Seroatlas · Human Serome Atlas

FANCD2

Fanconi anemia group D2 protein

Also known as: FA-D2, FACD, FACD2_HUMAN, FAD, FANCD

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BXW9
Gene: FANCD2
Ensembl: ENSG00000144554
Chromosome: 3
Canonical length: 1451 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli,Nuclear bodies,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Canonical amino-acid sequenceUniProt

1451 residues, UniProt reviewed canonical sequence.

>Q9BXW9|FANCD2
     1  MVSKRRLSKS EDKESLTEDA SKTRKQPLSK KTKKSHIANE VEENDSIFVK LLKISGIILK
    61  TGESQNQLAV DQIAFQKKLF QTLRRHPSYP KIIEEFVSGL ESYIEDEDSF RNCLLSCERL
   121  QDEEASMGAS YSKSLIKLLL GIDILQPAII KTLFEKLPEY FFENKNSDEI NIPRLIVSQL
   181  KWLDRVVDGK DLTTKIMQLI SIAPENLQHD IITSLPEILG DSQHADVGKE LSDLLIENTS
   241  LTVPILDVLS SLRLDPNFLL KVRQLVMDKL SSIRLEDLPV IIKFILHSVT AMDTLEVISE
   301  LREKLDLQHC VLPSRLQASQ VKLKSKGRAS SSGNQESSGQ SCIILLFDVI KSAIRYEKTI
   361  SEAWIKAIEN TASVSEHKVF DLVMLFIIYS TNTQTKKYID RVLRNKIRSG CIQEQLLQST
   421  FSVHYLVLKD MCSSILSLAQ SLLHSLDQSI ISFGSLLYKY AFKFFDTYCQ QEVVGALVTH
   481  ICSGNEAEVD TALDVLLELV VLNPSAMMMN AVFVKGILDY LDNISPQQIR KLFYVLSTLA
   541  FSKQNEASSH IQDDMHLVIR KQLSSTVFKY KLIGIIGAVT MAGIMAADRS ESPSLTQERA
   601  NLSDEQCTQV TSLLQLVHSC SEQSPQASAL YYDEFANLIQ HEKLDPKALE WVGHTICNDF
   661  QDAFVVDSCV VPEGDFPFPV KALYGLEEYD TQDGIAINLL PLLFSQDFAK DGGPVTSQES
   721  GQKLVSPLCL APYFRLLRLC VERQHNGNLE EIDGLLDCPI FLTDLEPGEK LESMSAKERS
   781  FMCSLIFLTL NWFREIVNAF CQETSPEMKG KVLTRLKHIV ELQIILEKYL AVTPDYVPPL
   841  GNFDVETLDI TPHTVTAISA KIRKKGKIER KQKTDGSKTS SSDTLSEEKN SECDPTPSHR
   901  GQLNKEFTGK EEKTSLLLHN SHAFFRELDI EVFSILHCGL VTKFILDTEM HTEATEVVQL
   961  GPPELLFLLE DLSQKLESML TPPIARRVPF LKNKGSRNIG FSHLQQRSAQ EIVHCVFQLL
  1021  TPMCNHLENI HNYFQCLAAE NHGVVDGPGV KVQEYHIMSS CYQRLLQIFH GLFAWSGFSQ
  1081  PENQNLLYSA LHVLSSRLKQ GEHSQPLEEL LSQSVHYLQN FHQSIPSFQC ALYLIRLLMV
  1141  ILEKSTASAQ NKEKIASLAR QFLCRVWPSG DKEKSNISND QLHALLCIYL EHTESILKAI
  1201  EEIAGVGVPE LINSPKDASS STFPTLTRHT FVVFFRVMMA ELEKTVKKIE PGTAADSQQI
  1261  HEEKLLYWNM AVRDFSILIN LIKVFDSHPV LHVCLKYGRL FVEAFLKQCM PLLDFSFRKH
  1321  REDVLSLLET FQLDTRLLHH LCGHSKIHQD TRLTQHVPLL KKTLELLVCR VKAMLTLNNC
  1381  REAFWLGNLK NRDLQGEEIK SQNSQESTAD ESEDDMSSQA SKSKATEDGE EDEVSAGEKE
  1441  QDSDESYDDS D

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FANCD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 13 nTPM
tonsil: 10 nTPM
testis: 9.4 nTPM
lymph node: 9.3 nTPM
thymus: 7.9 nTPM
appendix: 6.4 nTPM

Single-cell type

early primary spermatocytes: 104 nCPM
erythrocyte progenitors: 90 nCPM
monocyte progenitors: 73 nCPM
megakaryocyte progenitors: 70 nCPM
differentiating spermatogonia: 59 nCPM
neutrophil progenitors: 53 nCPM

Immune cell

basophil: 2.6 nTPM
naive B-cell: 2.1 nTPM
memory B-cell: 1.9 nTPM
eosinophil: 1.4 nTPM
non-classical monocyte: 1.4 nTPM
plasmacytoid DC: 1.4 nTPM

Brain region

cerebral cortex: 20 nTPM
white matter: 20 nTPM
medulla oblongata: 19 nTPM
hippocampal formation: 16 nTPM
pons: 15 nTPM
spinal cord: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FANCD2.

Disease | AllUniProt

Conditions FANCD2 is implicated in, by any mechanism.

Fanconi anemia complementation group D2 (FANCD2) MIM:227646

Disease | GeneticClinVar

283 pathogenic / likely-pathogenic of 2,145 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Fanconi anemia
Fanconi anemia complementation group D2
FANCD2-related disorder
Inborn genetic diseases
Familial cancer of breast

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.89
gnomAD pLI: 0
gnomAD missense Z: 0.04
DepMap mean gene effect: -0.29
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

DNA polymerase binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Fanconi anaemia protein FANCD2
Fanconi anaemia protein FancD2 nuclease

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FANCD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FANCD2 as an antibody target. Whether an autoantibody or antibody against FANCD2 could matter depends on whether native FANCD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FANCD2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FANCD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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