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CD46 Gene

protein-coding GIFtS: 68

GC01P205992

CD46 molecule, complement regulatory protein
(Previous names: antigen identified by monoclonal antibody TRA-2-10, membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen), CD46 antigen, complement regulatory protein )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: MIC10, MCP)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
MCP ^², ³, ⁵
MGC26544 ^¹, ²
MIC10 ^², ³
OTTHUMP00000034577 ^²
OTTHUMP00000034622 ^²
OTTHUMP00000034623 ^²
OTTHUMP00000034624 ^²
OTTHUMP00000034625 ^²
OTTHUMP00000034626 ^²
OTTHUMP00000034706 ^²
TLX ^¹, ², ³
TRA2.10 ^¹, ²

Descriptions
CD46 antigen ^³
CD46 antigen, complement regulatory protein ^¹, ²
CD46 molecule, complement regulatory protein ^²
Trophoblast leukocyte common antigen ^³
antigen identified by monoclonal antibody TRA-2-10 ^¹, ²
complement membrane cofactor protein ^²
measles virus receptor ^²
membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen) ^¹, ²
trophoblast leucocyte common antigen ^²

External Ids
HGNC: 6953¹
Entrez Gene: 4179²
UniProtKB: P15529³
Ensembl: ENSG00000117335⁷

Search outside databases for aliases for CD46 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CD46:

The protein encoded by this gene is a type I membrane protein and is a regulatory part of the

complement system. The encoded protein has cofactor activity for inactivation of complement

components C3b and C4b by serum factor I, which protects the host cell from damage by complement.

In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus,

human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by

this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization.

This gene is found in a cluster on chromosome 1q32 with other genes encoding structural components

of the complement system. At least fourteen different transcript variants encoding fourteen

different isoforms have been found for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: MCP_HUMAN, P15529

Function: Acts as a cofactor for complement factor I, a serine protease which protects autologous

cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be

involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a

costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1

cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore

are thought to prevent autoimmunity. A number of viral and bacterial pathogens seem to exploit

this property and directly induce an immunosuppressive phenotype in T-cells by binding to CD46

Gene Wiki entry for CD46

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CD46 gene

Entrez Gene cytogenetic band: 1q32 Ensembl cytogenetic band: 1q32.2 HGNC cytogenetic band: 1q32

CD46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P205992: (about GC identifiers)

Start:	205,992,025 bp from pter
End:	206,035,481 bp from pter
Size:	43,457 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000001.9 NT_021877.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: MCP_HUMAN, P15529 (See protein sequence)

Recommended Name: Membrane cofactor protein precursor

Size: 392 amino acids; 43747 Da

Subunit: Interacts with C3b and C4b. Binds to Measles virus H protein, to Human herpesvirus 6 GH

protein and to human adenovirus B/D PIV/fiber protein, and acts as a receptor for these viruses.

Binds to Streptococcus pyogenes M protein and to type IV pili from Neisseria, and may act as a

receptor for these pathogenic bacteria

Subcellular location: Acrosome inner membrane; Single-pass type I membrane protein. Note=Inner

acrosomal membrane of spermatozoa. Internalized upon binding of Measles virus, Herpesvirus 6 or

Neisseria gonorrhoeae, which results in an increased susceptibility of infected cells to

complement-mediated injury. In cancer cells or cells infected by Neisseria, shedding leads to a

soluble peptide

PDB structures from and Proteopedia :

1CKL (3D)

1HR4 (3D)

2O39 (3D)

Secondary accessions: A0T1T0 A0T1T1 A0T1T2 Q15429 Q53GV9 Q5HY94 Q5VWS6 Q5VWS7 Q5VWS8 Q5VWS9 Q5VWT0

Q5VWT1 Q5VWT2 Q6N0A1 Q7Z3R5 Q9NNW2 Q9NNW3 Q9NNW4 Q9UCJ4

Alternative splicing: 16 isoforms: P15529-1 P15529-2 P15529-11 P15529-3 P15529-12 P15529-4 P15529-13 P15529-5

