Gene Gene information from NCBI Gene database.
Entrez ID 474344
Gene name GTPase, IMAP family member 6
Gene symbol GIMAP6
Synonyms (NCBI Gene)
IAN-2IAN-6IAN2IAN6
Chromosome 7
Chromosome location 7q36.1
Summary This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role i
miRNA miRNA information provided by mirtarbase database.
85
miRTarBase ID miRNA Experiments Reference
MIRT529951 hsa-miR-5003-5p PAR-CLIP 22012620
MIRT529950 hsa-miR-4691-3p PAR-CLIP 22012620
MIRT529949 hsa-miR-4269 PAR-CLIP 22012620
MIRT529948 hsa-miR-6715b-5p PAR-CLIP 22012620
MIRT529947 hsa-miR-6849-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0005525 Function GTP binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616960 21918 ENSG00000133561
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P9H5
Protein name GTPase IMAP family member 6 (Immunity-associated nucleotide 2 protein) (IAN-2) (hIAN2) (Immunity-associated nucleotide 6 protein) (IAN-6) (hIAN6)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04548 AIG1 41 252 AIG1 family Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in spleen, lymph nodes, lung and placenta. Expressed at moderate level in thymus, kidney, heart and digestive tract. Weakly expressed in other lymphoid tissues. Detected in T-cells. {ECO:0000269|PubMed:15474311, ECO:00
Sequence
Sequence length 292
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Primary Immune Deficiency Likely pathogenic rs767832540 RCV001254928
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 32523132 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27667392 Inhibit
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 32523132 Stimulate
★☆☆☆☆
Found in Text Mining only
Hemoglobinuria Paroxysmal Hemoglobinuria paroxysmal Pubtator 28630090 Associate
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Pubtator 31952466 Associate
★☆☆☆☆
Found in Text Mining only
Immune System Diseases Immune system disease Pubtator 33328581 Associate
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 27667392
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 18462827, 27667392
★☆☆☆☆
Found in Text Mining only
Oral Ulcer Oral Ulcer GWASCAT_DG 30837455
★☆☆☆☆
Found in Text Mining only
Young Syndrome Young syndrome Pubtator 33328581 Associate
★☆☆☆☆
Found in Text Mining only