GIMAP7

Summary

GIMAP7 (GTPase, IMAP family member 7, HGNC:22404) is a protein-coding gene on chromosome 7q36.1, encoding GTPase IMAP family member 7 (Q8NHV1). The dimer has GTPase activity; the active site contains residues from both subunits.

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.

Source: NCBI Gene 168537 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_153236

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22404
Approved symbol	GIMAP7
Name	GTPase, IMAP family member 7
Location	7q36.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC27027, IAN7
Ensembl gene	ENSG00000179144
Ensembl biotype	protein_coding
OMIM	616961
Entrez	168537

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000313543, ENST00000955193, ENST00000955194

RefSeq mRNA: 1 — MANE Select: NM_153236 NM_153236

CCDS: CCDS5903

Canonical transcript exons

ENST00000313543 — 2 exons

Exon	Start	End
ENSE00001251494	150514872	150514945
ENSE00001251501	150519934	150521073

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 98.49.

FANTOM5 (CAGE): breadth broad, TPM avg 23.8990 / max 1972.2974, expressed in 515 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
81952	23.8990	515

Top tissues by expression

259 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.49	gold quality
lymph node	UBERON:0000029	98.18	gold quality
leukocyte	CL:0000738	97.71	gold quality
monocyte	CL:0000576	97.59	gold quality
superficial temporal artery	UBERON:0001614	96.95	gold quality
vermiform appendix	UBERON:0001154	96.91	gold quality
spleen	UBERON:0002106	96.91	gold quality
pericardium	UBERON:0002407	96.63	gold quality
urethra	UBERON:0000057	96.54	gold quality
tendon of biceps brachii	UBERON:0008188	95.64	gold quality
right lung	UBERON:0002167	95.62	gold quality
caecum	UBERON:0001153	95.37	gold quality
layer of synovial tissue	UBERON:0007616	95.29	gold quality
parietal pleura	UBERON:0002400	94.95	gold quality
synovial joint	UBERON:0002217	94.84	gold quality
lower lobe of lung	UBERON:0008949	94.69	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.49	gold quality
blood	UBERON:0000178	94.09	gold quality
epithelium of nasopharynx	UBERON:0001951	94.07	gold quality
nasopharynx	UBERON:0001728	94.06	gold quality
thymus	UBERON:0002370	93.81	gold quality
visceral pleura	UBERON:0002401	93.80	gold quality
smooth muscle tissue	UBERON:0001135	93.65	gold quality
left ventricle myocardium	UBERON:0006566	93.62	gold quality
apex of heart	UBERON:0002098	93.22	gold quality
penis	UBERON:0000989	93.12	gold quality
subcutaneous adipose tissue	UBERON:0002190	93.04	gold quality
vena cava	UBERON:0004087	92.89	gold quality
lung	UBERON:0002048	92.70	gold quality
upper lobe of lung	UBERON:0008948	92.48	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 21.

Experiment	Marker?	Max mean expression
E-GEOD-106540	yes	1128.52
E-GEOD-134144	yes	1028.84
E-MTAB-9467	yes	896.30
E-CURD-77	yes	844.45
E-HCAD-1	yes	107.58
E-CURD-122	yes	78.64
E-HCAD-8	yes	77.91
E-MTAB-10287	yes	75.47
E-HCAD-11	yes	50.27
E-CURD-88	yes	49.40
E-GEOD-135922	yes	38.84
E-HCAD-10	yes	30.47
E-MTAB-6701	yes	29.79
E-MTAB-8410	yes	26.12
E-CURD-46	yes	25.60

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting GIMAP7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-4528	99.18	69.77	1936

Literature-anchored findings (GeneRIF, showing 3)

• The crystal structure of GTP-bound GIMAP7 shows a homodimer assembled via the G domains, with the helical extensions protruding in opposite directions. (PMID:23454188)
• Identification of GIMAP7 and Rabl3 as Putative Biomarkers for Oral Squamous Cell Carcinoma Through Comparative Proteomic Approach. (PMID:31748878)
• GIMAP7 induces oxidative stress and apoptosis of ovarian granulosa cells in polycystic ovary syndrome by inhibiting sonic hedgehog signalling pathway. (PMID:36581994)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gimap7	ENSMUSG00000043931
rattus_norvegicus	Gimap7	ENSRNOG00000038740

Paralogs (7): GIMAP2 (ENSG00000106560), GIMAP6 (ENSG00000133561), GIMAP4 (ENSG00000133574), GIMAP8 (ENSG00000171115), GIMAP5 (ENSG00000196329), GIMAP1 (ENSG00000213203), GIMD1 (ENSG00000250298)

Protein

Protein identifiers

GTPase IMAP family member 7 — Q8NHV1 (reviewed: Q8NHV1)

Alternative names: Immunity-associated nucleotide 7 protein

All UniProt accessions (2): Q8NHV1, A0A090N8P8

UniProt curated annotations — full annotation on UniProt →

Function. The dimer has GTPase activity; the active site contains residues from both subunits.

