNDF 660 QDAFVVDSCV VPEGDFPFPV KALYGLEEYD TQDGIAINLL PLLFSQDFAK DGGPVTSQES 720 GQKLVSPLCL APYFRLLRLC VERQHNGNLE EIDGLLDCPI FLTDLEPGEK LESMSAKERS 780 FMCSLIFLTL NWFREIVNAF CQETSPEMKG KVLTRLKHIV ELQIILEKYL AVTPDYVPPL 840 GNFDVETLDI TPHTVTAISA KIRKKGKIER KQKTDGSKTS SSDTLSEEKN SECDPTPSHR 900 GQLNKEFTGK EEKTSLLLHN SHAFFRELDI EVFSILHCGL VTKFILDTEM HTEATEVVQL 960 GPPELLFLLE DLSQKLESML TPPIARRVPF LKNKGSRNIG FSHLQQRSAQ EIVHCVFQLL 1020 TPMCNHLENI HNYFQCLAAE NHGVVDGPGV KVQEYHIMSS CYQRLLQIFH GLFAWSGFSQ 1080 PENQNLLYSA LHVLSSRLKQ GEHSQPLEEL LSQSVHYLQN FHQSIPSFQC ALYLIRLLMV 1140 ILEKSTASAQ NKEKIASLAR QFLCRVWPSG DKEKSNISND QLHALLCIYL EHTESILKAI 1200 EEIAGVGVPE LINSPKDASS STFPTLTRHT FVVFFRVMMA ELEKTVKKIE PGTAADSQQI 1260 HEEKLLYWNM AVRDFSILIN LIKVFDSHPV LHVCLKYGRL FVEAFLKQCM PLLDFSFRKH 1320 REDVLSLLET FQLDTRLLHH LCGHSKIHQD TRLTQHVPLL KKTLELLVCR VKAMLTLNNC 1380 REAFWLGNLK NRDLQGEEIK SQNSQESTAD ESEDDMSSQA SKSKATEDGE EDEVSAGEKE 1440 QDSDESYDDS D 1452 |
|
||||||||||||||||||||
| Database | Annotation |
|---|---|
| Cancer Gene Census | AML, leukaemia Fanconi anaemia D2 |
| CTD (Curated) (count: 3) | MESH:C531835
; Esophageal atresia with or without tracheoesophageal fistula MESH:D005199 ; Fanconi Anemia OMIM:227646 ; FANCONI ANEMIA, COMPLEMENTATION GROUP D2 |
| DisGeNet (Curated) (count: 69) (view all) | C0002871; Anemia
C0010417; Cryptorchidism C0011053; Deafness C0013491; Ecchymosis C0014850; Esophageal Atresia C0015625; Fanconi Anemia |
| HGMD (count: 36) (view all) | CD072413; Fanconi anaemia; Small deletions
CD072414; Fanconi anaemia; Small deletions CD072415; Fanconi anaemia; Small deletions CD072416; Fanconi anaemia; Small deletions CD072417; Fanconi anaemia; Small deletions CG072679; Fanconi anaemia; Gross deletions |
| GWASdb (count: 33) (view all) | rs3846177; Alzheimer's disease; Alzheimer's disease
rs7648104; Alzheimer's disease; Alzheimer's disease rs17032278; Alzheimer's disease; Alzheimer's disease rs6442147; Alzheimer's disease; Alzheimer's disease rs7631678; Alzheimer's disease; Alzheimer's disease rs7637888; Alzheimer's disease; Alzheimer's disease |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 45) (view all) | 1059 VQEYHIMSSCYQRLL dbPAF
1060 QEYHIMSSCYQRLLQ dbPAF 1253 VKKIEPGTAADSQQI dbPAF 1257 EPGTAADSQQIHEEK dbPAF 1363 HVPLLKKTLELLVCR dbPAF 1401 LQGEEIKSQNSQEST dbPAF |
| Acetylation (count: 3) | 1361 TQHVPLLKKTLELLV PLMD
22 SLTEDASKTRKQPLS PLMD 889 SDTLSEEKNSECDPT PLMD |
| Ubiquitination (count: 33) (view all) | 1154 ASAQNKEKIASLARQ PLMD
1216 PELINSPKDASSSTF PLMD 1248 ELEKTVKKIEPGTAA PLMD 1319 LLDFSFRKHREDVLS PLMD 133 SMGASYSKSLIKLLL PLMD 1346 HHLCGHSKIHQDTRL PLMD |
| Sumoylation (count: 1) | 561 DMHLVIRKQLSSTVF PLMD |
| Glycation (count: 4) | 1152 STASAQNKEKIASLA PLMD
1154 ASAQNKEKIASLARQ PLMD 571 SSTVFKYKLIGIIGA PLMD 681 GDFPFPVKALYGLEE PLMD |
| Network | Interaction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A | B | Source | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||