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PTPRC Gene

protein-coding GIFtS: 74

GC01P196874

protein tyrosine phosphatase, receptor type, C
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CD45)

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

Aliases
B220 ^²
CD45 ^², ³, ⁵
CD45R ^²
EC 3.1.3.48 ^³
GP180 ^¹, ²
L-CA ^³
LCA ^¹, ², ⁵
LY5 ^²
T200 ^¹, ², ³
glycoprotein ^²

Descriptions
CD45 antigen ^², ³
T200 glycoprotein ^²
T200 leukocyte common antigen ^²
leukocyte-common antigen ^²
protein tyrosine phosphatase, receptor type, C ^²
protein tyrosine phosphatase, receptor type, c polypeptide ^²

External Ids
HGNC: 9666¹
Entrez Gene: 5788²
UniProtKB: P08575³
Ensembl: ENSG00000081237⁷

Search outside databases for aliases for PTPRC gene

Previous GC identifers: GC01P196335 GC01P194066 GC01P195074 GC01P195896 GC01P195339

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

EntrezGene summary for PTPRC:

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs

are known to be signaling molecules that regulate a variety of cellular processes including cell

growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an

extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic

domains, and thus belongs to receptor type PTP. This gene is specifically expressed in

hematopoietic cells. This PTP has been shown to be an essential regulator of T- and B-cell antigen

receptor signaling. It functions through either direct interaction with components of the antigen

receptor complexes, or by activating various Src family kinases required for the antigen receptor

signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine

receptor signaling. Four alternatively spliced transcripts variants of this gene, which encode

distinct isoforms, have been reported. [provided by RefSeq]

UniProtKB/Swiss-Prot: CD45_HUMAN, P08575

Function: Required for T-cell activation through the antigen receptor. The first PTPase domain has

enzymatic activity, while the second one seems to affect the substrate specificity of the first

one. Upon T-cell activation, recruits an dephosphorylates SKAP1 and FYN

Gene Wiki entry for PTPRC

(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 PTPRC gene

Entrez Gene cytogenetic band: 1q31-q32 Ensembl cytogenetic band: 1q31.3 HGNC cytogenetic band: 1q31-q32

PTPRC 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 GC01P196874: (about GC identifiers)

Start:	196,874,424 bp from pter
End:	196,993,168 bp from pter
Size:	118,745 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000001.9 NT_004487.18

(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)
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UniProtKB/Swiss-Prot: CD45_HUMAN, P08575 (See protein sequence)

Recommended Name: Leukocyte common antigen precursor

Size: 1304 amino acids; 147254 Da

Subunit: Binds GANAB and PRKCSH (By similarity). Interacts with SKAP1

Subcellular location: Membrane; Single-pass type I membrane protein

PDB structure from and Proteopedia :

1YGR (3D)

1YGU (3D)

Secondary accessions: A8K7W6 Q16614 Q9H0Y6

Alternative splicing: 2 isoforms: P08575-1 P08575-2 (At least 8 isoforms are produced)

Post-translational modifications:

Heavily N- and O-glycosylated¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (4 alternative transcripts):

NP_002829.2 NP_563578.1 NP_563579.1 NP_563580.1

ENSEMBL proteins:

ENSP00000271610 ENSP00000356342 ENSP00000356349 ENSP00000356336 ENSP00000375831 ENSP00000356335

ENSP00000356334 ENSP00000356346 ENSP00000193532 ENSP00000306782 ENSP00000356337

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant PTPRC Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Enzo Life Sciences proteins for PTPRC
	Recombinant Proteins from Abcam (CD45RA + CD8, CD3 + CD4 + CD45, CD45RO, CD45RB, CD45RA + CD4, CD45, CD45RA + CD3, CD3 + CD8 + CD45, CD45RC, CD45.2, CD45.1, CD3 + CD16 + CD56 + CD45, CD4 + CD45RO, CD3 + CD19 + CD45, CD45R, CD45RA, CD34 + CD45, CD45 + CD14)
	Human Recombinant Proteins from Abnova (PTPRC)

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	18029348
GO:0005886	plasma membrane	EXP	11827988
GO:0005887	integral to plasma membrane	ISS	--
GO:0005925	focal adhesion	ISS	--

