Gene Page: FANCA

Summary ?
GeneID2175
SymbolFANCA
SynonymsFA|FA-H|FA1|FAA|FACA|FAH|FANCH
DescriptionFanconi anemia complementation group A
ReferenceMIM:607139|HGNC:HGNC:3582|Ensembl:ENSG00000187741|HPRD:06186|Vega:OTTHUMG00000173049
Gene typeprotein-coding
Map location16q24.3
Pascal p-value3.312E-5
Sherlock p-value0.81
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4141780chr2040297792FANCA21750.19trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
AKT1AKT | MGC99656 | PKB | PKB-ALPHA | PRKBA | RAC | RAC-ALPHAv-akt murine thymoma viral oncogene homolog 1Two-hybridBioGRID14499622 
ALDOAALDA | MGC10942 | MGC17716 | MGC17767aldolase A, fructose-bisphosphateTwo-hybridBioGRID14499622 
ATP5BATPMB | ATPSB | MGC5231ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptideTwo-hybridBioGRID14499622 
AZIN1MGC3832 | MGC691 | OAZI | OAZIN | ODC1Lantizyme inhibitor 1Two-hybridBioGRID14499622 
BAT1D6S81E | DDX39B | UAP56HLA-B associated transcript 1Two-hybridBioGRID14499622 
BLMBS | MGC126616 | MGC131618 | MGC131620 | RECQ2 | RECQL2 | RECQL3Bloom syndromeAffinity Capture-MSBioGRID12973351 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onsetBRCA1 interacts with FANCA.BIND12354784 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onset-HPRD,BioGRID12354784 
CCT3CCT-gamma | CCTG | PIG48 | TCP-1-gamma | TRIC5chaperonin containing TCP1, subunit 3 (gamma)Two-hybridBioGRID14499622 
CD52CDW52CD52 moleculein vivoBioGRID6186 
CD79AIGA | MB-1CD79a molecule, immunoglobulin-associated alphaTwo-hybridBioGRID14499622 
CDC2CDC28A | CDK1 | DKFZp686L20222 | MGC111195cell division cycle 2, G1 to S and G2 to MAffinity Capture-MSBioGRID15082718 
CHUKIKBKA | IKK-alpha | IKK1 | IKKA | NFKBIKA | TCF16conserved helix-loop-helix ubiquitous kinaseAffinity Capture-Western
Two-hybrid		BioGRID12210728 |14499622 
DAXXBING2 | DAP6 | EAP1 | MGC126245 | MGC126246death-domain associated proteinTwo-hybridBioGRID14499622 
DNAJB1HSPF1 | Hdj1 | Hsp40 | Sis1DnaJ (Hsp40) homolog, subfamily B, member 1Two-hybridBioGRID14499622 
DUS4LDUS4 | MGC133233 | PP35dihydrouridine synthase 4-like (S. cerevisiae)Two-hybridBioGRID14499622 
ENO1ENO1L1 | MBP-1 | MPB1 | NNE | PPHenolase 1, (alpha)Two-hybridBioGRID14499622 
ERCC4RAD1 | XPFexcision repair cross-complementing rodent repair deficiency, complementation group 4Affinity Capture-WesternBioGRID12571280 
FANCAFA | FA-H | FA1 | FAA | FACA | FAH | FANCH | MGC75158Fanconi anemia, complementation group AAffinity Capture-MS
Affinity Capture-Western
Two-hybrid		BioGRID9742112 |10652215 
|11157805 |12973351 
FANCAFA | FA-H | FA1 | FAA | FACA | FAH | FANCH | MGC75158Fanconi anemia, complementation group AFANCA interacts with FANCA.BIND15138265 
FANCCFA3 | FAC | FACC | FLJ14675Fanconi anemia, complementation group CAffinity Capture-MS
Affinity Capture-Western
Reconstituted Complex
Two-hybrid		BioGRID10373536 |10551855 
|10627486 |10961856 
|11063725 |12210728 
|12239156 |12973351 
|15082718 
FANCCFA3 | FAC | FACC | FLJ14675Fanconi anemia, complementation group C-HPRD9742112 
FANCEFACE | FAEFanconi anemia, complementation group E-HPRD11157805 |12239156 
FANCEFACE | FAEFanconi anemia, complementation group EAffinity Capture-MS
Affinity Capture-Western
Reconstituted Complex
Two-hybrid		BioGRID11157805 |12093742 
|12239156 |12973351 
FANCFFAF | MGC126856Fanconi anemia, complementation group F-HPRD,BioGRID11063725 
FANCGFAG | XRCC9Fanconi anemia, complementation group GFANCA interacts with FANCG.BIND15138265 