P15529-14 P15529-6 P15529-15 P15529-7 P15529-8 P15529-9 P15529-10 P15529-16

(Additional isoforms seem to exist. The complete sequences of the isoforms are not known. Isoforms are classified as alpha (isoform C and isoform D), beta (isoform E and isoform F), gamma (isoform A and isoform B) and delta (isoform N). Isoforms gamma are preferentially expressed in EBV-B cells and leukemic cells. Isoforms alpha (66 kDa) and isoforms beta (56 kDa) are found in all tissues except sperm. Isoform delta is expressed in spermatozoa. The exon 9 is specifically deleted in some placentae isoforms. All tissues differentially splice exon 13)

Post-translational modifications:

N-glycosylated on Asn-83; Asn-114 and Asn-273 in most tissues, but probably less N-glycosylated in

testis. N-glycosylation on Asn-114 and Asn-273 is required for cytoprotective function.

N-glycosylation on Asn-114 is required for Measles virus binding. N-glycosylation on Asn-273 is

required for Neisseria binding. N-glycosylation is not required for human adenovirus binding¹

Extensively O-glycosylated in the Ser/Thr-rich domain. O-glycosylation is required for Neisseria

binding but not for Measles virus or human adenovirus binding¹

In epithelial cells, isoforms B/D/F/H/J/L/3 are phosphorylated by YES1 in response to infection by

Neisseria gonorrhoeae; which promotes infectivity. In T-cells, these isoforms may be

phosphorylated by Lck¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (14 alternative transcripts):

NP_002380.3 NP_722548.1 NP_758860.1 NP_758861.1 NP_758862.1 NP_758863.1 NP_758864.1 NP_758865.1

NP_758866.1 NP_758867.1 NP_758868.1 NP_758869.1 NP_758870.1 NP_758871.1

ENSEMBL proteins:

ENSP00000314664 ENSP00000354358 ENSP00000353342 ENSP00000346912 ENSP00000350346 ENSP00000313875

ENSP00000356014 ENSP00000375784 ENSP00000375782 ENSP00000375781 ENSP00000375780 ENSP00000375779

ENSP00000350893 ENSP00000356009 ENSP00000356008

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (CD46)
	Human Recombinant Proteins from Abnova (MCP)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002079	inner acrosomal membrane	IEA	--
GO:0005886	plasma membrane	NAS	1711570
GO:0005887	integral to plasma membrane	TAS	1711570

About this table

Antibodies for CD46:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of CD46
	Sigma-Aldrich Antibodies for CD46
	R&D Systems Antibodies for CD46
	Antibodies from Abcam (CD46), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (MCP)
	Novus Biologicals Antibodies for CD46

Assays for CD46:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P15529

ProtoNet protein and cluster: P15529

1 Blocks protein family: IPB000436 Sushi domain/SCR domain/CCP module

UniProtKB/Swiss-Prot: MCP_HUMAN, P15529

Domain: Sushi domains 1 and 2 are required for interaction with human adenovirus B PIV/FIBER

protein and with Measles virus H protein. Sushi domains 2 and 3 are required for Herpesvirus 6

binding. Sushi domain 3 is required for Neisseria binding. Sushi domains 3 and 4 are required for

interaction with Streptococcus pyogenes M protein and are the most important for interaction with

C3b and C4b

Similarity: Contains 4 Sushi (CCP/SCR) domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CD46)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (MCP)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 14): NM_002389

Applied Biosystems Silencer® siRNAs for CD46

Sigma-Aldrich siRNA for CD46

Sigma-Aldrich shRNA for CD46

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for CD46
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 14): NM_002389
Myc/DDK tagged cDNA clones in CMV expression vector (see all 14): NM_002389
untagged cDNA clones in CMV expression vector (see all 16): NM_002389

