TMC7 (transmembrane channel like 7) - Rat Genome Database

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Gene: TMC7 (transmembrane channel like 7) Homo sapiens
Analyze
Symbol: TMC7
Name: transmembrane channel like 7
RGD ID: 1344679
HGNC Page HGNC:23000
Description: Predicted to enable ion channel inhibitor activity and mechanosensitive monoatomic ion channel activity. Predicted to be involved in sensory perception of mechanical stimulus. Predicted to be located in plasma membrane. Predicted to be active in neuronal cell body.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp781O2274; FLJ21240; transmembrane channel-like 7; transmembrane channel-like protein 7
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
GRCh381618,983,934 - 19,063,942 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1618,983,934 - 19,063,942 (+)EnsemblGRCh38hg38GRCh38
GRCh371618,995,256 - 19,075,264 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361618,902,828 - 18,982,004 (+)NCBINCBI36Build 36hg18NCBI36
Build 341618,902,830 - 18,981,998NCBI
Celera1618,143,493 - 18,223,144 (+)NCBICelera
Cytogenetic Map16p12.3NCBI
HuRef1617,531,965 - 17,612,658 (+)NCBIHuRef
CHM1_11619,082,536 - 19,162,517 (+)NCBICHM1_1
T2T-CHM13v2.01618,914,769 - 18,994,754 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12812529   PMID:12906855   PMID:14702039   PMID:16344560   PMID:21873635   PMID:22566498   PMID:28514442   PMID:30021884   PMID:32393512   PMID:33961781   PMID:35256949  
PMID:36713450   PMID:38568807  


Genomics

Comparative Map Data
TMC7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381618,983,934 - 19,063,942 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1618,983,934 - 19,063,942 (+)EnsemblGRCh38hg38GRCh38
GRCh371618,995,256 - 19,075,264 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361618,902,828 - 18,982,004 (+)NCBINCBI36Build 36hg18NCBI36
Build 341618,902,830 - 18,981,998NCBI
Celera1618,143,493 - 18,223,144 (+)NCBICelera
Cytogenetic Map16p12.3NCBI
HuRef1617,531,965 - 17,612,658 (+)NCBIHuRef
CHM1_11619,082,536 - 19,162,517 (+)NCBICHM1_1
T2T-CHM13v2.01618,914,769 - 18,994,754 (+)NCBIT2T-CHM13v2.0
Tmc7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397118,135,064 - 118,184,052 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7118,135,064 - 118,183,959 (-)EnsemblGRCm39 Ensembl
GRCm387118,535,841 - 118,584,829 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7118,535,841 - 118,584,736 (-)EnsemblGRCm38mm10GRCm38
MGSCv377125,679,358 - 125,728,200 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367118,326,993 - 118,375,835 (-)NCBIMGSCv36mm8
Celera7118,493,632 - 118,508,188 (-)NCBICelera
Cytogenetic Map7F1NCBI
cM Map763.44NCBI
Tmc7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81182,287,742 - 182,340,000 (-)NCBIGRCr8
mRatBN7.21172,853,531 - 172,905,796 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1172,854,658 - 172,905,824 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1181,168,329 - 181,218,246 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01188,354,648 - 188,404,572 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01181,084,438 - 181,134,362 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01188,193,233 - 188,245,546 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1188,195,416 - 188,245,628 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01195,142,160 - 195,191,670 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41176,761,053 - 176,811,206 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1170,632,759 - 170,682,796 (-)NCBICelera
Cytogenetic Map1q35NCBI
Tmc7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554423,039,166 - 3,073,835 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554423,037,088 - 3,081,573 (-)NCBIChiLan1.0ChiLan1.0
TMC7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21820,247,014 - 20,326,005 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11624,770,476 - 24,849,511 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01619,245,759 - 19,325,113 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11619,092,150 - 19,168,041 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1619,092,280 - 19,166,704 (+)Ensemblpanpan1.1panPan2
