TMEM123 (transmembrane protein 123) - Rat Genome Database

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Gene: TMEM123 (transmembrane protein 123) Homo sapiens
Analyze
Symbol: TMEM123
Name: transmembrane protein 123
RGD ID: 1605596
HGNC Page HGNC:30138
Description: Located in external side of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KCT-3; KCT3; keratinocytes associated transmembrane protein 3; keratinocytes-associated transmembrane protein 3; porimin; PORMIN; pro oncosis receptor inducing membrane injury; pro-oncosis receptor inducing membrane injury; serine/threonine-rich receptor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh3811102,396,332 - 102,452,765 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11102,396,332 - 102,470,384 (-)EnsemblGRCh38hg38GRCh38
GRCh3711102,267,063 - 102,323,496 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611101,772,266 - 101,828,985 (-)NCBINCBI36Build 36hg18NCBI36
Celera1199,428,614 - 99,485,334 (-)NCBICelera
Cytogenetic Map11q22.2NCBI
HuRef1198,193,581 - 98,250,555 (-)NCBIHuRef
CHM1_111102,150,071 - 102,206,782 (-)NCBICHM1_1
T2T-CHM13v2.011102,398,458 - 102,454,892 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
amitrole  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
glucose  (ISO)
glycidol  (ISO)
herbicide  (EXP)
hydrogen peroxide  (EXP)
inulin  (ISO)
irinotecan  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
omeprazole  (ISO)
paracetamol  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
SCH 23390  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Heightened Innate Immune Responses in the Respiratory Tract of COVID-19 Patients. Zhou Z, etal., Cell Host Microbe. 2020 Jun 10;27(6):883-890.e2. doi: 10.1016/j.chom.2020.04.017. Epub 2020 May 4.
Additional References at PubMed
PMID:8125298   PMID:9600958   PMID:11481458   PMID:11893509   PMID:12477932   PMID:12752121   PMID:12975309   PMID:15340161   PMID:15489334   PMID:16189514   PMID:16303743   PMID:16344560  
PMID:19322201   PMID:20888340   PMID:21873635   PMID:23535732   PMID:24318988   PMID:25416956   PMID:26186194   PMID:28514442   PMID:32296183   PMID:32814053   PMID:33961781   PMID:34064525  
PMID:37426665  


Genomics

Comparative Map Data
TMEM123
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811102,396,332 - 102,452,765 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11102,396,332 - 102,470,384 (-)EnsemblGRCh38hg38GRCh38
GRCh3711102,267,063 - 102,323,496 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611101,772,266 - 101,828,985 (-)NCBINCBI36Build 36hg18NCBI36
Celera1199,428,614 - 99,485,334 (-)NCBICelera
Cytogenetic Map11q22.2NCBI
HuRef1198,193,581 - 98,250,555 (-)NCBIHuRef
CHM1_111102,150,071 - 102,206,782 (-)NCBICHM1_1
T2T-CHM13v2.011102,398,458 - 102,454,892 (-)NCBIT2T-CHM13v2.0
Tmem123
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3997,764,078 - 7,794,334 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl97,764,042 - 7,794,334 (+)EnsemblGRCm39 Ensembl
GRCm3897,764,077 - 7,794,333 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl97,764,041 - 7,794,333 (+)EnsemblGRCm38mm10GRCm38
MGSCv3797,764,077 - 7,794,333 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3697,764,649 - 7,794,854 (+)NCBIMGSCv36mm8
Celera95,156,034 - 5,186,291 (+)NCBICelera
Cytogenetic Map9A1NCBI
cM Map92.46NCBI
Tmem123
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8813,206,907 - 13,237,069 (+)NCBIGRCr8
mRatBN7.284,922,077 - 4,952,228 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl84,922,098 - 4,952,224 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx88,883,450 - 8,913,390 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.087,181,230 - 7,211,169 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.085,181,742 - 5,211,908 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.085,967,373 - 5,997,387 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl85,967,463 - 5,997,383 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.085,969,112 - 5,999,126 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.484,604,130 - 4,632,932 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.184,604,129 - 4,632,932 (+)NCBI
