GIMAP5 (GTPase, IMAP family member 5) - Rat Genome Database

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Gene: GIMAP5 (GTPase, IMAP family member 5) Homo sapiens
Analyze
Symbol: GIMAP5
Name: GTPase, IMAP family member 5
RGD ID: 1349853
HGNC Page HGNC:18005
Description: Predicted to enable GTP binding activity. Predicted to be located in endoplasmic reticulum; lysosomal membrane; and multivesicular body membrane. Implicated in portal hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ11296; GTPase IMAP family member 5; hIAN5; HIMAP3; IAN-5; IAN4; IAN4L1; IAN5; IMAP3; immune associated nucleotide 4 like 1; immune-associated nucleotide-binding protein 5; immunity associated protein 3; immunity-associated nucleotide 4-like 1 protein; immunity-associated nucleotide 5 protein; immunity-associated protein 3; inhibitor of radiation- and OA-induced apoptosis, Irod/Ian5; IROD; NCPH2
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Alliance Genes
More Info more info ...
Related Pseudogenes: GIMAP3P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387150,737,418 - 150,743,646 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7150,722,253 - 150,750,033 (+)EnsemblGRCh38hg38GRCh38
GRCh377150,434,506 - 150,440,734 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,065,384 - 150,071,669 (+)NCBINCBI36Build 36hg18NCBI36
Build 347149,872,098 - 149,878,384NCBI
Celera7144,991,531 - 144,997,796 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,246,520 - 144,252,822 (+)NCBIHuRef
CHM1_17150,442,821 - 150,449,122 (+)NCBICHM1_1
T2T-CHM13v2.07151,910,326 - 151,916,554 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27149,763,721 - 149,770,022 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Lymphopenia in the BB Rat Model of Type 1 Diabetes is Due to a Mutation in a Novel Immune-Associated Nucleotide (Ian)-Related Gene. MacMurray AJ, etal., Genome Res 2002 Jul;12(7):1029-39.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11238997   PMID:11814688   PMID:11964296   PMID:12477932   PMID:12690205   PMID:12925764   PMID:14702039   PMID:14724691   PMID:15474311   PMID:15489334   PMID:16509771   PMID:17220214  
PMID:17369194   PMID:17641683   PMID:19762377   PMID:20190135   PMID:20237496   PMID:20817506   PMID:21832049   PMID:21873635   PMID:22190034   PMID:23098229   PMID:25416956   PMID:25944983  
PMID:27667392   PMID:29382851   PMID:32296183   PMID:34214466   PMID:36484389  


Genomics

Comparative Map Data
GIMAP5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387150,737,418 - 150,743,646 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7150,722,253 - 150,750,033 (+)EnsemblGRCh38hg38GRCh38
GRCh377150,434,506 - 150,440,734 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,065,384 - 150,071,669 (+)NCBINCBI36Build 36hg18NCBI36
Build 347149,872,098 - 149,878,384NCBI
Celera7144,991,531 - 144,997,796 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,246,520 - 144,252,822 (+)NCBIHuRef
CHM1_17150,442,821 - 150,449,122 (+)NCBICHM1_1
T2T-CHM13v2.07151,910,326 - 151,916,554 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27149,763,721 - 149,770,022 (+)NCBI
Gimap5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39648,723,131 - 48,731,134 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl648,723,131 - 48,731,144 (+)EnsemblGRCm39 Ensembl
GRCm38648,746,197 - 48,754,200 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl648,746,197 - 48,754,210 (+)EnsemblGRCm38mm10GRCm38
MGSCv37648,696,196 - 48,704,199 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36648,675,783 - 48,683,786 (+)NCBIMGSCv36mm8
Celera649,257,051 - 49,265,008 (+)NCBICelera
Cytogenetic Map6B2.3NCBI
cM Map623.71NCBI
Gimap5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8479,025,151 - 79,031,917 (+)NCBIGRCr8