TMC7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1625,855,162 - 25,917,214 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl625,855,223 - 25,907,762 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha627,217,187 - 27,270,613 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0626,009,709 - 26,071,990 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl626,009,755 - 26,063,568 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1625,826,418 - 25,871,793 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0625,704,090 - 25,766,253 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0626,093,860 - 26,156,029 (+)NCBIUU_Cfam_GSD_1.0
Tmc7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344116,949,150 - 116,994,829 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365015,047,011 - 5,113,590 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365015,048,138 - 5,077,927 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMC7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl326,306,219 - 26,360,880 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1326,306,176 - 26,360,887 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2326,967,113 - 27,007,200 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TMC7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1517,279,532 - 17,345,801 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl517,279,900 - 17,346,414 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606812,584,745 - 12,654,026 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmc7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247822,695,480 - 2,740,510 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247822,693,344 - 2,739,678 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMC7
62 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p12.3(chr16:18658344-19259042)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053827]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053827]|See cases [RCV000053827] Chr16:18658344..19259042 [GRCh38]
Chr16:18669666..19270364 [GRCh37]
Chr16:18577167..19177865 [NCBI36]
Chr16:16p12.3		 uncertain significance
NM_001160364.2(TMC7):c.151C>T (p.Gln51Ter) single nucleotide variant Malignant melanoma [RCV000071004] Chr16:19021649 [GRCh38]
Chr16:19032971 [GRCh37]
Chr16:18940472 [NCBI36]
Chr16:16p12.3		 not provided
NM_001160364.2(TMC7):c.164C>T (p.Ser55Phe) single nucleotide variant Malignant melanoma [RCV000071005] Chr16:19021662 [GRCh38]
Chr16:19032984 [GRCh37]
Chr16:18940485 [NCBI36]
Chr16:16p12.3		 not provided
NM_001160364.2(TMC7):c.1412G>A (p.Trp471Ter) single nucleotide variant Malignant melanoma [RCV000071006] Chr16:19051687 [GRCh38]
Chr16:19063009 [GRCh37]
Chr16:18970510 [NCBI36]
Chr16:16p12.3		 not provided
NM_024847.4(TMC7):c.188G>A (p.Ser63Asn) single nucleotide variant Malignant melanoma [RCV000062975] Chr16:19009292 [GRCh38]
Chr16:19020614 [GRCh37]
Chr16:18928115 [NCBI36]
Chr16:16p12.3		 not provided
NM_001160364.2(TMC7):c.132G>A (p.Gly44=) single nucleotide variant Malignant melanoma [RCV000062976] Chr16:19021630 [GRCh38]
Chr16:19032952 [GRCh37]
Chr16:18940453 [NCBI36]
Chr16:16p12.3		 not provided
NM_016138.4(COQ7):c.5G>A (p.Ser2Asn) single nucleotide variant Malignant melanoma [RCV000062977] Chr16:19067669 [GRCh38]
Chr16:19078991 [GRCh37]
Chr16:18986492 [NCBI36]
Chr16:16p12.3		 not provided
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p12.3(chr16:18759489-19293402)x3 copy number gain See cases [RCV000141803] Chr16:18759489..19293402 [GRCh38]
Chr16:18770811..19304724 [GRCh37]
Chr16:18678312..19212225 [NCBI36]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
NM_024847.4(TMC7):c.1352G>A (p.Arg451Gln) single nucleotide variant not specified [RCV004311993] Chr16:19044898 [GRCh38]
Chr16:19056220 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_024847.4(TMC7):c.1553+8C>T single nucleotide variant not provided [RCV000968322] Chr16:19045446 [GRCh38]
