TMEM65 (transmembrane protein 65) - Rat Genome Database

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Gene: TMEM65 (transmembrane protein 65) Homo sapiens
Analyze
Symbol: TMEM65
Name: transmembrane protein 65
RGD ID: 1603356
HGNC Page HGNC:25203
Description: Predicted to be involved in cardiac conduction; cardiac ventricle development; and regulation of cardiac conduction. Located in intercalated disc; mitochondrial inner membrane; and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
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
GRCh388124,306,189 - 124,372,701 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8124,306,189 - 124,372,701 (-)EnsemblGRCh38hg38GRCh38
GRCh378125,318,430 - 125,384,942 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368125,392,340 - 125,454,121 (-)NCBINCBI36Build 36hg18NCBI36
Celera8121,511,293 - 121,573,166 (-)NCBICelera
Cytogenetic Map8q24.13NCBI
HuRef8120,650,408 - 120,670,285 (-)NCBIHuRef
CHM1_18125,363,524 - 125,425,289 (-)NCBICHM1_1
T2T-CHM13v2.08125,438,941 - 125,505,444 (-)NCBIT2T-CHM13v2.0
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

Biological Process

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:8889548   PMID:12477932   PMID:14702039   PMID:15489334   PMID:19322201   PMID:20877624   PMID:21873635   PMID:22939629   PMID:24623722   PMID:24765583   PMID:26354767   PMID:26403541  
PMID:27499296   PMID:28295037   PMID:28514442   PMID:29180619   PMID:29509190   PMID:31617661   PMID:32296183   PMID:33957083   PMID:33961781   PMID:34079125   PMID:38341472  