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_172359

UniProtKB/Swiss-Prot: MCP_HUMAN, P15529

Function: Acts as a cofactor for complement factor I, a serine protease which protects autologous

cells against complement-mediated injury by cleaving C3b and C4b deposited on host tissue. May be

involved in the fusion of the spermatozoa with the oocyte during fertilization. Also acts as a

costimulatory factor for T-cells which induces the differentiation of CD4+ into T-regulatory 1

cells. T-regulatory 1 cells suppress immune responses by secreting interleukin-10, and therefore

are thought to prevent autoimmunity. A number of viral and bacterial pathogens seem to exploit

this property and directly induce an immunosuppressive phenotype in T-cells by binding to CD46

1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Cd46):

reproductive system

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	TAS	8402913

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for CD46 (Your Favorite Gene powered by Ingenuity)

Complement System

GeneDecks CD46 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for CD46

5/26 Interacting proteins for CD46 (ENSP00000313875³ P15529²) via UniProtKB, MINT, and/or STRING (see all 26 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C3	ENSP00000245907³	STRING (score=.997)
MSN	ENSP00000353408³	STRING (score=.992)
YES1	ENSP00000324740³	STRING (score=.939)
CD59	ENSP00000340210³	STRING (score=.912)
C9orf30	ENSP00000364013³	STRING (score=.903)

About this table

4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006958	complement activation, classical pathway	IEA	--
GO:0007338	single fertilization	IEA	--
GO:0044419	interspecies interaction between organisms	IEA	--
GO:0045087	innate immune response	IEA	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for CD46
10/18 Novoseek chemical compound relationships for CD46 gene (see all 18 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
ad 11	84.22	9	12915534 (2), 15078926 (1), 16142339 (1), 15795294 (1) (see all 7)
hmcp	80.07	3	11477359 (1), 16324389 (1), 18976220 (1)
penton	53.36	1	16114109 (1)
lactosylceramide	25.78	1	1825464 (1)
slex	21.69	1	10769630 (1)
rantes	16.24	6	10502563 (5), 19323903 (1)
hind iii	14.59	2	16253969 (1), 8388398 (1)
threonine	12.17	8	8418811 (1), 1711570 (1), 8077916 (1), 7998929 (1) (see all 5)
mannose	9.42	2	9659228 (1), 12544886 (1)
calcium	2.81	5	8195355 (1), 15307176 (1), 9135521 (1), 10657632 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CD46)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (MCP)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 14): NM_002389

Sigma-Aldrich siRNA for CD46

Sigma-Aldrich shRNA for CD46

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_002389 NM_153826 NM_172350 NM_172351 NM_172352 NM_172353 NM_172354 NM_172355

NM_172356 NM_172357 NM_172358 NM_172359 NM_172360 NM_172361

REFSEQ mRNAs for CD46 gene (14 alternative transcripts):

NM_002389.3 NM_153826.2 NM_172350.1 NM_172351.1 NM_172352.1 NM_172353.1 NM_172354.1 NM_172355.1

NM_172356.1 NM_172357.1 NM_172358.1 NM_172359.1 NM_172360.1 NM_172361.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_002389 NM_153826 NM_172350 NM_172351 NM_172352 NM_172353 NM_172354 NM_172355

NM_172356 NM_172357 NM_172358 NM_172359 NM_172360 NM_172361

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 14): NM_002389
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 14): NM_002389
                                 untagged cDNA clones in CMV expression vector (see all 16): NM_002389

Additional cDNA sequence:

AF209712.1 AF209713.1 AF209714.1 AK129560.1 AK222822.1 AK291227.1 AK296819.1 BC007046.1

BC026273.1 BC030594.2 BX640613.1 BX649050.1 CR604185.1 CR616292.1 D84105.1 EF076055.1

EF076056.1 EF076057.1 EF076058.1 M58050.1 S51940.1 X59405.1 X59406.1 X59407.1

X59408.1 X59409.1 X59410.1 Y00651.1 Y07713.1

24/43 DOTS entries (see all 43 ):