Celera86,478,699 - 6,512,657 (+)NCBICelera
Cytogenetic Map8q11NCBI
Tmem123
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554125,690,988 - 5,741,109 (-)NCBIChiLan1.0ChiLan1.0
TMEM123
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29103,195,323 - 103,251,788 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111104,283,691 - 104,340,392 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01197,342,669 - 97,399,342 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111100,835,988 - 100,892,618 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11100,835,988 - 100,892,618 (-)Ensemblpanpan1.1panPan2
TMEM123
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1529,223,682 - 29,284,076 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha529,174,439 - 29,233,164 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0529,277,988 - 29,336,816 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl529,277,955 - 29,336,818 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1529,312,550 - 29,370,582 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0529,192,177 - 29,251,032 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0529,367,494 - 29,425,743 (+)NCBIUU_Cfam_GSD_1.0
Tmem123
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494786,040,980 - 86,102,981 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365515,447,563 - 5,495,530 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365515,433,528 - 5,495,529 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM123
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl933,084,822 - 33,160,311 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1933,084,820 - 33,160,346 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2937,033,047 - 37,080,716 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM123
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1193,767,359 - 93,822,539 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl193,765,365 - 93,822,806 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604332,041,026 - 32,096,611 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in TMEM123
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3		 pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1 copy number loss See cases [RCV000136574] Chr11:98357901..106059146 [GRCh38]
Chr11:98228629..105929873 [GRCh37]
Chr11:97733839..105435083 [NCBI36]
Chr11:11q22.1-22.3		 pathogenic
GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3 copy number gain See cases [RCV000136846] Chr11:101452984..104044105 [GRCh38]
Chr11:101323715..103914833 [GRCh37]
Chr11:100828925..103420043 [NCBI36]
Chr11:11q22.1-22.3		 pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3		 pathogenic
NM_052932.3(TMEM123):c.488A>T (p.Lys163Ile) single nucleotide variant not specified [RCV004314605] Chr11:102401653 [GRCh38]
Chr11:102272384 [GRCh37]
Chr11:11q22.2		 uncertain significance
GRCh37/hg19 11q22.2(chr11:102323664-102401448)x3 copy number gain See cases [RCV000446744] Chr11:102323664..102401448 [GRCh37]
Chr11:11q22.2		 uncertain significance
GRCh37/hg19 11q22.2(chr11:102249285-102323664)x3 copy number gain See cases [RCV000447841] Chr11:102249285..102323664 [GRCh37]
Chr11:11q22.2		 likely benign
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1 copy number loss See cases [RCV000511844] Chr11:98515900..104970876 [GRCh37]
Chr11:11q22.1-22.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2		 pathogenic
GRCh37/hg19 11q22.2(chr11:102298002-102306750)x1 copy number loss not provided [RCV000737652] Chr11:102298002..102306750 [GRCh37]
Chr11:11q22.2		 benign
GRCh37/hg19 11q22.2(chr11:102300876-102306430)x1 copy number loss not provided [RCV000737653] Chr11:102300876..102306430 [GRCh37]
