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GENE AND PROTEIN SUMMARY

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Gene name

FANCL

Description

Fanconi anemia, complementation group L

Protein class

Mapped to UniProt SWISS-PROT

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

9 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Additional location(s)

 

Staining summary

No expression was observed in the three cell lines.

Reliability (APE)

N/A

Antibodies in assay

HPA036685, HPA036686
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Granular cytoplasmic expression in most tissues.

Tissue specificity

Expressed in 78 out of 81 cell types

Reliability (APE)

Medium

Antibodies in assay

CAB033842, HPA036685, HPA036686
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 83% of the cancers

Antibodies in assay

CAB033842, HPA036685, HPA036686
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA036685

HPA036686

A-431 Skin High

-

NegativeNegative
A-549 Lung High

-

CACO-2 Colon Medium

-

HEK 293 Embryonal kidney High

-

HeLa Cervix High

-

Hep-G2 Liver High

-

MCF-7 Pleural effusion Medium

-

PC-3 Bone marrow Low

-

RT-4 Urinary bladder High

-

U-2 OS Bone High

-

Negative
U-251 MG Brain High

-

NegativeNegative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB033842 pAb
HPA036685 pAb
HPA036686 pAb