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GIMAP6 GTPase, IMAP family member 6 [ Homo sapiens (human) ]

Gene ID: 474344, updated on 5-Mar-2024

Summary

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Official Symbol
GIMAP6provided by HGNC
Official Full Name
GTPase, IMAP family member 6provided by HGNC
Primary source
HGNC:HGNC:21918
See related
Ensembl:ENSG00000133561 MIM:616960; AllianceGenome:HGNC:21918
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IAN2; IAN6; IAN-2; IAN-6
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 in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011]
Expression
Broad expression in spleen (RPKM 29.7), lymph node (RPKM 22.3) and 23 other tissues See more
Orthologs
all
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Genomic context

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See GIMAP6 in Genome Data Viewer
Location:
7q36.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (150625375..150632385, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (151798261..151805271, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150322463..150329473, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 2A pseudogene 2 Neighboring gene TRPC6 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18781 Neighboring gene MPRA-validated peak6843 silencer Neighboring gene MPRA-validated peak6844 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26838 Neighboring gene uncharacterized LOC124901774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26840 Neighboring gene eukaryotic translation initiation factor 2A pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26841 Neighboring gene GTPase, IMAP family member 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A human case of GIMAP6 deficiency: a novel primary immune deficiency. Shadur B, et al. Eur J Hum Genet, 2021 Apr. PMID 33328581, Free PMC Article
  2. Functional and biochemical characterization of a T cell-associated anti-apoptotic protein, GIMAP6. Ho CH, et al. J Biol Chem, 2017 Jun 2. PMID 28381553, Free PMC Article
  3. Dysregulation of GIMAP genes in non-small cell lung cancer. Shiao YM, et al. Lung Cancer, 2008 Dec. PMID 18462827
  4. GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans. Yao Y, et al. J Exp Med, 2022 Jun 6. PMID 35551368, Free PMC Article
  5. Dysregulation of GTPase IMAP family members in hepatocellular cancer. Huang Z, et al. Mol Med Rep, 2016 Nov. PMID 27667392, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Investigation and verification of GIMAP6 as a robust biomarker for prognosis and tumor immunity in lung adenocarcinoma.
    Title: Investigation and verification of GIMAP6 as a robust biomarker for prognosis and tumor immunity in lung adenocarcinoma.
  2. GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans.
    Title: GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans.
  3. A human case of GIMAP6 deficiency: a novel primary immune deficiency.
    Title: A human case of GIMAP6 deficiency: a novel primary immune deficiency.
  4. GIMAP6 plays a role in modulating immune function and that it does this by controlling cell death and the activation of T cells.
    Title: Functional and biochemical characterization of a T cell-associated anti-apoptotic protein, GIMAP6.
  5. These data,demonstrating the downregulation of the mRNA and protein expression levels of GIMAP5 and GIMAP6 in the tumor tissues and blood of patients with Hepatocellular carcinoma (HCC) , suggested the involvement of GIMAP5 and GIMAP6 in the pathogenesis of HCC, and indicate their possible use as diagnostic markers for HCC.
    Title: Dysregulation of GTPase IMAP family members in hepatocellular cancer.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of GTPase, IMAP family member 6 (GIMAP6) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22690, DKFZp686A01175

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
GTPase IMAP family member 6
Names
immune associated nucleotide 2
immune associated nucleotide 6
immune-associated nucleotide-binding protein 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001244071.2 → NP_001231000.1  GTPase IMAP family member 6 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC060760, DA582331
    Consensus CDS
    CCDS59087.1
    UniProtKB/Swiss-Prot
    Q6P9H5
    Related
    ENSP00000418304.1, ENST00000493969.2

  2. NM_001244072.2 → NP_001231001.1  GTPase IMAP family member 6 isoform 2

    See identical proteins and their annotated locations for NP_001231001.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
    Source sequence(s)
    AK294989, BC060760, DC384795
    Consensus CDS
    CCDS75676.1
    UniProtKB/TrEMBL
    B4DH95, Q8TES8
    Related
    ENSP00000479580.1, ENST00000618759.4
    Conserved Domains (1) summary
    cd01852
    Location:111 → 311
    AIG1; AvrRpt2-Induced Gene 1 (AIG1)

  3. NM_024711.6 → NP_078987.3  GTPase IMAP family member 6 isoform 1

    See identical proteins and their annotated locations for NP_078987.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    BC060760, CR749355
    Consensus CDS
    CCDS34778.1
    UniProtKB/Swiss-Prot
    C9J7B6, D3DWZ4, Q5ZPR6, Q6P9H5, Q9H612
    UniProtKB/TrEMBL
    A0A090N7V4, B2RBH7, B4DU05
    Related
    ENSP00000330374.5, ENST00000328902.9
    Conserved Domains (1) summary
    cd01852
    Location:41 → 241
    AIG1; AvrRpt2-Induced Gene 1 (AIG1)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    150625375..150632385 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    151798261..151805271 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001007224.1: Suppressed sequence

    Description
    NM_001007224.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P9H5.1 GenPept UniProtKB/Swiss-Prot:Q6P9H5

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