TMEM120A (transmembrane protein 120A) - Rat Genome Database

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Gene: TMEM120A (transmembrane protein 120A) Homo sapiens
Analyze
Symbol: TMEM120A
Name: transmembrane protein 120A
RGD ID: 1605325
HGNC Page HGNC:21697
Description: Predicted to enable monoatomic ion channel activity. Involved in fat cell differentiation; protein heterooligomerization; and protein homooligomerization. Predicted to be located in plasma membrane. Predicted to be active in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ion channel TACAN; NET29; TACAN; TMPIT; transmembrane protein induced by tumor necrosis factor alpha
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
GRCh38775,986,831 - 75,994,595 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl775,986,831 - 75,994,656 (-)EnsemblGRCh38hg38GRCh38
GRCh37775,616,149 - 75,623,913 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36775,454,243 - 75,461,889 (-)NCBINCBI36Build 36hg18NCBI36
Celera770,484,699 - 70,492,531 (-)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef770,702,967 - 70,710,827 (-)NCBIHuRef
CHM1_1775,546,225 - 75,554,037 (-)NCBICHM1_1
T2T-CHM13v2.0777,274,487 - 77,282,162 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2774,949,219 - 74,957,056 (-)NCBI
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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10737800   PMID:12477932   PMID:16169070   PMID:16341674   PMID:21103663   PMID:21382349   PMID:21873635   PMID:22810586   PMID:22990118   PMID:25288136   PMID:26024229   PMID:26186194  
PMID:26496610   PMID:27173435   PMID:27503909   PMID:28190767   PMID:28298427   PMID:28514442   PMID:29509190   PMID:31527615   PMID:32084332   PMID:32296183   PMID:33961781   PMID:34374645  
PMID:34409941   PMID:34465718   PMID:35013224   PMID:35235791   PMID:36215168   PMID:36420836   PMID:37314216  


Genomics

Comparative Map Data
TMEM120A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38775,986,831 - 75,994,595 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl775,986,831 - 75,994,656 (-)EnsemblGRCh38hg38GRCh38
GRCh37775,616,149 - 75,623,913 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36775,454,243 - 75,461,889 (-)NCBINCBI36Build 36hg18NCBI36
Celera770,484,699 - 70,492,531 (-)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef770,702,967 - 70,710,827 (-)NCBIHuRef
CHM1_1775,546,225 - 75,554,037 (-)NCBICHM1_1
T2T-CHM13v2.0777,274,487 - 77,282,162 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2774,949,219 - 74,957,056 (-)NCBI
Tmem120a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395135,764,344 - 135,773,026 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5135,764,339 - 135,773,302 (-)EnsemblGRCm39 Ensembl
GRCm385135,735,490 - 135,744,172 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5135,735,485 - 135,744,448 (-)EnsemblGRCm38mm10GRCm38
MGSCv375136,211,360 - 136,220,042 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365136,020,117 - 136,028,799 (-)NCBIMGSCv36mm8
Celera5132,742,669 - 132,751,351 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map575.38NCBI
Tmem120a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81226,578,859 - 26,587,524 (+)NCBIGRCr8
mRatBN7.21220,942,243 - 20,950,908 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1220,942,439 - 20,990,316 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1222,083,966 - 22,092,640 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01222,696,400 - 22,705,078 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01221,762,859 - 21,771,533 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01223,989,596 - 23,998,257 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1223,989,596 - 23,998,254 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01225,986,848 - 25,995,509 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41222,069,814 - 22,078,475 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11222,057,077 - 22,065,739 (+)NCBI
Celera1222,704,874 - 22,713,535 (+)NCBICelera
Cytogenetic Map12q12NCBI
Tmem120a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545614,747,621 - 14,754,270 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545614,748,666 - 14,754,270 (-)NCBIChiLan1.0ChiLan1.0
TMEM120A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2693,960,294 - 93,968,798 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17142,224,932 - 142,233,436 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0768,026,666 - 68,034,896 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1782,437,650 - 82,444,882 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl782,437,650 - 82,444,882 (-)Ensemblpanpan1.1panPan2
