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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FANCA Gene

protein-coding GIFtS: 65
GCID: GC16M089803

Fanconi anemia, complementation group A

(Previous symbols: FACA, FANCH)

Explore 36 diseases affiliated with
FANCA via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Fanconi Anemia, Complementation Group A¹ ²		FA² ⁵
FAA¹ ² ³ ⁵		FA1² ⁵
FACA¹ ² ³ ⁵		Fanconi Anemia Group A Protein²
FANCH¹ ² ³		Fanconi Anemia, Complementation Group H²
FA-H¹ ²		Fanconi Anemia, Type 1²
FAH¹ ²		Protein FACA³

External Ids:	HGNC: 3582¹	Entrez Gene: 2175²	Ensembl: ENSG00000187741⁷	OMIM: 607139⁵	UniProtKB: O15360³

Export aliases for FANCA gene to outside databases

Previous GC identifers: GC16M081125 GC16M090792 GC16M089506 GC16M089547 GC16M088332 GC16M075499

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FANCA:

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 A. Alternative splicing results in multiple transcript variants encoding different isoforms.

Mutations in this gene are the most common cause of Fanconi anemia. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FANCA_HUMAN, O15360

Function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be

involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability

Gene Wiki entry for FANCA

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010542.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FANCA gene promoter:
Elk-1 GATA-3 Olf-1 LCR-F1 AP-2gamma POU2F1 COMP1 POU2F1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FANCA promoter sequence

Search SABiosciences Chromatin IP Primers for FANCA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FANCA

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24.3 Ensembl cytogenetic band: 16q24.3 HGNC cytogenetic band: 16q24.3

FANCA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FANCA gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M089803: view genomic region (about GC identifiers)

Start:	89,803,957 bp from pter	End:	89,883,065 bp from pter
Size:	79,109 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FANCA_HUMAN, O15360 (See protein sequence)

Recommended Name: Fanconi anemia group A protein

Size: 1455 amino acids; 162775 Da

Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and

FANCM. The complex is not found in FA patients. In complex with FANCF, FANCG and FANCL, but not with FANCC, nor FANCE,

interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex

proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. Interacts with FAAP20/C1orf86;

interaction is direct

Subcellular location: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic

Secondary accessions: A5D923 O75266 Q6PL10 Q92497 Q96H18 Q9UEA5 Q9UEL8 Q9UEL9 Q9UPK3 Q9Y6M2

Alternative splicing: 2 isoforms: O15360-1 O15360-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FANCA: NX_O15360

Post-translational modifications:

Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups

A, B, C, E, F, G, and H¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15360

FANCA Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000126.2 NP_001018122.1

ENSEMBL proteins:

ENSP00000373952 ENSP00000456829 ENSP00000456608 ENSP00000457006 ENSP00000454977

ENSP00000456481 ENSP00000455974 ENSP00000454217 ENSP00000456588 ENSP00000456993

ENSP00000457970 ENSP00000457027 ENSP00000456397 ENSP00000455969 ENSP00000456762

ENSP00000457647 ENSP00000373953 ENSP00000456443 ENSP00000443409 ENSP00000456722

ENSP00000455946 ENSP00000455941 ENSP00000443675

Reactome Protein details: O15360
Human Recombinant Protein Products:

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	Novus Biologicals FANCA Protein Novus Biologicals FANCA Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for FANCA

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	11726552
GO:0005654	nucleoplasm	TAS	--
GO:0005737	cytoplasm	IEA	--
GO:0043240	Fanconi anaemia nuclear complex	IDA	--

FANCA for ontologies About GeneDecksing

FANCA Antibody Products:

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	Uscn Antibodies for FANCA
	ThermoFisher Antibody for FANCA

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for FANCA

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

FANCA for domains About GeneDecksing

1 InterPro domain/family:

IPR003516 Fanconia

Graphical View of Domain Structure for InterPro Entry O15360

ProtoNet protein and cluster: O15360

1 Blocks protein family: IPB003516 Fanconi anaemia group A protein signature

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: FANCA_HUMAN, O15360

Function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be

involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability

Genatlas biochemistry entry for FANCA:

putative nuclear protein with a nuclear localization signal and partial b leucine-zipper,involved in genomic stability

and control of apoptosis,complexing with XRCC9

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		hsa-miR-145* hsa-miR-595 hsa-miR-138 hsa-miR-944 hsa-miR-335
		SwitchGear 3'UTR luciferase reporter plasmid: FANCA 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCA

