Tissue expression of FBN2 - Summary - The Human Protein Atlas

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FBN2

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TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	FBN2
Gene description	Fibrillin 2
Protein class	Cancer-related genes Disease related genes Plasma proteins Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (placenta)
GTEx:	Tissue enhanced (adrenal gland, testis)
FANTOM5:	Tissue enriched (placenta)

Protein evidence

Evidence at protein level

Protein expression

Selective expression in placental trophoblasts as well as extracellular fibers and basement membranes in several tissues including in placenta and testis.

DATA RELIABILITY
Data reliability description	Antibody staining consistent with RNA expression data.
Reliability score	Supported based on 2 antibodies. HPA012853 , CAB026401
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (placenta)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (adrenal gland, testis)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (placenta)

GENE INFORMATION
Gene name	FBN2 (HGNC Symbol)
Synonyms	CCA, DA9
Description	Fibrillin 2 (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
Chromosome	5
Cytoband	q23.3
Chromosome location (bp)	128257909 - 128659185
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000138829 (version 83.38)
Entrez gene	2201
UniProt	P35556 (UniProt - Evidence at protein level)
neXtProt	NX_P35556
Antibodypedia	FBN2 antibodies

PROTEIN BROWSER

FBN2-001	FBN2-004	FBN2-005	FBN2-006	FBN2-201	FBN2-202	FBN2-203

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
FBN2-001 ENSP00000424571 ENST00000508053	P35556 [Direct mapping] Fibrillin-2 Show all	THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0001527 [microfibril] GO:0005201 [extracellular matrix structural constituent] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0022617 [extracellular matrix disassembly] GO:0030023 [extracellular matrix constituent conferring elasticity] GO:0030198 [extracellular matrix organization] GO:0030326 [embryonic limb morphogenesis] GO:0030501 [positive regulation of bone mineralization] GO:0031012 [extracellular matrix] GO:0035108 [limb morphogenesis] GO:0035583 [sequestering of TGFbeta in extracellular matrix] GO:0043010 [camera-type eye development] GO:0045669 [positive regulation of osteoblast differentiation] GO:0048048 [embryonic eye morphogenesis] GO:0060346 [bone trabecula formation] GO:0090287 [regulation of cellular response to growth factor stimulus] Show all	2912 aa 314.8 kDa	Yes	0
FBN2-004 ENSP00000424753 ENST00000502468	E9PHW4 [Direct mapping] Fibrillin-2 Show all	MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005578 [proteinaceous extracellular matrix] GO:0090287 [regulation of cellular response to growth factor stimulus] Show all	341 aa 36.8 kDa	Yes	0
FBN2-005 ENSP00000425596 ENST00000508989	D6RJI3 [Direct mapping] Fibrillin-2 Show all	MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005578 [proteinaceous extracellular matrix] GO:0090287 [regulation of cellular response to growth factor stimulus] Show all	1473 aa 157.7 kDa	Yes	0
FBN2-006 ENSP00000426839 ENST00000507835	D6REJ2 [Direct mapping] Fibrillin-2 Show all	Predicted intracellular proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005578 [proteinaceous extracellular matrix] GO:0090287 [regulation of cellular response to growth factor stimulus] Show all	356 aa 38.5 kDa	No	0
FBN2-201 ENSP00000262464 ENST00000262464	P35556 [Direct mapping] Fibrillin-2 Show all	THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Mutational cancer driver genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001527 [microfibril] GO:0005201 [extracellular matrix structural constituent] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005578 [proteinaceous extracellular matrix] GO:0022617 [extracellular matrix disassembly] GO:0030023 [extracellular matrix constituent conferring elasticity] GO:0030198 [extracellular matrix organization] GO:0030501 [positive regulation of bone mineralization] GO:0031012 [extracellular matrix] GO:0035583 [sequestering of TGFbeta in extracellular matrix] GO:0043010 [camera-type eye development] GO:0045669 [positive regulation of osteoblast differentiation] GO:0048048 [embryonic eye morphogenesis] GO:0060346 [bone trabecula formation] GO:0090287 [regulation of cellular response to growth factor stimulus] Show all	2912 aa 314.8 kDa	Yes	0
FBN2-202 ENSP00000482132 ENST00000619499	A0A087WYV8 [Direct mapping] Fibrillin-2 Show all	THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005578 [proteinaceous extracellular matrix] GO:0090287 [regulation of cellular response to growth factor stimulus] Show all	2911 aa 314.7 kDa	Yes	0
FBN2-203 ENSP00000479157 ENST00000620257	A0A087WV40 [Direct mapping] Fibrillin-2 Show all	MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes Mutational cancer driver genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005201 [extracellular matrix structural constituent] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005578 [proteinaceous extracellular matrix] GO:0090287 [regulation of cellular response to growth factor stimulus] Show all	276 aa 30 kDa	Yes	0

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The Human Protein Atlas

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