mRatBN7.2477,693,417 - 77,701,025 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl477,687,564 - 77,703,086 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx482,902,037 - 82,908,725 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0478,677,516 - 78,684,204 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0477,117,807 - 77,124,495 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0478,377,228 - 78,386,683 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl478,378,144 - 78,385,577 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04143,066,311 - 143,073,003 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4476,836,521 - 76,843,214 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1477,112,650 - 77,119,327 (+)NCBI
Celera472,631,351 - 72,638,043 (+)NCBICelera
Cytogenetic Map4q24NCBI
GIMAP5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26187,152,549 - 187,161,746 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1739,162,808 - 39,172,010 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07142,319,479 - 142,326,035 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17154,471,995 - 154,478,298 (+)NCBIpanpan1.1PanPan1.1panPan2
LOC100687459
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11614,887,308 - 14,895,522 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1615,495,620 - 15,503,788 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01616,602,613 - 16,610,785 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1616,602,557 - 16,610,761 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11614,981,879 - 14,990,048 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01615,563,361 - 15,571,546 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01615,613,881 - 15,622,077 (+)NCBIUU_Cfam_GSD_1.0
GIMAP5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1186,363,443 - 6,371,725 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2186,671,945 - 6,676,690 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in GIMAP5
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GIMAP5, ILE47THR variation Portal hypertension, noncirrhotic, 2 [RCV001548743] Chr7:7q36.1 pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 copy number loss See cases [RCV000054189] Chr7:148256584..152332535 [GRCh38]
Chr7:147953676..152029620 [GRCh37]
Chr7:147584609..151660553 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_001199577.1(GIMAP1-GIMAP5):c.816G>A (p.Val272=) single nucleotide variant Malignant melanoma [RCV000067769] Chr7:150742343 [GRCh38]
Chr7:150439431 [GRCh37]
Chr7:150070364 [NCBI36]
Chr7:7q36.1		 not provided
NM_001199577.1(GIMAP1-GIMAP5):c.1503C>T (p.Phe501=) single nucleotide variant Malignant melanoma [RCV000067770] Chr7:150743030 [GRCh38]
Chr7:150440118 [GRCh37]
Chr7:150071051 [NCBI36]
Chr7:7q36.1		 not provided
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1 copy number loss See cases [RCV000050552] Chr7:150319864..152674271 [GRCh38]
Chr7:150016953..152371356 [GRCh37]
Chr7:149647886..152002289 [NCBI36]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 copy number gain See cases [RCV000135825] Chr7:147345844..153833351 [GRCh38]
Chr7:147042936..153530436 [GRCh37]
Chr7:146673869..153161369 [NCBI36]
Chr7:7q35-36.2		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3		 pathogenic|likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3 copy number gain See cases [RCV000138566] Chr7:150113232..154162779 [GRCh38]
Chr7:149810321..153859864 [GRCh37]
Chr7:149441254..153490797 [NCBI36]
Chr7:7q36.1-36.2		 likely pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3 copy number gain See cases [RCV000139660] Chr7:150275734..153342804 [GRCh38]
Chr7:149972823..153039889 [GRCh37]
Chr7:149603756..152670822 [NCBI36]
Chr7:7q36.1-36.2		 uncertain significance
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4 copy number gain See cases [RCV000511618] Chr7:148189771..150867270 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1(chr7:150176945-150460105)x1 copy number loss See cases [RCV000511427] Chr7:150176945..150460105 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 copy number gain not provided [RCV000747094] Chr7:143711059..152573935 [GRCh37]