Chr11:11q22.2		 benign
GRCh37/hg19 11q22.2(chr11:102300876-102306515)x1 copy number loss not provided [RCV000737654] Chr11:102300876..102306515 [GRCh37]
Chr11:11q22.2		 benign
GRCh37/hg19 11q22.2(chr11:102300876-102306750)x1 copy number loss not provided [RCV000737655] Chr11:102300876..102306750 [GRCh37]
Chr11:11q22.2		 benign
GRCh37/hg19 11q22.2(chr11:102305304-102306750)x1 copy number loss not provided [RCV000737656] Chr11:102305304..102306750 [GRCh37]
Chr11:11q22.2		 benign
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3 copy number gain not provided [RCV002472738] Chr11:99059204..103281943 [GRCh37]
Chr11:11q22.1-22.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1		 pathogenic
NM_052932.3(TMEM123):c.292A>G (p.Thr98Ala) single nucleotide variant not specified [RCV004684389] Chr11:102402072 [GRCh38]
Chr11:102272803 [GRCh37]
Chr11:11q22.2		 uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
GRCh37/hg19 11q22.2(chr11:102308740-102676879) copy number gain not specified [RCV002052953] Chr11:102308740..102676879 [GRCh37]
Chr11:11q22.2		 uncertain significance
NC_000011.9:g.(?_101323686)_(103349981_?)del deletion Jeune thoracic dystrophy [RCV001942288]|not provided [RCV001942287] Chr11:101323686..103349981 [GRCh37]
Chr11:11q22.1-22.3		 pathogenic|no classifications from unflagged records
NC_000011.9:g.(?_101374735)_(103349981_?)dup duplication not provided [RCV003122918] Chr11:101374735..103349981 [GRCh37]
Chr11:11q22.1-22.3		 uncertain significance
NM_052932.3(TMEM123):c.410A>G (p.His137Arg) single nucleotide variant not specified [RCV004684390] Chr11:102401954 [GRCh38]
Chr11:102272685 [GRCh37]
Chr11:11q22.2		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1 copy number loss not provided [RCV002472602] Chr11:98770072..104602846 [GRCh37]
Chr11:11q22.1-22.3		 likely pathogenic
GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1 copy number loss not provided [RCV002472494] Chr11:101371503..109306519 [GRCh37]
Chr11:11q22.1-22.3		 pathogenic
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3		 pathogenic
NM_052932.3(TMEM123):c.164T>C (p.Leu55Pro) single nucleotide variant not specified [RCV004096471] Chr11:102402200 [GRCh38]
Chr11:102272931 [GRCh37]
Chr11:11q22.2		 uncertain significance
NM_052932.3(TMEM123):c.119A>G (p.Asn40Ser) single nucleotide variant not specified [RCV004095157] Chr11:102448850 [GRCh38]
Chr11:102319581 [GRCh37]
Chr11:11q22.2		 uncertain significance
NM_052932.3(TMEM123):c.278C>T (p.Ala93Val) single nucleotide variant not specified [RCV004206836] Chr11:102402086 [GRCh38]
Chr11:102272817 [GRCh37]
Chr11:11q22.2		 uncertain significance
NM_052932.3(TMEM123):c.11G>T (p.Gly4Val) single nucleotide variant not specified [RCV004186779] Chr11:102452613 [GRCh38]
Chr11:102323344 [GRCh37]
Chr11:11q22.2		 uncertain significance
NM_052932.3(TMEM123):c.326C>G (p.Ser109Cys) single nucleotide variant not specified [RCV004216782] Chr11:102402038 [GRCh38]
Chr11:102272769 [GRCh37]
Chr11:11q22.2		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3 copy number gain not provided [RCV003484850] Chr11:97147292..102979905 [GRCh37]
Chr11:11q21-22.3		 uncertain significance
NM_052932.3(TMEM123):c.125G>C (p.Gly42Ala) single nucleotide variant not specified [RCV004474890] Chr11:102448844 [GRCh38]
Chr11:102319575 [GRCh37]
Chr11:11q22.2		 uncertain significance
NM_052932.3(TMEM123):c.220C>T (p.Pro74Ser) single nucleotide variant not specified [RCV004474891] Chr11:102402144 [GRCh38]
Chr11:102272875 [GRCh37]
Chr11:11q22.2		 likely benign
NM_052932.3(TMEM123):c.589C>T (p.Arg197Trp) single nucleotide variant not specified [RCV004474893] Chr11:102401552 [GRCh38]
Chr11:102272283 [GRCh37]
Chr11:11q22.2		 uncertain significance
NM_052932.3(TMEM123):c.460A>C (p.Met154Leu) single nucleotide variant not specified [RCV004474892] Chr11:102401681 [GRCh38]
Chr11:102272412 [GRCh37]
Chr11:11q22.2		 uncertain significance
