FANCL

GENE INFORMATION

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Gene name

FANCL (HGNC Symbol)

Synonyms

FAAP43, FLJ10335, PHF9, Pog

Description

Fanconi anemia, complementation group L (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 L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Chromosome

2 (Chromosome progress)

Cytoband

p16.1

Chromosome location (bp)

58386378 - 58468507

Ensembl

ENSG00000115392 (version 73.37)

Entrez gene

55120

UniProt

Q9NW38 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NW38

Antibodypedia

FANCL antibodies
 

PROTEIN VIEW

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FANCL-001
 
FANCL-002
 
FANCL-003
 
FANCL-004
 
FANCL-005
 
FANCL-006
 
FANCL-007
 
FANCL-009
 
FANCL-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)

FANCL-001 ENSP00000233741
ENST00000233741
Q9NW38
Show all »
Show » 375 42.9 No 0
FANCL-002 ENSP00000385021
ENST00000402135
Q9NW38
Show all »
Show » 380 43.4 No 0
FANCL-003 ENSP00000401280
ENST00000449070
C9JZA9
Show all »
Show » 301 34.1 No 0
FANCL-004 ENSP00000386097
ENST00000403295
B5MC31
Show all »
Show » 347 39.8 No 0
FANCL-005 ENSP00000389448
ENST00000417361
C9JPN7
Show all »
Show » 145 16.4 No 0
FANCL-006 ENSP00000384046
ENST00000403676
B5MCZ6
Show all »
Show » 258 29.4 No 0
FANCL-007 ENSP00000390991
ENST00000446381
C9J512
Show all »
Show » 158 17.9 No 0
FANCL-009 ENSP00000400969
ENST00000427708
288 32.7 No 0
FANCL-201 ENSP00000441431
ENST00000540646
B4DN24
Show all »
Show » 127 14.7 No 0