FANCGFAG | XRCC9Fanconi anemia, complementation group G-HPRD10468603 |11050007 
FANCGFAG | XRCC9Fanconi anemia, complementation group GAffinity Capture-MS
Affinity Capture-Western
Co-purification
in vitro
in vivo
Reconstituted Complex
Two-hybrid		BioGRID10373536 |10468603 
|10468606 |10567393 
|10627486 |10652215 
|10961856 |11050007 
|11157805 |11739169 
|11918676 |12210728 
|12239156 |12649160 
|12973351 |14697762 
|15082718 |15138265 
|16189514 
FANCLFAAP43 | FLJ10335 | PHF9 | POGFanconi anemia, complementation group LAffinity Capture-MSBioGRID12973351 
GNB2-guanine nucleotide binding protein (G protein), beta polypeptide 2Two-hybridBioGRID14499622 
HPRT1HGPRT | HPRThypoxanthine phosphoribosyltransferase 1Two-hybridBioGRID14499622 
HSP90AA1FLJ31884 | HSP86 | HSP89A | HSP90A | HSP90N | HSPC1 | HSPCA | HSPCAL1 | HSPCAL4 | HSPN | Hsp89 | Hsp90 | LAP2heat shock protein 90kDa alpha (cytosolic), class A member 1Two-hybridBioGRID14499622 
HSP90B1ECGP | GP96 | GRP94 | TRA1heat shock protein 90kDa beta (Grp94), member 1Affinity Capture-MSBioGRID15082718 
IFIT3CIG-49 | GARG-49 | IFI60 | IFIT4 | IRG2 | ISG60 | RIG-Ginterferon-induced protein with tetratricopeptide repeats 3Two-hybridBioGRID14499622 
IKBKBFLJ40509 | IKK-beta | IKK2 | IKKB | MGC131801 | NFKBIKBinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta-HPRD,BioGRID12210728 
KRT1CK1 | EHK1 | K1 | KRT1Akeratin 1Two-hybridBioGRID14499622 
LIPGEDL | EL | PRO719lipase, endothelialTwo-hybridBioGRID14499622 
MKNK1MNK1MAP kinase interacting serine/threonine kinase 1Two-hybridBioGRID14499622 
MX1IFI-78K | IFI78 | MX | MxAmyxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)Two-hybridBioGRID14499622 
NAMPT1110035O14Rik | DKFZp666B131 | MGC117256 | PBEF | PBEF1 | VF | VISFATINnicotinamide phosphoribosyltransferaseTwo-hybridBioGRID14499622 
NUB1BS4 | NUB1L | NYREN18negative regulator of ubiquitin-like proteins 1Two-hybridBioGRID14499622 
PRPF31DKFZp566J153 | NY-BR-99 | PRP31 | RP11PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)Two-hybridBioGRID14499622 
PSMA5MGC117302 | MGC125802 | MGC125803 | MGC125804 | PSC5 | ZETAproteasome (prosome, macropain) subunit, alpha type, 5Two-hybridBioGRID14499622 
RMI1BLAP75 | C9orf76 | FLJ12888 | RP11-346I8.1RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)Affinity Capture-MSBioGRID12973351 
RPA1HSSB | REPA1 | RF-A | RP-A | RPA70replication protein A1, 70kDaAffinity Capture-MSBioGRID12973351 
RPL18-ribosomal protein L18Two-hybridBioGRID14499622 
SGK1SGKserum/glucocorticoid regulated kinase 1Two-hybridBioGRID14499622 
SMARCA4BAF190 | BRG1 | FLJ39786 | SNF2 | SNF2-BETA | SNF2L4 | SNF2LB | SWI2 | hSNF2bSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4-HPRD,BioGRID11726552 
SMARCC1BAF155 | CRACC1 | Rsc8 | SRG3 | SWI3SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1-HPRD11726552 
SMARCD3BAF60C | CRACD3 | MGC111010 | Rsc6pSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3-HPRD11726552 
SNX5FLJ10931sorting nexin 5-HPRD,BioGRID10600472 
SPTA1EL2 | SPTAspectrin, alpha, erythrocytic 1 (elliptocytosis 2)Affinity Capture-WesternBioGRID12571280 
SPTAN1(ALPHA)II-SPECTRIN | FLJ44613 | NEASspectrin, alpha, non-erythrocytic 1 (alpha-fodrin)Affinity Capture-Western
Co-purification		BioGRID10551855 |11401546 
|12571280 
TAF10TAF2A | TAF2H | TAFII30TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDaTwo-hybridBioGRID14499622 
TCERG1CA150 | MGC133200 | TAF2Stranscription elongation regulator 1Two-hybridBioGRID14499622 