DT.100844576 DT.450315 DT.100887072 DT.100887052 DT.75168408 DT.100887062 DT.95101671 DT.95101720

DT.100887046 DT.100038752 DT.92462581 DT.121358981 DT.100887071 DT.95101719 DT.100887047 DT.100887053

DT.100038761 DT.121358886 DT.86859691 DT.92462596 DT.121358933 DT.121359012 DT.100887064 DT.40205557

24/871 AceView cDNA sequences (see all 871 ):

BM021829 AW059683 NM_172361 AI085373 NM_172358 BX364970 CR604185 AL544589

BM999546 CA450160 AU135568 NM_002389 BM755917 F09037 BM783467 NM_172357

BQ631214 BU674637 NM_172356 AU132272 W31941 AI361077 BQ882516 CR616292

highest scoring ESTs for CD46:

AA021144 AA035520 AA075733 AA075786 AA079896 AA115311 AA115784 AA115785 AA164725 AA164800

Unigene Cluster for CD46:

CD46 molecule, complement regulatory protein

Hs.510402 [show with all ESTs]

Unigene Representative Sequence: NM_002389

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CD46 (see all 9 )

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	^	9a	·	9b	·	9c	^	10	^	11	^	12	^	13a	·	13b	^	14	^	15a	·	15b	·	15c	·	15d	·	15e	·
SP1:																	-		-		-				-		-				-
SP2:																	-				-				-		-				-										-
SP3:																	-		-		-				-		-				-										-
SP4:																	-		-		-		-		-		-				-
SP5:																	-		-		-		-		-		-				-										-

ExUns:	15f
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for CD46

15 Ensembl transcripts including schematic representations:

ENST00000322918 ENST00000361067 ENST00000360212 ENST00000354848 ENST00000357714 ENST00000322875

ENST00000367047 ENST00000391917 ENST00000391915 ENST00000391914 ENST00000391913 ENST00000391912

ENST00000358170 ENST00000367042 ENST00000367041

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

CD46 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CD46

¹ / ² / ³

7 probe-sets matching CD46 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38441_s_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	X59408	0.80	1.00	0.91	1
208783_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AL570661	0.80	1.00	0.91	1
211574_s_at²^{, 3}	U133-A	2	1.00	0.91	--	--	D84105	0.80	1.00	0.91	1
207549_x_at²^{, 3}	U133-A	2	1.00	0.91	--	--	NM_002389	0.60	1.00	0.82	1
208783_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211574_s_at²	U133Plus2	2	1.00	0.91	--	--	--	--	--	--	--
207549_x_at²	U133Plus2	2	1.00	0.91	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CTTTTCAAGA

SOURCE GeneReport for Unigene cluster: Hs.510402
UniProtKB/Swiss-Prot: MCP_HUMAN, P15529
Tissue specificity: Expressed by all cells except erythrocytes

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CD46 gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
chimpanzee (Pan troglodytes)	CD46¹	--	CD46 molecule, complement regulatory protein	99.19(n) 98.65(a)	469663 XM_001167437.1 XP_001167437.1
rat (Rattus norvegicus)	Cd46¹	--	CD46 molecule, complement regulatory protein	67.89(n) 51.52(a)	29333 NM_019190.1 NP_062063.1
mouse (Mus musculus)	Cd46^{1, 5}	1 (106.60 cM)⁵	CD46 antigen, complement regulatory protein^{1, 5}	65.4(n)¹ 48.98(a)¹	17221¹ NM_010778.3¹ NP_034908.1¹ AB001566⁵ AB010919⁵ (see all 11)

About this table Species with no ortholog for CD46

ENSEMBL Gene Tree for CD46

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for CD46 gene

CR1L² CR2² C4BPA² CD55² CR1²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/301 NCBI SNPs in CD46 are shown (see all 301 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 69)

