TMBIM1 (transmembrane BAX inhibitor motif containing 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: TMBIM1 (transmembrane BAX inhibitor motif containing 1) Homo sapiens
Analyze
Symbol: TMBIM1
Name: transmembrane BAX inhibitor motif containing 1
RGD ID: 1605964
HGNC Page HGNC:23410
Description: Enables death receptor binding activity. Involved in negative regulation of Fas signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; and negative regulation of protein localization to plasma membrane. Located in Golgi apparatus; endosome membrane; and lysosomal membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: LFG3; MST100; MSTP100; PP1201; protein lifeguard 3; protein RECS1 homolog; RECS1; transmembrane BAX inhibitor motif-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,274,197 - 218,292,503 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,274,197 - 218,292,586 (-)EnsemblGRCh38hg38GRCh38
GRCh372219,138,920 - 219,157,226 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,847,161 - 218,865,524 (-)NCBINCBI36Build 36hg18NCBI36
Celera2212,905,492 - 212,923,864 (-)NCBICelera
Cytogenetic Map2q35ENTREZGENE
HuRef2210,992,006 - 211,010,384 (-)NCBIHuRef
CHM1_12219,145,398 - 219,163,764 (-)NCBICHM1_1
T2T-CHM13v2.02218,759,890 - 218,778,207 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (ISO)
amiodarone  (ISO)
amphetamine  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
ciglitazone  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diquat  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
formaldehyde  (EXP)
furan  (ISO)
inulin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
leflunomide  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
omeprazole  (ISO)
orphenadrine  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
resveratrol  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
sulforaphane  (EXP)
temozolomide  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP,ISO)
triptonide  (ISO)
valproic acid  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11996952   PMID:12477932   PMID:14702039   PMID:15278903   PMID:15342556   PMID:15489334   PMID:15498874   PMID:16303743   PMID:16607040   PMID:16636500   PMID:17897319   PMID:18440869  
PMID:19056867   PMID:21107705   PMID:21873635   PMID:21988832   PMID:22658674   PMID:22939629   PMID:23128233   PMID:23376485   PMID:23533145   PMID:25764978   PMID:26760575   PMID:27005424  
PMID:28065597   PMID:28298427   PMID:28481357   PMID:30447906   PMID:30930064   PMID:31391242   PMID:32296183   PMID:32513696   PMID:33144569   PMID:34099068   PMID:35337019   PMID:37823951  


Genomics

Comparative Map Data
TMBIM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382218,274,197 - 218,292,503 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2218,274,197 - 218,292,586 (-)EnsemblGRCh38hg38GRCh38
GRCh372219,138,920 - 219,157,226 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362218,847,161 - 218,865,524 (-)NCBINCBI36Build 36hg18NCBI36
Celera2212,905,492 - 212,923,864 (-)NCBICelera
Cytogenetic Map2q35ENTREZGENE
HuRef2210,992,006 - 211,010,384 (-)NCBIHuRef
CHM1_12219,145,398 - 219,163,764 (-)NCBICHM1_1
T2T-CHM13v2.02218,759,890 - 218,778,207 (-)NCBIT2T-CHM13v2.0
Tmbim1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39174,327,406 - 74,343,495 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl174,327,406 - 74,344,781 (-)EnsemblGRCm39 Ensembl
GRCm38174,288,247 - 74,304,336 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl174,288,247 - 74,305,622 (-)EnsemblGRCm38mm10GRCm38
MGSCv37174,334,821 - 74,350,910 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36174,221,461 - 74,237,367 (-)NCBIMGSCv36mm8
Celera174,849,600 - 74,865,677 (-)NCBICelera
Cytogenetic Map1C3NCBI
cM Map138.53NCBI
Tmbim1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8983,320,972 - 83,338,469 (-)NCBIGRCr8
mRatBN7.2975,871,835 - 75,889,366 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl975,871,835 - 75,889,069 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx984,317,374 - 84,334,544 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0989,446,295 - 89,463,469 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0987,832,511 - 87,849,679 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0981,569,289 - 81,586,469 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl981,569,289 - 81,586,553 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0981,335,836 - 81,353,016 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4973,614,825 - 73,632,005 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1973,761,807 - 73,770,449 (-)NCBI