TCP1CCT-alpha | CCT1 | CCTa | D6S230E | TCP-1-alphat-complex 1Two-hybridBioGRID14499622 
TOP3ATOP3topoisomerase (DNA) III alphaAffinity Capture-MSBioGRID12973351 
TPT1FLJ27337 | HRF | TCTP | p02tumor protein, translationally-controlled 1Two-hybridBioGRID14499622 
ZNF24KOX17 | RSG-A | ZNF191 | ZSCAN3 | Zfp191zinc finger protein 24Two-hybridBioGRID14499622 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID FANCONI PATHWAY 4728All SZGR 2.0 genes in this pathway
PID BARD1 PATHWAY 2919All SZGR 2.0 genes in this pathway
REACTOME FANCONI ANEMIA PATHWAY 2511All SZGR 2.0 genes in this pathway
REACTOME DNA REPAIR 11259All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 UP 201125All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER ZNF217 AMPLIFIED DN 335193All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 SIGNATURE 3 UP 341197All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
CHIN BREAST CANCER COPY NUMBER DN 1610All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
ROYLANCE BREAST CANCER 16Q COPY NUMBER UP 6344All SZGR 2.0 genes in this pathway
MATHEW FANCONI ANEMIA GENES 117All SZGR 2.0 genes in this pathway
SCHEIDEREIT IKK INTERACTING PROTEINS 5845All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479299All SZGR 2.0 genes in this pathway
PUJANA BREAST CANCER LIT INT NETWORK 10173All SZGR 2.0 genes in this pathway
PUJANA BRCA2 PCC NETWORK 423265All SZGR 2.0 genes in this pathway
KAUFFMANN MELANOMA RELAPSE UP 6125All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024594All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988594All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648385All SZGR 2.0 genes in this pathway
BENPORATH PROLIFERATION 14780All SZGR 2.0 genes in this pathway
SHIN B CELL LYMPHOMA CLUSTER 2 3023All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 16Q24 AMPLICON 5338All SZGR 2.0 genes in this pathway
NIKOLSKY MUTATED AND AMPLIFIED IN BREAST CANCER 9460All SZGR 2.0 genes in this pathway
VERNELL RETINOBLASTOMA PATHWAY UP 7047All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION DN 287208All SZGR 2.0 genes in this pathway
BILD E2F3 ONCOGENIC SIGNATURE 246153All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728415All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS REQUIRE MYC 210123All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP 648398All SZGR 2.0 genes in this pathway
MATZUK MEIOTIC AND DNA REPAIR 3926All SZGR 2.0 genes in this pathway
MATZUK SPERMATOCYTE 7255All SZGR 2.0 genes in this pathway
GRADE COLON CANCER UP 871505All SZGR 2.0 genes in this pathway
BLUM RESPONSE TO SALIRASIB DN 342220All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA C D UP 13995All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER ESR1 DN 240153All SZGR 2.0 genes in this pathway
SHEDDEN LUNG CANCER POOR SURVIVAL A6 456285All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR DN 185116All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR DN 277166All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS DN 8950All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S3 266180All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES UP 605377All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE S 16286All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR UP 324193All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570339All SZGR 2.0 genes in this pathway
KATSANOU ELAVL1 TARGETS DN 14888All SZGR 2.0 genes in this pathway