TMEM225 (transmembrane protein 225) - Rat Genome Database

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Gene: TMEM225 (transmembrane protein 225) Homo sapiens
Analyze
Symbol: TMEM225
Name: transmembrane protein 225
RGD ID: 1605235
HGNC Page HGNC:32390
Description: Predicted to enable protein phosphatase 1 binding activity and protein phosphatase inhibitor activity. Predicted to be involved in negative regulation of phosphatase activity. Predicted to be located in inner acrosomal membrane and outer acrosomal membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PMP22 claudin domain containing; PMP22 claudin domain-containing protein; PMP22CD; PPP1R154; SPATA47; spermatogenesis associated 47
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
GRCh3811123,882,920 - 123,885,670 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11123,882,920 - 123,885,670 (-)EnsemblGRCh38hg38GRCh38
GRCh3711123,753,627 - 123,756,377 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611123,258,843 - 123,261,550 (-)NCBINCBI36Build 36hg18NCBI36
Celera11120,913,041 - 120,915,748 (-)NCBICelera
Cytogenetic Map11q24.1NCBI
HuRef11119,693,896 - 119,696,603 (-)NCBIHuRef
CHM1_111123,640,060 - 123,642,766 (-)NCBICHM1_1
T2T-CHM13v2.011123,911,680 - 123,914,430 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:19389623   PMID:21873635   PMID:23362303   PMID:25605614  


