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Gene name

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Chromosome

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Reliability

Reliability

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Method

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FANCA
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TISSUE ATLAS

GENE/PROTEIN

Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

FANCA

Gene description

Fanconi anemia, complementation group A

Protein class

Cancer-related genes
Disease related genes
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

10
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Mixed
GTEx:Tissue enriched (testis)
FANTOM5:Tissue enhanced (testis, tonsil)

Protein evidence

Evidence at protein level

DATA RELIABILITY

Reliability score

Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
N/A
Cerebral cortex
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Thyroid gland
N/A
Parathyroid gland
N/A
Adrenal gland
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Bone marrow
N/A
Lymph node
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Heart muscle
N/A
Skeletal muscle
N/A
Smooth muscle
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Gallbladder
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Salivary gland
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Small intestine
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
Prostate
N/A
Seminal vesicle
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
Endometrium
N/A
Fallopian tube
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Adipose tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW

Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis, tonsil)

GENE INFORMATION

Gene name

FANCA (HGNC Symbol)

Synonyms

FA-H, FAA, FACA, FAH, FANCH

Description

Fanconi anemia, complementation group A (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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]

Chromosome

16

Cytoband

q24.3

Chromosome location (bp)

89737549 - 89816657

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000187741 (version 83.38)

Entrez gene

2175

UniProt

O15360 (UniProt - Evidence at protein level)

neXtProt

NX_O15360

Antibodypedia

FANCA antibodies

PROTEIN BROWSER

FANCA-001
FANCA-002
FANCA-003
FANCA-004
FANCA-006
FANCA-026
FANCA-027
FANCA-028
FANCA-030
FANCA-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FANCA-001
ENSP00000373952
ENST00000389301
O15360 [Direct mapping]
Fanconi anemia group A protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   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:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006461 [protein complex assembly]
GO:0007140 [male meiosis]
GO:0008584 [male gonad development]
GO:0008585 [female gonad development]
GO:0036297 [interstrand cross-link repair]
GO:0042127 [regulation of cell proliferation]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
1455 aa
162.8 kDa
No 1
FANCA-002
ENSP00000456829
ENST00000568369
O15360 [Direct mapping]
Fanconi anemia group A protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   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:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006461 [protein complex assembly]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
1424 aa
159.1 kDa
No 1
FANCA-003
ENSP00000373953
ENST00000389302
O15360 [Direct mapping]
Fanconi anemia group A protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   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:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0006281 [DNA repair]
GO:0006461 [protein complex assembly]
GO:0036297 [interstrand cross-link repair]
GO:0043240 [Fanconi anaemia nuclear complex]
Show all
297 aa
33 kDa
No 0
FANCA-004
ENSP00000443409
ENST00000543736
Q0VAP4 [Direct mapping]
FANCA protein; Fanconi anemia group A protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
265 aa
29.2 kDa
No 0
FANCA-006
ENSP00000456443
ENST00000563673
H3BRX3 [Direct mapping]
Fanconi anemia group A protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
316 aa
35 kDa
No 0
FANCA-026
ENSP00000457006
ENST00000567879
H3BT40 [Direct mapping]
Fanconi anemia group A protein
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
214 aa
23.8 kDa
No 1
FANCA-027
ENSP00000456608
ENST00000561722
H3BSA3 [Direct mapping]
Fanconi anemia group A protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
195 aa
21.4 kDa
No 0
FANCA-028
ENSP00000454977
ENST00000564475
H3BNS0 [Direct mapping]
Fanconi anemia group A protein
Show all
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted secreted proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
240 aa
26.6 kDa
No 0
FANCA-030
ENSP00000456481
ENST00000564870
H3BS03 [Direct mapping]
Fanconi anemia group A protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
153 aa
17.2 kDa
No 0
FANCA-201
ENSP00000443675
ENST00000534992
F5H8D5 [Direct mapping]
Fanconi anemia group A protein
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
302 aa
33.4 kDa
No 0

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The Human Protein Atlas project is funded
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