Product Details

Full Product Name

Rabbit anti-Homo sapiens (Human) FBN2 Polyclonal antibody

Uniprot No.

P35556

Target Names

FBN2

Alternative Names

CCA antibody; congenital contractural arachnodactyly (Marfanoid-like) antibody; DA9 antibody; FBN2 antibody; FBN2_HUMAN antibody; fibrillin 2 (congenital contractural arachnodactyly) antibody; Fibrillin-2 antibody

Raised in

Rabbit

Species Reactivity

Human

Immunogen

Recombinant Human Fibrillin-2 protein (304-484AA)

Immunogen Species

Homo sapiens (Human)

Conjugate

FITC

Clonality

Polyclonal

Isotype

IgG

Purification Method

>95%, Protein G purified

Concentration

It differs from different batches. Please contact us to confirm it.

Buffer

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4

Form

Liquid

Troubleshooting and FAQs

Antibody FAQs

Storage

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.

Lead Time

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Target Background

Function

Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.; Hormone secreted by trophoblasts that promotes trophoblast invasiveness. Has glucogenic activity: is able to increase plasma glucose levels.

Gene References into Functions

Case Report: femoral aneurysm in patient with FBN2 mutation. PMID: 29742989
Sequencing analysis showed a novel missense mutation in exon 30 of FBN2 gene [c.3973G>A, p.Asp1325Asn; Chr5 (g.127670862C>T) according to NM_001999.3] PMID: 29864108
Decellularized lung scaffolds treated with FBN-2 and TN-C prior to re-epithelialization supported greater epithelial proliferation and tissue remodeling. PMID: 28662401
BAV patients have an increased FBN (especially FBN2) gene expression level in the ascending aorta, irrespective of dilatation, whereas MMP expression does not change significantly. PMID: 27634926
A novel missense mutation, c.3769T>C (p.C1257R) in FBN2 was identified responsible for the genetic cause in a family with congenital contractural arachnodactyly. PMID: 27196565
Study described a novel mutation seen in a family with three generations of congenital contractural arachnodactyly (CCA). Whole exome sequencing in two affected individuals identified a novel missense mutation in the FBN2 gene in all affected family members. PMID: 28379158
The presence of the splice site mutation in FBN2 gene has been confirmed in a Japanese family with congenital contractural arachnodactyly complicated with aortic dilatation and dissection. PMID: 25975422
DNA sequence variation within the FBN2 gene is associated with both Achilles tendon (AT) and anterior cruciate ligament (ACL) rupture. PMID: 25429546
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. PMID: 24899048
There was no association of overall methylation of FBN2 in the serum DNA with age, maximal tumor size, extent of tumor, tumor site, histology, presence of lymph node metastasis, distant metastasis, or Dukes' stage. PMID: 23060561
Data demonstrated that N-terminal fibrillin-2 epitopes are masked in postnatal microfibrils. PMID: 20404337
Data show that in wound healing and sclerotic skin diseases, a marked increase of fibrillin-2 expression was found by immunohistology. PMID: 20195245
Ten novel mutations have been identified in the critical region of FBN2, indicating a mutation detection rate of 75% in this limited region; none of the mutations altered amino acids in the calcium binding consensus sequence of EGF-like domains. PMID: 11754102
fibrillins can directly interact in an N- to C-terminal fashion to form homotypic fibrillin-1 or heterotypic fibrillin-1/fibrillin-2 microfibrils PMID: 12399449
there are distinct functions for fibrillin-2 in peripheral nerves PMID: 12429739
Relaxin regulates its mRNA and protein expression by human dermal fibroblasts and murine fetal skin PMID: 12590922
No associations of intracranial aneurysm and FBN2 were found. PMID: 12750963
A comprehensive genetic analysis of FBN2 was performed in patients with Marfan syndrome or Marfan-related phenotypes. PMID: 16835936
In 14 probands, 13 new and one previously described FBN2 mutation including a mutation in exon 17, expanding the region in which FBN2 mutations occur in CCA. PMID: 19006240
Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma. PMID: 19288010
EGFR, fibrillin-2, P-cadherin and AP2beta as biomarkers for rhabdomyosarcoma diagnostics. PMID: 19469909
A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly is reported. PMID: 19473076
Examine association between FBN2 SNPs and intracranial aneurysms in Japanese cohort. PMID: 19506372

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Involvement in disease

Arthrogryposis, distal, 9 (DA9); Macular degeneration, early-onset (EOMD)

Subcellular Location

Secreted.; [Fibrillin-2]: Secreted, extracellular space, extracellular matrix.; [Placensin]: Secreted.

Protein Families

Fibrillin family

Tissue Specificity

Almost exclusively expressed in placenta. Expressed at much lower level in other tissues. Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch's membrane and in the sclera. Not expressed in the neural retina.; [Plac

Database Links

HGNC: 3604

OMIM: 121050

KEGG: hsa:2201

STRING: 9606.ENSP00000262464

UniGene: Hs.519294