Genomics

Comparative Map Data
TMEM225
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811123,882,920 - 123,885,670 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11123,882,920 - 123,885,670 (-)EnsemblGRCh38hg38GRCh38
GRCh3711123,753,627 - 123,756,377 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611123,258,843 - 123,261,550 (-)NCBINCBI36Build 36hg18NCBI36
Celera11120,913,041 - 120,915,748 (-)NCBICelera
Cytogenetic Map11q24.1NCBI
HuRef11119,693,896 - 119,696,603 (-)NCBIHuRef
CHM1_111123,640,060 - 123,642,766 (-)NCBICHM1_1
T2T-CHM13v2.011123,911,680 - 123,914,430 (-)NCBIT2T-CHM13v2.0
Tmem225
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39940,059,418 - 40,062,176 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl940,059,418 - 40,062,170 (+)EnsemblGRCm39 Ensembl
GRCm38940,148,122 - 40,150,880 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl940,148,122 - 40,150,874 (+)EnsemblGRCm38mm10GRCm38
MGSCv37939,955,707 - 39,958,465 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36939,898,693 - 39,901,451 (+)NCBIMGSCv36mm8
Celera937,388,547 - 37,391,300 (+)NCBICelera
Cytogenetic Map9A5.1NCBI
cM Map921.42NCBI
Tmem225
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8849,394,638 - 49,397,196 (+)NCBIGRCr8
mRatBN7.2840,497,483 - 40,500,041 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl840,497,483 - 40,500,041 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx846,004,367 - 46,007,043 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0844,282,954 - 44,285,630 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0842,150,560 - 42,153,236 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0844,001,199 - 44,003,757 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl844,001,096 - 44,004,044 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0861,532,196 - 61,534,754 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4843,096,844 - 43,099,402 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera840,113,816 - 40,116,373 (+)NCBICelera
Cytogenetic Map8q22NCBI
Tmem225
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541224,544,480 - 24,547,498 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541224,544,669 - 24,547,471 (-)NCBIChiLan1.0ChiLan1.0
TMEM225
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29124,576,749 - 124,583,850 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111125,681,335 - 125,688,434 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011118,711,832 - 118,715,420 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111122,628,709 - 122,631,425 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11122,628,109 - 122,631,425 (-)Ensemblpanpan1.1panPan2
TMEM225
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1510,570,153 - 10,574,469 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl510,570,197 - 10,572,865 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha510,626,331 - 10,630,640 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0510,519,725 - 10,524,033 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl510,519,769 - 10,522,436 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1510,586,432 - 10,590,739 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0510,555,339 - 10,559,648 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0510,600,697 - 10,605,006 (-)NCBIUU_Cfam_GSD_1.0
Tmem225
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947105,358,796 - 105,361,475 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365428,280,386 - 8,282,671 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM225
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1950,730,121 - 50,732,787 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2956,019,431 - 56,022,233 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM225
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11115,195,428 - 115,199,208 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1115,195,646 - 115,198,074 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604310,913,628 - 10,916,820 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem225
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248801,287,126 - 1,295,505 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM225
18 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25		 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 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25		 pathogenic
NM_001013743.2(TMEM225):c.677G>A (p.Ter226=) single nucleotide variant Malignant melanoma [RCV000069215] Chr11:123883139 [GRCh38]
Chr11:123753846 [GRCh37]
Chr11:123259056 [NCBI36]
Chr11:11q24.1		 not provided
NM_001013743.2(TMEM225):c.216G>A (p.Ser72=) single nucleotide variant Malignant melanoma [RCV000062156] Chr11:123884602 [GRCh38]
Chr11:123755309 [GRCh37]
Chr11:123260519 [NCBI36]
Chr11:11q24.1		 not provided
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:120426093-124771213)x1 copy number loss See cases [RCV000134405] Chr11:120426093..124771213 [GRCh38]
Chr11:120296802..124641109 [GRCh37]
Chr11:119802012..124146319 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1 copy number loss See cases [RCV000136594] Chr11:122182443..125957977 [GRCh38]
Chr11:122053151..125827872 [GRCh37]
Chr11:121558361..125333082 [NCBI36]
Chr11:11q24.1-24.2		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic|likely benign
GRCh38/hg38 11q24.1-24.2(chr11:123543649-124802201)x3 copy number gain See cases [RCV000141175] Chr11:123543649..124802201 [GRCh38]
Chr11:123414357..124672097 [GRCh37]
Chr11:122919567..124177307 [NCBI36]
Chr11:11q24.1-24.2		 uncertain significance
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25		 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 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25		 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 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 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 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553) copy number loss 11q partial monosomy syndrome [RCV003236728] Chr11:120531028..134257553 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NC_000011.9:g.(?_123504851)_(126163012_?)dup duplication Holoprosencephaly 11 [RCV001871151] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance
NC_000011.9:g.(?_123504851)_(126163012_?)del deletion Holoprosencephaly 11 [RCV003119757]|not provided [RCV003119756] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1 copy number loss not provided [RCV002474497] Chr11:122975824..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
NM_001013743.3(TMEM225):c.645A>C (p.Lys215Asn) single nucleotide variant not specified [RCV004120540] Chr11:123883171 [GRCh38]
Chr11:123753878 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.616G>A (p.Ala206Thr) single nucleotide variant not specified [RCV004105553] Chr11:123883200 [GRCh38]
Chr11:123753907 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.613C>T (p.Arg205Cys) single nucleotide variant not specified [RCV004142532] Chr11:123883203 [GRCh38]
Chr11:123753910 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.515T>G (p.Leu172Arg) single nucleotide variant not specified [RCV004193571] Chr11:123883301 [GRCh38]
Chr11:123754008 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.207G>A (p.Met69Ile) single nucleotide variant not specified [RCV004083005] Chr11:123884611 [GRCh38]
Chr11:123755318 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.41T>C (p.Ile14Thr) single nucleotide variant not specified [RCV004180040] Chr11:123885385 [GRCh38]
Chr11:123756092 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.61G>A (p.Val21Ile) single nucleotide variant not specified [RCV004261969] Chr11:123885365 [GRCh38]
Chr11:123756072 [GRCh37]
Chr11:11q24.1		 likely benign
NM_001013743.3(TMEM225):c.110T>C (p.Ile37Thr) single nucleotide variant not specified [RCV004270739] Chr11:123885316 [GRCh38]
Chr11:123756023 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.619C>T (p.His207Tyr) single nucleotide variant not specified [RCV004340601] Chr11:123883197 [GRCh38]
Chr11:123753904 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.80G>T (p.Gly27Val) single nucleotide variant not specified [RCV004363952] Chr11:123885346 [GRCh38]
Chr11:123756053 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV003424871] Chr11:123885425 [GRCh38]
Chr11:123756132 [GRCh37]
Chr11:11q24.1		 likely benign
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1 copy number loss not specified [RCV003986915] Chr11:121183636..127620828 [GRCh37]
Chr11:11q23.3-24.2		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1 copy number loss not specified [RCV003986947] Chr11:123523103..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1 copy number loss not specified [RCV003986923] Chr11:121423232..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001013743.3(TMEM225):c.212C>T (p.Thr71Met) single nucleotide variant not specified [RCV004467545] Chr11:123884606 [GRCh38]
Chr11:123755313 [GRCh37]
Chr11:11q24.1		 likely benign
NM_001013743.3(TMEM225):c.550T>A (p.Ser184Thr) single nucleotide variant not specified [RCV004679642] Chr11:123883266 [GRCh38]
Chr11:123753973 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.209T>C (p.Met70Thr) single nucleotide variant not specified [RCV004867551] Chr11:123884609 [GRCh38]
Chr11:123755316 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.587G>A (p.Cys196Tyr) single nucleotide variant not specified [RCV004867552] Chr11:123883229 [GRCh38]
Chr11:123753936 [GRCh37]
Chr11:11q24.1		 uncertain significance
NM_001013743.3(TMEM225):c.538G>C (p.Glu180Gln) single nucleotide variant not specified [RCV004867553] Chr11:123883278 [GRCh38]
Chr11:123753985 [GRCh37]
Chr11:11q24.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:223
Count of miRNA genes:190
Interacting mature miRNAs:195
Transcripts:ENST00000375026, ENST00000528595
Prediction methods:Microtar, 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
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human

