CFHR2

This gene belongs to a family of complement factor H-related genes (CFHR), which are clustered together with complement factor H gene on chromosome 1, and are involved in regulation of complement. Mutations in CFHR genes have been associated with dense deposit disease and atypical haemolytic-uraemic syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]

Description

Complement factor H related 2

Tissue specificity

Tissue enriched (liver)

Predicted location

Secreted to blood

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (196943738 - 196959622)

Ensembl ID

ENSG00000080910  (ver. 103.38)

Orthologs

-

UniProt

P36980

neXtProt

NX_P36980

Human splice variants

Protein structure