CFHR4

CFHR4

Identifiers

CFHR4, CFHL4, FHR-4, FHR4, complement factor H related 4

External IDs

OMIM: 605337; GeneCards: CFHR4

Gene location (Human)

Chr.	Chromosome 1 (human)

Band	1q31.3	Start	196,888,014 bp
Band	1q31.3	End	196,918,713 bp

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

right lobe of liver

testicle

gonad

apex of heart

ventricular zone

tibial nerve

lymph node

urinary bladder

superior frontal gyrus

muscle of thigh

n/a

More reference expression data

n/a

Gene ontology
Molecular function	lipid transporter activity
Cellular component	extracellular region
Biological process	lipid transport regulation of complement activation
Sources:Amigo / QuickGO

Databases

NCBI: entry; OMA: entry

Species

Human

Mouse


10877


n/a


ENSG00000134365


n/a


Q92496


n/a

RefSeq (mRNA)


NM_001201550 NM_001201551 NM_006684


n/a

RefSeq (protein)


NP_001188479 NP_001188480 NP_006675


n/a

Location (UCSC)

Chr 1: 196.89 – 196.92 Mb

n/a

PubMed search

n/a

View/Edit Human

Complement factor H-related protein 4 is a protein that in humans is encoded by the CFHR4 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000134365 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Skerka C, Hellwage J, Weber W, Tilkorn A, Buck F, Marti T, Kampen E, Beisiegel U, Zipfel PF (Apr 1997). "The human factor H-related protein 4 (FHR-4). A novel short consensus repeat-containing protein is associated with human triglyceride-rich lipoproteins". J Biol Chem. 272 (9): 5627–34. doi:10.1074/jbc.272.9.5627. PMID 9038172.
↑ Diaz-Guillen MA, Rodriguez de Cordoba S, Heine-Suner D (Jul 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.
↑ "Entrez Gene: CFHR4 complement factor H-related 4".

Further reading

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.
Józsi M, Richter H, Löschmann I, et al. (2005). "FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene". Eur. J. Hum. Genet. 13 (3): 321–9. doi:10.1038/sj.ejhg.5201324. PMID 15562282.
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.
Hellwage J, Jokiranta TS, Koistinen V, et al. (2000). "Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin". FEBS Lett. 462 (3): 345–52. doi:10.1016/S0014-5793(99)01554-9. PMID 10622723.
Hellwage J, Skerka C, Zipfel PF (1998). "Biochemical and functional characterization of the factor-H-related protein 4 (FHR-4)". Immunopharmacology. 38 (1–2): 149–57. doi:10.1016/S0162-3109(97)00075-1. PMID 9476126.

External links

GeneReviews/NCBI/NIH/UW entry on Atypical Hemolytic-Uremic Syndrome
OMIM entries on Atypical Hemolytic-Uremic Syndrome
Human CFHR4 genome location and CFHR4 gene details page in the UCSC Genome Browser.

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