About this table

Antibodies for PTPRC:

	Invitrogen Antibodies for PTPRC
	Millipore Mono- and Polyclonal Antibodies for the study of PTPRC
	Sigma-Aldrich Antibodies for PTPRC
	R&D Systems Antibodies for PTPRC (CD45)
	Cell Signaling Technology (CST) Antibodies for PTPRC (CD45)
	Antibodies from Abcam (CD45RA + CD8, CD3 + CD4 + CD45, CD45RO, CD45RB, CD45RA + CD4, CD45, CD45RA + CD3, CD3 + CD8 + CD45, CD45RC, CD45.2, CD45.1, CD3 + CD16 + CD56 + CD45, CD3 + CD19 + CD45, CD4 + CD45RO, CD45R, CD34 + CD45, CD45RA, CD45 + CD14), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (PTPRC)
	Novus Biologicals Antibodies for PTPRC

Assays for PTPRC:

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

(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 P08575

ProtoNet protein and cluster: P08575

1 Blocks protein family: IPB000242 Protein tyrosine phosphatase signature

UniProtKB/Swiss-Prot: CD45_HUMAN, P08575

Domain: The first PTPase domain interacts with SKAP1

Similarity: Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily

Similarity: Contains 2 fibronectin type-III domains

Similarity: Contains 2 tyrosine-protein phosphatase 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 (PTPRC)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PTPRC)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_002838

Applied Biosystems Silencer® siRNAs for PTPRC

Sigma-Aldrich siRNA and siRNA Panels for PTPRC

Sigma-Aldrich shRNA Panels and shRNA for PTPRC

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_002838
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_002838
untagged cDNA clones in CMV expression vector (see all 7): NM_002838

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_002838

UniProtKB/Swiss-Prot: CD45_HUMAN, P08575

Function: Required for T-cell activation through the antigen receptor. The first PTPase domain has

enzymatic activity, while the second one seems to affect the substrate specificity of the first

one. Upon T-cell activation, recruits an dephosphorylates SKAP1 and FYN

Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate

Enzyme Number (IUBMB): EC 3.1.3.48

Genatlas biochemistry entry for PTPRC:

protein tyrosine phosphatase,receptor-type I,C polypeptide

12 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Ptprc):

digestive/alimentary	growth/size	hematopoietic system	homeostasis/metabolism	immune system
lethality-postnatal	life span-post-weaning/aging	liver/biliary system	normal	renal/urinary system
respiratory system	tumorigenesis

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005001	transmembrane receptor protein tyrosine phosphatase activity	TAS	2845400
GO:0005515	protein binding	IPI	1970422
GO:0016787	hydrolase activity	IEA	--
GO:0019901	protein kinase binding	IPI	14625311

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.)
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5 Sigma-Aldrich "Your Favorite Gene" Pathways for PTPRC (Your Favorite Gene powered by Ingenuity)

B Cell Receptor Signaling
iCOS-iCOSL Signaling in T Helper Cells
Primary Immunodeficiency Signaling
CD28 Signaling in T Helper Cells
T Cell Receptor Signaling

GeneDecks PTPRC for the pathways selected above

About GeneDecksing

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

5/203 Interacting proteins for PTPRC (ENSP00000356346³ P08575^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 203 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CSK	P41240¹	STRING (score=.973) EBI-1341, EBI-1380630
INSR	P06213¹	STRING (score=.764) EBI-1341, EBI-475899
LCK	P06239¹	STRING (score=.999) EBI-1341, EBI-1348
CBL	P22681¹	EBI-1341, EBI-518228
CDH2	P19022¹	EBI-1341, EBI-2256711

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5/17 Gene Ontology (GO) biological process terms (links to tree view) (see all 17 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001915	negative regulation of T cell mediated cytotoxicity	ISS	--
GO:0001960	negative regulation of cytokine-mediated signaling pathway	ISS	--
GO:0002378	immunoglobulin biosynthetic process	IMP	1793833
GO:0006469	negative regulation of protein kinase activity	ISS	--
GO:0006470	protein amino acid dephosphorylation	ISS	--

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(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

Enzo Life Sciences drugs & compounds for PTPRC

Sigma-Aldrich Small Molecules for PTPRC:

Inhibitor

Browse Tocris compounds for PTPRC
10/40 Novoseek chemical compound relationships for PTPRC gene (see all 40 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	75.45	317	7516335 (4), 8011300 (4), 1652760 (4), 1371471 (4) (see all 99)
phosphotyrosine	69.48	23	1361757 (3), 1682382 (2), 1710891 (1), 16266868 (1) (see all 19)
ziram	65.64	7	7522974 (1), 2138598 (1), 1830500 (1)
[alcl]	54.84	2	1330283 (1), 18323280 (1)
naphthol as-d chloroacetate	54.43	2	2031458 (1), 2106752 (1)
monochloroacetic acid	46.32	3	10199480 (1), 10578990 (1)
b 723	45.13	3	1710419 (1), 1689123 (1), 1709321 (1)
p-nitrophenyl phosphate	41.70	1	12215216 (1)
n-acetyllactosamine	31.49	2	15034044 (1), 9492296 (1)
phycoerythrin	30.80	2	9149913 (1)

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2 PharmGKB drug compound relationships for PTPRC gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
mercaptopurine	PD FA GN	12704389
methotrexate	PD FA GN	12704389

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 (PTPRC)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PTPRC)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_002838

Sigma-Aldrich siRNA and siRNA Panels for PTPRC

Sigma-Aldrich shRNA Panels and shRNA for PTPRC

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_002838 NM_080921 NM_080922 NM_080923

REFSEQ mRNAs for PTPRC gene (4 alternative transcripts):

NM_002838.3 NM_080921.2 NM_080922.2 NM_080923.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_002838 NM_080921 NM_080922 NM_080923

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_002838
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_002838
                                 untagged cDNA clones in CMV expression vector (see all 7): NM_002838

Additional cDNA sequence:

AK130573.1 AK292131.1 AK299986.1 AK303539.1 AK307635.1 AK308217.1 AK310898.1 AY429565.1

AY429566.1 AY567999.1 BC014239.2 BC017863.1 BC031525.1 BC121086.1 BC121087.1 BC127656.1

BC127657.1 BC148257.1 CR621867.1 Y00062.1 Y00638.1

24/36 DOTS entries (see all 36 ):

DT.91865616 DT.97839257 DT.415341 DT.100816605 DT.99965985 DT.91985039 DT.95321602 DT.40261905

DT.91638349 DT.99999416 DT.100816604 DT.121393941 DT.99947129 DT.121393829 DT.121393843 DT.206284

DT.40220962 DT.86859254 DT.91757224 DT.95324604 DT.100023408 DT.121393811 DT.121393815 DT.121393853

24/263 AceView cDNA sequences (see all 263 ):

CB157202 BM801036 BX437239 BU753482 CR621867 CD366621 NM_002838 AY429565

AI432977 AY567999 AW512359 BE501725 AW327773 AI416959 AI433565 H74264

AA923606 AI081674 AA361747 AW518563 NM_080923 AA311026 AA780379 AI623976

highest scoring ESTs for PTPRC:

Y00638 Y00062 AA403163 AA403231 AA443343 AA563844 AA569250 AA715806 AA923606 AI081674

Unigene Cluster for PTPRC:

Protein tyrosine phosphatase, receptor type, C

Hs.654514 [show with all ESTs]

Unigene Representative Sequence: NM_002838

GeneLoc Exon Structure

5/17 Alternative Splicing Database (ASD) splice patterns (SP) for PTPRC (see all 17 )

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8a	·	8b	·	8c	^	9a	·	9b	·	9c	·	9d	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16	^
SP1:													-		-								-		-		-								-										-
SP2:
SP3:
SP4:
SP5:			-		-		-						-		-								-

ExUns:	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^	27	^	28a	·	28b	·	28c	^	29a	·	29b	^	30a	·	30b	^	31a	·	31b	^	32a	·	32b	^	33a	·	33b	^	34a	·	34b	^
SP1:
SP2:																							-
SP3:
SP4:																																																			-
SP5:

About this scheme

ECgene alternative splicing isoforms for PTPRC

11 Ensembl transcripts including schematic representations:

ENST00000271610 ENST00000367372 ENST00000367379 ENST00000367366 ENST00000391970 ENST00000367365

ENST00000367364 ENST00000367376 ENST00000352140 ENST00000348564 ENST00000367367

(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

PTPRC expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for PTPRC

¹ / ² / ³

12 probe-sets matching PTPRC 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
40520_g_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.05	Y00638	1.00	1.00	1.00	1
40519_at²^{, 3}	U95-A	1	1.00	1.00	0.99	0.77	Y00638	1.00	1.00	1.00	1
40518_at²^{, 3}	U95-A	1	1.00	1.00	0.98	1.21	Y00062	1.00	0.90	0.95	1
58587_at²^{, 3}	U95-C	1	1.00	1.00	0.15	0.20	AA280209	0.60	1.00	0.82	1
212587_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI809341	0.60	1.00	0.82	1
207238_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_002838	0.60	1.00	0.82	1
212588_at²^{, 3}	U133-A	1	1.00	1.00	--	--	Y00062	1.00	0.90	0.95	1
212587_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
207238_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1552480_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1569830_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
212588_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks PTPRC for binary patterns associated with the probe-sets selected above

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Data from

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

CGAP SAGE TAG: TTAAATCCCA

SOURCE GeneReport for Unigene cluster: Hs.654514
Expression variation in blood from EXPOLDB for PTPRC

(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 PTPRC gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PTPRC¹	--	protein tyrosine phosphatase, receptor type, C	79.59(n) 71.92(a)	490255 XM_547374.2 XP_547374.2
chimpanzee (Pan troglodytes)	PTPRC¹	--	protein tyrosine phosphatase, receptor type, C	99.03(n) 98.47(a)	457607 XM_001141776.1 XP_001141776.1
cow (Bos taurus)	PTPRC¹	--	protein tyrosine phosphatase, receptor type, C	75.02(n) 69.63(a)	407152 XM_599431.3 XP_599431.3
rat (Rattus norvegicus)	Ptprc¹	--	protein tyrosine phosphatase, receptor type, C	73.5(n) 67.52(a)	24699 XM_001062978.1 XP_001062978.1
mouse (Mus musculus)	Ptprc^{1, 5}	1 (74.00 cM)⁵	protein tyrosine phosphatase, receptor type, C^{1, 5}	74.33(n)¹ 70.63(a)¹	19264¹ NM_011210.2¹ NP_035340.2¹ AK054056⁵ AK079399⁵ (see all 58)

About this table Species with no ortholog for PTPRC

ENSEMBL Gene Tree for PTPRC

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

Paralogs for PTPRC gene

PTPRA² PTPRE²

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

10/652 NCBI SNPs in PTPRC are shown (see all 652 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 262)

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
				--	--	--		--	--			--
	rs1932437^1,2	A,C,F,H	196993243(-)	`CATGAT/GAAGCT`	3	--	ng3¹		11	NS EU EA WA NA	704
	rs12136658^1,2	A,C,F,H	196958218(+)	`CATCAT/ATCAAC`	3	Q/H	mis¹		7	EA WA EU	698
	rs4915154^1,2	C,F,H	196938276(+)	`CGAACA/GCCTCA`	3	T/A	mis¹ int¹		8	EU EA WA	838
	rs16843549^1,2	C,F,H	196873751(+)	`AAAAGT/GTTGTA`	4	--	ng5¹		11	NA EU EA WA	958
	rs6696162^1,2	C,F,H	196948801(+)	`TTTTAC/TCCTCT`	3	T/I	mis¹		4	EU EA WA	406
--	rs2274364^1,2	C,F,H	196874577(+)	`TAATTT/AAAAAA`	4	--	ng5¹		4	EU EA WA	404
	rs2298872^1,2	C,F,H	196991865(+)	`CCACGA/CGTGGC`	3	S/R	mis¹ ese³		9	EA EU WA	2148
	rs3754094^1,2	C,F,H	196873951(+)	`CCAATT/CCATCT`	4	--	ng5¹		7	NA EU EA WA	552
	rs16843719^1,2	F,H	196928518(+)	`ACAGAT/CTTGCA`	4	--	ut3¹ int¹ ese³		7	NA EU EA WA	560
	rs12141286^1,2	A,H	196873298(+)	`CTTTTC/AGAGTA`	4	--	ng5¹		4	EU EA WA	418