AB	SNP ID	Valid	Chr 1 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
--	rs2796267^1,2	A,C,F,H,O	205991529(+)	`AGCAGA/GCATTC`	14	--	ng5¹		9	EA MN EU WA NS	3258
	rs7144^1,2	A,C,F,H,O	206034342(+)	`CTTGTT/CGTTTT`	14	--	ut3¹		23	MN NA EU EA WA NS	2224
	rs14374^1,2	A,C,F,H	206034880(+)	`AGATAT/CGATTG`	14	--	ut3¹ ese³		14	MN NA NS EU EA WA	1248
--	rs17006830^1,2	C,F,H	206007103(+)	`GCAGCG/AACACA`	14	N/D	mis¹ ese³		13	NA EU EA WA NS	1058
	rs2796268^1,2	A,C,F	205991815(+)	`TTCCCA/GCAGGA`	14	--	ng5¹ tfbs³		5	EA MN NS	2818
--	rs1970530^1,2	A,C,F	205990689(+)	`TGCCAA/GTTTGG`	14	--	ng5¹		2	NS	90
	rs1237^1,2	A,C,F	206035320(-)	`CATTTA/CAACAA`	14	--	ut3¹		4	MN NS	280
--	rs11118514^1,2	C,F	205990894(+)	`CAGCTC/GTGATG`	14	--	ng5¹		2	NS	74
--	rs6664092^1,2	C,F	206034363(+)	`ACTCCG/ATATGT`	14	--	ut3¹ ese³		2	NS	94
	rs2724390^1,2	C	206033948(+)	`AGATTA/GTTCTT`	14	--	ut3¹		2	NS	88

About this table

HapMap Linkage Disequilibrium images for CD46 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 120920

UniProtKB/Swiss-Prot: MCP_HUMAN, P15529

Specific defects in the sperm forms of CD46 were found in 3 infertile patients

Defects in CD46 are a cause of atypical hemolytic-uremic syndrome (HUS) [MIM:235400]. HUS

is a microvasculature disorder leading to microangiopathic hemolytic anemia associated with

distorted erythrocytes ('burr cells'), thrombocytopenia, and acute renal failure. Both dominant

and recessive modes of inheritance have been reported. Most cases of HUS are associated with

epidemics of diarrhea caused by verocytotoxin-producing bacteria, but atypical cases of HUS not

associated with diarrhea (aHUS) also occur

10/91 Novoseek disease relationships for CD46 gene (see all 91 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
measles	85.93	196	8083969 (7), 9079815 (4), 11287589 (3), 8402913 (3) (see all 96)
uremic syndrome	79.74	27	17027083 (1), 17599974 (1), 18423815 (1), 16913667 (1) (see all 19)
subacute sclerosing panencephalitis	68.64	8	9386776 (2), 11950898 (2), 10751138 (2), 7732009 (1)
purpura thrombotic thrombocytopenic	55.94	3	16762990 (1), 18557729 (1)
arthus reaction	55.46	1	16038633 (1)
distemper canine	43.33	3	7745681 (1), 9811778 (1)
epidemic keratoconjunctivitis	42.57	1	15047806 (1)
afibrinogenemia	39.31	2	16387683 (1)
glomerulonephritis membranoproliferative	37.75	1	8398646 (1)
peste des petits ruminants	35.32	2	9811778 (1)

About this table

GeneTests: CD46

Atypical Hemolytic-Uremic Syndrome

Human Gene Mutation Database: CD46
Genetic Association Database: CD46
Human Genome Epidemiology Navigator: CD46 (8 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/532 PubMed articles for CD46 gene (see all 532 ):