Celera973,448,320 - 73,465,500 (-)NCBICelera
Cytogenetic Map9q33NCBI
Tmbim1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545315,092,522 - 15,099,021 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545315,083,179 - 15,100,197 (+)NCBIChiLan1.0ChiLan1.0
TMBIM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213120,906,392 - 120,924,762 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B120,921,356 - 120,939,734 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B105,533,578 - 105,551,969 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B224,131,476 - 224,149,669 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B224,131,478 - 224,143,170 (-)Ensemblpanpan1.1panPan2
TMBIM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13724,952,145 - 24,983,477 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3724,952,902 - 24,958,137 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3725,772,307 - 25,789,205 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03724,968,200 - 24,985,133 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3724,968,204 - 24,985,119 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13724,873,526 - 24,890,468 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03724,807,781 - 24,824,727 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03724,827,421 - 24,844,375 (-)NCBIUU_Cfam_GSD_1.0
Tmbim1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303174,460,373 - 174,477,277 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936569800,760 - 820,271 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936569803,154 - 820,000 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMBIM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15120,348,735 - 120,365,007 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115120,348,740 - 120,365,055 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TMBIM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110104,155,823 - 104,174,135 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10104,155,185 - 104,163,793 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604095,227,649 - 95,245,993 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmbim1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248236,735,497 - 6,756,093 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248236,736,216 - 6,757,285 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMBIM1
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_022152.6(TMBIM1):c.128C>T (p.Pro43Leu) single nucleotide variant not provided [RCV000513912] Chr2:218282014 [GRCh38]
Chr2:219146737 [GRCh37]
Chr2:2q35		 benign|likely benign
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219139778-219368933)x3 copy number gain not provided [RCV000682039] Chr2:219139778..219368933 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35		 pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q35(chr2:218271898-219825640) copy number gain not provided [RCV000767784] Chr2:218271898..219825640 [GRCh37]
Chr2:2q35		 likely pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
NM_022152.6(TMBIM1):c.846C>G (p.Pro282=) single nucleotide variant not provided [RCV001677069] Chr2:218275565 [GRCh38]
Chr2:219140288 [GRCh37]
Chr2:2q35		 benign
NM_022152.6(TMBIM1):c.790-41T>C single nucleotide variant not provided [RCV001647659] Chr2:218275662 [GRCh38]
Chr2:219140385 [GRCh37]
Chr2:2q35		 benign
NM_022152.6(TMBIM1):c.827G>A (p.Arg276Gln) single nucleotide variant Moyamoya angiopathy [RCV001261783] Chr2:218275584 [GRCh38]
Chr2:219140307 [GRCh37]
Chr2:2q35		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
GRCh37/hg19 2q35(chr2:218210665-220141650) copy number gain not specified [RCV002053284] Chr2:218210665..220141650 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.202G>A (p.Gly68Ser) single nucleotide variant not provided [RCV002214206] Chr2:218281940 [GRCh38]
Chr2:219146663 [GRCh37]
Chr2:2q35		 benign
NC_000002.11:g.(?_219135259)_(219209704_?)dup duplication Paroxysmal nonkinesigenic dyskinesia [RCV003119609] Chr2:219135259..219209704 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.218A>G (p.Tyr73Cys) single nucleotide variant not specified [RCV004132907] Chr2:218280111 [GRCh38]
