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Gene: CFHR2 (complement factor H related 2) Homo sapiens

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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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	196,943,738 - 196,959,622 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	196,943,738 - 196,959,622 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	196,912,868 - 196,928,752 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	195,179,557 - 195,194,979 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	170,027,001 - 170,053,828 (+)	NCBI		Celera
Cytogenetic Map	1	q31.3	NCBI
HuRef	1	168,070,234 - 168,085,657 (+)	NCBI		HuRef
CHM1_1	1	198,335,178 - 198,350,600 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	196,205,558 - 196,221,447 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFHR2	Human	atypical hemolytic-uremic syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	ClinVar	PMID:25741868
CFHR2	Human	gastrointestinal stromal tumor		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
CFHR2	Human	High Myopia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: High myopia	ClinVar
CFHR2	Human	kidney disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: renal disease	ClinVar	PMID:25741868 and PMID:28492532
CFHR2	Human	membranoproliferative glomerulonephritis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis	ClinVar	PMID:25741868 more ...
CFHR2	Human	parathyroid carcinoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532
CFHR2	Human	retinitis pigmentosa 12		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Retinitis pigmentosa 12	ClinVar	PMID:10508521 more ...

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFHR2	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	EXP		6480464	Tetrachlorodibenzodioxin results in decreased expression of CFHR2 mRNA	CTD	PMID:20106945
CFHR2	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	EXP		6480464	[Endosulfan co-treated with Tetrachlorodibenzodioxin] results in decreased expression of CFHR2 mRNA	CTD	PMID:26159488
CFHR2	Human	aflatoxin B1	affects expression	EXP		6480464	Aflatoxin B1 affects the expression of CFHR2 protein	CTD	PMID:20106945
CFHR2	Human	aflatoxin B1	decreases expression	EXP		6480464	Aflatoxin B1 results in decreased expression of CFHR2 mRNA	CTD	PMID:22100608 and PMID:27153756
CFHR2	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of CFHR2 gene	CTD	PMID:27153756
CFHR2	Human	antirheumatic drug	decreases expression	EXP		6480464	Antirheumatic Agents results in decreased expression of CFHR2 mRNA	CTD	PMID:24449571
CFHR2	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of CFHR2 promoter	CTD	PMID:27901495
CFHR2	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of CFHR2 mRNA	CTD	PMID:32234424
CFHR2	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to CFHR2 gene]	CTD	PMID:28238834
CFHR2	Human	chromium(6+)	increases expression	EXP		6480464	chromium hexavalent ion results in increased expression of CFHR2 protein	CTD	PMID:28596144
CFHR2	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of CFHR2 mRNA	CTD	PMID:20106945 and PMID:27989131
CFHR2	Human	endosulfan	multiple interactions	EXP		6480464	[Endosulfan co-treated with Tetrachlorodibenzodioxin] results in decreased expression of CFHR2 mRNA	CTD	PMID:26159488
CFHR2	Human	O-methyleugenol	decreases expression	EXP		6480464	methyleugenol results in decreased expression of CFHR2 mRNA	CTD	PMID:32234424
CFHR2	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of CFHR2 mRNA	CTD	PMID:29067470
CFHR2	Human	perfluorononanoic acid	decreases expression	EXP		6480464	perfluoro-n-nonanoic acid results in decreased expression of CFHR2 mRNA	CTD	PMID:32588087
CFHR2	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of CFHR2 mRNA	CTD	PMID:29301061
CFHR2	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of CFHR2 mRNA	CTD	PMID:29154799
CFHR2	Human	zinc atom	decreases expression	EXP		6480464	Zinc deficiency results in decreased expression of CFHR2 mRNA	CTD	PMID:18356318
CFHR2	Human	zinc(0)	decreases expression	EXP		6480464	Zinc deficiency results in decreased expression of CFHR2 mRNA	CTD	PMID:18356318

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFHR2	Human	complement activation	involved_in	IBA	MGI:88385 more ...	150520179		GO_Central	GO_REF:0000033
CFHR2	Human	cytolysis by host of symbiont cells	involved_in	IMP		150520179	PMID:23487775	UniProt	PMID:23487775

