CFHR2

Protein-coding gene in the species Homo sapiens
CFHR2
Available structures
PDBHuman UniProt search: PDBe RCSB
List of PDB id codes

3ZD1, 5EA0

Identifiers
AliasesCFHR2, CFHL2, FHR2, HFL3, complement factor H related 2
External IDsOMIM: 600889; HomoloGene: 130536; GeneCards: CFHR2; OMA:CFHR2 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for CFHR2
Genomic location for CFHR2
Band1q31.3Start196,943,738 bp[1]
End196,959,622 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right lobe of liver

  • parietal pleura

  • mucosa of paranasal sinus

  • palpebral conjunctiva

  • skin of arm

  • buccal mucosa cell

  • gonad

  • testicle

  • visceral pleura

  • germinal epithelium
    n/a
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein binding
  • protein homodimerization activity
  • protein heterodimerization activity
Cellular component
  • extracellular region
  • protein-containing complex
Biological process
  • regulation of complement activation
  • negative regulation of protein binding
  • positive regulation of cytolysis
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3080

n/a

Ensembl

ENSG00000080910

n/a

UniProt

P36980

n/a

RefSeq (mRNA)

NM_001312672
NM_005666

n/a

RefSeq (protein)

NP_001299601
NP_005657

n/a

Location (UCSC)Chr 1: 196.94 – 196.96 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Complement factor H-related protein 2 is a protein that in humans is encoded by the CFHR2 gene.[3][4][5]


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000080910 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ Skerka C, Timmann C, Horstmann RD, Zipfel PF (Jun 1992). "Two additional human serum proteins structurally related to complement factor H. Evidence for a family of factor H-related genes". J Immunol. 148 (10): 3313–8. doi:10.4049/jimmunol.148.10.3313. PMID 1533657. S2CID 25372557.
  4. ^ Skerka C, Moulds JM, Taillon-Miller P, Hourcade D, Zipfel PF (Oct 1995). "The human factor H-related gene 2 (FHR2): structure and linkage to the coagulation factor XIIIb gene". Immunogenetics. 42 (4): 268–74. doi:10.1007/bf00176444. PMID 7672821. S2CID 19760957.
  5. ^ "Entrez Gene: CFHR2 complement factor H-related 2".

External links

  • Human CFHR2 genome location and CFHR2 gene details page in the UCSC Genome Browser.
  • Overview of all the structural information available in the PDB for UniProt: P36980 (Complement factor H-related protein 2) at the PDBe-KB.

Further reading

  • Zipfel PF, Skerka C (1994). "Complement factor H and related proteins: an expanding family of complement-regulatory proteins?". Immunol. Today. 15 (3): 121–6. doi:10.1016/0167-5699(94)90155-4. PMID 8172644.
  • Hageman GS, Hancox LS, Taiber AJ, et al. (2007). "Extended Haplotypes in the Complement Factor H (CFH) and CFH-related (CFHR) Family of Genes that Protect against Age-related Macular Degeneration: Identification, Ethnic Distribution and Evolutionary Implications". Ann. Med. 38 (8): 592–604. doi:10.1080/07853890601097030. PMC 1905836. PMID 17438673.
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Díaz-Guillén MA, Rodríguez de Córdoba S, Heine-Suñer D (1999). "A radiation hybrid map of complement factor H and factor H-related genes". Immunogenetics. 49 (6): 549–52. doi:10.1007/s002510050534. PMID 10380701. S2CID 31776506.
  • Skerka C, Horstmann RD, Zipfel PF (1991). "Molecular cloning of a human serum protein structurally related to complement factor H". J. Biol. Chem. 266 (18): 12015–20. doi:10.1016/S0021-9258(18)99058-7. PMID 1711047.


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