Chr2:219144834 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.275G>A (p.Arg92Gln) single nucleotide variant not specified [RCV004090976] Chr2:218280054 [GRCh38]
Chr2:219144777 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.592A>G (p.Thr198Ala) single nucleotide variant not specified [RCV004102264] Chr2:218277413 [GRCh38]
Chr2:219142136 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.38G>A (p.Arg13His) single nucleotide variant not specified [RCV004123599] Chr2:218282104 [GRCh38]
Chr2:219146827 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.877T>C (p.Tyr293His) single nucleotide variant not specified [RCV004261389] Chr2:218275534 [GRCh38]
Chr2:219140257 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_022152.6(TMBIM1):c.355A>G (p.Ile119Val) single nucleotide variant not specified [RCV004341206] Chr2:218279302 [GRCh38]
Chr2:219144025 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.110C>G (p.Pro37Arg) single nucleotide variant not specified [RCV004359087] Chr2:218282032 [GRCh38]
Chr2:219146755 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.436G>T (p.Val146Phe) single nucleotide variant not specified [RCV004366160] Chr2:218278552 [GRCh38]
Chr2:219143275 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_022152.6(TMBIM1):c.239T>C (p.Val80Ala) single nucleotide variant not specified [RCV004472574] Chr2:218280090 [GRCh38]
Chr2:219144813 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.415G>A (p.Val139Met) single nucleotide variant not specified [RCV004472576] Chr2:218279045 [GRCh38]
Chr2:219143768 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.515C>G (p.Thr172Ser) single nucleotide variant not specified [RCV004472577] Chr2:218277669 [GRCh38]
Chr2:219142392 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.579T>G (p.Ile193Met) single nucleotide variant not specified [RCV004472578] Chr2:218277426 [GRCh38]
Chr2:219142149 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.753G>A (p.Met251Ile) single nucleotide variant not specified [RCV004472580] Chr2:218276062 [GRCh38]
Chr2:219140785 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.382G>A (p.Ala128Thr) single nucleotide variant not specified [RCV004472575] Chr2:218279078 [GRCh38]
Chr2:219143801 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.633G>C (p.Gln211His) single nucleotide variant not specified [RCV004472579] Chr2:218277372 [GRCh38]
Chr2:219142095 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.757T>C (p.Tyr253His) single nucleotide variant not specified [RCV004472581] Chr2:218276058 [GRCh38]
Chr2:219140781 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.11:g.(?_219136268)_(219139498_?)del deletion Paroxysmal nonkinesigenic dyskinesia [RCV004582616] Chr2:219136268..219139498 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.925G>A (p.Asp309Asn) single nucleotide variant not specified [RCV004686856] Chr2:218275486 [GRCh38]
Chr2:219140209 [GRCh37]
Chr2:2q35		 uncertain significance
NM_022152.6(TMBIM1):c.826C>T (p.Arg276Trp) single nucleotide variant not specified [RCV004684231] Chr2:218275585 [GRCh38]
Chr2:219140308 [GRCh37]
Chr2:2q35		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7569
Count of miRNA genes:1128
Interacting mature miRNAs:1443
Transcripts:ENST00000258412, ENST00000396809, ENST00000413976, ENST00000418569, ENST00000420341, ENST00000425694, ENST00000429501, ENST00000434015, ENST00000437694, ENST00000439306, ENST00000440422, ENST00000444000, ENST00000444183, ENST00000444881, ENST00000445635, ENST00000451181, ENST00000453281, ENST00000453776, ENST00000465082, ENST00000466012, ENST00000476429, ENST00000492966, ENST00000495113
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407375432GWAS1024408_Hheel bone mineral density QTL GWAS1024408 (human)6e-09heel bone mineral densitybone mineral density (CMO:0001226)2218291184218291185Human
407089154GWAS738130_Halkaline phosphatase measurement QTL GWAS738130 (human)1e-12alkaline phosphatase measurementblood alkaline phosphatase activity level (CMO:0000576)2218282080218282081Human
407203014GWAS851990_HHbA1c measurement QTL GWAS851990 (human)5e-09HbA1c measurementblood hemoglobin A1c level (CMO:0002786)2218276735218276736Human
406959750GWAS608726_Hleukocyte count QTL GWAS608726 (human)1e-08leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)2218277871218277872Human
407146764GWAS795740_Hcolorectal cancer QTL GWAS795740 (human)0.0000001colorectal cancer2218290058218290059Human