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HapMap Linkage Disequilibrium images for PTPRC (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.)
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OMIM: 151460 disorders: 126200 609532 608971

UniProtKB/Swiss-Prot: CD45_HUMAN, P08575

Defects in PTPRC are a cause of severe combined immunodeficiency autosomal recessive

T-cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+)SCID) [MIM:608971]. SCID refers to

a genetically and clinically heterogeneous group of rare congenital disorders characterized by

impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody

levels. Patients with SCID present in infancy with recurrent, persistent infections by

opportunistic organisms. The common characteristic of all types of SCID is absence of

T-cell-mediated cellular immunity due to a defect in T-cell development

Genetic variations in PTPRC are involved in multiple sclerosis susceptibility (MS)

[MIM:126200]. MS is a neurodegenerative disorder characterized by the gradual accumulation of

focal plaques of demyelination particularly in the periventricular areas of the brain. Peripheral

nerves are not affected. Onset usually in third or fourth decade with intermittent progression

over an extended period. The cause is still uncertain

10/93 Novoseek disease relationships for PTPRC gene (see all 93 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
anaplastic large cell lymphoma	72.01	2	2042431 (1), 1313610 (1)
lymphoma large cell	71.51	2	1335094 (1), 9870851 (1)
lymphoma	67.76	55	1376944 (4), 1330287 (4), 15583810 (3), 11378582 (3) (see all 29)
sarcoma granulocytic	60.59	4	8037168 (2), 17700206 (1), 2106752 (1)
ewings sarcoma	51.92	5	11190795 (1), 1669003 (1), 7503935 (1), 1497115 (1) (see all 5)
primitive neuroectodermal tumor pnet	50.58	1	12783138 (1)
tumors	49.90	97	8656013 (2), 15945093 (2), 17425998 (2), 8127145 (2) (see all 79)
lymphoma non-hodgkins	49.66	4	1829834 (1), 1845482 (1), 1669003 (1)
lymphoma lymphoblastic	48.00	3	11190795 (1), 7503935 (1)
lymphoma b-cell	47.34	1	10901591 (1)

About this table

1 PharmGKB disease relationship for PTPRC gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	PD FA GN	12086872 12704389 12730115

About this table

Human Gene Mutation Database: PTPRC
Genetic Association Database: PTPRC
Human Genome Epidemiology Navigator: PTPRC (27 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

10/726 PubMed articles for PTPRC gene (see all 726 ):

A point mutation in PTPRC is associated with the development of multiple sclerosis. (PubMed id 11101853)^{1, 3, 4, 6} Jacobsen M.... Hemmer B. (2000)
A deletion in the gene encoding the CD45 antigen in a patient with SCID. (PubMed id 11145714)^{1, 3, 4} Tchilian E.Z....Beverley P.C.L. (2001)
PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients. (PubMed id 12028593)^{1, 3, 6} Miterski B....Epplen J.T. (2002)
PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients. (PubMed id 11528386)^{1, 3, 6} Barcellos L.F....Oksenberg J.R. (2001)
Disease associations and altered immune function in CD45 138G variant carriers. (PubMed id 15333587)^{1, 3, 6} Boxall S....Tchilian E.Z. (2004)
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers. (PubMed id 12864992)^{1, 3, 6} Gomez-Lira M....Giordano M. (2003)
Protein tyrosine phosphatase receptor-type C exon 4 gene mutation distribution in an Italian multiple sclerosis population. (PubMed id 12147336)^{1, 3, 6} Ballerini C....Vergelli M. (2002)
The 77C->G mutation in the human CD45 (PTPRC) gene leads to increased intensity of TCR signaling in T cell lines from healthy individuals and patients with multiple sclerosis. (PubMed id 16393978)^{1, 3, 6} Do H.T....Schwinzer R. (2006)
[Prevalence of C77G polymorphism in exon 4 of the CD45 gene in the Spanish population] (PubMed id 15960938)^{1, 3, 6} Gil J....Fernandez-Cruz E. (2005)
C77G mutation in protein tyrosine phosphatase CD45 gene and autoimmune hepatitis. (PubMed id 15963758)^{1, 3, 6} Esteghamat F....Zali M.R. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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)
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Entrez Gene: 5788	HGNC: 9666	AceView: PTPRC	Ensembl:ENSG00000081237	euGenes: HUgn5788
ECgene: PTPRC	H-InvDB: PTPRC

