Endoplasmic Reticulum Aminopeptidase 2

Alternative Names

ERAP2
Leukocyte-Derived Arginine Aminopeptidase
LRAP

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Length

43,778 bases

No. of Exons

No. of isoforms

Protein Name

Endoplasmic reticulum aminopeptidase 2

Molecular Mass

110462 Da

Amino Acid Count

960

Genomic Location

chr5:96,875,938-96,919,715

Gene Map Locus

5q15

Description

This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_022350.4:c.1040C>T	Lebanon	NC_000005.10:g.96892368C>T		Uncertain Significance	Familial Mediterranean Fever	NG_051092.1:g.21430C>T; NM_022350.4:c.1040C>T; NP_071745.1:p.Thr347Met	75263594

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=erap2

Contributors

Sayeeda Hana: 13.02.2021

Edit History

Sayeeda Hana: 13.02.2021