Chr16:19056768 [GRCh37]
Chr16:16p12.3		 benign
NM_024847.4(TMC7):c.1310G>A (p.Gly437Asp) single nucleotide variant not provided [RCV000887036] Chr16:19040419 [GRCh38]
Chr16:19051741 [GRCh37]
Chr16:16p12.3		 benign
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_024847.4(TMC7):c.1778C>T (p.Pro593Leu) single nucleotide variant not specified [RCV004684268] Chr16:19051723 [GRCh38]
Chr16:19063045 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.800C>T (p.Ala267Val) single nucleotide variant not specified [RCV004684270] Chr16:19030312 [GRCh38]
Chr16:19041634 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1130T>A (p.Phe377Tyr) single nucleotide variant not specified [RCV004684271] Chr16:19037998 [GRCh38]
Chr16:19049320 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.916T>C (p.Cys306Arg) single nucleotide variant not specified [RCV004684274] Chr16:19035734 [GRCh38]
Chr16:19047056 [GRCh37]
Chr16:16p12.3		 uncertain significance
NC_000016.9:g.(?_18794331)_(19089480_?)dup duplication not provided [RCV003119711] Chr16:18794331..19089480 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.244G>A (p.Ala82Thr) single nucleotide variant not specified [RCV004684276] Chr16:19009348 [GRCh38]
Chr16:19020670 [GRCh37]
Chr16:16p12.3		 likely benign
NM_024847.4(TMC7):c.742G>A (p.Gly248Arg) single nucleotide variant not specified [RCV004319262] Chr16:19030254 [GRCh38]
Chr16:19041576 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1069C>T (p.Arg357Cys) single nucleotide variant not specified [RCV004332797] Chr16:19037937 [GRCh38]
Chr16:19049259 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_024847.4(TMC7):c.47G>A (p.Arg16Gln) single nucleotide variant not specified [RCV004193882] Chr16:18984110 [GRCh38]
Chr16:18995432 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.836G>A (p.Ser279Asn) single nucleotide variant not specified [RCV004160041] Chr16:19030348 [GRCh38]
Chr16:19041670 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1982G>A (p.Gly661Asp) single nucleotide variant not specified [RCV004092015] Chr16:19056652 [GRCh38]
Chr16:19067974 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1267A>G (p.Met423Val) single nucleotide variant not specified [RCV004184556] Chr16:19040376 [GRCh38]
Chr16:19051698 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1165G>A (p.Glu389Lys) single nucleotide variant not specified [RCV004113534] Chr16:19038033 [GRCh38]
Chr16:19049355 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.11C>A (p.Ser4Tyr) single nucleotide variant not specified [RCV004190188] Chr16:18984074 [GRCh38]
Chr16:18995396 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.991C>T (p.Arg331Trp) single nucleotide variant not specified [RCV004180195] Chr16:19035809 [GRCh38]
Chr16:19047131 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.2072G>A (p.Arg691Gln) single nucleotide variant not specified [RCV004207836] Chr16:19059460 [GRCh38]
Chr16:19070782 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.140G>A (p.Arg47Gln) single nucleotide variant not specified [RCV004230067] Chr16:19009244 [GRCh38]
Chr16:19020566 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1581C>G (p.Cys527Trp) single nucleotide variant not specified [RCV004183173] Chr16:19047090 [GRCh38]
Chr16:19058412 [GRCh37]
Chr16:16p12.3		 likely benign
NM_024847.4(TMC7):c.301C>T (p.Arg101Trp) single nucleotide variant not specified [RCV004083105] Chr16:19009405 [GRCh38]
Chr16:19020727 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.817A>G (p.Ile273Val) single nucleotide variant not specified [RCV004088192] Chr16:19030329 [GRCh38]
Chr16:19041651 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1079C>G (p.Ser360Cys) single nucleotide variant not specified [RCV004117528] Chr16:19037947 [GRCh38]
Chr16:19049269 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.380C>T (p.Ser127Phe) single nucleotide variant not specified [RCV004203051] Chr16:19016518 [GRCh38]