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFHR2	Human	extracellular region	located_in	IEA	UniProtKB-SubCell:SL-0243	150520179		UniProt	GO_REF:0000044
CFHR2	Human	extracellular region	located_in	TAS		150520179		Reactome	Reactome:R-HSA-8851436
CFHR2	Human	extracellular region	located_in	IEA	UniProtKB-KW:KW-0964	150520179		UniProt	GO_REF:0000043
CFHR2	Human	extracellular space	is_active_in	IBA	MGI:3611575 more ...	150520179		GO_Central	GO_REF:0000033
CFHR2	Human	protein-containing complex	part_of	IDA		150520179	PMID:23487775	UniProt	PMID:23487775

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFHR2	Human	complement component C3b binding	enables	IBA	MGI:3611575 more ...	150520179		GO_Central	GO_REF:0000033
CFHR2	Human	identical protein binding	enables	IPI	UniProtKB:P36980	150520179	PMID:23487775 more ...	IntAct	PMID:23487775 more ...
CFHR2	Human	protein binding	enables	IPI	UniProtKB:Q03591	150520179	PMID:23487775 more ...	IntAct	PMID:23487775 more ...
CFHR2	Human	protein binding	enables	IPI	UniProtKB:P01024-PRO_0000005913 and UniProtKB:P01024-PRO_0000005915	150520179	PMID:24260121	IntAct	PMID:24260121

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CFHR2	Human	Gastrointestinal stroma tumor		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
CFHR2	Human	High myopia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Severe Myopia	ClinVar
CFHR2	Human	Nephropathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Kidney disease	ClinVar	PMID:25741868 and PMID:28492532
CFHR2	Human	Parathyroid carcinoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532

#	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

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

CFHR2
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	196,943,738 - 196,959,622 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	196,943,738 - 196,959,622 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	196,912,868 - 196,928,752 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	195,179,557 - 195,194,979 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	1	170,027,001 - 170,053,828 (+)	NCBI		Celera
Cytogenetic Map	1	q31.3	NCBI
HuRef	1	168,070,234 - 168,085,657 (+)	NCBI		HuRef
CHM1_1	1	198,335,178 - 198,350,600 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	196,205,558 - 196,221,447 (+)	NCBI		T2T-CHM13v2.0

LOC117976634
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	52,449,293 - 52,459,877 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	52,398,117 - 52,439,784 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	172,481,728 - 172,522,715 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

CFHR2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	25	32,456,728 - 32,472,339 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	25	32,455,875 - 32,471,887 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666055	33,365,023 - 33,380,147 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants in CFHR2
57 total 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 provided [RCV004790540]\|not specified [RCV003332046]	Chr1:196949602 [GRCh38] Chr1:196918732 [GRCh37] Chr1:1q31.3	likely benign\|uncertain significance
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 provided [RCV004790665]\|not specified [RCV004436608]	Chr1:196959028 [GRCh38] Chr1:196928158 [GRCh37] Chr1:1q31.3	likely benign\|uncertain significance
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
NM_005666.4(CFHR2):c.-5C>G	single nucleotide variant	not provided [RCV004794212]	Chr1:196943876 [GRCh38] Chr1:196913006 [GRCh37] Chr1:1q31.3	uncertain significance
NM_005666.4(CFHR2):c.35G>A (p.Arg12Gln)	single nucleotide variant	not provided [RCV004794214]	Chr1:196943915 [GRCh38] Chr1:196913045 [GRCh37] Chr1:1q31.3	uncertain significance
NM_005666.4(CFHR2):c.457C>T (p.Pro153Ser)	single nucleotide variant	not provided [RCV004794223]	Chr1:196957917 [GRCh38] Chr1:196927047 [GRCh37] Chr1:1q31.3	uncertain significance
NM_005666.4(CFHR2):c.586C>A (p.Gln196Lys)	single nucleotide variant	not provided [RCV004794228]	Chr1:196958046 [GRCh38] Chr1:196927176 [GRCh37] Chr1:1q31.3	uncertain significance
NM_005666.4(CFHR2):c.644A>G (p.Glu215Gly)	single nucleotide variant	not provided [RCV004794231]	Chr1:196958911 [GRCh38] Chr1:196928041 [GRCh37] Chr1:1q31.3	uncertain significance
NM_005666.4(CFHR2):c.540C>T (p.Asn180=)	single nucleotide variant	not specified [RCV005088450]	Chr1:196958000 [GRCh38] Chr1:196927130 [GRCh37] Chr1:1q31.3	likely benign
NM_005666.4(CFHR2):c.271T>C (p.Phe91Leu)	single nucleotide variant	not specified [RCV004904279]	Chr1:196950869 [GRCh38] Chr1:196919999 [GRCh37] Chr1:1q31.3	uncertain significance
NM_005666.4(CFHR2):c.155A>G (p.Tyr52Cys)	single nucleotide variant	not specified [RCV004904281]	Chr1:196949551 [GRCh38] Chr1:196918681 [GRCh37] Chr1:1q31.3	uncertain significance

