CFHR2 (complement factor H related 2) - Rat Genome Database

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Gene: CFHR2 (complement factor H related 2) Homo sapiens
Analyze
Symbol: CFHR2
Name: complement factor H related 2
RGD ID: 1606035
HGNC Page HGNC:4890
Description: Enables identical protein binding activity. Involved in cytolysis by host of symbiont cells. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CFHL2; complement factor H-related 2; complement factor H-related protein 2; DDESK59; factor H-related gene 2; FHR-2; FHR2; H factor (complement)-like 3; h factor-like 3; h factor-like protein 2; HFL3
RGD Orthologs
Bonobo
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381196,943,738 - 196,959,622 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1196,943,738 - 196,959,622 (+)EnsemblGRCh38hg38GRCh38
GRCh371196,912,868 - 196,928,752 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,179,557 - 195,194,979 (+)NCBINCBI36Build 36hg18NCBI36
Celera1170,027,001 - 170,053,828 (+)NCBICelera
Cytogenetic Map1q31.3NCBI
HuRef1168,070,234 - 168,085,657 (+)NCBIHuRef
CHM1_11198,335,178 - 198,350,600 (+)NCBICHM1_1
T2T-CHM13v2.01196,205,558 - 196,221,447 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1533657   PMID:1711047   PMID:7672821   PMID:8172644   PMID:10380701   PMID:12477932   PMID:15489334   PMID:16710414   PMID:17438673   PMID:18541031   PMID:20059470   PMID:20237496  
PMID:21832049   PMID:21873635   PMID:23487775   PMID:23728178   PMID:24260121   PMID:24333077   PMID:24334459   PMID:25979655   PMID:27196323   PMID:27306586   PMID:28514442   PMID:31273197  
PMID:33961781   PMID:34260947  


Genomics

Comparative Map Data
CFHR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381196,943,738 - 196,959,622 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1196,943,738 - 196,959,622 (+)EnsemblGRCh38hg38GRCh38
GRCh371196,912,868 - 196,928,752 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,179,557 - 195,194,979 (+)NCBINCBI36Build 36hg18NCBI36
Celera1170,027,001 - 170,053,828 (+)NCBICelera
Cytogenetic Map1q31.3NCBI
HuRef1168,070,234 - 168,085,657 (+)NCBIHuRef
CHM1_11198,335,178 - 198,350,600 (+)NCBICHM1_1
T2T-CHM13v2.01196,205,558 - 196,221,447 (+)NCBIT2T-CHM13v2.0
LOC117976634
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2152,449,293 - 52,459,877 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1152,398,117 - 52,439,784 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01172,481,728 - 172,522,715 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CFHR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12532,456,728 - 32,472,339 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2532,455,875 - 32,471,887 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605533,365,023 - 33,380,147 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in CFHR2
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1		 pathogenic
NM_005666.2(CFHR2):c.692C>T (p.Ser231Leu) single nucleotide variant Malignant melanoma [RCV000060031] Chr1:196958959 [GRCh38]
Chr1:196928089 [GRCh37]
Chr1:195194712 [NCBI36]
Chr1:1q31.3		 not provided
NM_005666.2(CFHR2):c.731G>A (p.Gly244Glu) single nucleotide variant Malignant melanoma [RCV000060032] Chr1:196958998 [GRCh38]
Chr1:196928128 [GRCh37]
Chr1:195194751 [NCBI36]
Chr1:1q31.3		 not provided
GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1 copy number loss See cases [RCV000135590] Chr1:189034483..199615866 [GRCh38]
Chr1:189003614..199584994 [GRCh37]
Chr1:187270237..197851617 [NCBI36]
Chr1:1q31.1-32.1		 pathogenic
GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1 copy number loss See cases [RCV000135432] Chr1:195514309..197896494 [GRCh38]
Chr1:195483439..197865624 [GRCh37]
Chr1:193750062..196132247 [NCBI36]
Chr1:1q31.3		 pathogenic
GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1 copy number loss Breast ductal adenocarcinoma [RCV000207061] Chr1:196608263..197002575 [GRCh38]
Chr1:196577392..196971704 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.430+20C>T single nucleotide variant not provided [RCV001673195]|not specified [RCV001553572] Chr1:196951048 [GRCh38]
Chr1:196920178 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_005666.4(CFHR2):c.392A>G (p.Glu131Gly) single nucleotide variant not specified [RCV004285809] Chr1:196950990 [GRCh38]
