CFH

GENERAL INFORMATION

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Gene name

CFH

Gene description

Complement factor H

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Distinct positivity in plasma and extracellular matrix.

ANTIBODY RELIABILITY

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Data reliability
description

Secreted protein, tissue location of RNA and protein might differ and correlation is complex. Antibody staining in cells/structures not annotated, view images.

Data reliability

Supportive based on 5 antibodies.
HPA038922 , HPA049176 , HPA053326 , CAB016385 , CAB016769
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Duodenum

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

CFH (HGNC Symbol)

Synonyms

ARMD4, ARMS1, FHL1, HF, HF1, HF2, HUS

Description

Complement factor H (HGNC Symbol)

Entrez gene summary

This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

Chromosome

1

Cytoband

q31.3

Chromosome location (bp)

196651878 - 196747504

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000000971 (version 78.38)

Entrez gene

3075

UniProt

P08603 (UniProt - Evidence at protein level)

neXtProt

NX_P08603

Antibodypedia

CFH antibodies


PROTEIN BROWSER

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ENST00000359637
 
ENST00000367429
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CFH-001 ENSP00000356399
ENST00000367429
P08603
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Show » Show » 1231 139.1 Yes 0
CFH-002 ENSP00000352658
ENST00000359637
Q5TFM2
Show all »
Show » 385 43.8 Yes 0