407099657GWAS748633_HCrohn's disease QTL GWAS748633 (human)4e-09Crohn's disease2218286495218286496Human
407145102GWAS794078_Hcolorectal cancer QTL GWAS794078 (human)2e-09colorectal cancer2218290058218290059Human
407174602GWAS823578_Hobsolete_red blood cell distribution width QTL GWAS823578 (human)1e-48obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)2218274217218274218Human
407111563GWAS760539_Hcardiovascular disease QTL GWAS760539 (human)3e-08cardiovascular disease2218277768218277769Human
407334162GWAS983138_Htriglyceride measurement QTL GWAS983138 (human)7e-11triglyceride measurementblood triglyceride level (CMO:0000118)2218278050218278051Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
407402321GWAS1051297_Hgallstones QTL GWAS1051297 (human)1e-08gallstones2218282080218282081Human
406953114GWAS602090_Hprotein measurement QTL GWAS602090 (human)1e-25protein measurement2218284440218284441Human
406996889GWAS645865_Hreticulocyte measurement QTL GWAS645865 (human)9e-27reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)2218285005218285006Human
407148312GWAS797288_HRS-10-hydroxywarfarin measurement QTL GWAS797288 (human)0.000008RS-10-hydroxywarfarin measurement2218285488218285489Human
407112920GWAS761896_Hinflammatory bowel disease QTL GWAS761896 (human)0.0000002inflammatory bowel disease2218286495218286496Human
407408470GWAS1057446_Hbody height QTL GWAS1057446 (human)5e-195body height (VT:0001253)body height (CMO:0000106)2218277769218277770Human
407170663GWAS819639_Hreticulocyte count QTL GWAS819639 (human)9e-16reticulocyte counttotal reticulocyte count (CMO:0003020)2218274217218274218Human
407058528GWAS707504_Hbody height QTL GWAS707504 (human)3e-45body height (VT:0001253)body height (CMO:0000106)2218282080218282081Human
407386219GWAS1035195_Hobsolete_red blood cell distribution width QTL GWAS1035195 (human)1e-48obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)2218285005218285006Human
407102951GWAS751927_Hulcerative colitis QTL GWAS751927 (human)2e-08ulcerative colitis2218286495218286496Human
407169517GWAS818493_Hreticulocyte count QTL GWAS818493 (human)2e-16reticulocyte counttotal reticulocyte count (CMO:0003020)2218274217218274218Human
406964202GWAS613178_HCOVID-19 QTL GWAS613178 (human)0.000001COVID-192218276735218276736Human
407172008GWAS820984_Hreticulocyte count QTL GWAS820984 (human)3e-18reticulocyte counttotal reticulocyte count (CMO:0003020)2218274217218274218Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human
407113835GWAS762811_Hreticulocyte count QTL GWAS762811 (human)1e-22reticulocyte counttotal reticulocyte count (CMO:0003020)2218285005218285006Human
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
406953267GWAS602243_Hprotein measurement QTL GWAS602243 (human)1e-22protein measurement2218284440218284441Human
407397306GWAS1046282_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1046282 (human)5e-10non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)2218291184218291185Human
407275445GWAS924421_Hbody height QTL GWAS924421 (human)4e-231body height (VT:0001253)body height (CMO:0000106)2218290058218290059Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
407167667GWAS816643_Hneutrophil measurement QTL GWAS816643 (human)2e-10neutrophil measurement2218285488218285489Human
407225213GWAS874189_HBMI-adjusted hip circumference QTL GWAS874189 (human)8e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)2218292256218292257Human
407091386GWAS740362_Hinflammatory bowel disease QTL GWAS740362 (human)4e-12inflammatory bowel disease2218286495218286496Human
407212732GWAS861708_Hsystolic blood pressure QTL GWAS861708 (human)1e-10systolic blood pressuresystolic blood pressure (CMO:0000004)2218291184218291185Human
407389683GWAS1038659_Hobsolete_red blood cell distribution width QTL GWAS1038659 (human)2e-13obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)2218276735218276736Human
407103864GWAS752840_Hreticulocyte measurement QTL GWAS752840 (human)2e-26reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)2218285005218285006Human
407020476GWAS669452_Hbody height QTL GWAS669452 (human)1e-15body height (VT:0001253)body height (CMO:0000106)2218287203218287204Human

Markers in Region
RH80510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,139,361 - 219,139,545UniSTSGRCh37
Build 362218,847,605 - 218,847,789RGDNCBI36
Celera2212,905,936 - 212,906,120RGD
Cytogenetic Map2q35UniSTS
HuRef2210,992,450 - 210,992,634UniSTS
RH78114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,139,633 - 219,139,763UniSTSGRCh37