TMEM120A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.167,316,257 - 7,321,992 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl67,316,477 - 7,389,842 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha69,013,030 - 9,019,258 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.067,137,088 - 7,143,313 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl67,137,263 - 7,210,023 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.167,106,460 - 7,112,688 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.067,069,926 - 7,076,153 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.067,233,166 - 7,239,394 (-)NCBIUU_Cfam_GSD_1.0
Tmem120a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344131,760,568 - 131,766,176 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365432,270,609 - 2,275,679 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365432,270,444 - 2,275,999 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM120A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl310,206,630 - 10,212,610 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1310,206,581 - 10,212,612 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TMEM120A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12810,230,961 - 10,238,325 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2810,231,152 - 10,238,226 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660706,183,818 - 6,191,437 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem120a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474014,790,876 - 14,796,635 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474014,790,876 - 14,796,673 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM120A
34 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11		 pathogenic
GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1 copy number loss See cases [RCV000051302] Chr7:75526437..76499472 [GRCh38]
Chr7:75155767..76128789 [GRCh37]
Chr7:74993703..75966725 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.23(chr7:75567961-76584901)x1 copy number loss See cases [RCV000051303] Chr7:75567961..76584901 [GRCh38]
Chr7:75197265..76214218 [GRCh37]
Chr7:75035201..76052154 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11		 pathogenic
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 7q11.23(chr7:75769688-76066509)x1 copy number loss See cases [RCV000052686] Chr7:75769688..76066509 [GRCh38]
Chr7:75236942..75533763 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 copy number loss See cases [RCV000054111] Chr7:69382353..77823832 [GRCh38]
Chr7:68847339..77453149 [GRCh37]
Chr7:68485275..77291085 [NCBI36]
Chr7:7q11.22-11.23		 pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1 copy number loss See cases [RCV000054153] Chr7:75496701..78375575 [GRCh38]
Chr7:75126024..78004892 [GRCh37]
Chr7:74963960..77842828 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1 copy number loss See cases [RCV000133638] Chr7:73352304..76722261 [GRCh38]
Chr7:72766313..76351578 [GRCh37]
Chr7:72404249..76189514 [NCBI36]
Chr7:7q11.23		 pathogenic
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 7q11.23(chr7:75432651-76418304)x1 copy number loss See cases [RCV000135520] Chr7:75432651..76418304 [GRCh38]
Chr7:75061927..76047621 [GRCh37]
Chr7:74899863..75885557 [NCBI36]
Chr7:7q11.23		 likely pathogenic
GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1 copy number loss See cases [RCV000136113] Chr7:75529854..76611483 [GRCh38]
Chr7:75159180..76240800 [GRCh37]
Chr7:74997116..76078736 [NCBI36]
Chr7:7q11.23		 pathogenic
GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1 copy number loss See cases [RCV000136550] Chr7:75568161..76584760 [GRCh38]
Chr7:75197465..76214077 [GRCh37]
Chr7:75035401..76052013 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3 copy number gain See cases [RCV000135929] Chr7:75529854..76626561 [GRCh38]
Chr7:75159180..76255878 [GRCh37]
Chr7:74997116..76093814 [NCBI36]
Chr7:7q11.23		 uncertain significance
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 copy number loss See cases [RCV000142381] Chr7:74377395..82031742 [GRCh38]
Chr7:73992744..81661058 [GRCh37]
Chr7:73429661..81498994 [NCBI36]
Chr7:7q11.23-21.11		 pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11		 likely pathogenic
GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1 copy number loss See cases [RCV000240532] Chr7:73591993..75914797 [GRCh37]
