Tissue expression of FANCA - Summary - The Human Protein Atlas

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
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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

Caudate

N/A

Cerebellum

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

Bronchus

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

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

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

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