Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55340
Gene name	GTPase, IMAP family member 5
Gene symbol	GIMAP5
Synonyms (NCBI Gene)	HIMAP3IAN-5IAN4IAN4L1IAN5IMAP3IRODNCPH2
Chromosome	7
Chromosome location	7q36.1
Summary	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 antiap

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miRTarBase ID	miRNA	Experiments
MIRT1018968	hsa-miR-1266	CLIP-seq
MIRT1018969	hsa-miR-1827	CLIP-seq
MIRT1018970	hsa-miR-198	CLIP-seq
MIRT1018971	hsa-miR-216a	CLIP-seq
MIRT1018972	hsa-miR-302a	CLIP-seq
MIRT1018973	hsa-miR-302b	CLIP-seq
MIRT1018974	hsa-miR-302c	CLIP-seq
MIRT1018975	hsa-miR-302d	CLIP-seq
MIRT1018976	hsa-miR-302e	CLIP-seq
MIRT1018977	hsa-miR-3664-3p	CLIP-seq
MIRT1018978	hsa-miR-372	CLIP-seq
MIRT1018979	hsa-miR-373	CLIP-seq
MIRT1018980	hsa-miR-4297	CLIP-seq
MIRT1018981	hsa-miR-4518	CLIP-seq
MIRT1018982	hsa-miR-4649-3p	CLIP-seq
MIRT1018983	hsa-miR-4685-5p	CLIP-seq
MIRT1018984	hsa-miR-4756-3p	CLIP-seq
MIRT1018985	hsa-miR-520a-3p	CLIP-seq
MIRT1018986	hsa-miR-520a-5p	CLIP-seq
MIRT1018987	hsa-miR-520b	CLIP-seq
MIRT1018988	hsa-miR-520c-3p	CLIP-seq
MIRT1018989	hsa-miR-520d-3p	CLIP-seq
MIRT1018990	hsa-miR-520e	CLIP-seq
MIRT1018991	hsa-miR-525-5p	CLIP-seq
MIRT2001695	hsa-miR-214	CLIP-seq
MIRT2001696	hsa-miR-3120-3p	CLIP-seq
MIRT2001697	hsa-miR-3619-5p	CLIP-seq
MIRT2001698	hsa-miR-432	CLIP-seq
MIRT2001699	hsa-miR-4514	CLIP-seq
MIRT2001700	hsa-miR-4690-5p	CLIP-seq
MIRT2001701	hsa-miR-4692	CLIP-seq
MIRT2001702	hsa-miR-761	CLIP-seq
MIRT2001703	hsa-miR-940	CLIP-seq
MIRT2234760	hsa-miR-3691-3p	CLIP-seq
MIRT2450265	hsa-miR-3154	CLIP-seq
MIRT2450266	hsa-miR-3179	CLIP-seq
MIRT2450267	hsa-miR-3185	CLIP-seq
MIRT2450268	hsa-miR-4300	CLIP-seq
MIRT2450269	hsa-miR-558	CLIP-seq
MIRT2450270	hsa-miR-920	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005525	Function	GTP binding	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0032585	Component	Multivesicular body membrane	IEA

MIM	HGNC	e!Ensembl
608086	18005	ENSG00000196329

Q96F15

Protein name

GTPase IMAP family member 5 (Immune-associated nucleotide-binding protein 5) (Immunity-associated nucleotide 4-like 1 protein) (Immunity-associated nucleotide 5 protein) (IAN-5) (hIAN5) (Immunity-associated protein 3)

Protein function

Plays a role in T lymphocyte development and the optimal generation of CD4/CD8 double-positive thymocytes (By similarity). Inhibitor of GSK3A, possibly by sequestering GSK3A in cytoplasmic vesicles and impairing its translocation to the nucleus.

PDB

6Z3E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04548	AIG1	28 → 239	AIG1 family	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with high levels in lymph node and spleen (PubMed:14724691). High expression found in T lymphocytes, including CD4 and CD8-positive T-cells, and monocytes (PubMed:14724691, PubMed:29382851). Very low expression levels

Sequence

MGGFQRGKYGTMAEGRSEDNLSATPPALRIILVGKTGCGKSATGNSILGQPVFESKLRAQ
SVTRTCQVKTGTWNGRKVLVVDTPSIFESQADTQELYKNIGDCYLLSAPGPHVLLLVIQL
GRFTAQDTVAIRKVKEVFGTGAMRHVVILFTHKEDLGGQALDDYVANTDNCSLKDLVREC
ERRYCAFNNWGSVEEQRQQQAELLAVIERLGREREGSFHSNDLFLDAQLLQRTGAGACQE
DYRQYQAKVEWQVEKHKQELRENESNWAYKALLRVKHLMLLHYEIFVFLLLCSILFFIIF
LFIFHYI

Sequence length

307

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Portal hypertension	Likely pathogenic; Pathogenic	rs1797607693, rs2116581086, rs927435790	RCV001849846 RCV001849847 RCV001849848	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Portal hypertension, noncirrhotic, 2	Likely pathogenic; Pathogenic	rs1797607693, rs2116581086, rs927435790	RCV002282611 RCV002282612 RCV002282613	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allergic sensitization	Allergic Sensitization	BEFREE	25964488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	25964488, 30616774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	17220214, 17641683, 19762377, 25944983, 29382851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	17641683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27667392	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	25944983, 29382851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20644174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20644174		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	17220214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	14747305, 17641683, 19168599, 20644174, 25964488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	25964488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27667392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	17220214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	17220214, 19762377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17220214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	12097339, 17220214, 17641683, 19762377, 25964488, 29382851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14724691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27667392		★★★★★ ★☆☆☆☆ Found in Text Mining only

GIMAP5 (GTPase, IMAP family member 5)