Chr16:19027840 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.41C>T (p.Pro14Leu) single nucleotide variant not specified [RCV004246747] Chr16:18984104 [GRCh38]
Chr16:18995426 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.676T>A (p.Phe226Ile) single nucleotide variant not specified [RCV004235047] Chr16:19023160 [GRCh38]
Chr16:19034482 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1156T>C (p.Phe386Leu) single nucleotide variant not specified [RCV004209809] Chr16:19038024 [GRCh38]
Chr16:19049346 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1444A>C (p.Lys482Gln) single nucleotide variant not specified [RCV004185854] Chr16:19044990 [GRCh38]
Chr16:19056312 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1537G>A (p.Val513Met) single nucleotide variant not specified [RCV004102131] Chr16:19045422 [GRCh38]
Chr16:19056744 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1843A>G (p.Ile615Val) single nucleotide variant not specified [RCV004133773] Chr16:19051788 [GRCh38]
Chr16:19063110 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.945C>A (p.Phe315Leu) single nucleotide variant not specified [RCV004180585] Chr16:19035763 [GRCh38]
Chr16:19047085 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.94T>C (p.Phe32Leu) single nucleotide variant not specified [RCV004074471] Chr16:19009198 [GRCh38]
Chr16:19020520 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.449G>A (p.Arg150His) single nucleotide variant not specified [RCV004268587] Chr16:19016587 [GRCh38]
Chr16:19027909 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1940C>T (p.Thr647Met) single nucleotide variant not specified [RCV004259797] Chr16:19056610 [GRCh38]
Chr16:19067932 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1268T>A (p.Met423Lys) single nucleotide variant not specified [RCV004279373] Chr16:19040377 [GRCh38]
Chr16:19051699 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1070G>A (p.Arg357His) single nucleotide variant not specified [RCV004268544] Chr16:19037938 [GRCh38]
Chr16:19049260 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1174A>G (p.Lys392Glu) single nucleotide variant not specified [RCV004270149] Chr16:19038042 [GRCh38]
Chr16:19049364 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.407G>A (p.Arg136Gln) single nucleotide variant not specified [RCV004256431] Chr16:19016545 [GRCh38]
Chr16:19027867 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.958C>T (p.Arg320Cys) single nucleotide variant not specified [RCV004253307] Chr16:19035776 [GRCh38]
Chr16:19047098 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.790C>G (p.Leu264Val) single nucleotide variant not specified [RCV004272334] Chr16:19030302 [GRCh38]
Chr16:19041624 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1144G>A (p.Val382Ile) single nucleotide variant not specified [RCV004684273] Chr16:19038012 [GRCh38]
Chr16:19049334 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.800C>A (p.Ala267Glu) single nucleotide variant not specified [RCV004684277] Chr16:19030312 [GRCh38]
Chr16:19041634 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.86C>T (p.Ser29Phe) single nucleotide variant not specified [RCV004684272] Chr16:19009190 [GRCh38]
Chr16:19020512 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.2150C>G (p.Ala717Gly) single nucleotide variant not specified [RCV004684275] Chr16:19061821 [GRCh38]
Chr16:19073143 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1997C>G (p.Ala666Gly) single nucleotide variant not specified [RCV004310111] Chr16:19056667 [GRCh38]
Chr16:19067989 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1229C>T (p.Pro410Leu) single nucleotide variant not specified [RCV004355257] Chr16:19040338 [GRCh38]
Chr16:19051660 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.320A>C (p.Gln107Pro) single nucleotide variant not specified [RCV004349430] Chr16:19016458 [GRCh38]
Chr16:19027780 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.176G>A (p.Arg59Gln) single nucleotide variant not specified [RCV004357736] Chr16:19009280 [GRCh38]