Chr7:7q35-36.1		 benign
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 copy number loss not provided [RCV000747115] Chr7:148238976..159126310 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GIMAP5, PRO109LEU variation Portal hypertension, noncirrhotic, 2 [RCV001548745] Chr7:7q36.1 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:150112013-150707556)x3 copy number gain not provided [RCV000847609] Chr7:150112013..150707556 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NC_000007.13:g.(?_150066801)_(150759750_?)del deletion Long QT syndrome [RCV001031491] Chr7:150066801..150759750 [GRCh37]
Chr7:7q36.1		 pathogenic
NM_018384.5(GIMAP5):c.813G>A (p.Ala271=) single nucleotide variant not provided [RCV000956544] Chr7:150742952 [GRCh38]
Chr7:150440040 [GRCh37]
Chr7:7q36.1		 benign
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3		 not provided
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_018384.5(GIMAP5):c.140T>C (p.Ile47Thr) single nucleotide variant Portal hypertension [RCV001849846]|Portal hypertension, noncirrhotic, 2 [RCV002282611] Chr7:150742279 [GRCh38]
Chr7:150439367 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NM_018384.5(GIMAP5):c.326C>T (p.Pro109Leu) single nucleotide variant Portal hypertension [RCV001849848]|Portal hypertension, noncirrhotic, 2 [RCV002282613] Chr7:150742465 [GRCh38]
Chr7:150439553 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
GRCh37/hg19 7q36.1(chr7:150109825-150700159) copy number gain not specified [RCV002053744] Chr7:150109825..150700159 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 copy number gain not provided [RCV001827941] Chr7:148153261..157543640 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1 copy number loss not provided [RCV001832910] Chr7:148695373..159119707 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
NM_018384.5(GIMAP5):c.667C>T (p.Leu223Phe) single nucleotide variant Portal hypertension [RCV001849847]|Portal hypertension, noncirrhotic, 2 [RCV002282612] Chr7:150742806 [GRCh38]
Chr7:150439894 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic
NC_000007.13:g.(?_150324807)_(152373164_?)del deletion not provided [RCV003113606] Chr7:150324807..152373164 [GRCh37]
Chr7:7q36.1		 pathogenic
NC_000007.13:g.(?_150307047)_(152613597_?)del deletion not provided [RCV003113787] Chr7:150307047..152613597 [GRCh37]
Chr7:7q36.1-36.2		 pathogenic
NC_000007.13:g.(?_150324807)_(152373164_?)dup duplication not provided [RCV003113607] Chr7:150324807..152373164 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 copy number gain not provided [RCV002279740] Chr7:146927174..159128556 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1 copy number loss not provided [RCV002279756] Chr7:149062717..159124131 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1 copy number loss not provided [RCV002472413] Chr7:149332630..151498689 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q36.1(chr7:150018908-150591382)x1 copy number loss not provided [RCV002474835] Chr7:150018908..150591382 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_018384.5(GIMAP5):c.532C>T (p.Arg178Trp) single nucleotide variant Inborn genetic diseases [RCV002739376] Chr7:150742671 [GRCh38]
Chr7:150439759 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_018384.5(GIMAP5):c.-162G>A single nucleotide variant Inborn genetic diseases [RCV002678993] Chr7:150737553 [GRCh38]
Chr7:150434641 [GRCh37]
Chr7:7q36.1		 likely benign
NM_018384.5(GIMAP5):c.-110G>A single nucleotide variant Inborn genetic diseases [RCV003210971] Chr7:150737605 [GRCh38]
Chr7:150434693 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_018384.5(GIMAP5):c.-177C>T single nucleotide variant Inborn genetic diseases [RCV003383221] Chr7:150737538 [GRCh38]