Genomics

Comparative Map Data
TMEM65
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388124,306,189 - 124,372,701 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8124,306,189 - 124,372,701 (-)EnsemblGRCh38hg38GRCh38
GRCh378125,318,430 - 125,384,942 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368125,392,340 - 125,454,121 (-)NCBINCBI36Build 36hg18NCBI36
Celera8121,511,293 - 121,573,166 (-)NCBICelera
Cytogenetic Map8q24.13NCBI
HuRef8120,650,408 - 120,670,285 (-)NCBIHuRef
CHM1_18125,363,524 - 125,425,289 (-)NCBICHM1_1
T2T-CHM13v2.08125,438,941 - 125,505,444 (-)NCBIT2T-CHM13v2.0
Tmem65
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391558,654,118 - 58,695,510 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1558,654,118 - 58,695,487 (-)EnsemblGRCm39 Ensembl
GRCm381558,782,269 - 58,823,663 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1558,782,269 - 58,823,638 (-)EnsemblGRCm38mm10GRCm38
MGSCv371558,613,824 - 58,654,982 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361558,612,352 - 58,653,510 (-)NCBIMGSCv36mm8
Celera1560,311,677 - 60,352,685 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1525.09NCBI
Tmem65
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8792,163,632 - 92,268,430 (-)NCBIGRCr8
mRatBN7.2790,336,997 - 90,378,930 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl790,274,142 - 90,379,474 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx792,226,577 - 92,267,565 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0794,427,858 - 94,468,726 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0794,252,518 - 94,293,603 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0798,668,589 - 98,709,613 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl798,605,722 - 98,709,649 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0799,270,336 - 99,310,327 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4795,545,429 - 95,587,199 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera787,102,931 - 87,143,627 (-)NCBICelera
Cytogenetic Map7q33NCBI
Tmem65
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555403,007,879 - 3,064,919 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555403,006,776 - 3,064,938 (-)NCBIChiLan1.0ChiLan1.0
TMEM65
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27141,730,177 - 141,796,664 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18117,241,536 - 117,307,806 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08120,993,261 - 121,059,743 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18123,747,053 - 123,791,955 (-)NCBIpanpan1.1PanPan1.1panPan2
TMEM65
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11322,426,487 - 22,494,520 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1322,426,793 - 22,494,520 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1322,392,169 - 22,459,957 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01322,749,249 - 22,836,557 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11322,475,985 - 22,556,509 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01322,579,557 - 22,666,788 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01322,822,017 - 22,909,339 (-)NCBIUU_Cfam_GSD_1.0
Tmem65
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530315,821,641 - 15,855,329 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647023,261,738 - 23,277,560 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647023,247,722 - 23,284,894 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM65
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl415,263,745 - 15,352,225 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1415,263,400 - 15,317,350 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2415,896,004 - 15,938,113 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM65
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18118,883,409 - 118,944,834 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603921,241,671 - 21,303,962 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem65
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473530,805,189 - 30,866,490 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473530,805,189 - 30,868,059 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM65
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3 copy number gain See cases [RCV000050762] Chr8:124125245..125337217 [GRCh38]
Chr8:125137486..126349459 [GRCh37]
Chr8:125206667..126418641 [NCBI36]
Chr8:8q24.13		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21		 pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.13(chr8:125129829-125384737)x3 copy number gain See cases [RCV000447786] Chr8:125129829..125384737 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
NM_194291.3(TMEM65):c.622-5_622-4del deletion not provided [RCV001531089] Chr8:124314065..124314066 [GRCh38]
Chr8:125326306..125326307 [GRCh37]
Chr8:8q24.13		 likely benign
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q24.13(chr8:125310755-125983817)x3 copy number gain not provided [RCV000848433] Chr8:125310755..125983817 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1 copy number loss not provided [RCV000848164] Chr8:123074293..131113892 [GRCh37]
Chr8:8q24.13-24.21		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3 copy number gain not provided [RCV001006141] Chr8:124878368..126737708 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.10:g.(?_124515613)_(126379127_?)dup duplication not provided [RCV003113842] Chr8:124515613..126379127 [GRCh37]
Chr8:8q24.13		 uncertain significance
NC_000008.10:g.(?_124545411)_(125559374_?)dup duplication not provided [RCV003116289] Chr8:124545411..125559374 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1 copy number loss not provided [RCV002474553] Chr8:112234557..133668379 [GRCh37]
Chr8:8q23.3-24.22		 pathogenic
NM_194291.3(TMEM65):c.183G>T (p.Glu61Asp) single nucleotide variant not specified [RCV004092493] Chr8:124371975 [GRCh38]
Chr8:125384216 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_194291.3(TMEM65):c.334G>C (p.Gly112Arg) single nucleotide variant not specified [RCV004106273] Chr8:124330763 [GRCh38]
Chr8:125343004 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_194291.3(TMEM65):c.548G>A (p.Arg183Lys) single nucleotide variant not specified [RCV004225226] Chr8:124320159 [GRCh38]
Chr8:125332400 [GRCh37]
Chr8:8q24.13		 uncertain significance
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 copy number gain Neurodevelopmental disorder [RCV003327615] Chr8:115586904..135607135 [GRCh38]
Chr8:8q23.3-24.23		 pathogenic
GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1 copy number loss Exostoses, multiple, type 1 [RCV003329505] Chr8:118185471..126635744 [GRCh37]
Chr8:8q24.11-24.13		 pathogenic
NM_194291.3(TMEM65):c.158G>A (p.Arg53Gln) single nucleotide variant not specified [RCV004356148] Chr8:124372000 [GRCh38]
Chr8:125384241 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_194291.3(TMEM65):c.719G>A (p.Ser240Asn) single nucleotide variant not specified [RCV004341475] Chr8:124313964 [GRCh38]
Chr8:125326205 [GRCh37]
Chr8:8q24.13		 likely benign
NM_194291.3(TMEM65):c.144G>A (p.Pro48=) single nucleotide variant not provided [RCV003440624] Chr8:124372014 [GRCh38]
Chr8:125384255 [GRCh37]
Chr8:8q24.13		 likely benign
GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4 copy number gain Distal trisomy 8q [RCV003458956] Chr8:124534271..129054138 [GRCh37]
Chr8:8q24.13-24.21		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1 copy number loss not specified [RCV003986782] Chr8:118071721..132774256 [GRCh37]
Chr8:8q24.11-24.22		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_194291.3(TMEM65):c.646G>A (p.Gly216Ser) single nucleotide variant See cases [RCV003886329] Chr8:124314037 [GRCh38]
Chr8:125326278 [GRCh37]
Chr8:8q24.13		 uncertain significance
NM_194291.3(TMEM65):c.131C>G (p.Pro44Arg) single nucleotide variant TMEM65-related condition [RCV003934128] Chr8:124372027 [GRCh38]
Chr8:125384268 [GRCh37]
Chr8:8q24.13		 likely benign
NM_194291.3(TMEM65):c.143C>T (p.Pro48Leu) single nucleotide variant not specified [RCV004470447] Chr8:124372015 [GRCh38]
Chr8:125384256 [GRCh37]
Chr8:8q24.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:590
Count of miRNA genes:421
Interacting mature miRNAs:460
Transcripts:ENST00000297632
Prediction methods:Miranda
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
SHGC-111940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,345,932 - 125,346,215UniSTSGRCh37
Build 368125,415,113 - 125,415,396RGDNCBI36
Celera8121,534,060 - 121,534,343RGD
Cytogenetic Map8q24.13UniSTS
HuRef8120,673,182 - 120,673,465UniSTS
TNG Radiation Hybrid Map860791.0UniSTS
SHGC-145074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378125,387,368 - 125,387,710UniSTSGRCh37
Build 368125,456,549 - 125,456,891RGDNCBI36
Celera8121,575,594 - 121,575,936RGD
Cytogenetic Map8q24.13UniSTS
HuRef8120,714,711 - 120,715,053UniSTS
TNG Radiation Hybrid Map860813.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 165 217 480 88 273 80 1149 432 717 232 457 725 20 51 636
Low 2274 2704 1245 536 1592 385 3207 1763 3005 185 1000 888 155 1 1153 2152 5 2
Below cutoff 70 86 2 11 2 3 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000297632   ⟹   ENSP00000297632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8124,306,189 - 124,372,701 (-)Ensembl
RefSeq Acc Id: ENST00000704783   ⟹   ENSP00000516032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8124,312,586 - 124,372,157 (-)Ensembl
RefSeq Acc Id: ENST00000704784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8124,313,480 - 124,326,316 (-)Ensembl
RefSeq Acc Id: ENST00000704785   ⟹   ENSP00000516033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8124,313,489 - 124,372,157 (-)Ensembl
RefSeq Acc Id: ENST00000704786   ⟹   ENSP00000516034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8124,313,562 - 124,352,039 (-)Ensembl
RefSeq Acc Id: ENST00000704787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8124,313,678 - 124,331,352 (-)Ensembl
RefSeq Acc Id: ENST00000704788   ⟹   ENSP00000516035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8124,313,869 - 124,348,406 (-)Ensembl
RefSeq Acc Id: NM_194291   ⟹   NP_919267
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,306,189 - 124,372,701 (-)NCBI
GRCh378125,323,159 - 125,384,940 (-)RGD
Build 368125,392,340 - 125,454,121 (-)NCBI Archive
Celera8121,511,293 - 121,573,166 (-)RGD
HuRef8120,650,408 - 120,670,285 (-)NCBI
CHM1_18125,363,524 - 125,425,289 (-)NCBI
T2T-CHM13v2.08125,438,941 - 125,505,444 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_919267   ⟸   NM_194291
- UniProtKB: Q8N5G8 (UniProtKB/Swiss-Prot),   Q8WVK5 (UniProtKB/Swiss-Prot),   Q6PI78 (UniProtKB/Swiss-Prot),   A0A994J4W9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000297632   ⟸   ENST00000297632
RefSeq Acc Id: ENSP00000516034   ⟸   ENST00000704786
RefSeq Acc Id: ENSP00000516032   ⟸   ENST00000704783
RefSeq Acc Id: ENSP00000516035   ⟸   ENST00000704788
RefSeq Acc Id: ENSP00000516033   ⟸   ENST00000704785

