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	HGNC	UniGene	Nucleotide	OMIM		UCSC

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FLASH GENE

Symbol

PTPRC

contributors: mct - updated : 12-01-2016

HGNC name	protein tyrosine phosphatase, receptor type, C
HGNC id	9666

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCIDNK

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       abnormal splicing in hemophagocytic lymphohitiocytosis in association with perforin mutation tumoral somatic mutation     gain of function in T-cell acute lymphoblastic leukemia

Susceptibility

to multiple sclerosis to Graves disease or hepatitis B infection to severe outcome in hepatitis C

Variant & Polymorphism SNP	138 G allele protecting against Graves disease or hepatitis B infection
	allele C77G associated to severe outcome in hepatitis C
	a SNP is associated with the response to anti-TNF therapy and an rheumatoid arthritis risk allele

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer hemopathy   antigenic marker with which to identify undifferentiated hematopoietic tumors

ANIMAL & CELL MODELS

bone marrow derived macrophages from Ptprc-deficient mice exhibit abnormal cell morphology and defective motility