Build 362218,847,877 - 218,848,007RGDNCBI36
Celera2212,906,208 - 212,906,338RGD
Cytogenetic Map2q35UniSTS
HuRef2210,992,722 - 210,992,852UniSTS
RH12007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,139,042 - 219,139,171UniSTSGRCh37
Build 362218,847,286 - 218,847,415RGDNCBI36
Celera2212,905,617 - 212,905,746RGD
Cytogenetic Map2q35UniSTS
HuRef2210,992,131 - 210,992,260UniSTS
GeneMap99-GB4 RH Map2682.0UniSTS
NCBI RH Map21717.1UniSTS
WI-17411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,139,719 - 219,139,868UniSTSGRCh37
Build 362218,847,963 - 218,848,112RGDNCBI36
Celera2212,906,294 - 212,906,443RGD
Cytogenetic Map2q35UniSTS
HuRef2210,992,808 - 210,992,957UniSTS
GeneMap99-GB4 RH Map2680.26UniSTS
Whitehead-RH Map21005.4UniSTS
NCBI RH Map21717.1UniSTS
RH41829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,138,953 - 219,139,205UniSTSGRCh37
Build 362218,847,197 - 218,847,449RGDNCBI36
Celera2212,905,528 - 212,905,780RGD
Cytogenetic Map2q35UniSTS
HuRef2210,992,042 - 210,992,294UniSTS
GeneMap99-GB4 RH Map2682.36UniSTS
NCBI RH Map21728.6UniSTS
RH68260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372219,139,020 - 219,139,153UniSTSGRCh37
Build 362218,847,264 - 218,847,397RGDNCBI36
Celera2212,905,595 - 212,905,728RGD
Cytogenetic Map2q35UniSTS
HuRef2210,992,109 - 210,992,242UniSTS
GeneMap99-GB4 RH Map2680.95UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB257295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF173384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF193045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP335035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA436747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA488388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD514853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF994144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ871236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000258412   ⟹   ENSP00000258412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,274,197 - 218,292,503 (-)Ensembl
Ensembl Acc Id: ENST00000396809   ⟹   ENSP00000380025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,274,201 - 218,285,934 (-)Ensembl
Ensembl Acc Id: ENST00000413976   ⟹   ENSP00000408729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,282,004 - 218,292,513 (-)Ensembl
Ensembl Acc Id: ENST00000418569   ⟹   ENSP00000406744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,278,536 - 218,287,303 (-)Ensembl
Ensembl Acc Id: ENST00000420341   ⟹   ENSP00000413624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,282,118 - 218,292,534 (-)Ensembl
Ensembl Acc Id: ENST00000425694   ⟹   ENSP00000399345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,277,946 - 218,282,208 (-)Ensembl
Ensembl Acc Id: ENST00000429501   ⟹   ENSP00000399987
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,277,935 - 218,290,089 (-)Ensembl
Ensembl Acc Id: ENST00000434015   ⟹   ENSP00000405516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,281,940 - 218,292,529 (-)Ensembl
Ensembl Acc Id: ENST00000437694   ⟹   ENSP00000404709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,275,432 - 218,292,503 (-)Ensembl
Ensembl Acc Id: ENST00000439306   ⟹   ENSP00000414572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,277,363 - 218,282,181 (-)Ensembl
Ensembl Acc Id: ENST00000440422   ⟹   ENSP00000412518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,279,335 - 218,292,586 (-)Ensembl
Ensembl Acc Id: ENST00000444000   ⟹   ENSP00000403462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,280,059 - 218,287,291 (-)Ensembl
Ensembl Acc Id: ENST00000444183   ⟹   ENSP00000410136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,279,338 - 218,292,534 (-)Ensembl
Ensembl Acc Id: ENST00000444881   ⟹   ENSP00000409738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,274,201 - 218,286,849 (-)Ensembl
Ensembl Acc Id: ENST00000445635   ⟹   ENSP00000401491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,275,006 - 218,292,513 (-)Ensembl
Ensembl Acc Id: ENST00000451181   ⟹   ENSP00000394946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,280,110 - 218,289,994 (-)Ensembl
Ensembl Acc Id: ENST00000453281   ⟹   ENSP00000395614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,280,077 - 218,292,535 (-)Ensembl
Ensembl Acc Id: ENST00000453776   ⟹   ENSP00000410771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,280,054 - 218,286,008 (-)Ensembl
