Cell atlas - FANCD2 - The Human Protein Atlas

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FANCD2

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol
	Nuclear bodies
	Nucleus

Human cell
	Cytosol
	Nucleoplasm

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GENERAL INFORMATION
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	5
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the nucleus. In addition localized to the cytosol & nuclear bodies.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Nucleus (supported)
Additional location	In addition localized to the Nuclear bodies (supported), Cytosol (uncertain)
Single-cell variation	Single-cell variation in protein expression observed.

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA063742
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the nucleus. In addition localized to the cytosol & nuclear bodies.

Main location

Nucleus (supported)

Additional location

Nuclear bodies (supported), Cytosol (uncertain)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA063742	A549	Nucleus	Intensity
			Nucleoli
			Cytosol
	HPA063742	SiHa	Nucleus	Intensity
			Nuclear bodies	Intensity
			Cytosol
	HPA063742	U-2 OS	Nucleus	Intensity
			Nuclear bodies	Intensity
			Cytosol

GENE INFORMATION
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 83.38)
Entrez gene	2177
UniProt	Q9BXW9 (UniProt - Evidence at protein level)
neXtProt	NX_Q9BXW9
Antibodypedia	FANCD2 antibodies

PROTEIN BROWSER

FANCD2-001	FANCD2-002	FANCD2-003	FANCD2-201	FANCD2-202

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
FANCD2-001 ENSP00000287647 ENST00000287647	Q9BXW9 [Direct mapping] Fanconi anemia group D2 protein Show all	MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000793 [condensed chromosome] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005794 [Golgi apparatus] GO:0006281 [DNA repair] GO:0006974 [cellular response to DNA damage stimulus] GO:0007129 [synapsis] GO:0007276 [gamete generation] GO:0010332 [response to gamma radiation] GO:0036297 [interstrand cross-link repair] GO:0043231 [intracellular membrane-bounded organelle] GO:0070182 [DNA polymerase binding] Show all	1471 aa 166.5 kDa	No	0
FANCD2-002 ENSP00000398754 ENST00000419585	Q9BXW9 [Direct mapping] Fanconi anemia group D2 protein A0A024R2G2 [Target identity:100%; Query identity:100%] Fanconi anemia, complementation group D2, isoform CRA_b Show all	MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005794 [Golgi apparatus] GO:0006281 [DNA repair] GO:0010332 [response to gamma radiation] GO:0036297 [interstrand cross-link repair] GO:0043231 [intracellular membrane-bounded organelle] GO:0070182 [DNA polymerase binding] Show all	1451 aa 164.1 kDa	No	0
FANCD2-003 ENSP00000399354 ENST00000431693	Q9BXW9 [Direct mapping] Fanconi anemia group D2 protein Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005794 [Golgi apparatus] GO:0006281 [DNA repair] GO:0010332 [response to gamma radiation] GO:0036297 [interstrand cross-link repair] GO:0043231 [intracellular membrane-bounded organelle] GO:0070182 [DNA polymerase binding] Show all	241 aa 27.5 kDa	No	0
FANCD2-201 ENSP00000373318 ENST00000383807	Q9BXW9 [Direct mapping] Fanconi anemia group D2 protein A0A024R2G2 [Target identity:100%; Query identity:100%] Fanconi anemia, complementation group D2, isoform CRA_b Show all	MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005794 [Golgi apparatus] GO:0006281 [DNA repair] GO:0010332 [response to gamma radiation] GO:0036297 [interstrand cross-link repair] GO:0043231 [intracellular membrane-bounded organelle] GO:0070182 [DNA polymerase binding] Show all	1451 aa 164.1 kDa	No	0
FANCD2-202 ENSP00000486945 ENST00000625535	F8WE37 [Direct mapping] Fanconi anemia group D2 protein Show all	Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all		38 aa 4.2 kDa	No	0

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.