Chr7:150434626 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q36.1(chr7:148538593-150967829)x1 copy number loss not provided [RCV003482992] Chr7:148538593..150967829 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1 copy number loss not provided [RCV003482991] Chr7:144940098..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_018384.5(GIMAP5):c.741C>A (p.Ala247=) single nucleotide variant not provided [RCV003423827] Chr7:150742880 [GRCh38]
Chr7:150439968 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:148896264-150963866)x1 copy number loss not specified [RCV003986691] Chr7:148896264..150963866 [GRCh37]
Chr7:7q36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro) single nucleotide variant Portal hypertension [RCV001849525]|Portal hypertension, noncirrhotic, 2 [RCV001548746]|not provided [RCV003434309] Chr7:150742750 [GRCh38]
Chr7:150439838 [GRCh37]
Chr7:7q36.1		 pathogenic|likely pathogenic|likely benign
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 copy number gain See cases [RCV000447776] Chr7:149261179..159075020 [GRCh37]
Chr7:7q36.1-36.3		 pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GIMAP5, LEU223PHE variation Portal hypertension, noncirrhotic, 2 [RCV001548744] Chr7:7q36.1 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3 copy number gain not provided [RCV000847582] Chr7:149968222..152539376 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 copy number loss not provided [RCV001006022] Chr7:145962558..159119707 [GRCh37]
Chr7:7q35-36.3		 pathogenic
NM_018384.5(GIMAP5):c.-28C>G single nucleotide variant Inborn genetic diseases [RCV002901409] Chr7:150737687 [GRCh38]
Chr7:150434775 [GRCh37]
Chr7:7q36.1		 uncertain significance
NM_018384.5(GIMAP5):c.-69G>A single nucleotide variant Inborn genetic diseases [RCV002887273] Chr7:150737646 [GRCh38]
Chr7:150434734 [GRCh37]
Chr7:7q36.1		 uncertain significance
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1		 pathogenic
NM_018384.5(GIMAP5):c.533G>A (p.Arg178Gln) single nucleotide variant Inborn genetic diseases [RCV003344314] Chr7:150742672 [GRCh38]
Chr7:150439760 [GRCh37]
Chr7:7q36.1		 likely benign
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1419
Count of miRNA genes:806
Interacting mature miRNAs:916
Transcripts:ENST00000358647, ENST00000466347, ENST00000469272, ENST00000476324, ENST00000479556, ENST00000493304, ENST00000498181
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH98738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,440,605 - 150,440,684UniSTSGRCh37
Build 367150,071,538 - 150,071,617RGDNCBI36
Celera7144,997,665 - 144,997,744RGD
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7qUniSTS
HuRef7144,252,690 - 144,252,769UniSTS
CRA_TCAGchr7v27149,769,890 - 149,769,969UniSTS
GeneMap99-GB4 RH Map7675.22UniSTS
D7S2911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,440,537 - 150,440,684UniSTSGRCh37
Build 367150,071,470 - 150,071,617RGDNCBI36
Celera7144,997,597 - 144,997,744RGD
Cytogenetic Map7qUniSTS
Cytogenetic Map7q36.1UniSTS
HuRef7144,252,622 - 144,252,769UniSTS
CRA_TCAGchr7v27149,769,822 - 149,769,969UniSTS
IAN4L1_998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,440,044 - 150,440,757UniSTSGRCh37
Build 367150,070,977 - 150,071,690RGDNCBI36
Celera7144,997,104 - 144,997,817RGD
HuRef7144,252,129 - 144,252,842UniSTS
CRA_TCAGchr7v27149,769,329 - 149,770,042UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1996 2350 1105 181 1232 79 2890 1481 1101 177 661 1299 103 1204 1884 1 2
Low 321 631 577 409 348 348 1205 659 2520 194 675 90 63 1 904 3
Below cutoff 8 15 15 214 15 10 8 36 7 22 8

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000358647   ⟹   ENSP00000351473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,737,418 - 150,743,646 (+)Ensembl
RefSeq Acc Id: ENST00000466347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,737,627 - 150,750,033 (+)Ensembl
