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FREM2 (NM_207361) - FRAS1 related extracellular matrix 2

Fras1-Related Extracellular Matrix Protein 2 Precursor

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of FREM2 protein.
FREM2: FRAS1-related extracellular matrix protein 2 precursor
Description:

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

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 :: BN000687.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142853 [ECO:0000348]

##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000280481.9/ ENSP00000280481.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Strand
+
Chromosome
13
Protein
3169 residues
All mutations
747
PTM sites
10
CDS
39,261,481 - 39,454,924
Transcription
39,261,172 - 39,461,267
17.42% of sequence is predicted to be disordered

Usage summary

Network

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Kinases group

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 341640
UniProt
Ensembl