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for PTPRC	Genetics and Cytogenetics in Oncology and Haematology
PTPRCbase	http://bioinf.uta.fi/PTPRCbase/
Wikipedia	http://en.wikipedia.org/wiki/CD45

Licensable Technologies for PTPRC
(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,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for PTPRC:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for PTPRC-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for PTPRC		Antibodies for PTPRC
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for PTPRC		Small molecules for PTPRC
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (PTPRC)
	Antibodies (PTPRC)
	Chimera RNAi (PTPRC)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for PTPRC (CD45)

	Recombinant Proteins (CD45RA + CD8, CD3 + CD4 + CD45, CD45RO, CD45RB, CD45RA + CD4, CD45, CD45RA + CD3, CD3 + CD8 + CD45, CD45RC, CD45.2, CD45.1, CD3 + CD16 + CD56 + CD45, CD3 + CD19 + CD45, CD4 + CD45RO, CD45R, CD34 + CD45, CD45RA, CD45 + CD14)
	Antibodies (CD45RA + CD8, CD3 + CD4 + CD45, CD45RO, CD45RB, CD45RA + CD4, CD45, CD45RA + CD3, CD3 + CD8 + CD45, CD45RC, CD45.2, CD45.1, CD3 + CD16 + CD56 + CD45, CD3 + CD19 + CD45, CD4 + CD45RO, CD45R, CD34 + CD45, CD45RA, CD45 + CD14)

Search OriGene for PTPRC

Search Tocris compounds for PTPRC

	Assays/Drugs/Proteins for PTPRC
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for PTPRC

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PTPRC Gene

protein-coding GIFtS: 74

Aliases &
Descriptions
for PTPRC

Summaries
for PTPRC

Genomic Location
for PTPRC

Proteins
for PTPRC

Protein Domains/
Families
for PTPRC

Gene Function
for PTPRC

Pathways & Interactions
for PTPRC

Drugs & Compounds
for PTPRC

Transcripts
for PTPRC

Expression
for PTPRC

Orthologs
for PTPRC

Paralogs
for PTPRC

SNPs/Variants
for PTPRC

Disorders & Mutations
for PTPRC

Medical News
for PTPRC

Publications
for PTPRC

Search for PTPRC

Genome Databases showing PTPRC

Other Databases showing PTPRC

Specialized Databases showing PTPRC

Licensable Technologies
for PTPRC

Services
for PTPRC

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

PTPRC Gene

protein-coding GIFtS: 74

Aliases & Descriptionsfor PTPRC

Summariesfor PTPRC

Genomic Locationfor PTPRC

Proteinsfor PTPRC

Protein Domains/Familiesfor PTPRC

Gene Functionfor PTPRC

Pathways & Interactionsfor PTPRC

Drugs & Compoundsfor PTPRC

Transcriptsfor PTPRC

Expression for PTPRC

Orthologsfor PTPRC

Paralogsfor PTPRC

SNPs/Variantsfor PTPRC

Disorders & Mutationsfor PTPRC

Medical Newsfor PTPRC

Publicationsfor PTPRC

Search for PTPRC

Genome Databases showing PTPRC

Other Databases showing PTPRC

Specialized Databases showing PTPRC

Licensable Technologiesfor PTPRC

Servicesfor PTPRC

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 PTPRC

Summaries
for PTPRC

Genomic Location
for PTPRC

Proteins
for PTPRC

Protein Domains/
Families
for PTPRC

Gene Function
for PTPRC

Pathways & Interactions
for PTPRC

Drugs & Compounds
for PTPRC

Transcripts
for PTPRC

Expression
for PTPRC

Orthologs
for PTPRC

Paralogs
for PTPRC

SNPs/Variants
for PTPRC

Disorders & Mutations
for PTPRC

Medical News
for PTPRC

Publications
for PTPRC

Licensable Technologies
for PTPRC

Services
for PTPRC