Subunit / interactions. Monomer in the presence of bound GDP and in the absence of bound nucleotide. Homodimer in the presence of bound GTP. Heterodimer with GIMAP2.

Subcellular location. Lipid droplet. Cytoplasm. Endoplasmic reticulum. Golgi apparatus.

Tissue specificity. Most abundantly expressed in spleen, lymph nodes, and fetal kidney, but also present in the heart and the small intestine. Lower expression levels are found in lung, kidney, liver, and thyroid, salivary, and mammary glands. Also detected in the thymus. Detected in T-cells.

Similarity. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily.

RefSeq proteins (1): NP_694968* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006703	G_AIG1	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR045058	GIMA/IAN/Toc	Family

Pfam: PF04548

UniProt features (35 total): helix 14, strand 6, region of interest 5, binding site 4, mutagenesis site 2, chain 1, domain 1, site 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3ZJC	X-RAY DIFFRACTION	3.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NHV1-F1	92.77	0.86

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 103 (important for catalytic activity)

Ligand- & substrate-binding residues (4): 169; 17–23; 37; 133–135

Mutagenesis-validated functional residues (2):

Position	Phenotype
103	abolishes gtpase activity. no effect on gtp binding and on dimerization.
136	impairs dimerization and abolishes gtpase activity. no effect on gtp binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 158 (showing top): GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, WANG_RESPONSE_TO_BEXAROTENE_DN, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, LEE_EARLY_T_LYMPHOCYTE_DN, GOBP_GTP_METABOLIC_PROCESS, ACEVEDO_LIVER_CANCER_UP, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOMF_GTPASE_ACTIVITY, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_PROTEIN_HOMODIMERIZATION_ACTIVITY, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, SANA_TNF_SIGNALING_DN

GO Biological Process (1): GTP metabolic process (GO:0046039)

GO Molecular Function (6): GTPase activity (GO:0003924), GTP binding (GO:0005525), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), nucleotide binding (GO:0000166), protein binding (GO:0005515)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), lipid droplet (GO:0005811), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
purine ribonucleotide metabolic process	1
purine ribonucleoside triphosphate metabolic process	1
ribonucleoside triphosphate phosphatase activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
protein binding	1
identical protein binding	1
protein dimerization activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1590 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GIMAP7	AIG1	Q9NVV5	559
GIMAP7	SDR39U1	Q9NRG7	558
GIMAP7	OR13C5	Q8NGS8	506
GIMAP7	ZNF775	Q96BV0	483
GIMAP7	GIMAP8	Q8ND71	469
GIMAP7	GIMAP2	Q9UG22	439
GIMAP7	GIMAP6	Q6P9H5	436
GIMAP7	TMEM204	Q9BSN7	422
GIMAP7	RPS4X	P12631	417
GIMAP7	MTHFD1	P11586	392
GIMAP7	GRB2	P29354	390
GIMAP7	TMEM176B	Q3YBM2	355
GIMAP7	C2CD4B	A6NLJ0	337
GIMAP7	C7orf33	Q8WU49	322
GIMAP7	SASH3	O75995	315

IntAct

5 interactions, top by confidence:

A	B	Type	Score
GIMAP7	GIMAP7	psi-mi:“MI:0407”(direct interaction)	0.560
GIMAP7	GIMAP2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (1): GIMAP7 (Affinity Capture-MS)

ESM2 similar proteins: A1E2I4, A7VK00, B0BMZ3, E9PW74, F4HT21, G3MZQ6, G3X987, O81025, P09922, P0DJR0, P18588, P18589, P18590, P20591, P27473, P32455, P33237, P54120, P79135, Q28379, Q4ADG6, Q4ADG7, Q4ADG8, Q4KLG2, Q5D1D6, Q5R5G3, Q5RBE1, Q75N62, Q8BV66, Q8K3K9, Q8N8V2, Q8ND71, Q8NHV1, Q8TCB0, Q99JY3, Q9BDB7, Q9C8U2, Q9C8U5, Q9C8U6, Q9C8U7

Diamond homologs: A5PKB7, F4HT21, G3X987, O23680, O81025, P54120, P70224, Q41009, Q4KLG2, Q5FVN6, Q6P9H5, Q75N62, Q8BWF2, Q8K349, Q8K3K9, Q8K3L6, Q8ND71, Q8NHV1, Q8WWP7, Q96F15, Q99JY3, Q99MI6, Q9C8U2, Q9C8V0, Q9C8V2, Q9NUV9, Q9T0F2, Q9T0F3, Q9T0F4, Q9UG22, E9PW74, Q9C8U5, Q9C8U6, Q9C8U7, Q9C8U8, Q9LVT3, O81283, C0HJV2, G3MZQ6, O81865

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

61 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

86 predictions. Top by Δscore:

Variant	Effect	Δscore
7:150519930:TAAG:T	acceptor_loss	1.0000
7:150519932:A:AG	acceptor_loss	1.0000
7:150519932:A:G	acceptor_gain	1.0000
7:150514942:GAAG:G	donor_gain	0.9900
7:150514944:AGGTG:A	donor_loss	0.9900
7:150514945:GGT:G	donor_loss	0.9900
7:150514946:GTG:G	donor_loss	0.9900
7:150514947:T:G	donor_loss	0.9900
7:150519918:T:G	acceptor_gain	0.9900
7:150519931:A:AG	acceptor_gain	0.9900
7:150519931:AAG:A	acceptor_gain	0.9900
7:150519933:G:GG	acceptor_gain	0.9900
7:150519933:GGT:G	acceptor_gain	0.9900
7:150519917:A:AG	acceptor_gain	0.9800
7:150519933:GGTC:G	acceptor_gain	0.9800
7:150519931:AAGGT:A	acceptor_gain	0.9700
7:150514946:G:GG	donor_gain	0.9600
7:150519930:TAAGG:T	acceptor_gain	0.9600
7:150519932:AG:A	acceptor_gain	0.9600
7:150519933:GG:G	acceptor_gain	0.9600
7:150519929:TTAAG:T	acceptor_gain	0.9500
7:150519932:AGG:A	acceptor_gain	0.9500
7:150519933:G:C	acceptor_gain	0.9500
7:150519928:CTTAA:C	acceptor_gain	0.8900
7:150519933:GGTCT:G	acceptor_gain	0.8900
7:150514948:GA:G	donor_loss	0.7400
7:150514943:A:T	donor_gain	0.6300
7:150514944:AG:A	donor_gain	0.6300
7:150514945:GG:G	donor_gain	0.6300
7:150517364:C:CG	donor_gain	0.5800

AlphaMissense

2009 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:150520036:A:T	K21I	0.979
7:150520074:T:C	F34L	0.974
7:150520076:T:A	F34L	0.974
7:150520076:T:G	F34L	0.974
7:150520035:A:C	K21Q	0.971
7:150520037:A:C	K21N	0.964
7:150520037:A:T	K21N	0.964
7:150520036:A:C	K21T	0.963
7:150520163:C:A	D63E	0.962
7:150520163:C:G	D63E	0.962
7:150520329:T:C	F119L	0.958
7:150520331:T:A	F119L	0.958
7:150520331:T:G	F119L	0.958
7:150520038:A:C	S22R	0.957
7:150520040:T:A	S22R	0.957
7:150520040:T:G	S22R	0.957
7:150520365:T:C	F131L	0.957
7:150520367:C:A	F131L	0.957
7:150520367:C:G	F131L	0.957
7:150520254:G:C	A94P	0.956
7:150520407:T:C	F145L	0.950
7:150520409:C:A	F145L	0.950
7:150520409:C:G	F145L	0.950
7:150520035:A:G	K21E	0.949
7:150520176:T:C	F68L	0.949
7:150520178:T:A	F68L	0.949
7:150520178:T:G	F68L	0.949
7:150520161:G:C	D63H	0.945
7:150520018:G:A	G15E	0.942
7:150520017:G:T	G15W	0.941

dbSNP variants (sampled 300 via entrez): RS1000167612 (7:150517479 C>A), RS1000538770 (7:150515847 G>A,C), RS1001017477 (7:150513639 G>A,C), RS1001456165 (7:150517946 A>G), RS1002356497 (7:150516514 C>G,T), RS1003016901 (7:150518877 C>A), RS1003332918 (7:150517586 A>G), RS1003624096 (7:150515349 T>G), RS1003916212 (7:150515085 AGG>A), RS1004246262 (7:150516868 A>G), RS1004635993 (7:150521459 G>T), RS1005114680 (7:150516600 T>G), RS1005314247 (7:150515118 T>A), RS1005448538 (7:150515436 T>A), RS1007215128 (7:150518264 T>C)

Disease associations

OMIM: gene MIM:616961 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST004351_12	Bone ultrasound measurement (broadband ultrasound attenuation)	1.000000e-07
GCST004632_59	Lymphocyte percentage of white cells	5.000000e-10
GCST007446_20	vWF levels	3.000000e-08
GCST007446_27	vWF levels	2.000000e-08
GCST007446_3	vWF levels	6.000000e-08
GCST007446_62	vWF levels	7.000000e-09
GCST010050_6	Adiponectin levels	1.000000e-14
GCST90002385_154	High light scatter reticulocyte count	4.000000e-09
GCST90002388_408	Lymphocyte count	5.000000e-19
GCST90002389_164	Lymphocyte percentage of white cells	6.000000e-20
GCST90002399_188	Neutrophil percentage of white cells	2.000000e-24

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004514	bone quantitative ultrasound measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004502	adiponectin measurement
EFO:0007986	reticulocyte count
EFO:0004587	lymphocyte count
EFO:0007990	neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Nickel	increases expression	1
Phenobarbital	decreases expression	1
Dronabinol	increases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.