NM_052932.3(TMEM123):c.76G>T (p.Ala26Ser) single nucleotide variant not specified [RCV004474894] Chr11:102452548 [GRCh38]
Chr11:102323279 [GRCh37]
Chr11:11q22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2121
Count of miRNA genes:735
Interacting mature miRNAs:844
Transcripts:ENST00000361236, ENST00000398136, ENST00000525577, ENST00000526676, ENST00000528969, ENST00000529492, ENST00000531103, ENST00000532161
Prediction methods:Miranda, Rnahybrid
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
407077538GWAS726514_Htotal blood protein measurement QTL GWAS726514 (human)1e-11total blood protein measurementblood protein measurement (CMO:0000028)11102443537102443538Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
407138139GWAS787115_Hvein graft stenosis QTL GWAS787115 (human)0.000008vein graft stenosis11102410020102410021Human

Markers in Region
WI-19267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,267,105 - 102,267,354UniSTSGRCh37
Build 3611101,772,315 - 101,772,564RGDNCBI36
Celera1199,428,663 - 99,428,912RGD
Cytogenetic Map11q22.1UniSTS
HuRef1198,193,630 - 98,193,878UniSTS
GeneMap99-GB4 RH Map11348.76UniSTS
Whitehead-RH Map11465.6UniSTS
WI-21659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,272,913 - 102,273,178UniSTSGRCh37
Build 3611101,778,123 - 101,778,388RGDNCBI36
Celera1199,434,469 - 99,434,734RGD
Cytogenetic Map11q22.1UniSTS
HuRef1198,199,435 - 98,199,700UniSTS
GeneMap99-GB4 RH Map11349.06UniSTS
Whitehead-RH Map11463.6UniSTS
RH45899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,269,413 - 102,269,575UniSTSGRCh37
Build 3611101,774,623 - 101,774,785RGDNCBI36
Celera1199,430,970 - 99,431,132RGD
Cytogenetic Map11q22.1UniSTS
HuRef1198,195,936 - 98,196,098UniSTS
GeneMap99-GB4 RH Map11348.76UniSTS
D11S4712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,273,047 - 102,273,186UniSTSGRCh37
Build 3611101,778,257 - 101,778,396RGDNCBI36
Celera1199,434,603 - 99,434,742RGD
Cytogenetic Map11q22.1UniSTS
HuRef1198,199,569 - 98,199,708UniSTS
D11S4047E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,267,188 - 102,267,308UniSTSGRCh37
Build 3611101,772,398 - 101,772,518RGDNCBI36
Celera1199,428,746 - 99,428,866RGD
Cytogenetic Map11q22.1UniSTS
HuRef1198,193,712 - 98,193,832UniSTS
STS-N39521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,274,577 - 102,274,709UniSTSGRCh37
Build 3611101,779,787 - 101,779,919RGDNCBI36
Celera1199,436,133 - 99,436,265RGD
Cytogenetic Map11q22.1UniSTS
HuRef1198,201,099 - 98,201,231UniSTS
GeneMap99-GB4 RH Map11348.76UniSTS
RH66146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,267,107 - 102,267,278UniSTSGRCh37
Build 3611101,772,317 - 101,772,488RGDNCBI36
Celera1199,428,665 - 99,428,836RGD
Cytogenetic Map11q22.1UniSTS
HuRef1198,193,632 - 98,193,802UniSTS
GeneMap99-GB4 RH Map11348.76UniSTS
RH67911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,267,110 - 102,267,224UniSTSGRCh37
Build 3611101,772,320 - 101,772,434RGDNCBI36
Celera1199,428,668 - 99,428,782RGD
Cytogenetic Map11q22.1UniSTS
HuRef1198,193,635 - 98,193,748UniSTS
GeneMap99-GB4 RH Map11348.86UniSTS
RH78251  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q22.1UniSTS
HuRef1198,199,529 - 98,199,694UniSTS
GeneMap99-GB4 RH Map11348.16UniSTS
NCBI RH Map11859.9UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_052932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ293406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY008283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY157580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS051231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB146474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000361236   ⟹   ENSP00000355285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11102,396,332 - 102,452,839 (-)Ensembl
Ensembl Acc Id: ENST00000398136   ⟹   ENSP00000381204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11102,396,332 - 102,452,765 (-)Ensembl