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	11726552

FANCA for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for FANCA:

Increased gamma-H2AX phosphory

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Fanca^tm1Zqw for FANCA
12 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Fanca):

cardiovascular system	cellular	craniofacial	embryogenesis	endocrine/exocrine gland
growth/size	hematopoietic system	mortality/aging	reproductive system	skeleton
tumorigenesis	vision/eye

FANCA for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Fanconi Anemia pathway

	Fanconi Anemia pathway	1.00			BARD1 signaling events	0.23
	Fanconi's Anaemia Pathway	0.43

BRCA1 Pathway

BRCA1 Pathway

1.00

Nucleotide Excision Repair

DNA Repair

0.46

Chks in Checkpoint Regulation

DNA Repair Mechanisms

0.32

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for FANCA

	Fanconi's Anaemia Pathway
	BRCA1 Pathway
	DNA Repair Mechanisms

1 BioSystems Pathway for FANCA

BARD1 signaling events

2 Reactome Pathways for FANCA

	DNA Repair
	Fanconi Anemia pathway

FANCA for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for FANCA

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/96 Interacting proteins for FANCA (O15360^{1, 2, 3} ENSP00000373952⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 96)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FANCG	O15287¹^,²^,³, ENSP00000367910⁴	EBI-1959457,EBI-81610 MINT-4789325 MINT-19441 MINT-19440 MINT-4789189 MINT-68475 MINT-19452 MINT-4789226 MINT-19444 MINT-19447 I2D: score=8 STRING: ENSP00000367910
BRCA1	P38398²^,³, ENSP00000350283⁴	MINT-19477 MINT-51040 MINT-19476 MINT-8141024 I2D: score=4 STRING: ENSP00000350283
SMARCA4	P51532²^,³, ENSP00000350720⁴	MINT-19465 MINT-19464 MINT-19466 I2D: score=3 STRING: ENSP00000350720
FANCB	Q8NB91²^,³, ENSP00000326819⁴	MINT-4789189 MINT-4789226 I2D: score=1 STRING: ENSP00000326819
C17orf70	Q0VG06²^,³, ENSP00000333283⁴	MINT-4789089 MINT-4789189 MINT-4789226 MINT-4789325 I2D: score=2 STRING: ENSP00000333283

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006281	DNA repair	TAS	--
GO:0006461	protein complex assembly	TAS	9398857
GO:0007140	male meiosis	IEA	--
GO:0008584	male gonad development	IEA	--
GO:0008585	female gonad development	IEA	--

FANCA for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

FANCA for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FANCA
7 Novoseek chemical compound relationships for FANCA gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
diepoxybutane	84.2	2	12637330 (1)
mitomycin c	79.8	18	12637330 (2), 12444097 (2), 9345011 (2), 10936049 (1) (see all 11)
psoralen	31.4	2	11401546 (2)
leucine	28.6	4	11050007 (1), 8896563 (1), 9345010 (1), 11093276 (1)
alanine	2.83	2	11161829 (1)
cisplatin	0	1	15790592 (1)
h2o2	0	3	11161829 (1), 15138265 (1)

Search CenterWatch for drugs/clinical trials and news about FANCA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FANCA gene (2 alternative transcripts):

NM_000135.2 NM_001018112.1

Unigene Cluster for FANCA:

Fanconi anemia, complementation group A

Hs.744083 [show with all ESTs]

Unigene Representative Sequence: X99226

18/33 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 33):

ENST00000389301(uc002fou.1 uc010vpn.1) ENST00000568369 ENST00000561722

ENST00000562424 ENST00000567879 ENST00000564475 ENST00000564870 ENST00000568626

ENST00000564969 ENST00000305699(uc010vpo.2) ENST00000567988 ENST00000568983

ENST00000561660 ENST00000563510 ENST00000563318 ENST00000567205 ENST00000567457

ENST00000561667

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		5 QIAGEN miScript miRNA Assays for microRNAs that regulate FANCA:
		hsa-miR-145* hsa-miR-595 hsa-miR-138 hsa-miR-944 hsa-miR-335
		SwitchGear 3'UTR luciferase reporter plasmid: FANCA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FANCA

Additional cDNA sequence:

AK299282.1 AK301168.1 AY339878.1 AY339879.1 AY339880.1 BC008979.1 BC064540.1 BC120978.1

BC120979.1 BC127633.1 BC141971.1 BC141972.1 BT007366.1 X99226.1

24 DOTS entries:

DT.446662 DT.100795687 DT.100712272 DT.100029399 DT.100752051 DT.100795690 DT.100795692 DT.120714485

DT.429021 DT.120714397 DT.100795689 DT.120714563 DT.120714578 DT.100029396 DT.100642520 DT.100795691

DT.40132331 DT.86854426 DT.91649355 DT.92436710 DT.120714390 DT.120714398 DT.447264 DT.95071370

24/98 AceView cDNA sequences (see all 98):

CA309327 BQ427522 BU171044 CR601931 C00203 BU845493 BG036552 X99226

CD656606 AW502047 CB150064 BM546950 BE891556 BG255791 BE790858 BQ051638

CA454074 AW170465 BQ949613 CB129458 BM854554 NM_000135 AI197817 T35075

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for FANCA (see all 15) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10	^	11a	·	11b	·	11c	^	12	^	13	^	14	^	15a	·	15b	^	16	^	17a	·	17b	·	17c	·	17d	·
SP1:					-										-
SP2:															-
SP3:
SP4:
SP5:

ExUns:	17e	^	18a	·	18b	^	19a	·	19b	·	19c	^	20	^	21	^	22	^	23a	·	23b	^	24	^	25	^	26a	·	26b	^	27
SP1:
SP2:
SP3:													-
SP4:	-												-
SP5:													-				-

ECgene alternative splicing isoforms for FANCA

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FANCA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGCTCTTGT

About this image
See FANCA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FANCA

SOURCE GeneReport for Unigene cluster: Hs.744083

SABiosciences Expression via Pathway-Focused PCR Array including FANCA:

DNA Damage Signaling Pathway in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FANCA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for FANCA gene from 5/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Fanca^{1 , 5}	Fanconi anemia, complementation group A^{1, 5}	74.26(n)¹ 67.27(a)¹		8 (72.10 cM)⁵ 14087¹ NM_016925.3¹ NP_058621.2¹ 123268300⁵
chicken (Gallus gallus)	Aves	FANCA¹	Fanconi anemia, complementation group A	58.75(n) 50.29(a)		415854 NM_001134359.1 NP_001127831.1
lizard (Anolis carolinensis)	Reptilia	-- FANCA⁶	--	65(a) 43(a)	many → 1 many → 1	AAWZ02037213(6841-15201) GL344093.1(68842-74411)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.2946²	Transcribed sequence with weak similarity to protein more	81.58(n)		137697406
zebrafish (Danio rerio)	Actinopterygii	fanca¹	Fanconi anemia, complementation group A	49.87(n) 37.33(a)		692125 NM_001040635.1 NP_001035725.1

ENSEMBL Gene Tree for FANCA (if available)
TreeFam Gene Tree for FANCA (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17227487^1,2	C,	--	89803525(-)	`GGTATG/ACATTG`	3	--	ds500¹ int¹		1		NS	156
rs17233868^1,2	C,F,H,	--	89803629(-)	`AGGAAG/ACCGTA`	3	--	ds500¹ int¹		12		NS NA EA	958
rs2077155^1,2	C,F,A,	--	89803670(-)	`TTACAC/TGTGTG`	3	--	ds500¹ int¹		10		NS NA WA CSA	171
rs180978193^1,2		--	89803672(+)	`CACATA/GTAATC`	3	--	ds500¹ int¹		0	--	--	--	--
rs17233854^1,2	C,	--	89803687(-)	`CTCCCA/CAAGTG`	3	--	int¹ ds500¹		1		NS	156
rs189864445^1,2		--	89803695(+)	`GAGACC/TGAGGC`	3	--	ds500¹ int¹		0	--	--	--	--
rs8062319^1,2	C,F,	--	89803705(+)	`caggcA/Ggatca`	3	--	int¹ ds500¹		4		NA NS	160
rs140586707^1,2		--	89803760(+)	`CCTGTC/GTCTAC`	3	--	ds500¹ int¹		0	--	--	--	--
rs1961556^1,2	C,F,A,	--	89803762(+)	`TGTCTG/CTACTA`	3	--	int¹ ds500¹		6		NS NA WA CSA	164
rs3887194^1,2	C	--	89803772(-)	`tttgtA/Gttttt`	3	--	int¹ ds500¹		2		NA	24

HapMap Linkage Disequilibrium report for FANCA (89803957 - 89883065 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for FANCA
3 CNVs: 4019 4977 4978
3 Indels: 25751 42979 67087
Human Gene Mutation Database (HGMD): FANCA

