TMEM243 (transmembrane protein 243) - 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: TMEM243 (transmembrane protein 243) Homo sapiens
Analyze
Symbol: TMEM243
Name: transmembrane protein 243
RGD ID: 1349104
HGNC Page HGNC:21707
Description: Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C7orf23; MDR1 and mitochondrial taxol resistance associated; MGC4175; MM-TRAG; MMTRAG; transmembrane protein 243, mitochondrial; transmembrane protein C7orf23
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
GRCh38787,196,160 - 87,220,587 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl787,196,160 - 87,220,587 (-)EnsemblGRCh38hg38GRCh38
GRCh37786,825,476 - 86,849,903 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36786,663,414 - 86,686,967 (-)NCBINCBI36Build 36hg18NCBI36
Build 34786,470,130 - 86,493,682NCBI
Celera781,530,357 - 81,553,909 (-)NCBICelera
Cytogenetic Map7q21.12NCBI
HuRef781,436,464 - 81,460,052 (-)NCBIHuRef
CHM1_1786,755,502 - 86,778,704 (-)NCBICHM1_1
T2T-CHM13v2.0788,446,097 - 88,470,238 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2786,156,988 - 86,180,540 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IEA)

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
Additional References at PubMed
PMID:12477932   PMID:12690205   PMID:15342556   PMID:15489334   PMID:15556294   PMID:16344560   PMID:16382445   PMID:18510171   PMID:20351715   PMID:21516116   PMID:24623722   PMID:32296183  
PMID:33961781   PMID:36949045  


Genomics

Comparative Map Data
TMEM243
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38787,196,160 - 87,220,587 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl787,196,160 - 87,220,587 (-)EnsemblGRCh38hg38GRCh38
GRCh37786,825,476 - 86,849,903 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36786,663,414 - 86,686,967 (-)NCBINCBI36Build 36hg18NCBI36
Build 34786,470,130 - 86,493,682NCBI
Celera781,530,357 - 81,553,909 (-)NCBICelera
Cytogenetic Map7q21.12NCBI
HuRef781,436,464 - 81,460,052 (-)NCBIHuRef
CHM1_1786,755,502 - 86,778,704 (-)NCBICHM1_1
T2T-CHM13v2.0788,446,097 - 88,470,238 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2786,156,988 - 86,180,540 (-)NCBI
Tmem243
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3959,150,737 - 9,168,983 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl59,150,668 - 9,210,986 (+)EnsemblGRCm39 Ensembl
GRCm3859,100,737 - 9,118,983 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl59,100,668 - 9,160,986 (+)EnsemblGRCm38mm10GRCm38
MGSCv3759,100,737 - 9,118,983 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3659,106,743 - 9,124,989 (+)NCBIMGSCv36mm8
Celera59,017,375 - 9,035,335 (+)NCBICelera
Cytogenetic Map5A1NCBI
cM Map53.69NCBI
Tmem243
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8425,905,740 - 25,923,588 (-)NCBIGRCr8
mRatBN7.2424,950,791 - 24,968,642 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl424,950,791 - 24,968,642 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx429,967,532 - 29,985,355 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0425,893,798 - 25,911,621 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0424,268,657 - 24,286,443 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0421,902,803 - 21,920,651 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl421,902,803 - 21,920,651 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0421,834,167 - 21,852,015 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4421,369,696 - 21,387,544 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera420,448,239 - 20,466,571 (-)NCBICelera
Cytogenetic Map4q12NCBI
Tmem243
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495562142,121 - 50,628 (+)NCBIChiLan1.0ChiLan1.0
TMEM243
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26105,070,719 - 105,094,923 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17153,335,357 - 153,359,558 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0779,178,806 - 79,210,021 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1792,836,440 - 92,860,583 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl792,836,440 - 92,860,583 (-)Ensemblpanpan1.1panPan2
TMEM243