Chr16:19020602 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.425T>A (p.Leu142Gln) single nucleotide variant not specified [RCV004341914] Chr16:19016563 [GRCh38]
Chr16:19027885 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3 copy number gain not provided [RCV003485106] Chr16:19046826..19831178 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1668C>T (p.Ile556=) single nucleotide variant not provided [RCV003886028] Chr16:19047177 [GRCh38]
Chr16:19058499 [GRCh37]
Chr16:16p12.3		 likely benign
NM_024847.4(TMC7):c.1282A>T (p.Ile428Phe) single nucleotide variant not specified [RCV004472644] Chr16:19040391 [GRCh38]
Chr16:19051713 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1669G>A (p.Gly557Arg) single nucleotide variant not specified [RCV004472646] Chr16:19047178 [GRCh38]
Chr16:19058500 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1928T>C (p.Val643Ala) single nucleotide variant not specified [RCV004472649] Chr16:19056598 [GRCh38]
Chr16:19067920 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.2003C>T (p.Ala668Val) single nucleotide variant not specified [RCV004472650] Chr16:19056673 [GRCh38]
Chr16:19067995 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1864A>G (p.Ile622Val) single nucleotide variant not specified [RCV004472647] Chr16:19051809 [GRCh38]
Chr16:19063131 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.455T>C (p.Ile152Thr) single nucleotide variant not specified [RCV004472654] Chr16:19016593 [GRCh38]
Chr16:19027915 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.707G>A (p.Gly236Asp) single nucleotide variant not specified [RCV004472656] Chr16:19023191 [GRCh38]
Chr16:19034513 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.2113C>T (p.Arg705Cys) single nucleotide variant not specified [RCV004472651] Chr16:19061784 [GRCh38]
Chr16:19073106 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.571C>T (p.Leu191Phe) single nucleotide variant not specified [RCV004472655] Chr16:19021739 [GRCh38]
Chr16:19033061 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1898C>T (p.Pro633Leu) single nucleotide variant not specified [RCV004472648] Chr16:19056568 [GRCh38]
Chr16:19067890 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.785A>G (p.Tyr262Cys) single nucleotide variant not specified [RCV004472657] Chr16:19030297 [GRCh38]
Chr16:19041619 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1202G>A (p.Gly401Glu) single nucleotide variant not specified [RCV004472643] Chr16:19040311 [GRCh38]
Chr16:19051633 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.1646A>G (p.Tyr549Cys) single nucleotide variant not specified [RCV004472645] Chr16:19047155 [GRCh38]
Chr16:19058477 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.436C>T (p.Arg146Trp) single nucleotide variant not specified [RCV004472653] Chr16:19016574 [GRCh38]
Chr16:19027896 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_024847.4(TMC7):c.866A>G (p.Glu289Gly) single nucleotide variant not specified [RCV004472658] Chr16:19035684 [GRCh38]
Chr16:19047006 [GRCh37]
Chr16:16p12.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR191hsa-miR-191-5pMirtarbaseexternal_infoImmunohistochemistry//Immunoprecipitaion//LuciferaFunctional MTI20924108

Predicted Target Of
Summary Value
Count of predictions:2162
Count of miRNA genes:797
Interacting mature miRNAs:908
Transcripts:ENST00000304381, ENST00000421369, ENST00000561963, ENST00000568469, ENST00000569532
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407124310GWAS773286_Hresponse to candesartan QTL GWAS773286 (human)0.000006response to candesartan161901722719017228Human
406975349GWAS624325_Hpsychosis predisposition measurement QTL GWAS624325 (human)3e-08psychosis predisposition measurement161899385818993859Human
406998166GWAS647142_HHerpes Zoster QTL GWAS647142 (human)6e-09Herpes Zoster161899388918993890Human

Markers in Region
D16S410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371619,074,857 - 19,075,043UniSTSGRCh37
GRCh371619,074,911 - 19,075,046UniSTSGRCh37
Build 361618,982,412 - 18,982,547RGDNCBI36
Celera1618,222,791 - 18,222,926RGD