Ensembl Acc Id: ENST00000525577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11102,401,925 - 102,470,384 (-)Ensembl
Ensembl Acc Id: ENST00000526676   ⟹   ENSP00000435842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11102,402,099 - 102,452,355 (-)Ensembl
Ensembl Acc Id: ENST00000528969   ⟹   ENSP00000434976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11102,398,856 - 102,451,231 (-)Ensembl
Ensembl Acc Id: ENST00000529492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11102,401,744 - 102,452,552 (-)Ensembl
Ensembl Acc Id: ENST00000531103   ⟹   ENSP00000433695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11102,402,034 - 102,449,452 (-)Ensembl
Ensembl Acc Id: ENST00000532161   ⟹   ENSP00000435331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11102,398,824 - 102,452,366 (-)Ensembl
RefSeq Acc Id: NM_052932   ⟹   NP_443164
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811102,396,332 - 102,452,765 (-)NCBI
GRCh3711102,267,056 - 102,323,775 (-)RGD
Build 3611101,772,266 - 101,828,985 (-)NCBI Archive
Celera1199,428,614 - 99,485,334 (-)RGD
HuRef1198,193,581 - 98,250,555 (-)ENTREZGENE
CHM1_111102,150,071 - 102,206,782 (-)NCBI
T2T-CHM13v2.011102,398,458 - 102,454,892 (-)NCBI
Sequence:
RefSeq Acc Id: NP_443164   ⟸   NM_052932
- Peptide Label: precursor
- UniProtKB: Q8IWS2 (UniProtKB/Swiss-Prot),   Q96QV2 (UniProtKB/Swiss-Prot),   Q8N131 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000381204   ⟸   ENST00000398136
Ensembl Acc Id: ENSP00000433695   ⟸   ENST00000531103
Ensembl Acc Id: ENSP00000355285   ⟸   ENST00000361236
Ensembl Acc Id: ENSP00000435331   ⟸   ENST00000532161
Ensembl Acc Id: ENSP00000435842   ⟸   ENST00000526676
Ensembl Acc Id: ENSP00000434976   ⟸   ENST00000528969

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N131-F1-model_v2 AlphaFold Q8N131 1-208 view protein structure

Promoters
RGD ID:6810186
Promoter ID:HG_ACW:14020
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:TMEM123.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3611101,827,604 - 101,828,104 (-)MPROMDB
RGD ID:6789437
Promoter ID:HG_KWN:14037
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_052932,   UC009YXC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611101,828,566 - 101,829,587 (-)MPROMDB
RGD ID:7221911
Promoter ID:EPDNEW_H16701
Type:initiation region
Name:TMEM123_1
Description:transmembrane protein 123
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16702  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811102,452,765 - 102,452,825EPDNEW
RGD ID:7221913
Promoter ID:EPDNEW_H16702
Type:initiation region
Name:TMEM123_2
Description:transmembrane protein 123
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16701  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811102,453,015 - 102,453,075EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30138 AgrOrtholog
COSMIC TMEM123 COSMIC
Ensembl Genes ENSG00000152558 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361236.7 UniProtKB/Swiss-Prot
  ENST00000398136 ENTREZGENE
  ENST00000398136.7 UniProtKB/Swiss-Prot
  ENST00000526676.1 UniProtKB/TrEMBL
  ENST00000528969.5 UniProtKB/TrEMBL
  ENST00000531103.5 UniProtKB/TrEMBL
  ENST00000532161.5 UniProtKB/TrEMBL
GTEx ENSG00000152558 GTEx
HGNC ID HGNC:30138 ENTREZGENE
Human Proteome Map TMEM123 Human Proteome Map
InterPro CD164_MGC24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:114908 UniProtKB/Swiss-Prot
NCBI Gene 114908 ENTREZGENE
OMIM 606356 OMIM
PANTHER PORIMIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11337 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MGC-24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485643 PharmGKB
UniProt E9PJW0_HUMAN UniProtKB/TrEMBL
  E9PKT4_HUMAN UniProtKB/TrEMBL
  E9PSB1_HUMAN UniProtKB/TrEMBL
  L8EBC6_HUMAN UniProtKB/TrEMBL
  PORIM_HUMAN UniProtKB/Swiss-Prot
  Q8IWS2 ENTREZGENE
  Q8N131 ENTREZGENE
  Q96QV2 ENTREZGENE
UniProt Secondary Q8IWS2 UniProtKB/Swiss-Prot
  Q96QV2 UniProtKB/Swiss-Prot