Ensembl Acc Id: ENST00000465082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,274,201 - 218,280,992 (-)Ensembl
Ensembl Acc Id: ENST00000466012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,277,935 - 218,292,535 (-)Ensembl
Ensembl Acc Id: ENST00000476429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,278,409 - 218,279,539 (-)Ensembl
Ensembl Acc Id: ENST00000492966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,277,801 - 218,280,081 (-)Ensembl
Ensembl Acc Id: ENST00000495113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2218,278,479 - 218,292,512 (-)Ensembl
RefSeq Acc Id: NM_001321427   ⟹   NP_001308356
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,286,780 (-)NCBI
CHM1_12219,145,396 - 219,158,056 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,772,488 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321428   ⟹   NP_001308357
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,287,297 (-)NCBI
CHM1_12219,145,396 - 219,158,509 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,773,004 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321429   ⟹   NP_001308358
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,287,297 (-)NCBI
CHM1_12219,145,396 - 219,158,509 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,773,004 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321430   ⟹   NP_001308359
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,289,996 (-)NCBI
CHM1_12219,145,396 - 219,161,209 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,775,700 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321432   ⟹   NP_001308361
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,289,996 (-)NCBI
CHM1_12219,145,396 - 219,161,209 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,775,700 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321433   ⟹   NP_001308362
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,292,503 (-)NCBI
CHM1_12219,145,396 - 219,163,784 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,778,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321435   ⟹   NP_001308364
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,292,503 (-)NCBI
CHM1_12219,145,396 - 219,163,784 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,778,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321436   ⟹   NP_001308365
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,292,503 (-)NCBI
CHM1_12219,145,396 - 219,163,784 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,778,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321438   ⟹   NP_001308367
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,292,503 (-)NCBI
CHM1_12219,145,396 - 219,163,784 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,778,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_022152   ⟹   NP_071435
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,292,503 (-)NCBI
GRCh372219,138,917 - 219,157,280 (-)RGD
Build 362218,847,161 - 218,865,524 (-)NCBI Archive
Celera2212,905,492 - 212,923,864 (-)RGD
HuRef2210,992,006 - 211,010,384 (-)ENTREZGENE
CHM1_12219,145,396 - 219,163,784 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,778,207 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135643
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,274,197 - 218,292,503 (-)NCBI
CHM1_12219,145,396 - 219,163,784 (-)NCBI
T2T-CHM13v2.02218,759,890 - 218,778,207 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001308356 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308357 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308358 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308359 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308361 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308362 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308364 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308365 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308367 (Get FASTA)   NCBI Sequence Viewer  
  NP_071435 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG22473 (Get FASTA)   NCBI Sequence Viewer  
  AAH07980 (Get FASTA)   NCBI Sequence Viewer  
  AAH13428 (Get FASTA)   NCBI Sequence Viewer  
  AAH26348 (Get FASTA)   NCBI Sequence Viewer  
  AAH26693 (Get FASTA)   NCBI Sequence Viewer  
  AAQ13625 (Get FASTA)   NCBI Sequence Viewer  
  BAB55346 (Get FASTA)   NCBI Sequence Viewer  
  BAC11636 (Get FASTA)   NCBI Sequence Viewer  
