FANCA

GENE INFORMATION

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Gene name

FANCA (HGNC Symbol)

Synonyms

FA-H, FAA, FACA, FAH, FANCH

Description

Fanconi anemia, complementation group A (HGNC Symbol)

Entrez gene summary

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]

Chromosome

16 (Chromosome progress)

Cytoband

q24.3

Chromosome location (bp)

89803957 - 89883065

Ensembl

ENSG00000187741 (version 73.37)

Entrez gene

2175

UniProt

O15360 (UniProt - Evidence at protein level)

neXtProt

NX_O15360

Antibodypedia

FANCA antibodies
 

PROTEIN VIEW

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 « 
 
FANCA-001
 
FANCA-002
 
FANCA-003
 
FANCA-004
 
FANCA-006
 
FANCA-007
 
FANCA-008
 
FANCA-010
 
FANCA-011
 
FANCA-012
 
FANCA-013
 
FANCA-016
 
FANCA-019
 
FANCA-020
 
FANCA-021
 
FANCA-022
 
FANCA-023
 
FANCA-026
 
FANCA-027
 
FANCA-028
 
FANCA-030
 
FANCA-201
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FANCA-001 ENSP00000373952
ENST00000389301
O15360
Show all »
Show » Show » 1455 162.8 No 1
FANCA-002 ENSP00000456829
ENST00000568369
H3BSR5
Show all »
Show » Show » 1424 159.1 No 1
FANCA-003 ENSP00000373953
ENST00000389302
O15360
Show all »
Show » Show » 297 33 No 0
FANCA-004 ENSP00000443409
ENST00000543736
Q0VAP4
Show all »
Show » 265 29.2 No 0
FANCA-006 ENSP00000456443
ENST00000563673
H3BRX3
Show all »
Show » 316 35 No 0
FANCA-007 ENSP00000457647
ENST00000566409
Show » 41 4.2 No 0
FANCA-008 ENSP00000457027
ENST00000567205
H3BT53
Show all »
Show » Show » 63 6.4 Yes 0
FANCA-010 ENSP00000455941
ENST00000567943
H3BQU1
Show all »
Show » 158 16.6 No 0
FANCA-011 ENSP00000455946
ENST00000563513
H3BQU6
Show all »
Show » 114 12.4 No 0
FANCA-012 ENSP00000456722
ENST00000565582
H3BSI9
Show all »
Show » 210 23.1 No 0
FANCA-013 ENSP00000456762
ENST00000567621
Show » 125 14 No 0
FANCA-016 ENSP00000455969
ENST00000567510
H3BQW7
Show all »
Show » 101 11.3 No 0
FANCA-019 ENSP00000456993
ENST00000563510
Show » 51 5.8 No 0
FANCA-020 ENSP00000457970
ENST00000563318
Show » 77 9 No 0
FANCA-021 ENSP00000454217
ENST00000567988
Show » 109 12.6 No 0
FANCA-022 ENSP00000456588
ENST00000561660
Show » 182 20.6 No 0
FANCA-023 ENSP00000455974
ENST00000568626
Show » 168 19.3 Yes 0
FANCA-026 ENSP00000457006
ENST00000567879
H3BT40
Show all »
Show » 214 23.8 No 1
FANCA-027 ENSP00000456608
ENST00000561722
H3BSA3
Show all »
Show » 195 21.4 No 0
FANCA-028 ENSP00000454977
ENST00000564475
Show » 240 26.6 No 0
FANCA-030 ENSP00000456481
ENST00000564870
Show » 153 17.2 No 0
FANCA-201 ENSP00000443675
ENST00000534992
F5H8D5
Show all »
Show » 302 33.4 No 0