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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597171562	GWAS1267636_H	complement factor H-related protein 2 measurement QTL GWAS1267636 (human)		2e-1466	complement factor H-related protein 2 measurement		1	196951018	196951019	Human
597248395	GWAS1344469_H	complement factor H-related protein 2 measurement QTL GWAS1344469 (human)		3e-32	complement factor H-related protein 2 measurement		1	196951169	196951170	Human
597262458	GWAS1358532_H	serum metabolite measurement QTL GWAS1358532 (human)		0.0000005	serum metabolite measurement		1	196957173	196957174	Human
597127428	GWAS1223502_H	complement factor H-related protein 2 measurement QTL GWAS1223502 (human)		2e-10	complement factor H-related protein 2 measurement		1	196959058	196959059	Human
597127427	GWAS1223501_H	complement factor H-related protein 2 measurement QTL GWAS1223501 (human)		5e-19	complement factor H-related protein 2 measurement		1	196949611	196949612	Human
597127426	GWAS1223500_H	complement factor H-related protein 2 measurement QTL GWAS1223500 (human)		2e-29	complement factor H-related protein 2 measurement		1	196951169	196951170	Human
597176463	GWAS1272537_H	interleukin-22 measurement QTL GWAS1272537 (human)		5e-17	blood interleukin amount (VT:0008588)		1	196958661	196958662	Human
597287073	GWAS1383147_H	hypertension QTL GWAS1383147 (human)		2e-08	hypertension		1	196948769	196948770	Human
597432612	GWAS1528686_H	protein measurement QTL GWAS1528686 (human)		4e-127	protein measurement		1	196951018	196951019	Human
597250256	GWAS1346330_H	complement factor H-related protein 5 measurement QTL GWAS1346330 (human)		0.000002	complement factor H-related protein 5 measurement		1	196949611	196949612	Human
596977498	GWAS1097017_H	hypertension QTL GWAS1097017 (human)		2e-08	hypertension		1	196948769	196948770	Human
597253430	GWAS1349504_H	complement factor H measurement QTL GWAS1349504 (human)		0.000005	complement protein amount (VT:0010033)		1	196949611	196949612	Human

RH79164

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	196,928,061 - 196,928,195	UniSTS	GRCh37
Build 36	1	195,194,684 - 195,194,818	RGD	NCBI36
Celera	1	170,053,533 - 170,053,667	RGD
Cytogenetic Map	1	q31.3	UniSTS
HuRef	1	168,085,362 - 168,085,496	UniSTS
GeneMap99-GB4 RH Map	1	658.66	UniSTS

SHGC-76083

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	196,927,062 - 196,927,203	UniSTS	GRCh37
Build 36	1	195,193,685 - 195,193,826	RGD	NCBI36
Celera	1	170,052,534 - 170,052,675	RGD
Cytogenetic Map	1	q31.3	UniSTS
HuRef	1	168,084,363 - 168,084,504	UniSTS
GeneMap99-GB4 RH Map	1	658.66	UniSTS
NCBI RH Map	1	1614.9	UniSTS

HFL3_2992

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	196,927,914 - 196,928,526	UniSTS	GRCh37
Build 36	1	195,194,537 - 195,195,149	RGD	NCBI36
Celera	1	170,053,386 - 170,053,998	RGD
HuRef	1	168,085,215 - 168,085,827	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

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


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 Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,943,738 - 196,959,622 (+)	Ensembl

Ensembl Acc Id:

ENST00000367421 ⟹ ENSP00000356391

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,943,756 - 196,959,212 (+)	Ensembl

