FANCL

GENERAL INFORMATION

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Gene name

FANCL

Gene description

Fanconi anemia, complementation group L

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

9
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA036685 , HPA036686 , CAB033842
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

p16.1

Chromosome location (bp)

58159243 - 58241372

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000115392 (version 78.38)

Entrez gene

55120

UniProt

Q9NW38 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NW38

Antibodypedia

FANCL antibodies


PROTEIN BROWSER

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ENST00000233741
 
ENST00000402135
 
ENST00000403295
 
ENST00000403676
 
ENST00000417361
 
ENST00000427708
 
ENST00000446381
 
ENST00000449070
 
ENST00000481670
 
 
 
 


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 » Show » 375 42.9 No 0
FANCL-002 ENSP00000385021
ENST00000402135
Q9NW38
Show all »
Show » Show » 380 43.4 No 0
FANCL-003 ENSP00000401280
ENST00000449070
C9JZA9
Show all »
Show » Show » 301 34.1 No 0
FANCL-004 ENSP00000386097
ENST00000403295
B5MC31
Show all »
Show » Show » 347 39.8 No 0
FANCL-005 ENSP00000389448
ENST00000417361
C9JPN7
Show all »
Show » Show » 145 16.4 No 0
FANCL-006 ENSP00000384046
ENST00000403676
B5MCZ6
Show all »
Show » Show » 258 29.4 No 0
FANCL-007 ENSP00000390991
ENST00000446381
C9J512
Show all »
Show » Show » 158 17.9 No 0
FANCL-008 ENSP00000483263
ENST00000481670
Show » 124 14.4 No 0
FANCL-009 ENSP00000400969
ENST00000427708
Show » 288 32.7 No 0