Format

Send to:

Choose Destination

CFHR2 complement factor H related 2 [ Homo sapiens (human) ]

Gene ID: 3080, updated on 24-Nov-2020

Summary

Official Symbol
CFHR2provided by HGNC
Official Full Name
complement factor H related 2provided by HGNC
Primary source
HGNC:HGNC:4890
See related
Ensembl:ENSG00000080910 MIM:600889
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
FHR2; HFL3; CFHL2
Summary
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]
Expression
Restricted expression toward liver (RPKM 292.8) See more
Orthologs

Genomic context

See CFHR2 in Genome Data Viewer
Location:
1q31.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (196943738..196959622)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196912888..196928356)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement factor H-related protein 3-like Neighboring gene complement factor H related 4 Neighboring gene uncharacterized LOC105371675 Neighboring gene complement factor H related 5 Neighboring gene coagulation factor XIII B chain

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?

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
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cytolysis by host of symbiont cells IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
complement factor H-related protein 2
Names
DDESK59
FHR-2
H factor (complement)-like 3
factor H-related gene 2
h factor-like 3
h factor-like protein 2

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_042816.1 RefSeqGene

    Range
    4971..20855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1216

mRNA and Protein(s)

  1. NM_001312672.1NP_001299601.1  complement factor H-related protein 2 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two consecutive exons, but maintains the reading frame compared to variant 1. The resulting shorter isoform (2) is missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    BC022283, BG563114, X64877
    UniProtKB/Swiss-Prot
    P36980
    Related
    ENSP00000497089.1, ENST00000473386.1
    Conserved Domains (1) summary
    cd00033
    Location:2579
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  2. NM_005666.4NP_005657.1  complement factor H-related protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_005657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL139418, BC022283
    Consensus CDS
    CCDS30959.1
    UniProtKB/Swiss-Prot
    P36980
    Related
    ENSP00000356385.4, ENST00000367415.8
    Conserved Domains (1) summary
    cl27761
    Location:72265
    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 109.20201120

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
    196943738..196959622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509460.2XP_011507762.1  complement factor H-related protein 2 isoform X5

    Conserved Domains (1) summary
    cd00033
    Location:80134
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  2. XM_011509459.2XP_011507761.1  complement factor H-related protein 2 isoform X2

    Conserved Domains (1) summary
    cd00033
    Location:129183
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  3. XM_005245113.3XP_005245170.1  complement factor H-related protein 2 isoform X4

    Related
    ENSP00000496889.1, ENST00000496448.6
    Conserved Domains (1) summary
    cd00033
    Location:84138
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  4. XM_011509458.2XP_011507760.1  complement factor H-related protein 2 isoform X1

    Conserved Domains (1) summary
    cd00033
    Location:145199
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
  5. XM_017001109.1XP_016856598.1  complement factor H-related protein 2 isoform X3

    Related
    ENSP00000497428.1, ENST00000649960.1
Support Center