Ensembl Acc Id:

ENST00000473386 ⟹ ENSP00000497089

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,943,858 - 196,959,215 (+)	Ensembl

Ensembl Acc Id:

ENST00000476712 ⟹ ENSP00000476677

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,943,772 - 196,959,226 (+)	Ensembl

Ensembl Acc Id:

ENST00000485647

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,943,784 - 196,949,873 (+)	Ensembl

Ensembl Acc Id:

ENST00000489703

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,943,772 - 196,959,215 (+)	Ensembl

Ensembl Acc Id:

ENST00000496448 ⟹ ENSP00000496889

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,943,837 - 196,959,219 (+)	Ensembl

Ensembl Acc Id:

ENST00000647617

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,943,776 - 196,945,675 (+)	Ensembl

Ensembl Acc Id:

ENST00000649283 ⟹ ENSP00000496999

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,943,772 - 196,959,216 (+)	Ensembl

Ensembl Acc Id:

ENST00000649960 ⟹ ENSP00000497428

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,943,881 - 196,959,106 (+)	Ensembl

Ensembl Acc Id:

ENST00000699921 ⟹ ENSP00000514705

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,947,496 - 196,951,024 (+)	Ensembl

Ensembl Acc Id:

ENST00000699922

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	196,950,191 - 196,959,215 (+)	Ensembl

RefSeq Acc Id:

NM_001312672 ⟹ NP_001299601

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	196,943,768 - 196,959,226 (+)	NCBI
CHM1_1	1	198,335,142 - 198,350,600 (+)	NCBI
T2T-CHM13v2.0	1	196,205,588 - 196,221,051 (+)	NCBI

Sequence:

show sequence

AGTTAGTACACTGAAATTCAAAGTCATGCTCATAACTGTTAATGAAAGCAGATTCAAAGCAACACCACCACCACTGAAGTATTTTTAGTTATATAAGATTGGAACTACCAAGCATGTGGCTCCTGGTC
AGTGTAATTCTAATCTCACGGATATCCTCTGTTGGGGGAGAAGTTTCTGCAGAAAAATGTGGGCCCCCTCCACCTATTGACAATGGAGACATTACTTCATTCCTGTTGTCAGTATATGCTCCAGGTTC
ATCAGTTGAGTACCAGTGCCAGAACTTGTATCAACTTGAGGGTAACAATCAAATAACATGTAGAAACGGACAATGGTCAGAACCACCAAAATGCTTAGATCCATGTGTAATATCACAAGAAATTATGG
AAAAATATAACATAAAATTAAAGTGGACAAACCAACAAAAGCTTTATTCAAGAACAGGTGACATAGTTGAATTTGTTTGTAAATCTGGATATCATCCAACAAAATCTCATTCATTTCGAGCAATGTGT
CAGAATGGGAAACTGGTATATCCCAGTTGTGAAGAAAAATAGAATCAATGGCATTACTATTAGTAAAATGCACACCTTTTTCTGAATTTACTATTATATTTGTTTTCAATTTCATTTTTCAAGTACTG
TTTTACTCATTTTTATTCATAAATAAAGTTTTGTGTTGATTTGTGAAAATGCAATTACAAAAAA

hide sequence

RefSeq Acc Id:

NM_001410924 ⟹ NP_001397853

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	196,943,799 - 196,959,220 (+)	NCBI
T2T-CHM13v2.0	1	196,205,619 - 196,221,045 (+)	NCBI

RefSeq Acc Id:

NM_005666 ⟹ NP_005657

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	196,943,738 - 196,959,622 (+)	NCBI
GRCh37	1	196,912,888 - 196,928,356 (+)	NCBI
Build 36	1	195,179,557 - 195,194,979 (+)	NCBI Archive
Celera	1	170,027,001 - 170,053,828 (+)	RGD
HuRef	1	168,070,234 - 168,085,657 (+)	ENTREZGENE
CHM1_1	1	198,335,142 - 198,350,600 (+)	NCBI
T2T-CHM13v2.0	1	196,205,558 - 196,221,447 (+)	NCBI

