FANCD2

GENERAL INFORMATION

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Gene name

FANCD2

Gene description

Fanconi anemia, complementation group D2

Protein class

Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Tissue enhanced (testis)

Protein evidence

Evidence at protein level

Protein localization

Nuclear expression in squamous epithelia, placenta and testis.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data. Cytoplasmic positivity observed and disregarded. Pending retesting.

Data reliability

Uncertain based on 1 antibody.
CAB016117
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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

Placenta



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (testis)

Organ

Expression



GENE INFORMATION

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Gene name

FANCD2 (HGNC Symbol)

Synonyms

FA-D2, FACD, FAD, FANCD

Description

Fanconi anemia, complementation group D2 (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 D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Chromosome

3

Cytoband

p25.3

Chromosome location (bp)

10026414 - 10101930

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000144554 (version 78.38)

Entrez gene

2177

UniProt

Q9BXW9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BXW9

Antibodypedia

FANCD2 antibodies


PROTEIN BROWSER

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ENST00000287647
 
ENST00000383807
 
ENST00000419585
 
ENST00000431693
 
 
 
 


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)

FANCD2-001 ENSP00000287647
ENST00000287647
Q9BXW9
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Show » Show » 1471 166.5 No 0
FANCD2-002 ENSP00000398754
ENST00000419585
Q9BXW9
Show all »
Show » Show » 1451 164.1 No 0
FANCD2-003 ENSP00000399354
ENST00000431693
Q9BXW9
Show all »
Show » Show » 241 27.5 No 0
FANCD2-201 ENSP00000373318
ENST00000383807
Q9BXW9
Show all »
Show » Show » 1451 164.1 No 0