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11413,378,196 - 13,387,213 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1413,378,630 - 13,397,793 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1412,949,946 - 12,970,366 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01413,143,429 - 13,163,857 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1413,143,868 - 13,163,862 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11413,347,378 - 13,367,795 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01413,073,072 - 13,093,481 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01413,356,473 - 13,376,904 (-)NCBIUU_Cfam_GSD_1.0
Tmem243
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511826,405,870 - 26,427,032 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367631,574,312 - 1,595,523 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367631,574,372 - 1,664,339 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM243
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl993,393,722 - 93,416,627 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1993,393,695 - 93,416,634 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29102,873,776 - 102,896,734 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM243
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12161,722,078 - 61,744,605 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2161,722,206 - 61,744,126 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604242,312,874 - 42,335,462 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem243
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473934,631,269 - 34,652,654 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM243
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3 copy number gain See cases [RCV000053465] Chr7:86669909..87492659 [GRCh38]
Chr7:86299225..87121975 [GRCh37]
Chr7:86137161..86959911 [NCBI36]
Chr7:7q21.11-21.12		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1 copy number loss See cases [RCV000143271] Chr7:84002634..95228883 [GRCh38]
Chr7:83631950..94858195 [GRCh37]
Chr7:83469886..94696131 [NCBI36]
Chr7:7q21.11-21.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_024315.4(TMEM243):c.241T>C (p.Trp81Arg) single nucleotide variant not specified [RCV004305088] Chr7:87196752 [GRCh38]
Chr7:86826068 [GRCh37]
Chr7:7q21.12		 uncertain significance
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3		 uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.12(chr7:86826422-86885119)x3 copy number gain not provided [RCV000746864] Chr7:86826422..86885119 [GRCh37]
Chr7:7q21.12		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.12(chr7:86833114-87553208)x3 copy number gain not provided [RCV001258806] Chr7:86833114..87553208 [GRCh37]
Chr7:7q21.12		 uncertain significance
GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137) copy number gain not specified [RCV002053701] Chr7:77821356..93340137 [GRCh37]
Chr7:7q21.11-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_024315.4(TMEM243):c.183T>A (p.Asn61Lys) single nucleotide variant not specified [RCV004312831] Chr7:87197992 [GRCh38]
Chr7:86827308 [GRCh37]
Chr7:7q21.12		 uncertain significance
NM_024315.4(TMEM243):c.329A>G (p.Asn110Ser) single nucleotide variant not specified [RCV004261292] Chr7:87196664 [GRCh38]
Chr7:86825980 [GRCh37]
Chr7:7q21.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1066
Count of miRNA genes:642
Interacting mature miRNAs:726
Transcripts:ENST00000257637, ENST00000423734, ENST00000433078, ENST00000455575, ENST00000465976, ENST00000474074, ENST00000481425, ENST00000492231
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
STS-T90340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37786,825,396 - 86,825,557UniSTSGRCh37
Build 36786,663,332 - 86,663,493RGDNCBI36
Celera781,530,275 - 81,530,436RGD
Cytogenetic Map7q21UniSTS
Cytogenetic Map7q21.12UniSTS
HuRef781,436,382 - 81,436,543UniSTS
CRA_TCAGchr7v2786,156,906 - 86,157,067UniSTS
GeneMap99-GB4 RH Map7475.63UniSTS
RH78780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37786,825,661 - 86,825,821UniSTSGRCh37
Build 36786,663,597 - 86,663,757RGDNCBI36
Celera781,530,540 - 81,530,700RGD
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map7q21UniSTS
CRA_TCAGchr7v2786,157,171 - 86,157,331UniSTS
GeneMap99-GB4 RH Map7472.73UniSTS