  BAE93467 (Get FASTA)   NCBI Sequence Viewer  
  BAG52198 (Get FASTA)   NCBI Sequence Viewer  
  BAG52782 (Get FASTA)   NCBI Sequence Viewer  
  BAG60403 (Get FASTA)   NCBI Sequence Viewer  
  BAG60707 (Get FASTA)   NCBI Sequence Viewer  
  BAG62294 (Get FASTA)   NCBI Sequence Viewer  
  CAH56799 (Get FASTA)   NCBI Sequence Viewer  
  EAW70607 (Get FASTA)   NCBI Sequence Viewer  
  EAW70608 (Get FASTA)   NCBI Sequence Viewer  
  EAW70609 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000258412
  ENSP00000258412.3
  ENSP00000380025
  ENSP00000380025.2
  ENSP00000394946.1
  ENSP00000395614.1
  ENSP00000399345.1
  ENSP00000399987.1
  ENSP00000401491.1
  ENSP00000403462.1
  ENSP00000404709.2
  ENSP00000405516.2
  ENSP00000406744.1
  ENSP00000408729.1
  ENSP00000409738
  ENSP00000409738.1
  ENSP00000410136.1
  ENSP00000410771.1
  ENSP00000412518.1
  ENSP00000413624.1
  ENSP00000414572.1
GenBank Protein Q969X1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_071435   ⟸   NM_022152
- Peptide Label: isoform 1
- UniProtKB: Q8TAM3 (UniProtKB/Swiss-Prot),   Q8N1R3 (UniProtKB/Swiss-Prot),   B3KQY6 (UniProtKB/Swiss-Prot),   Q96K13 (UniProtKB/Swiss-Prot),   Q969X1 (UniProtKB/Swiss-Prot),   Q1MW40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308364   ⟸   NM_001321435
- Peptide Label: isoform 1
- UniProtKB: Q8TAM3 (UniProtKB/Swiss-Prot),   Q8N1R3 (UniProtKB/Swiss-Prot),   B3KQY6 (UniProtKB/Swiss-Prot),   Q96K13 (UniProtKB/Swiss-Prot),   Q969X1 (UniProtKB/Swiss-Prot),   Q1MW40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308367   ⟸   NM_001321438
- Peptide Label: isoform 2
- UniProtKB: B3KSM0 (UniProtKB/TrEMBL),   B4DUD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308362   ⟸   NM_001321433
- Peptide Label: isoform 1
- UniProtKB: Q8TAM3 (UniProtKB/Swiss-Prot),   Q8N1R3 (UniProtKB/Swiss-Prot),   B3KQY6 (UniProtKB/Swiss-Prot),   Q96K13 (UniProtKB/Swiss-Prot),   Q969X1 (UniProtKB/Swiss-Prot),   Q1MW40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308365   ⟸   NM_001321436
- Peptide Label: isoform 1
- UniProtKB: Q8TAM3 (UniProtKB/Swiss-Prot),   Q8N1R3 (UniProtKB/Swiss-Prot),   B3KQY6 (UniProtKB/Swiss-Prot),   Q96K13 (UniProtKB/Swiss-Prot),   Q969X1 (UniProtKB/Swiss-Prot),   Q1MW40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308361   ⟸   NM_001321432
- Peptide Label: isoform 1
- UniProtKB: Q8TAM3 (UniProtKB/Swiss-Prot),   Q8N1R3 (UniProtKB/Swiss-Prot),   B3KQY6 (UniProtKB/Swiss-Prot),   Q96K13 (UniProtKB/Swiss-Prot),   Q969X1 (UniProtKB/Swiss-Prot),   Q1MW40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308359   ⟸   NM_001321430
- Peptide Label: isoform 1
- UniProtKB: Q8TAM3 (UniProtKB/Swiss-Prot),   Q8N1R3 (UniProtKB/Swiss-Prot),   B3KQY6 (UniProtKB/Swiss-Prot),   Q96K13 (UniProtKB/Swiss-Prot),   Q969X1 (UniProtKB/Swiss-Prot),   Q1MW40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308357   ⟸   NM_001321428
- Peptide Label: isoform 1
- UniProtKB: Q8TAM3 (UniProtKB/Swiss-Prot),   Q8N1R3 (UniProtKB/Swiss-Prot),   B3KQY6 (UniProtKB/Swiss-Prot),   Q96K13 (UniProtKB/Swiss-Prot),   Q969X1 (UniProtKB/Swiss-Prot),   Q1MW40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308358   ⟸   NM_001321429
- Peptide Label: isoform 1
- UniProtKB: Q8TAM3 (UniProtKB/Swiss-Prot),   Q8N1R3 (UniProtKB/Swiss-Prot),   B3KQY6 (UniProtKB/Swiss-Prot),   Q96K13 (UniProtKB/Swiss-Prot),   Q969X1 (UniProtKB/Swiss-Prot),   Q1MW40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308356   ⟸   NM_001321427
- Peptide Label: isoform 1
- UniProtKB: Q8TAM3 (UniProtKB/Swiss-Prot),   Q8N1R3 (UniProtKB/Swiss-Prot),   B3KQY6 (UniProtKB/Swiss-Prot),   Q96K13 (UniProtKB/Swiss-Prot),   Q969X1 (UniProtKB/Swiss-Prot),   Q1MW40 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000404709   ⟸   ENST00000437694
Ensembl Acc Id: ENSP00000414572   ⟸   ENST00000439306
Ensembl Acc Id: ENSP00000399345   ⟸   ENST00000425694
Ensembl Acc Id: ENSP00000394946   ⟸   ENST00000451181
Ensembl Acc Id: ENSP00000408729   ⟸   ENST00000413976
Ensembl Acc Id: ENSP00000410771   ⟸   ENST00000453776
Ensembl Acc Id: ENSP00000395614   ⟸   ENST00000453281
Ensembl Acc Id: ENSP00000412518   ⟸   ENST00000440422
Ensembl Acc Id: ENSP00000258412   ⟸   ENST00000258412
Ensembl Acc Id: ENSP00000399987   ⟸   ENST00000429501
Ensembl Acc Id: ENSP00000406744   ⟸   ENST00000418569
Ensembl Acc Id: ENSP00000410136   ⟸   ENST00000444183
Ensembl Acc Id: ENSP00000403462   ⟸   ENST00000444000