Sequence:

show sequence

ACCACAAAGGACTTTACTAAACTAGCTTCCAGTTAGTACACTGAAATTCAAAGTCATGCTCATA
ACTGTTAATGAAAGCAGATTCAAAGCAACACCACCACCACTGAAGTATTTTTAGTTATATAAGATTGGAACTACCAAGCATGTGGCTCCTGGTCAGTGTAATTCTAATCTCACGGATATCCTCTGTTG
GGGGAGAAGCAATGTTCTGTGATTTTCCAAAAATAAACCATGGAATTCTATATGATGAAGAAAAATATAAGCCATTTTCCCAAGTTCCTACAGGGGAAGTTTTCTATTACTCCTGTGAATATAATTTT
GTGTCTCCTTCAAAATCCTTTTGGACTCGCATAACGTGCGCAGAAGAAGGATGGTCACCAACACCAAAGTGTCTCAGACTGTGTTTCTTTCCTTTTGTGGAAAATGGTCATTCTGAATCTTCAGGACA
AACACATCTGGAAGGTGATACTGTACAAATTATTTGCAACACAGGATACAGACTTCAAAACAATGAGAACAACATTTCATGTGTAGAACGGGGCTGGTCCACTCCTCCCAAATGCAGGTCCACTATTT
CTGCAGAAAAATGTGGGCCCCCTCCACCTATTGACAATGGAGACATTACTTCATTCCTGTTGTCAGTATATGCTCCAGGTTCATCAGTTGAGTACCAGTGCCAGAACTTGTATCAACTTGAGGGTAAC
AATCAAATAACATGTAGAAACGGACAATGGTCAGAACCACCAAAATGCTTAGATCCATGTGTAATATCACAAGAAATTATGGAAAAATATAACATAAAATTAAAGTGGACAAACCAACAAAAGCTTTA
TTCAAGAACAGGTGACATAGTTGAATTTGTTTGTAAATCTGGATATCATCCAACAAAATCTCATTCATTTCGAGCAATGTGTCAGAATGGGAAACTGGTATATCCCAGTTGTGAAGAAAAATAGAATC
AATGGCATTACTATTAGTAAAATGCACACCTTTTTCTGAATTTACTATTATATTTGTTTTCAATTTCATTTTTCAAGTACTGTTTTACTCATTTTTATTCATAAATAAAGTTTTGTGTTGATTTGTGA
AAATGCAATTACAATCTGAGATGTGTCACAATGGTGAGGACTATCTTCACCAAATCTAAGTAACAACCTAGGAATTGTCTTTTTTTTTCTTTTTAAAAAAATTGACAATAACTGTATATATTCATGGA
GTACATAGTAATGTTTCCATATATATAATGTATAATGGTCAGTTAGGGTAATTAGTATATCCATTATCTCAAACATTTTTCATTTCTTTGGGTTAGGAGCATTAAATATTCTCCTTCCAGCTATTTGG
TACTTCATAGTATATTACTGGTAACTGAAGGAATTATATCTAGACGTTACCCCAGGTATCTTGAAATGTCAATTCCTAACAGTCACAGCCTGGGAGCTCATGTTTGCCTTCTTTCAGAGCTTGTAACT
ATGTATATCCACATAAATAATCAAAA

hide sequence

RefSeq Acc Id:

XM_011509458 ⟹ XP_011507760

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	196,943,738 - 196,959,622 (+)	NCBI

Sequence:

