GIMAP5 Chromosome 7

GTPase, IMAP family member 5

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene. [provided by RefSeq, Dec 2010]

Gene Info

Gene Group

GTPases, IMAP

Locus Type

gene with protein product

Location

7q36.1

Ensembl

ENSG00000196329

Associated Conditions (3)

Portal hypertension

noncirrhotic

Key Variants

RS1797607693

Pathogenic/Likely pathogenic

Portal hypertension, noncirrhotic, 2

Health Risk

RS2116581086

Pathogenic/Likely pathogenic

Portal hypertension, noncirrhotic, 2

Health Risk

RS927435790

Pathogenic/Likely pathogenic

Portal hypertension, noncirrhotic, 2

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1797607693	Health Risk	Pathogenic/Likely pathogenic	Portal hypertension, noncirrhotic, 2
RS2116581086	Health Risk	Pathogenic/Likely pathogenic	Portal hypertension, noncirrhotic, 2
RS927435790	Health Risk	Pathogenic/Likely pathogenic	Portal hypertension, noncirrhotic, 2