SHGC-64937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37786,825,289 - 86,825,429UniSTSGRCh37
Build 36786,663,225 - 86,663,365RGDNCBI36
Celera781,530,168 - 81,530,308RGD
Cytogenetic Map7q21UniSTS
Cytogenetic Map7q21.12UniSTS
HuRef781,436,275 - 81,436,415UniSTS
CRA_TCAGchr7v2786,156,799 - 86,156,939UniSTS
TNG Radiation Hybrid Map737990.0UniSTS


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 2438 2788 2253 4972 1726 2351 6 624 1951 465 2269 7304 6471 53 3733 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001329472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_138030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL711214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP236768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB993361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB241717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000257637   ⟹   ENSP00000257637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl787,196,160 - 87,219,732 (-)Ensembl
Ensembl Acc Id: ENST00000423734   ⟹   ENSP00000407976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl787,197,701 - 87,219,630 (-)Ensembl
Ensembl Acc Id: ENST00000433078   ⟹   ENSP00000398083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl787,196,162 - 87,220,587 (-)Ensembl
Ensembl Acc Id: ENST00000455575   ⟹   ENSP00000401897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl787,219,489 - 87,220,530 (-)Ensembl
Ensembl Acc Id: ENST00000465976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl787,197,718 - 87,203,043 (-)Ensembl
Ensembl Acc Id: ENST00000474074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl787,198,228 - 87,219,626 (-)Ensembl
Ensembl Acc Id: ENST00000481425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl787,196,600 - 87,216,921 (-)Ensembl
Ensembl Acc Id: ENST00000492231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl787,197,983 - 87,199,613 (-)Ensembl
RefSeq Acc Id: NM_001329472   ⟹   NP_001316401
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,196,162 - 87,220,587 (-)NCBI
T2T-CHM13v2.0788,446,099 - 88,470,238 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329473   ⟹   NP_001316402
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,196,160 - 87,220,539 (-)NCBI
T2T-CHM13v2.0788,446,097 - 88,470,190 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329474   ⟹   NP_001316403
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,196,160 - 87,220,539 (-)NCBI
T2T-CHM13v2.0788,446,097 - 88,470,190 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329475   ⟹   NP_001316404
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,196,160 - 87,220,539 (-)NCBI
T2T-CHM13v2.0788,446,097 - 88,470,190 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410901   ⟹   NP_001397830
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,197,757 - 87,220,587 (-)NCBI
T2T-CHM13v2.0788,447,692 - 88,470,238 (-)NCBI
RefSeq Acc Id: NM_024315   ⟹   NP_077291
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,196,160 - 87,219,732 (-)NCBI
GRCh37786,825,477 - 86,849,889 (-)NCBI
Build 36786,663,414 - 86,686,967 (-)NCBI Archive
Celera781,530,357 - 81,553,909 (-)RGD
HuRef781,436,464 - 81,460,052 (-)ENTREZGENE
CHM1_1786,755,502 - 86,778,704 (-)NCBI
T2T-CHM13v2.0788,446,097 - 88,469,383 (-)NCBI
CRA_TCAGchr7v2786,156,988 - 86,180,540 (-)RGD
Sequence:
RefSeq Acc Id: NR_138030
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,196,160 - 87,220,539 (-)NCBI
T2T-CHM13v2.0788,446,097 - 88,470,190 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005250586   ⟹   XP_005250643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,197,682 - 87,220,539 (-)NCBI
GRCh37786,825,477 - 86,849,889 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005250587   ⟹   XP_005250644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,197,682 - 87,220,539 (-)NCBI
GRCh37786,825,477 - 86,849,889 (-)NCBI
Sequence:
RefSeq Acc Id: NP_077291   ⟸   NM_024315
- Peptide Label: isoform b
- UniProtKB: Q9BU79 (UniProtKB/Swiss-Prot),   D6W5P1 (UniProtKB/Swiss-Prot),   A4D1C6 (UniProtKB/Swiss-Prot),   B2R9I4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250643   ⟸   XM_005250586
- Peptide Label: isoform X1
- UniProtKB: C9JY04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250644   ⟸   XM_005250587