Ensembl Acc Id: ENSP00000409738   ⟸   ENST00000444881
Ensembl Acc Id: ENSP00000401491   ⟸   ENST00000445635
Ensembl Acc Id: ENSP00000413624   ⟸   ENST00000420341
Ensembl Acc Id: ENSP00000405516   ⟸   ENST00000434015
Ensembl Acc Id: ENSP00000380025   ⟸   ENST00000396809

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969X1-F1-model_v2 AlphaFold Q969X1 1-311 view protein structure

Promoters
RGD ID:6862796
Promoter ID:EPDNEW_H4563
Type:initiation region
Name:TMBIM1_2
Description:transmembrane BAX inhibitor motif containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4564  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,287,280 - 218,287,340EPDNEW
RGD ID:6862798
Promoter ID:EPDNEW_H4564
Type:initiation region
Name:TMBIM1_1
Description:transmembrane BAX inhibitor motif containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4563  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382218,292,503 - 218,292,563EPDNEW
RGD ID:6798329
Promoter ID:HG_KWN:37213
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000338562,   OTTHUMT00000338577,   OTTHUMT00000338578
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,852,281 - 218,853,532 (-)MPROMDB
RGD ID:6798328
Promoter ID:HG_KWN:37215
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000338572,   OTTHUMT00000338573,   OTTHUMT00000338574,   UC002VHO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,858,746 - 218,860,932 (-)MPROMDB
RGD ID:6798327
Promoter ID:HG_KWN:37217
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000338571,   OTTHUMT00000338575
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,863,681 - 218,864,181 (-)MPROMDB
RGD ID:6798325
Promoter ID:HG_KWN:37218
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000256770,   OTTHUMT00000338558,   OTTHUMT00000338560,   OTTHUMT00000338563,   OTTHUMT00000338564,   OTTHUMT00000338565,   OTTHUMT00000338566,   OTTHUMT00000338567,   OTTHUMT00000338568,   OTTHUMT00000338569,   OTTHUMT00000338570
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,865,221 - 218,865,721 (-)MPROMDB
RGD ID:6852110
Promoter ID:EP73861
Type:initiation region
Name:HS_PP1201
Description:PP1201 protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362218,865,470 - 218,865,530EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23410 AgrOrtholog
COSMIC TMBIM1 COSMIC
Ensembl Genes ENSG00000135926 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000258412 ENTREZGENE
  ENST00000258412.8 UniProtKB/Swiss-Prot
  ENST00000396809 ENTREZGENE
  ENST00000396809.6 UniProtKB/Swiss-Prot
  ENST00000413976.1 UniProtKB/TrEMBL
  ENST00000418569.5 UniProtKB/TrEMBL
  ENST00000420341.1 UniProtKB/TrEMBL
  ENST00000425694.5 UniProtKB/TrEMBL
  ENST00000429501.5 UniProtKB/TrEMBL
  ENST00000434015.2 UniProtKB/TrEMBL
  ENST00000437694.6 UniProtKB/TrEMBL
  ENST00000439306.5 UniProtKB/TrEMBL
  ENST00000440422.5 UniProtKB/TrEMBL
  ENST00000444000.5 UniProtKB/TrEMBL
  ENST00000444183.5 UniProtKB/TrEMBL
  ENST00000444881 ENTREZGENE
  ENST00000444881.5 UniProtKB/Swiss-Prot
  ENST00000445635.5 UniProtKB/TrEMBL
  ENST00000451181.5 UniProtKB/TrEMBL
  ENST00000453281.5 UniProtKB/TrEMBL
  ENST00000453776.5 UniProtKB/TrEMBL
GTEx ENSG00000135926 GTEx
HGNC ID HGNC:23410 ENTREZGENE
Human Proteome Map TMBIM1 Human Proteome Map
InterPro Bax_inhibitor_1-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64114 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 64114 ENTREZGENE
OMIM 610364 OMIM
PANTHER PROTEIN LIFEGUARD 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23291 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Bax1-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670804 PharmGKB
UniProt A0A1D5RMQ2_HUMAN UniProtKB/TrEMBL
  B3KQY6 ENTREZGENE
  B3KSM0 ENTREZGENE, UniProtKB/TrEMBL
  B4DUD2 ENTREZGENE, UniProtKB/TrEMBL
  C9IYT2_HUMAN UniProtKB/TrEMBL
  C9IZ27_HUMAN UniProtKB/TrEMBL
  C9JAK9_HUMAN UniProtKB/TrEMBL
  C9JAP5_HUMAN UniProtKB/TrEMBL
  C9JDV0_HUMAN UniProtKB/TrEMBL
  C9JEN3_HUMAN UniProtKB/TrEMBL
  C9JI44_HUMAN UniProtKB/TrEMBL
  C9JM62_HUMAN UniProtKB/TrEMBL
  C9JN47_HUMAN UniProtKB/TrEMBL
  C9JW19_HUMAN UniProtKB/TrEMBL
  C9JWV9_HUMAN UniProtKB/TrEMBL
  F8WDY4_HUMAN UniProtKB/TrEMBL
  LFG3_HUMAN UniProtKB/Swiss-Prot
  Q1MW40 ENTREZGENE, UniProtKB/TrEMBL
  Q8N1R3 ENTREZGENE
  Q8TAM3 ENTREZGENE
  Q969X1 ENTREZGENE
  Q96K13 ENTREZGENE
UniProt Secondary B3KQY6 UniProtKB/Swiss-Prot
  Q8N1R3 UniProtKB/Swiss-Prot
  Q8TAM3 UniProtKB/Swiss-Prot
  Q96K13 UniProtKB/Swiss-Prot