Celera1618,222,737 - 18,222,923UniSTS
Cytogenetic Map16p12.3UniSTS
HuRef1617,612,305 - 17,612,440UniSTS
HuRef1617,612,251 - 17,612,437UniSTS
Marshfield Genetic Map1635.44RGD
Genethon Genetic Map1634.6UniSTS
TNG Radiation Hybrid Map1610984.0UniSTS
deCODE Assembly Map1640.25UniSTS
Stanford-G3 RH Map161063.0UniSTS
GeneMap99-GB4 RH Map16185.47UniSTS
NCBI RH Map16213.0UniSTS
GeneMap99-G3 RH Map161023.0UniSTS
RH92994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371619,077,718 - 19,077,967UniSTSGRCh37
Build 361618,985,219 - 18,985,468RGDNCBI36
Celera1618,225,598 - 18,225,847RGD
Cytogenetic Map16p12.3UniSTS
HuRef1617,615,130 - 17,615,379UniSTS
GeneMap99-GB4 RH Map16183.53UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D16S410  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16p12.3UniSTS
Marshfield Genetic Map1635.44UniSTS
Genethon Genetic Map1634.6UniSTS
deCODE Assembly Map1640.25UniSTS


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 2249 4973 1723 2348 5 620 1313 462 2269 6666 5835 51 3734 1 852 1743 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001160364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001324268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF088010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY236498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY263165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR933669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA161026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000304381   ⟹   ENSP00000304710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1618,983,934 - 19,063,942 (+)Ensembl
Ensembl Acc Id: ENST00000421369   ⟹   ENSP00000397081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1618,984,287 - 19,063,942 (+)Ensembl
Ensembl Acc Id: ENST00000561963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,033,516 - 19,038,030 (+)Ensembl
Ensembl Acc Id: ENST00000568469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1618,984,023 - 19,045,139 (+)Ensembl
Ensembl Acc Id: ENST00000569532   ⟹   ENSP00000455041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1618,983,934 - 19,059,996 (+)Ensembl
RefSeq Acc Id: NM_001160364   ⟹   NP_001153836
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381618,984,287 - 19,063,942 (+)NCBI
GRCh371618,995,256 - 19,075,264 (+)RGD
Celera1618,143,493 - 18,223,144 (+)RGD
HuRef1617,531,965 - 17,612,658 (+)RGD
CHM1_11619,082,889 - 19,162,517 (+)NCBI
T2T-CHM13v2.01618,915,122 - 18,994,754 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001300732   ⟹   NP_001287661
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381618,983,934 - 19,060,007 (+)NCBI
CHM1_11619,082,536 - 19,158,571 (+)NCBI
T2T-CHM13v2.01618,914,769 - 18,990,819 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324263   ⟹   NP_001311192
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381618,983,934 - 19,063,942 (+)NCBI
CHM1_11619,082,536 - 19,162,517 (+)NCBI
T2T-CHM13v2.01618,914,769 - 18,994,754 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324265   ⟹   NP_001311194
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381618,983,934 - 19,063,942 (+)NCBI
CHM1_11619,082,536 - 19,162,517 (+)NCBI
T2T-CHM13v2.01618,914,769 - 18,994,754 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001324268   ⟹   NP_001311197
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381618,983,934 - 19,063,942 (+)NCBI
CHM1_11619,082,536 - 19,162,517 (+)NCBI
T2T-CHM13v2.01618,914,769 - 18,994,754 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024847   ⟹   NP_079123
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381618,983,934 - 19,063,942 (+)NCBI
GRCh371618,995,256 - 19,075,264 (+)RGD
Build 361618,902,828 - 18,982,004 (+)NCBI Archive
Celera1618,143,493 - 18,223,144 (+)RGD
HuRef1617,531,965 - 17,612,658 (+)RGD
CHM1_11619,082,536 - 19,162,517 (+)NCBI
T2T-CHM13v2.01618,914,769 - 18,994,754 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136733
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381618,983,934 - 19,063,942 (+)NCBI