- Peptide Label: isoform X1
- UniProtKB: C9JY04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316401   ⟸   NM_001329472
- Peptide Label: isoform b
- UniProtKB: Q9BU79 (UniProtKB/Swiss-Prot),   D6W5P1 (UniProtKB/Swiss-Prot),   B2R9I4 (UniProtKB/Swiss-Prot),   A4D1C6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316402   ⟸   NM_001329473
- Peptide Label: isoform b
- UniProtKB: Q9BU79 (UniProtKB/Swiss-Prot),   D6W5P1 (UniProtKB/Swiss-Prot),   B2R9I4 (UniProtKB/Swiss-Prot),   A4D1C6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316403   ⟸   NM_001329474
- Peptide Label: isoform b
- UniProtKB: Q9BU79 (UniProtKB/Swiss-Prot),   D6W5P1 (UniProtKB/Swiss-Prot),   B2R9I4 (UniProtKB/Swiss-Prot),   A4D1C6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316404   ⟸   NM_001329475
- Peptide Label: isoform b
- UniProtKB: Q9BU79 (UniProtKB/Swiss-Prot),   D6W5P1 (UniProtKB/Swiss-Prot),   B2R9I4 (UniProtKB/Swiss-Prot),   A4D1C6 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000407976   ⟸   ENST00000423734
Ensembl Acc Id: ENSP00000257637   ⟸   ENST00000257637
Ensembl Acc Id: ENSP00000401897   ⟸   ENST00000455575
Ensembl Acc Id: ENSP00000398083   ⟸   ENST00000433078
RefSeq Acc Id: NP_001397830   ⟸   NM_001410901
- Peptide Label: isoform a
- UniProtKB: C9JY04 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BU79-F1-model_v2 AlphaFold Q9BU79 1-118 view protein structure

Promoters
RGD ID:6805300
Promoter ID:HG_KWN:58421
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000339473
Position:
Human AssemblyChrPosition (strand)Source
Build 36786,666,586 - 86,667,852 (-)MPROMDB
RGD ID:6805298
Promoter ID:HG_KWN:58422
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000334415
Position:
Human AssemblyChrPosition (strand)Source
Build 36786,669,811 - 86,671,202 (-)MPROMDB
RGD ID:6805297
Promoter ID:HG_KWN:58423
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000334414
Position:
Human AssemblyChrPosition (strand)Source
Build 36786,684,259 - 86,684,759 (-)MPROMDB
RGD ID:6805299
Promoter ID:HG_KWN:58425
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:OTTHUMT00000253377,   OTTHUMT00000334412,   OTTHUMT00000334413,   OTTHUMT00000334416,   OTTHUMT00000334417
Position:
Human AssemblyChrPosition (strand)Source
Build 36786,686,876 - 86,687,867 (-)MPROMDB
RGD ID:7210967
Promoter ID:EPDNEW_H11229
Type:initiation region
Name:TMEM243_1
Description:transmembrane protein 243
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11230  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,219,732 - 87,219,792EPDNEW
RGD ID:7210969
Promoter ID:EPDNEW_H11230
Type:initiation region
Name:TMEM243_2
Description:transmembrane protein 243
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11229  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,220,539 - 87,220,599EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21707 AgrOrtholog
COSMIC TMEM243 COSMIC
Ensembl Genes ENSG00000135185 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000257637 ENTREZGENE
  ENST00000257637.8 UniProtKB/Swiss-Prot
  ENST00000423734 ENTREZGENE
  ENST00000423734.1 UniProtKB/TrEMBL
  ENST00000433078 ENTREZGENE
  ENST00000433078.5 UniProtKB/Swiss-Prot
GTEx ENSG00000135185 GTEx
HGNC ID HGNC:21707 ENTREZGENE
Human Proteome Map TMEM243 Human Proteome Map
InterPro DUF2678 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79161 UniProtKB/Swiss-Prot
NCBI Gene TMEM243 ENTREZGENE
OMIM 616993 OMIM
PANTHER PTHR28603 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSMEMBRANE PROTEIN 243 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF2678 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134985688 PharmGKB
UniProt A4D1C6 ENTREZGENE
  B2R9I4 ENTREZGENE
  C9JY04 ENTREZGENE, UniProtKB/TrEMBL
  D6W5P1 ENTREZGENE
  Q9BU79 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A4D1C6 UniProtKB/Swiss-Prot
  B2R9I4 UniProtKB/Swiss-Prot
  D6W5P1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 TMEM243  transmembrane protein 243    transmembrane protein 243, mitochondrial  Symbol and/or name change 5135510 APPROVED
2012-12-12 TMEM243  transmembrane protein 243, mitochondrial  C7orf23  chromosome 7 open reading frame 23  Symbol and/or name change 5135510 APPROVED