Format

Send to:

Choose Destination

CFHR3 complement factor H related 3 [ Homo sapiens (human) ]

Gene ID: 10878, updated on 27-Sep-2020

Summary

Official Symbol
CFHR3provided by HGNC
Official Full Name
complement factor H related 3provided by HGNC
Primary source
HGNC:HGNC:16980
See related
Ensembl:ENSG00000116785 MIM:605336
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FHR3; HLF4; CFHL3; FHR-3; DOWN16
Summary
The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Expression
Restricted expression toward liver (RPKM 41.2) See more
Orthologs

Genomic context

See CFHR3 in Genome Data Viewer
Location:
1q31.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (196774816..196795407)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196743925..196763203)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene potassium sodium-activated channel subfamily T member 2 Neighboring gene microRNA 4735 Neighboring gene complement factor H Neighboring gene complement factor H-related protein 3-like Neighboring gene complement factor H related 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Age-related macular degeneration 1
MedGen: C1864205 OMIM: 603075 GeneReviews: Not available
Compare labs
Atypical hemolytic-uremic syndrome 1 Compare labs
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
GeneReviews: Not available
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
GeneReviews: Not available
Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
complement factor H-related protein 3
Names
H factor-like 4
H factor-like protein 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015993.1 RefSeqGene

    Range
    5001..24274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_175

mRNA and Protein(s)

  1. NM_001166624.2NP_001160096.1  complement factor H-related protein 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001160096.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.
    Source sequence(s)
    AK298459, AL049741, BC058009, BG618529
    Consensus CDS
    CCDS53453.1
    UniProtKB/Swiss-Prot
    Q02985
    Related
    ENSP00000375845.3, ENST00000391985.7
    Conserved Domains (2) summary
    cd00033
    Location:149204
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    pfam00084
    Location:2682
    Sushi; Sushi repeat (SCR repeat)
  2. NM_021023.6NP_066303.2  complement factor H-related protein 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_066303.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL049741, BC058009, BG618529
    Consensus CDS
    CCDS30958.1
    UniProtKB/Swiss-Prot
    Q02985
    Related
    ENSP00000356395.4, ENST00000367425.8
    Conserved Domains (1) summary
    cl27761
    Location:107329
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    196774816..196795407
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001736937.1 RNA Sequence

    Related
    ENST00000471440.6
  2. XR_002958987.1 RNA Sequence

  3. XR_001736938.1 RNA Sequence

  4. XR_426757.2 RNA Sequence

  5. XR_241062.3 RNA Sequence

Support Center