Markers in Region
RH93164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,755,953 - 123,756,094UniSTSGRCh37
Build 3611123,261,163 - 123,261,304RGDNCBI36
Celera11120,915,361 - 120,915,502RGD
Cytogenetic Map11q24.1UniSTS
HuRef11119,696,216 - 119,696,357UniSTS
RH102553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711123,753,773 - 123,753,943UniSTSGRCh37
Build 3611123,258,983 - 123,259,153RGDNCBI36
Celera11120,913,181 - 120,913,351RGD
Cytogenetic Map11q24.1UniSTS
HuRef11119,694,036 - 119,694,206UniSTS
GeneMap99-GB4 RH Map11409.64UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
86 228 160 166 351 137 183 35 124 24 146 535 475 279 71 523 127 11

Sequence


Ensembl Acc Id: ENST00000375026   ⟹   ENSP00000364166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,882,920 - 123,885,670 (-)Ensembl
Ensembl Acc Id: ENST00000528595   ⟹   ENSP00000431282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11123,883,215 - 123,885,633 (-)Ensembl
RefSeq Acc Id: NM_001013743   ⟹   NP_001013765
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,882,920 - 123,885,670 (-)NCBI
GRCh3711123,753,633 - 123,756,340 (-)RGD
Build 3611123,258,843 - 123,261,550 (-)NCBI Archive
Celera11120,913,041 - 120,915,748 (-)RGD
HuRef11119,693,896 - 119,696,603 (-)ENTREZGENE
CHM1_111123,640,060 - 123,642,775 (-)NCBI
T2T-CHM13v2.011123,911,680 - 123,914,430 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363605   ⟹   NP_001350534
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,882,920 - 123,885,670 (-)NCBI
T2T-CHM13v2.011123,911,680 - 123,914,430 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542802   ⟹   XP_011541104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,882,920 - 123,885,670 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054368627   ⟹   XP_054224602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011123,911,680 - 123,914,430 (-)NCBI
RefSeq Acc Id: NP_001013765   ⟸   NM_001013743
- Peptide Label: isoform 1
- UniProtKB: Q6GV28 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011541104   ⟸   XM_011542802
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001350534   ⟸   NM_001363605
- Peptide Label: isoform 2
- UniProtKB: E9PLT9 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000364166   ⟸   ENST00000375026
Ensembl Acc Id: ENSP00000431282   ⟸   ENST00000528595
RefSeq Acc Id: XP_054224602   ⟸   XM_054368627
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6GV28-F1-model_v2 AlphaFold Q6GV28 1-225 view protein structure

Promoters
RGD ID:7222485
Promoter ID:EPDNEW_H16988
Type:initiation region
Name:TMEM225_1
Description:transmembrane protein 225
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811123,885,658 - 123,885,718EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32390 AgrOrtholog
COSMIC TMEM225 COSMIC
Ensembl Genes ENSG00000204300 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000375026 ENTREZGENE
  ENST00000375026.7 UniProtKB/Swiss-Prot
  ENST00000528595 ENTREZGENE
Gene3D-CATH 1.20.140.150 UniProtKB/Swiss-Prot
GTEx ENSG00000204300 GTEx
HGNC ID HGNC:32390 ENTREZGENE
Human Proteome Map TMEM225 Human Proteome Map
InterPro TMEM225 UniProtKB/Swiss-Prot
KEGG Report hsa:338661 UniProtKB/Swiss-Prot
NCBI Gene 338661 ENTREZGENE
PANTHER PTHR36477 UniProtKB/Swiss-Prot
  TRANSMEMBRANE PROTEIN 225 UniProtKB/Swiss-Prot
PharmGKB PA164726548 PharmGKB
UniProt E9PLT9 ENTREZGENE, UniProtKB/TrEMBL
  Q6GV28 ENTREZGENE, UniProtKB/Swiss-Prot