Chr1:196920120 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.366C>G (p.Asn122Lys) single nucleotide variant not specified [RCV004299249] Chr1:196950964 [GRCh38]
Chr1:196920094 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh37/hg19 1q31.3(chr1:195089818-197443021)x1 copy number loss not provided [RCV000684683] Chr1:195089818..197443021 [GRCh37]
Chr1:1q31.3		 likely pathogenic
NM_005666.4(CFHR2):c.253+13C>T single nucleotide variant not provided [RCV001730225] Chr1:196949662 [GRCh38]
Chr1:196918792 [GRCh37]
Chr1:1q31.3		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q31.3(chr1:196620593-196927185)x3 copy number gain not provided [RCV000736808] Chr1:196620593..196927185 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196620593-196933245)x3 copy number gain not provided [RCV000736809] Chr1:196620593..196933245 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196620593-197009798)x3 copy number gain not provided [RCV000736810] Chr1:196620593..197009798 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196620593-197165014)x3 copy number gain not provided [RCV000736811] Chr1:196620593..197165014 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196621221-196933245)x3 copy number gain not provided [RCV000736813] Chr1:196621221..196933245 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196621221-196937536)x3 copy number gain not provided [RCV000736814] Chr1:196621221..196937536 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196713725-197141320)x3 copy number gain not provided [RCV000736815] Chr1:196713725..197141320 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196713725-197168178)x3 copy number gain not provided [RCV000736816] Chr1:196713725..197168178 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q31.3(chr1:196621221-197009798)x3 copy number gain not provided [RCV000749299] Chr1:196621221..197009798 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196621221-197141320)x3 copy number gain not provided [RCV000749300] Chr1:196621221..197141320 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196622041-197012194)x3 copy number gain not provided [RCV000749301] Chr1:196622041..197012194 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196711067-196933238)x3 copy number gain not provided [RCV000749305] Chr1:196711067..196933238 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196711067-197009798)x3 copy number gain not provided [RCV000749306] Chr1:196711067..197009798 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196712596-196927185)x3 copy number gain not provided [RCV000749307] Chr1:196712596..196927185 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196712596-196933245)x3 copy number gain not provided [RCV000749308] Chr1:196712596..196933245 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196712596-196973872)x3 copy number gain not provided [RCV000749309] Chr1:196712596..196973872 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196712596-197009798)x3 copy number gain not provided [RCV000749310] Chr1:196712596..197009798 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196712659-196973872)x3 copy number gain not provided [RCV000749311] Chr1:196712659..196973872 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196713725-196929310)x3 copy number gain not provided [RCV000749312] Chr1:196713725..196929310 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196713725-196933238)x3 copy number gain not provided [RCV000749313] Chr1:196713725..196933238 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196713725-197009798)x3 copy number gain not provided [RCV000749314] Chr1:196713725..197009798 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.614-220G>A single nucleotide variant not provided [RCV001692798] Chr1:196958661 [GRCh38]
Chr1:196958661..196958662 [GRCh38]
Chr1:196927791 [GRCh37]
Chr1:196927791..196927792 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.420C>T (p.Cys140=) single nucleotide variant not provided [RCV001610184] Chr1:196951018 [GRCh38]
Chr1:196951018..196951019 [GRCh38]
Chr1:196920148 [GRCh37]
Chr1:196920148..196920149 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.430+141T>A single nucleotide variant not provided [RCV001709362] Chr1:196951169 [GRCh38]
Chr1:196920299 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.614-223A>G single nucleotide variant not provided [RCV001680320] Chr1:196958658 [GRCh38]