show sequence

TTCAAAGTCATGCTCATAACTGTTAATGAAAGCAGATTCAAAGCAACACCACCACCACTGAAGT
ATTTTTAGTTATATAAGATTGGAACTACCAAGCATGTGGCTCCTGGTCAGTGTAATTCTAATCTCACGGATATCCTCTGTTGGGGGAGAAGCAATGTTCTGTGATTTTCCAAAAATAAACCATGGAAT
TCTATATGATGAAGAAAAATATAAGCCATTTTCCCAAGTTCCTACAGGGGAAGTTTTCTATTACTCCTGTGAATATAATTTTGTGTCTCCTTCAAAATCCTTTTGGACTCGCATAACGTGCGCAGAAG
AAGGATGGTCACCAACACCAAAGTGTCTCAGACTGTGTTTCTTTCCTTTTGTGGAAAATGGTCATTCTGAATCTTCAGGACAAACACATCTGGAAGGTGATACTGTACAAATTATTTGCAACACAGGA
TACAGACTTCAAAACAATGAGAACAACATTTCATGTGTAGAACGGGGCTGGTCCACTCCTCCCAAATTTTCTGCAGAAAAATGTGGGCCCCCTCCACCTATTGACAATGGAGACATTACTTCATTCCT
GTTGTCAGTATATGCTCCAGGTTCATCAGTTGAGTACCAGTGCCAGAACTTGTATCAACTTGAGGGTAACAATCAAATAACATGTAGAAACGGACAATGGTCAGAACCACCAAAATGCTTAGATCCAT
GTGTAATATCACAAGAAATTATGGAAAAATATAACATAAAATTAAAGTGGACAAACCAACAAAAGCTTTATTCAAGAACAGGTGACATAGTTGAATTTGTTTGTAAATCTGGATATCATCCAACAAAA
TCTCATTCATTTCGAGCAATGTGTCAGAATGGGAAACTGGTATATCCCAGTTGTGAAGAAAAATAGAATCAATGGCATTACTATTAGTAAAATGCACACCTTTTTCTGAATTTACTATTATATTTGTT
TTCAATTTCATTTTTCAAGTACTGTTTTACTCATTTTTATTCATAAATAAAGTTTTGTGTTGATTTGTGAAAATGCAATTACAATCTGAGATGTGTCACAATGGTGAGGACTATCTTCACCAAATCTA
AGTAACAACCTAGGAATTGTCTTTTTTTTTCTTTTTAAAAAAATTGACAATAACTGTA

hide sequence

RefSeq Acc Id:

XM_011509459 ⟹ XP_011507761

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	196,943,738 - 196,959,622 (+)	NCBI

Sequence:

show sequence

ACTAAACTAGCTTCCAGTTAGTACACTGAAATTCAAAGTCATGCTCATAACTGTTAATGAAAGC
AGATTCAAAGCAACACCACCACCACTGAAGTATTTTTAGTTATATAAGATTGGAACTACCAAGCATGTGGCTCCTGGTCAGTGTAATTCTAATCTCACGGATATCCTCTGTTGGGGGAGAAGTTTTGT
GTTATTTTCCCAGCAATGTTCTGTGATTTTCCAAAAATAAACCATGGAATTCTATATGATGAAGAAAAATATAAGCCATTTTCCCAAGTTCCTACAGGGGAAGTTTTCTATTACTCCTGTGAATATAA
TTTTGTGTCTCCTTCAAAATCCTTTTGGACTCGCATAACGTGCGCAGAAGAAGGATGGTCACCAACACCAAAGTGTCTCAGACTGTGTTTCTTTCCTTTTGTGGAAAATGGTCATTCTGAATCTTCAG
GACAAACACATCTGGAAGGTGATACTGTACAAATTATTTGCAACACAGGATACAGACTTCAAAACAATGAGAACAACATTTCATGTGTAGAACGGGGCTGGTCCACTCCTCCCAAATGCAGGTCCACT
ATTTCTGCAGAAAAATGTGGGCCCCCTCCACCTATTGACAATGGAGACATTACTTCATTCCTGTTGTCAGTATATGCTCCAGGTTCATCAGTTGAGTACCAGTGCCAGAACTTGTATCAACTTGAGGG
TAACAATCAAATAACATGTAGAAACGGACAATGGTCAGAACCACCAAAATGCTTAGATCCATGTGTAATATCACAAGAAATTATGGAAAAATATAACATAAAATTAAAGTGGACAAACCAACAAAAGC
TTTATTCAAGAACAGGTGACATAGTTGAATTTGTTTGTAAATCTGGATATCATCCAACAAAATCTCATTCATTTCGAGCAATGTGTCAGAATGGGAAACTGGTATATCCCAGTTGTGAAGAAAAATAG
AATCAATGGCATTACTATTAGTAAAATGCACACCTTTTTCTGAATTTACTATTATATTTGTTTTCAATTTCATTTTTCAAGTACTGTTTTACTCATTTTTATTCATAAATAAAGTTTTGTGTTGATTT
GTGAAAATGCAATTACAATCTGAGATGTGTCACAATGGTGAGGACTATCTTCACCAAATCTAAGTAACAACCTAGGAATTGTCTTTTTTTTTCTTTTTAAAAAAATTGACAATAACTGTA

hide sequence

RefSeq Acc Id:

XM_011509460 ⟹ XP_011507762

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	196,943,738 - 196,959,622 (+)	NCBI

Sequence:

show sequence

TACTAAACTAGCTTCCAGTTAGTACACTGAAATTCAAAGTCATGCTCATAACTGTTAATGAAAGCAGATTCAAAGCAACACCACCACCACTGAAGTATTTTTAGTTATATAAGATTGGAACTACCAAG
CATGTGGCTCCTGGTCAGTGTAATTCTAATCTCACGGATATCCTCTGTTGGGGGAGAAGGACTGTGTTTCTTTCCTTTTGTGGAAAATGGTCATTCTGAATCTTCAGGACAAACACATCTGGAAGGTG
ATACTGTACAAATTATTTGCAACACAGGATACAGACTTCAAAACAATGAGAACAACATTTCATGTGTAGAACGGGGCTGGTCCACTCCTCCCAAATTTTCTGCAGAAAAATGTGGGCCCCCTCCACCT
ATTGACAATGGAGACATTACTTCATTCCTGTTGTCAGTATATGCTCCAGGTTCATCAGTTGAGTACCAGTGCCAGAACTTGTATCAACTTGAGGGTAACAATCAAATAACATGTAGAAACGGACAATG
GTCAGAACCACCAAAATGCTTAGATCCATGTGTAATATCACAAGAAATTATGGAAAAATATAACATAAAATTAAAGTGGACAAACCAACAAAAGCTTTATTCAAGAACAGGTGACATAGTTGAATTTG
TTTGTAAATCTGGATATCATCCAACAAAATCTCATTCATTTCGAGCAATGTGTCAGAATGGGAAACTGGTATATCCCAGTTGTGAAGAAAAATAGAATCAATGGCATTACTATTAGTAAAATGCACAC
CTTTTTCTGAATTTACTATTATATTTGTTTTCAATTTCATTTTTCAAGTACTGTTTTACTCATTTTTATTCATAAATAAAGTTTTGTGTTGATTTGTGAAAATGCAATTACAATCTGAGATGTGTCAC
AATGGTGAGGACTATCTTCACCAAATCTAAGTAACAACCTAGGAATTGTCTTTTTTTTTCTTTTTAAAAAAATTGACAATAACTGTA

hide sequence

RefSeq Acc Id:

XM_017001109 ⟹ XP_016856598

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	196,943,738 - 196,959,622 (+)	NCBI

Sequence:

show sequence

TTCAAAGTCATGCTCATAACTGTTAATGAAAGCAGATTCAAAGCAACACCACCACCACTGAAGTATTTTTAGTTATATAAGATTGGAACTACCAAGCATGTGGCTCCTGGTCAGTGTAATTCTAATCT
CACGGATATCCTCTGTTGGGGGAGAAGCAATGTTCTGTGATTTTCCAAAAATAAACCATGGAATTCTATATGATGAAGAAAAATATAAGCCATTTTCCCAAGTTCCTACAGGGGAAGTTTTCTATTAC
TCCTGTGAATATAATTTTGTGTCTCCTTCAAAATCCTTTTGGACTCGCATAACGTGCGCAGAAGAAGGATGGTCACCAACACCAAAGTGTCTCATTTCTGCAGAAAAATGTGGGCCCCCTCCACCTAT
TGACAATGGAGACATTACTTCATTCCTGTTGTCAGTATATGCTCCAGGTTCATCAGTTGAGTACCAGTGCCAGAACTTGTATCAACTTGAGGGTAACAATCAAATAACATGTAGAAACGGACAATGGT
CAGAACCACCAAAATGCTTAGATCCATGTGTAATATCACAAGAAATTATGGAAAAATATAACATAAAATTAAAGTGGACAAACCAACAAAAGCTTTATTCAAGAACAGGTGACATAGTTGAATTTGTT
TGTAAATCTGGATATCATCCAACAAAATCTCATTCATTTCGAGCAATGTGTCAGAATGGGAAACTGGTATATCCCAGTTGTGAAGAAAAATAGAATCAATGGCATTACTATTAGTAAAATGCACACCT
TTTTCTGAATTTACTATTATATTTGTTTTCAATTTCATTTTTCAAGTACTGTTTTACTCATTTTTATTCATAAATAAAGTTTTGTGTTGATTTGTGAAAATGCAATTACAATCTGAGATGTGTCACAA
TGGTGAGGACTATCTTCACCAAATCTAAGTAACAACCTAGGAATTGTCTTTTTTTTTCTTTTTAAAAAAATTGACAATAACTGTA

hide sequence

RefSeq Acc Id:

XM_054336210 ⟹ XP_054192185

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	196,205,558 - 196,221,447 (+)	NCBI

RefSeq Acc Id:

XM_054336211 ⟹ XP_054192186

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	196,205,558 - 196,221,447 (+)	NCBI

RefSeq Acc Id:

XM_054336212 ⟹ XP_054192187

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	196,205,558 - 196,221,447 (+)	NCBI


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
	ENSP00000496889
	ENSP00000497089
	ENSP00000497428
	ENSP00000514689
	ENSP00000517754.1
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:	show sequence MWLLVSVILISRISSVGGEAMFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRITCAEEGWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNIS CVERGWSTPPKCRSTISAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYNIKLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHSFRAM CQNGKLVYPSCEEK hide sequence

RefSeq Acc Id:	XP_011507761 ⟸ XM_011509459
- Peptide Label:	isoform X2
- UniProtKB:	A0A8V8TQS1 (UniProtKB/TrEMBL), V9GYE7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRITCAEEGWSPTPKCL RLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKCRSTISAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVISQE IMEKYNIKLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHSFRAMCQNGKLVYPSCEEK hide sequence

RefSeq Acc Id:	XP_011507762 ⟸ XM_011509460
- Peptide Label:	isoform X4
- UniProtKB:	A0A3B3IS00 (UniProtKB/TrEMBL)
- Sequence:	show sequence MWLLVSVILISRISSVGGEGLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISC VERGWSTPPKFSAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYNIKLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHSFRAMCQNGK LVYPSCEEK hide sequence

RefSeq Acc Id:	XP_011507760 ⟸ XM_011509458
- Peptide Label:	isoform X1
- UniProtKB:	V9GYE7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MWLLVSVILISRISSVGGEAMFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSK SFWTRITCAEEGWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKFSAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQ WSEPPKCLDPCVISQEIMEKYNIKLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHSFRAMCQNGKLVYPSCEEK hide sequence

RefSeq Acc Id:	NP_001299601 ⟸ NM_001312672
- Peptide Label:	isoform 2 precursor
- UniProtKB:	A0A3B3IS28 (UniProtKB/TrEMBL)
- Sequence:	show sequence MWLLVSVILISRISSVGGEVSAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYNIKLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHS FRAMCQNGKLVYPSCEEK hide sequence

Protein Domains

Sushi

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

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 Assembly	Chr	Position (strand)	Source
GRCh38	1	196,943,799 - 196,943,859	EPDNEW

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.

Database	Acc Id	Source(s)
COSMIC	CFHR2	COSMIC
Ensembl Genes	ENSG00000080910	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000292003	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000367415	ENTREZGENE
	ENST00000367415.8	UniProtKB/Swiss-Prot
	ENST00000473386	ENTREZGENE
	ENST00000489703	ENTREZGENE
	ENST00000496448	ENTREZGENE
	ENST00000649960	ENTREZGENE
	ENST00000709546.1	UniProtKB/Swiss-Prot
Gene3D-CATH	Complement Module, domain 1	UniProtKB/Swiss-Prot
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
	Sushi/SCR/CCP_sf	UniProtKB/Swiss-Prot
	Sushi_SCR_CCP_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:3080	UniProtKB/Swiss-Prot
NCBI Gene	3080	ENTREZGENE
OMIM	600889	OMIM
PANTHER	COMPLEMENT FACTOR H-RELATED	UniProtKB/Swiss-Prot
	COMPLEMENT FACTOR H-RELATED PROTEIN 1-RELATED	UniProtKB/Swiss-Prot
Pfam	Sushi	UniProtKB/Swiss-Prot
PharmGKB	PA29267	PharmGKB
PROSITE	SUSHI	UniProtKB/Swiss-Prot
SMART	CCP	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF57535	UniProtKB/Swiss-Prot
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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar