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FBN2 (NM_001999) - fibrillin 2

Fibrillin-2 Precursor

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of FBN2 protein.
FBN2: fibrillin-2 precursor
Description:

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].

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: U03272.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350]

##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000262464.9/ ENSP00000262464.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Strand
-
Chromosome
5
Protein
2912 residues
All mutations
1016
PTM sites
24
CDS
127,595,146 - 127,873,296
Transcription
127,593,600 - 127,873,735
12.71% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2201
UniProt
Ensembl