Chr1:196927788 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.58+129C>G single nucleotide variant not provided [RCV001680634] Chr1:196944067 [GRCh38]
Chr1:196913197 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.431-48C>A single nucleotide variant not provided [RCV001647971] Chr1:196957843 [GRCh38]
Chr1:196926973 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.760C>T (p.Arg254Ter) single nucleotide variant not provided [RCV000904490]|not specified [RCV003330992] Chr1:196959027 [GRCh38]
Chr1:196928157 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_005666.4(CFHR2):c.195C>A (p.Ser65=) single nucleotide variant not provided [RCV000901356] Chr1:196949591 [GRCh38]
Chr1:196918721 [GRCh37]
Chr1:1q31.3		 likely benign
NM_005666.4(CFHR2):c.656_657del (p.Ile219fs) deletion not provided [RCV000904175] Chr1:196958922..196958923 [GRCh38]
Chr1:196928052..196928053 [GRCh37]
Chr1:1q31.3		 benign|conflicting interpretations of pathogenicity
NM_005666.4(CFHR2):c.395G>A (p.Arg132Gln) single nucleotide variant not provided [RCV000972665] Chr1:196950993 [GRCh38]
Chr1:196920123 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.325A>G (p.Thr109Ala) single nucleotide variant Kidney disorder [RCV002294395]|not provided [RCV000879515] Chr1:196950923 [GRCh38]
Chr1:196920053 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_005666.4(CFHR2):c.328G>A (p.Val110Ile) single nucleotide variant not specified [RCV004282036] Chr1:196950926 [GRCh38]
Chr1:196920056 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.430+1G>A single nucleotide variant High myopia [RCV000785700] Chr1:196951029 [GRCh38]
Chr1:196920159 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1 copy number loss not provided [RCV000847068] Chr1:196315481..200200856 [GRCh37]
Chr1:1q31.3-32.1		 uncertain significance
GRCh37/hg19 1q31.3(chr1:196397668-196946808)x3 copy number gain not provided [RCV001005166] Chr1:196397668..196946808 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_005666.4(CFHR2):c.431-65C>T single nucleotide variant not provided [RCV001715470] Chr1:196957826 [GRCh38]
Chr1:196926956 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.595G>T (p.Glu199Ter) single nucleotide variant Non-immunoglobulin-mediated membranoproliferative glomerulonephritis [RCV003994177]|not provided [RCV000952816] Chr1:196958055 [GRCh38]
Chr1:196927185 [GRCh37]
Chr1:1q31.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005666.4(CFHR2):c.430+7G>A single nucleotide variant not provided [RCV000972666] Chr1:196951035 [GRCh38]
Chr1:196920165 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.334_337del (p.Ile112fs) deletion not provided [RCV000907313] Chr1:196950931..196950934 [GRCh38]
Chr1:196920061..196920064 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.431-222C>T single nucleotide variant not provided [RCV001674396] Chr1:196957669 [GRCh38]
Chr1:196926799 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.-65C>G single nucleotide variant not provided [RCV001707299] Chr1:196943816 [GRCh38]
Chr1:196912946 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.614-240T>A single nucleotide variant not provided [RCV001650335] Chr1:196958641 [GRCh38]
Chr1:196927771 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.613+225T>G single nucleotide variant not provided [RCV001611805] Chr1:196958298 [GRCh38]
Chr1:196927428 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_196918585)_(197742062_?)del deletion Retinitis pigmentosa 12 [RCV001390231] Chr1:196918585..197742062 [GRCh37]
Chr1:1q31.3		 pathogenic
NC_000001.10:g.(?_196621248)_(197447009_?)dup duplication not provided [RCV001987816] Chr1:196621248..197447009 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NM_005666.4(CFHR2):c.213G>A (p.Thr71=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294698] Chr1:196949609 [GRCh38]
Chr1:196918739 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.212C>T (p.Thr71Met) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294720]|not provided [RCV003418442] Chr1:196949608 [GRCh38]
Chr1:196918738 [GRCh37]
Chr1:1q31.3		 likely benign
NM_005666.4(CFHR2):c.215G>A (p.Cys72Tyr) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294697] Chr1:196949611 [GRCh38]
Chr1:196949611..196949612 [GRCh38]
Chr1:196918741 [GRCh37]