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PI78-F1-model_v2 AlphaFold Q6PI78 1-240 view protein structure

Promoters
RGD ID:7214147
Promoter ID:EPDNEW_H12818
Type:initiation region
Name:TMEM65_2
Description:transmembrane protein 65
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12819  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,372,442 - 124,372,502EPDNEW
RGD ID:7214145
Promoter ID:EPDNEW_H12819
Type:initiation region
Name:TMEM65_1
Description:transmembrane protein 65
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12818  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388124,372,700 - 124,372,760EPDNEW
RGD ID:6807063
Promoter ID:HG_KWN:62053
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_194291
Position:
Human AssemblyChrPosition (strand)Source
Build 368125,453,964 - 125,454,464 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25203 AgrOrtholog
COSMIC TMEM65 COSMIC
Ensembl Genes ENSG00000164983 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000297632 ENTREZGENE
  ENST00000297632.8 UniProtKB/Swiss-Prot
  ENST00000704783.1 UniProtKB/TrEMBL
  ENST00000704785.1 UniProtKB/TrEMBL
  ENST00000704786.1 UniProtKB/TrEMBL
  ENST00000704788.1 UniProtKB/TrEMBL
GTEx ENSG00000164983 GTEx
HGNC ID HGNC:25203 ENTREZGENE
Human Proteome Map TMEM65 Human Proteome Map
InterPro TMEM65 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:157378 UniProtKB/Swiss-Prot
NCBI Gene 157378 ENTREZGENE
OMIM 616609 OMIM
PANTHER PTHR21706 UniProtKB/Swiss-Prot
  TRANSMEMBRANE PROTEIN 65 UniProtKB/Swiss-Prot
  TRANSMEMBRANE PROTEIN 65 UniProtKB/TrEMBL
  TRANSMEMBRANE PROTEIN 65 UniProtKB/TrEMBL
Pfam TMEM65 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670778 PharmGKB
UniProt A0A994J4P3_HUMAN UniProtKB/TrEMBL
  A0A994J4W9 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J794_HUMAN UniProtKB/TrEMBL
  A0A994J7M8_HUMAN UniProtKB/TrEMBL
  Q6PI78 ENTREZGENE
  Q8N5G8 ENTREZGENE
  Q8WVK5 ENTREZGENE
  TMM65_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8N5G8 UniProtKB/Swiss-Prot
  Q8WVK5 UniProtKB/Swiss-Prot