Membrane cofactor protein (MCP; CD46): isoform-specific tyrosine phosphorylation. (PubMed id 10657632)^{1, 3, 4} Wang G.... Atkinson J.P. (2000)
Alternatively spliced RNAs encode several isoforms of CD46 (MCP), a regulator of complement activation. (PubMed id 2050389)^{1, 3, 4} Purcell D.F....McKenzie I.F. (1991)
Measles virus and C3 binding sites are distinct on membrane cofactor protein (CD46). (PubMed id 7534417)^{1, 3, 4} Manchester M.... Oldstone M.B. (1995)
Membrane cofactor protein (MCP or CD46) is a cellular pilus receptor for pathogenic Neisseria. (PubMed id 9379894)^{1, 3, 4} Kaellstroem H.... Jonsson A.-B. (1997)
Complement inhibitor membrane cofactor protein (MCP; CD46) is constitutively shed from cancer cell membranes in vesicles and converted by a metalloproteinase to a functionally active soluble form. (PubMed id 15307194)^{1, 3, 4} Hakulinen J.... Meri S. (2004)
Identification of the streptococcal M protein binding site on membrane cofactor protein (CD46). (PubMed id 11971006)^{1, 3, 4} Giannakis E....Gordon D.L. (2002)
Localization of regions in CD46 that interact with adenovirus. (PubMed id 15919905)^{1, 3, 4} Gaggar A....Lieber A. (2005)
Down-regulation of CD46 by piliated Neisseria gonorrhoeae. (PubMed id 14597734)^{1, 3, 4} Gill D.B.... Atkinson J.P. (2003)
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. (PubMed id 14566051)^{1, 3, 4} Richards A.... Goodship T.H.J. (2003)
Post-translational modification and intracellular localization of a splice product of CD46 cloned from human testis: role of the intracellular domains in O-glycosylation. (PubMed id 9659228)^{1, 3, 4} Hara T.... Seya T. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 4179	HGNC: 6953	AceView: MCP	Ensembl:ENSG00000117335	euGenes: HUgn4179
ECgene: CD46	H-InvDB: CD46

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=CD46
SeattleSNPs	http://pga.gs.washington.edu/data/mcp/

Licensable Technologies for CD46
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Enzo Life Sciences, and/or Tocris Bioscience)
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Products for CD46:

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CD46 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for CD46

Summaries
for CD46

Genomic Location
for CD46

Proteins
for CD46

Protein Domains/
Families
for CD46

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for CD46

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for CD46

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for CD46

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for CD46

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CD46 (Gene Symbol)
MCP
MGC26544
MIC10
OTTHUMP00000034577
OTTHUMP00000034622
OTTHUMP00000034623
OTTHUMP00000034624
OTTHUMP00000034625
OTTHUMP00000034626
OTTHUMP00000034706
TLX
TRA2.10
CD46 antigen
CD46 antigen, complement regulatory protein
CD46 molecule, complement regulatory protein
Trophoblast leukocyte common antigen
antigen identified by monoclonal antibody TRA-2-10
complement membrane cofactor protein
measles virus receptor
membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)
trophoblast leucocyte common antigen

CD46 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor CD46

Summariesfor CD46

Genomic Locationfor CD46

Proteinsfor CD46

Protein Domains/Familiesfor CD46

Gene Functionfor CD46

Pathways & Interactionsfor CD46

Drugs & Compoundsfor CD46

Transcriptsfor CD46

Expression for CD46

Orthologsfor CD46

Paralogsfor CD46

SNPs/Variantsfor CD46

Disorders & Mutationsfor CD46

Medical Newsfor CD46

Publicationsfor CD46

Search for CD46

Genome Databases showing CD46

Other Databases showing CD46

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Licensable Technologiesfor CD46

Servicesfor CD46

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CD46

Summaries
for CD46

Genomic Location
for CD46

Proteins
for CD46

Protein Domains/
Families
for CD46

Gene Function
for CD46

Pathways & Interactions
for CD46

Drugs & Compounds
for CD46

Transcripts
for CD46

Expression
for CD46

Orthologs
for CD46

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for CD46

SNPs/Variants
for CD46

Disorders & Mutations
for CD46

Medical News
for CD46

Publications
for CD46

Licensable Technologies
for CD46

Services
for CD46