Chr1:196918741..196918742 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.791A>G (p.Tyr264Cys) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294701] Chr1:196959058 [GRCh38]
Chr1:196959058..196959059 [GRCh38]
Chr1:196928188 [GRCh37]
Chr1:196928188..196928189 [GRCh37]
Chr1:1q31.3		 likely benign
GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1 copy number loss not provided [RCV002474543] Chr1:193011753..199882947 [GRCh37]
Chr1:1q31.2-32.1		 pathogenic
GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1 copy number loss not provided [RCV002472500] Chr1:189633885..199854163 [GRCh37]
Chr1:1q31.1-32.1		 likely pathogenic
NM_005666.4(CFHR2):c.217G>A (p.Ala73Thr) single nucleotide variant not provided [RCV003481432]|not specified [RCV004214331] Chr1:196949613 [GRCh38]
Chr1:196918743 [GRCh37]
Chr1:1q31.3		 likely benign|uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
GRCh37/hg19 1q31.3(chr1:196670448-197898389)x1 copy number loss not provided [RCV002511626] Chr1:196670448..197898389 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.627A>G (p.Ile209Met) single nucleotide variant not specified [RCV004124926] Chr1:196958894 [GRCh38]
Chr1:196928024 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.596A>T (p.Glu199Val) single nucleotide variant not specified [RCV004226644] Chr1:196958056 [GRCh38]
Chr1:196927186 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.66C>G (p.Phe22Leu) single nucleotide variant not specified [RCV004148210] Chr1:196949462 [GRCh38]
Chr1:196918592 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.557G>A (p.Gly186Asp) single nucleotide variant not specified [RCV004136409] Chr1:196958017 [GRCh38]
Chr1:196927147 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.446G>T (p.Cys149Phe) single nucleotide variant not specified [RCV004186580] Chr1:196957906 [GRCh38]
Chr1:196927036 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.344A>T (p.Asn115Ile) single nucleotide variant not specified [RCV004296974] Chr1:196950942 [GRCh38]
Chr1:196920072 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.206G>T (p.Arg69Leu) single nucleotide variant not specified [RCV003332046] Chr1:196949602 [GRCh38]
Chr1:196918732 [GRCh37]
Chr1:1q31.3		 likely benign
NM_005666.4(CFHR2):c.114A>G (p.Lys38=) single nucleotide variant not specified [RCV003332045] Chr1:196949510 [GRCh38]
Chr1:196918640 [GRCh37]
Chr1:1q31.3		 benign
NM_005666.4(CFHR2):c.31T>C (p.Ser11Pro) single nucleotide variant not provided [RCV003481572] Chr1:196943911 [GRCh38]
Chr1:196913041 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.59-12T>C single nucleotide variant not specified [RCV003405140] Chr1:196949443 [GRCh38]
Chr1:196918573 [GRCh37]
Chr1:1q31.3		 likely benign
NM_005666.4(CFHR2):c.19del (p.Ser6_Val7insTer) deletion not provided [RCV003481571] Chr1:196943899 [GRCh38]
Chr1:196913029 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.208A>G (p.Ile70Val) single nucleotide variant not provided [RCV003481573] Chr1:196949604 [GRCh38]
Chr1:196918734 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu) single nucleotide variant not provided [RCV003491385]|not specified [RCV003404957] Chr1:196949475 [GRCh38]
Chr1:196918605 [GRCh37]
Chr1:1q31.3		 likely benign|uncertain significance
NM_005666.4(CFHR2):c.254-6C>G single nucleotide variant not specified [RCV004587977] Chr1:196950846 [GRCh38]
Chr1:196919976 [GRCh37]
Chr1:1q31.3		 likely benign
NM_005666.4(CFHR2):c.761G>A (p.Arg254Gln) single nucleotide variant not specified [RCV004436608] Chr1:196959028 [GRCh38]
Chr1:196928158 [GRCh37]
Chr1:1q31.3		 likely benign
NM_005666.4(CFHR2):c.496T>C (p.Ser166Pro) single nucleotide variant not specified [RCV004436607] Chr1:196957956 [GRCh38]
Chr1:196927086 [GRCh37]
Chr1:1q31.3		 likely benign
NM_005666.4(CFHR2):c.787G>A (p.Val263Ile) single nucleotide variant not specified [RCV004436609] Chr1:196959054 [GRCh38]
Chr1:196928184 [GRCh37]
Chr1:1q31.3		 likely benign
NC_000001.10:g.(?_190829412)_(216061974_?)del deletion not provided [RCV004579260] Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:398
Count of miRNA genes:261
Interacting mature miRNAs:270
Transcripts:ENST00000367415, ENST00000367421, ENST00000473386, ENST00000476712, ENST00000485647, ENST00000489703, ENST00000496448
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406949985GWAS598961_Hcomplement factor H-related protein 2 measurement QTL GWAS598961 (human)2e-1466complement factor H-related protein 2 measurement1196951018196951019Human