CHM1_11619,082,536 - 19,162,517 (+)NCBI
T2T-CHM13v2.01618,914,769 - 18,994,754 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434661   ⟹   XP_047290617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,006,695 - 19,063,942 (+)NCBI
RefSeq Acc Id: XM_047434662   ⟹   XP_047290618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381618,983,934 - 19,063,942 (+)NCBI
RefSeq Acc Id: XM_054313959   ⟹   XP_054169934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01618,937,519 - 18,994,754 (+)NCBI
RefSeq Acc Id: XM_054313960   ⟹   XP_054169935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01618,914,769 - 18,994,754 (+)NCBI
RefSeq Acc Id: NP_079123   ⟸   NM_024847
- Peptide Label: isoform a
- UniProtKB: Q86WX0 (UniProtKB/Swiss-Prot),   Q7Z5M4 (UniProtKB/Swiss-Prot),   Q5H9Q8 (UniProtKB/Swiss-Prot),   E7ERB6 (UniProtKB/Swiss-Prot),   Q9H766 (UniProtKB/Swiss-Prot),   Q7Z402 (UniProtKB/Swiss-Prot),   B3KSZ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153836   ⟸   NM_001160364
- Peptide Label: isoform b
- UniProtKB: Q7Z402 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001287661   ⟸   NM_001300732
- Peptide Label: isoform c
- UniProtKB: H3BNW8 (UniProtKB/TrEMBL),   B3KSZ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311194   ⟸   NM_001324265
- Peptide Label: isoform e
- UniProtKB: B3KSZ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001311192   ⟸   NM_001324263
- Peptide Label: isoform d
- Sequence:
RefSeq Acc Id: NP_001311197   ⟸   NM_001324268
- Peptide Label: isoform d
- Sequence:
Ensembl Acc Id: ENSP00000455041   ⟸   ENST00000569532
Ensembl Acc Id: ENSP00000397081   ⟸   ENST00000421369
Ensembl Acc Id: ENSP00000304710   ⟸   ENST00000304381
RefSeq Acc Id: XP_047290618   ⟸   XM_047434662
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290617   ⟸   XM_047434661
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054169935   ⟸   XM_054313960
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054169934   ⟸   XM_054313959
- Peptide Label: isoform X1
Protein Domains
TMC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z402-F1-model_v2 AlphaFold Q7Z402 1-723 view protein structure

Promoters
RGD ID:6793511
Promoter ID:HG_KWN:23169
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_001160364,   NM_024847,   UC002DFP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361618,902,611 - 18,903,111 (+)MPROMDB
RGD ID:7231451
Promoter ID:EPDNEW_H21471
Type:initiation region
Name:TMC7_1
Description:transmembrane channel like 7
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
GRCh381618,983,975 - 18,984,035EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23000 AgrOrtholog
COSMIC TMC7 COSMIC
Ensembl Genes ENSG00000170537 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000304381 ENTREZGENE
  ENST00000304381.10 UniProtKB/Swiss-Prot
  ENST00000421369 ENTREZGENE
  ENST00000421369.3 UniProtKB/Swiss-Prot
  ENST00000569532 ENTREZGENE
  ENST00000569532.5 UniProtKB/TrEMBL
GTEx ENSG00000170537 GTEx
HGNC ID HGNC:23000 ENTREZGENE
Human Proteome Map TMC7 Human Proteome Map
InterPro TMC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TMC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79905 UniProtKB/Swiss-Prot
NCBI Gene 79905 ENTREZGENE
OMIM 617198 OMIM
PANTHER PTHR23302 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSMEMBRANE CHANNEL-LIKE PROTEIN 7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TMC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134988099 PharmGKB
UniProt B3KSZ3 ENTREZGENE, UniProtKB/TrEMBL
  E7ERB6 ENTREZGENE
  H3BNW8 ENTREZGENE, UniProtKB/TrEMBL
  Q5H9Q8 ENTREZGENE
  Q7Z402 ENTREZGENE
  Q7Z5M4 ENTREZGENE
  Q86WX0 ENTREZGENE
  Q9H766 ENTREZGENE
  TMC7_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary E7ERB6 UniProtKB/Swiss-Prot
  Q5H9Q8 UniProtKB/Swiss-Prot
  Q7Z5M4 UniProtKB/Swiss-Prot
  Q86WX0 UniProtKB/Swiss-Prot
  Q9H766 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 TMC7  transmembrane channel like 7    transmembrane channel-like 7  Symbol and/or name change 5135510 APPROVED