Locus Specific Mutation Databases (LSDB): FANCA

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FANCA for disorders           About GeneDecksing

OMIM gene information: 607139
OMIM disorders: 227650
UniProtKB/Swiss-Prot: FANCA_HUMAN, O15360

Defects in FANCA are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal

recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a

predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to

DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair

20/36 diseases for FANCA (see all 36): About MalaCards

fanconi's anemia fanconi anemia, complementation group a anemia esophageal atresia/tracheoesophageal fistula

fanconi anemia, complementation group m tracheoesophageal fistula fanconi anemia, complementation group b esophageal atresia

oral squamous cell carcinoma seckel syndrome squamous cell carcinoma breast cancer susceptibility

breast cancer sporadic breast cancer bloom syndrome breast-ovarian cancer

acute myeloid leukemia dyskeratosis epithelial ovarian cancer pancytopenia

4 diseases from the University of Copenhagen DISEASES database for FANCA:

Bone marrow disease Anemia Autosomal recessive disease Genetic disorder

10/11 Novoseek disease relationships for FANCA gene (see all 11) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
fanconis anemia	97.7	56	9721219 (2), 16532972 (2), 15643609 (2), 11855836 (2) (see all 43)
congenital malformation	68.8	2	10364463 (1), 15860134 (1)
cancer	48.7	8	19012493 (2), 10364463 (1), 12351379 (1), 19861535 (1) (see all 5)
hnscc	45.6	1	16466850 (1)
anemia	44.8	6	11091222 (2), 15860134 (1), 15162062 (1), 12001267 (1) (see all 5)
t-all	29.3	2	10994546 (1)
breast cancer	24.1	4	12915460 (1), 19536649 (1), 14695169 (1)
carcinoma squamous cell	18	1	16982972 (1)
somatic mutations	11.5	2	9371798 (1)
necrosis	0	1	15299030 (1)

Genatlas disease: FANCA

Fanconi anemia,autosomal recessive,complementation group A,representing more than 50% of cases,with high frequency of

somatic mosaicism,characterized by progressive bone marrow failure (pancytopenia),often associated with skeletal

abnormalities and an increased cancer risk and with spontaneous chromosomal breakage exacerbated by exposure to DNA

cross-linking agents

GeneTests: FANCA

Fanconi Anemia

Genetic Association Database (GAD): FANCA
Human Genome Epidemiology (HuGE) Navigator: FANCA (23 documents)

Export disorders for FANCA gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for FANCA gene, integrated from 9 sources (see all 223):
(articles sorted by number of sources associating them with FANCA)

Utopia: connect your pdf to the dynamic
world of online information

A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. (PubMed id 10210316)^{1, 2, 9} Kupfer G.... D'Andrea A.D. (1999)
Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. (PubMed id 9721219)^{1, 2, 9} Centra M.... Savoia A. (1998)
High frequency of large intragenic deletions in the Fanconi anemia group A gene. (PubMed id 10521298)^{1, 2, 9} Morgan N.V.... Mathew C.G. (1999)
Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. (PubMed id 11091222)^{1, 2, 9} Tamary H....Zaizov R. (2000)
Sequence variation in the Fanconi anemia gene FAA. (PubMed id 9371798)^{1, 2, 9} Levran O.... Auerbach A.D. (1997)
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. (PubMed id 8896563)^{1, 2, 9} Lo Ten Foe J.R.... Joenje H. (1996)
A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer. (PubMed id 15860134)^{1, 4, 9} Thompson E....Dobrovic A. (2005)
The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). (PubMed id 15299030)^{1, 2, 9} Zhang X....Pang Q. (2004)
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia. (PubMed id 10807541)^{1, 2, 9} Yamada T....Sasaki M.S. (2000)
Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. (PubMed id 7581462)^{1, 3, 9} Pronk J.C....Jansen S. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2175	HGNC: 3582	AceView: FANCA	Ensembl:ENSG00000187741	euGenes: HUgn2175
ECgene: FANCA	H-InvDB: FANCA

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for FANCA	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for FANCA	Genetics and Cytogenetics in Oncology and Haematology
Fanconi Anemia Mutation Database	http://www.rockefeller.edu/fanconi/mutate/jumpa.html
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCA
NIEHS-SNPs	http://egp.gs.washington.edu/data/fanca/

Intellectual Property for FANCA gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FANCA gene:
Search GeneIP for patents involving FANCA

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Fanconi anemia, complementation group A

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FANCA Gene

Fanconi anemia, complementation group A

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