407245797GWAS894773_Hcomplement factor H-related protein 5 measurement QTL GWAS894773 (human)0.000002complement factor H-related protein 5 measurement1196949611196949612Human
407245856GWAS894832_Hcomplement factor H measurement QTL GWAS894832 (human)0.000005complement factor H measurement1196949611196949612Human
407216573GWAS865549_Hcomplement factor H-related protein 2 measurement QTL GWAS865549 (human)5e-19complement factor H-related protein 2 measurement1196949611196949612Human
407216572GWAS865548_Hcomplement factor H-related protein 2 measurement QTL GWAS865548 (human)2e-29complement factor H-related protein 2 measurement1196951169196951170Human
407247644GWAS896620_Hcomplement factor H-related protein 2 measurement QTL GWAS896620 (human)3e-32complement factor H-related protein 2 measurement1196951169196951170Human
407216574GWAS865550_Hcomplement factor H-related protein 2 measurement QTL GWAS865550 (human)2e-10complement factor H-related protein 2 measurement1196959058196959059Human
406972111GWAS621087_Hinterleukin-22 measurement QTL GWAS621087 (human)5e-17interleukin-22 measurement1196958661196958662Human
407265945GWAS914921_Hserum metabolite measurement QTL GWAS914921 (human)0.0000005serum metabolite measurement1196957173196957174Human

Markers in Region
RH79164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,928,061 - 196,928,195UniSTSGRCh37
Build 361195,194,684 - 195,194,818RGDNCBI36
Celera1170,053,533 - 170,053,667RGD
Cytogenetic Map1q31.3UniSTS
HuRef1168,085,362 - 168,085,496UniSTS
GeneMap99-GB4 RH Map1658.66UniSTS
SHGC-76083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,927,062 - 196,927,203UniSTSGRCh37
Build 361195,193,685 - 195,193,826RGDNCBI36
Celera1170,052,534 - 170,052,675RGD
Cytogenetic Map1q31.3UniSTS
HuRef1168,084,363 - 168,084,504UniSTS
GeneMap99-GB4 RH Map1658.66UniSTS
NCBI RH Map11614.9UniSTS
HFL3_2992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371196,927,914 - 196,928,526UniSTSGRCh37
Build 361195,194,537 - 195,195,149RGDNCBI36
Celera1170,053,386 - 170,053,998RGD
HuRef1168,085,215 - 168,085,827UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
208 429 360 427 634 734 817 475 429 441 267 1687 1287 485 125 487 323 34

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001312672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC245455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC275493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX772812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG563114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG566607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC920157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X64877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X86564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X86565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X86566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X86567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000367415   ⟹   ENSP00000356385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,943,738 - 196,959,622 (+)Ensembl
Ensembl Acc Id: ENST00000367421   ⟹   ENSP00000356391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,943,756 - 196,959,212 (+)Ensembl
Ensembl Acc Id: ENST00000473386   ⟹   ENSP00000497089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,943,858 - 196,959,215 (+)Ensembl
Ensembl Acc Id: ENST00000476712   ⟹   ENSP00000476677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,943,772 - 196,959,226 (+)Ensembl
Ensembl Acc Id: ENST00000485647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,943,784 - 196,949,873 (+)Ensembl
Ensembl Acc Id: ENST00000489703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,943,772 - 196,959,215 (+)Ensembl
Ensembl Acc Id: ENST00000496448   ⟹   ENSP00000496889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,943,837 - 196,959,219 (+)Ensembl
Ensembl Acc Id: ENST00000647617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,943,776 - 196,945,675 (+)Ensembl
Ensembl Acc Id: ENST00000649283   ⟹   ENSP00000496999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,943,772 - 196,959,216 (+)Ensembl
Ensembl Acc Id: ENST00000649960   ⟹   ENSP00000497428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,943,881 - 196,959,106 (+)Ensembl
Ensembl Acc Id: ENST00000699921   ⟹   ENSP00000514705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,947,496 - 196,951,024 (+)Ensembl
Ensembl Acc Id: ENST00000699922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1196,950,191 - 196,959,215 (+)Ensembl
RefSeq Acc Id: NM_001312672   ⟹   NP_001299601
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,943,768 - 196,959,226 (+)NCBI
CHM1_11198,335,142 - 198,350,600 (+)NCBI
T2T-CHM13v2.01196,205,588 - 196,221,051 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001410924   ⟹   NP_001397853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,943,799 - 196,959,220 (+)NCBI
T2T-CHM13v2.01196,205,619 - 196,221,045 (+)NCBI
RefSeq Acc Id: NM_005666   ⟹   NP_005657
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,943,738 - 196,959,622 (+)NCBI
GRCh371196,912,888 - 196,928,356 (+)NCBI
Build 361195,179,557 - 195,194,979 (+)NCBI Archive
Celera1170,027,001 - 170,053,828 (+)RGD
HuRef1168,070,234 - 168,085,657 (+)ENTREZGENE
CHM1_11198,335,142 - 198,350,600 (+)NCBI
T2T-CHM13v2.01196,205,558 - 196,221,447 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509458   ⟹   XP_011507760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,943,738 - 196,959,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509459   ⟹   XP_011507761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,943,738 - 196,959,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509460   ⟹   XP_011507762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,943,738 - 196,959,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001109   ⟹   XP_016856598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,943,738 - 196,959,622 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054336210   ⟹   XP_054192185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,205,558 - 196,221,447 (+)NCBI
RefSeq Acc Id: XM_054336211   ⟹   XP_054192186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,205,558 - 196,221,447 (+)NCBI
RefSeq Acc Id: XM_054336212   ⟹   XP_054192187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,205,558 - 196,221,447 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001299601 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397853 (Get FASTA)   NCBI Sequence Viewer  
  NP_005657 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507760 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507761 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507762 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856598 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188722 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188723 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188724 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188725 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192185 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192186 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192187 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH22283 (Get FASTA)   NCBI Sequence Viewer  
  CAA46096 (Get FASTA)   NCBI Sequence Viewer  
  CAA60375 (Get FASTA)   NCBI Sequence Viewer  
  CAE06255 (Get FASTA)   NCBI Sequence Viewer  
  CBN73474 (Get FASTA)   NCBI Sequence Viewer  
  EAW91267 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000356385
  ENSP00000356385.4
  ENSP00000356391.4
  ENSP00000476677.1
  ENSP00000496889
  ENSP00000496889.1
  ENSP00000496999.1
  ENSP00000497089
  ENSP00000497089.1
  ENSP00000497428
  ENSP00000497428.2
  ENSP00000514689
  ENSP00000514689.1
  ENSP00000514705.1
  ENSP00000517754.1
  ENSP00000517755.1
  ENSP00000517756.1
  ENSP00000517757.1
  ENSP00000517758.1
  ENSP00000517759.1
  ENSP00000517760.1
  ENSP00000517761.1
  ENSP00000517762.1
GenBank Protein P36980 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005657   ⟸   NM_005666
- Peptide Label: isoform 1 precursor
- UniProtKB: Q14310 (UniProtKB/Swiss-Prot),   Q5T9T1 (UniProtKB/Swiss-Prot),   P36980 (UniProtKB/Swiss-Prot),   V9GYE7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507761   ⟸   XM_011509459
- Peptide Label: isoform X2
- UniProtKB: A0A8V8TQS1 (UniProtKB/TrEMBL),   V9GYE7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507762   ⟸   XM_011509460
- Peptide Label: isoform X4
- UniProtKB: A0A3B3IS00 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507760   ⟸   XM_011509458
- Peptide Label: isoform X1
- UniProtKB: V9GYE7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001299601   ⟸   NM_001312672
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A3B3IS28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856598   ⟸   XM_017001109
- Peptide Label: isoform X3
- UniProtKB: A0A3B3ISW6 (UniProtKB/TrEMBL),   V9GYE7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000496999   ⟸   ENST00000649283
Ensembl Acc Id: ENSP00000497428   ⟸   ENST00000649960
Ensembl Acc Id: ENSP00000496889   ⟸   ENST00000496448
Ensembl Acc Id: ENSP00000356391   ⟸   ENST00000367421
Ensembl Acc Id: ENSP00000356385   ⟸   ENST00000367415
Ensembl Acc Id: ENSP00000497089   ⟸   ENST00000473386
Ensembl Acc Id: ENSP00000476677   ⟸   ENST00000476712
Ensembl Acc Id: ENSP00000514705   ⟸   ENST00000699921
RefSeq Acc Id: NP_001397853   ⟸   NM_001410924
- Peptide Label: isoform 3 precursor
- UniProtKB: A0A3B3IRW0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192186   ⟸   XM_054336211
- Peptide Label: isoform X2
- UniProtKB: A0A8V8TQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054192185   ⟸   XM_054336210
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054192187   ⟸   XM_054336212
- Peptide Label: isoform X4
Protein Domains
Sushi

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P36980-F1-model_v2 AlphaFold P36980 1-270 view protein structure

Promoters
RGD ID:6858466
Promoter ID:EPDNEW_H2398
Type:initiation region
Name:CFHR2_1
Description:complement factor H related 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381196,943,799 - 196,943,859EPDNEW
RGD ID:6852450
Promoter ID:EP73990
Type:initiation region
Name:HS_HFL3
Description:H factor (complement)-like 3.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:No map positions available.

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4890 AgrOrtholog
COSMIC CFHR2 COSMIC
Ensembl Genes ENSG00000080910 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000292003 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000367415 ENTREZGENE
  ENST00000367415.8 UniProtKB/Swiss-Prot
  ENST00000367421.5 UniProtKB/TrEMBL
  ENST00000473386 ENTREZGENE
  ENST00000473386.1 UniProtKB/TrEMBL
  ENST00000476712.6 UniProtKB/TrEMBL
  ENST00000489703 ENTREZGENE
  ENST00000489703.2 UniProtKB/TrEMBL
  ENST00000496448 ENTREZGENE
  ENST00000496448.6 UniProtKB/TrEMBL
  ENST00000649283.1 UniProtKB/TrEMBL
  ENST00000649960 ENTREZGENE
  ENST00000649960.2 UniProtKB/TrEMBL
  ENST00000699921.1 UniProtKB/TrEMBL
  ENST00000709546.1 UniProtKB/Swiss-Prot
  ENST00000709547.1 UniProtKB/TrEMBL
  ENST00000709548.1 UniProtKB/TrEMBL
  ENST00000709549.1 UniProtKB/TrEMBL
  ENST00000709550.1 UniProtKB/TrEMBL
  ENST00000709553.1 UniProtKB/TrEMBL
  ENST00000709554.1 UniProtKB/TrEMBL
  ENST00000709555.1 UniProtKB/TrEMBL
  ENST00000709556.1 UniProtKB/TrEMBL
Gene3D-CATH Complement Module, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000080910 GTEx
  ENSG00000292003 GTEx
HGNC ID HGNC:4890 ENTREZGENE
Human Proteome Map CFHR2 Human Proteome Map
InterPro ComplSys_Reg/VirEntry_Med UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi/SCR/CCP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sushi_SCR_CCP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3080 UniProtKB/Swiss-Prot
NCBI Gene 3080 ENTREZGENE
OMIM 600889 OMIM
PANTHER COMPLEMENT FACTOR H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COMPLEMENT FACTOR H-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COMPLEMENT FACTOR H-RELATED PROTEIN 1-RELATED UniProtKB/TrEMBL
Pfam Sushi UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29267 PharmGKB
PRINTS F138DOMAIN UniProtKB/TrEMBL
PROSITE SUSHI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IQ51_HUMAN UniProtKB/TrEMBL
  A0A3B3IRW0 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IS00 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IS28 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ISW6 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TPL2_HUMAN UniProtKB/TrEMBL
  A0A8V8TQS1 ENTREZGENE, UniProtKB/TrEMBL
  FHR2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14310 ENTREZGENE
  Q5T9T1 ENTREZGENE
  V9GYE7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q14310 UniProtKB/Swiss-Prot
  Q5T9T1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 CFHR2  complement factor H related 2    complement factor H-related 2  Symbol and/or name change 5135510 APPROVED