RefSeq Acc Id: ENST00000469272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,737,652 - 150,740,504 (+)Ensembl
RefSeq Acc Id: ENST00000476324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,737,610 - 150,743,646 (+)Ensembl
RefSeq Acc Id: ENST00000479556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,737,609 - 150,743,615 (+)Ensembl
RefSeq Acc Id: ENST00000493304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,740,235 - 150,742,517 (+)Ensembl
RefSeq Acc Id: ENST00000498181   ⟹   ENSP00000487840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7150,722,253 - 150,743,646 (+)Ensembl
RefSeq Acc Id: NM_018384   ⟹   NP_060854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,737,418 - 150,743,646 (+)NCBI
GRCh377150,434,436 - 150,440,737 (+)ENTREZGENE
Build 367150,065,384 - 150,071,669 (+)NCBI Archive
HuRef7144,246,520 - 144,252,822 (+)ENTREZGENE
CHM1_17150,442,821 - 150,449,122 (+)NCBI
T2T-CHM13v2.07151,910,326 - 151,916,554 (+)NCBI
CRA_TCAGchr7v27149,763,721 - 149,770,022 (+)ENTREZGENE
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_060854   ⟸   NM_018384
- UniProtKB: Q96NE4 (UniProtKB/Swiss-Prot),   Q6IA75 (UniProtKB/Swiss-Prot),   D3DWZ5 (UniProtKB/Swiss-Prot),   Q9NUK9 (UniProtKB/Swiss-Prot),   Q96F15 (UniProtKB/Swiss-Prot),   A0A090N8P9 (UniProtKB/TrEMBL),   A0A0J9YW72 (UniProtKB/TrEMBL),   B4DNE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000487840   ⟸   ENST00000498181
RefSeq Acc Id: ENSP00000351473   ⟸   ENST00000358647
Protein Domains
AIG1-type G

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96F15-F1-model_v2 AlphaFold Q96F15 1-307 view protein structure

Promoters
RGD ID:6805710
Promoter ID:HG_KWN:60257
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_018384,   UC010LPU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,064,411 - 150,065,692 (+)MPROMDB
RGD ID:7212301
Promoter ID:EPDNEW_H11897
Type:initiation region
Name:GIMAP5_2
Description:GTPase, IMAP family member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11895  EPDNEW_H11898  EPDNEW_H11899  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,737,418 - 150,737,478EPDNEW
RGD ID:7212305
Promoter ID:EPDNEW_H11898
Type:initiation region
Name:GIMAP5_3
Description:GTPase, IMAP family member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11895  EPDNEW_H11897  EPDNEW_H11899  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,737,598 - 150,737,658EPDNEW
RGD ID:7212307
Promoter ID:EPDNEW_H11899
Type:initiation region
Name:GIMAP5_4
Description:GTPase, IMAP family member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11895  EPDNEW_H11897  EPDNEW_H11898  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387150,740,231 - 150,740,291EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18005 AgrOrtholog
COSMIC GIMAP5 COSMIC
Ensembl Genes ENSG00000196329 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358647 ENTREZGENE
  ENST00000358647.5 UniProtKB/Swiss-Prot
  ENST00000498181.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196329 GTEx
HGNC ID HGNC:18005 ENTREZGENE
Human Proteome Map GIMAP5 Human Proteome Map
InterPro G_AIG1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GIMA/IAN/Toc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55340 ENTREZGENE
OMIM 608086 OMIM
PANTHER GTPASE IMAP FAMILY MEMBER 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AIG1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29578 PharmGKB
PROSITE G_AIG1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A090N8P9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0J9YW72 ENTREZGENE
  B4DNE2 ENTREZGENE, UniProtKB/TrEMBL
  D3DWZ5 ENTREZGENE
  GIMA5_HUMAN UniProtKB/Swiss-Prot
  Q6IA75 ENTREZGENE
  Q96F15 ENTREZGENE
  Q96NE4 ENTREZGENE
  Q9NUK9 ENTREZGENE
UniProt Secondary A0A0J9YW72 UniProtKB/TrEMBL
  D3DWZ5 UniProtKB/Swiss-Prot
  Q6IA75 UniProtKB/Swiss-Prot
  Q96NE4 UniProtKB/Swiss-Prot
  Q9NUK9 UniProtKB/Swiss-Prot