Chr7:7q11.23		 likely pathogenic
NM_001395413.1(POR):c.*372G>A single nucleotide variant Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [RCV000367992]|not provided [RCV004696034] Chr7:75986853 [GRCh38]
Chr7:75616171 [GRCh37]
Chr7:7q11.23		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7q11.23(chr7:75058408-77082896)x1 copy number loss See cases [RCV000449141] Chr7:75058408..77082896 [GRCh37]
Chr7:7q11.23		 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 7q11.23(chr7:75155154-75729363)x1 copy number loss See cases [RCV000511396] Chr7:75155154..75729363 [GRCh37]
Chr7:7q11.23		 uncertain significance
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
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1 copy number loss See cases [RCV000510782] Chr7:72456604..76007380 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_031925.3(TMEM120A):c.995A>T (p.Lys332Met) single nucleotide variant not specified [RCV004321362] Chr7:75987209 [GRCh38]
Chr7:75616527 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.927G>A (p.Met309Ile) single nucleotide variant not specified [RCV004307487] Chr7:75987277 [GRCh38]
Chr7:75616595 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.643A>G (p.Met215Val) single nucleotide variant not specified [RCV004315373] Chr7:75987971 [GRCh38]
Chr7:75617289 [GRCh37]
Chr7:7q11.23		 uncertain significance
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3		 uncertain significance
GRCh37/hg19 7q11.23(chr7:75384846-76279036)x3 copy number gain not provided [RCV000682872] Chr7:75384846..76279036 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:75085013-75995207)x3 copy number gain not provided [RCV000682874] Chr7:75085013..75995207 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:75082354-76007380)x1 copy number loss not provided [RCV000682875] Chr7:75082354..76007380 [GRCh37]
Chr7:7q11.23		 likely pathogenic
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(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 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 7q11.23(chr7:75536736-75769049)x3 copy number gain not provided [RCV000746818] Chr7:75536736..75769049 [GRCh37]
Chr7:7q11.23		 benign
GRCh37/hg19 7q11.23-21.11(chr7:75588704-80277632)x1 copy number loss not provided [RCV000746819] Chr7:75588704..80277632 [GRCh37]
Chr7:7q11.23-21.11		 pathogenic
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
GRCh37/hg19 7q11.23(chr7:72744494-76038818) copy number loss Williams syndrome [RCV000767638] Chr7:72744494..76038818 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3 copy number gain not provided [RCV000849303] Chr7:75076890..76007283 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:75233243-76007283)x3 copy number gain not provided [RCV000849638] Chr7:75233243..76007283 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:75091878-76117614)x1 copy number loss not provided [RCV000848509] Chr7:75091878..76117614 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.17C>T (p.Pro6Leu) single nucleotide variant not specified [RCV004299461] Chr7:75994554 [GRCh38]
Chr7:75623872 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:75146858-75995207)x3 copy number gain not provided [RCV002473454] Chr7:75146858..75995207 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:75091880-75951903)x3 copy number gain not provided [RCV002472796] Chr7:75091880..75951903 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:75085014-76007380)x1 copy number loss not provided [RCV002472641] Chr7:75085014..76007380 [GRCh37]
Chr7:7q11.23		 likely pathogenic
NC_000007.14:g.75986867T>G single nucleotide variant Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [RCV001162375] Chr7:75986867 [GRCh38]
Chr7:75616185 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_001367562.2(POR):c.*378G>A single nucleotide variant Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [RCV001162374] Chr7:75986859 [GRCh38]
Chr7:75616177 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1 copy number loss not provided [RCV001005967] Chr7:72621722..76007380 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_031925.3(TMEM120A):c.1007A>G (p.Gln336Arg) single nucleotide variant not specified [RCV004684378] Chr7:75987197 [GRCh38]
Chr7:75616515 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1 copy number loss not provided [RCV001258798] Chr7:72403117..76709600 [GRCh37]
Chr7:7q11.23		 pathogenic
GRCh37/hg19 7q11.23(chr7:75591417-75729363)x1 copy number loss not provided [RCV001834348] Chr7:75591417..75729363 [GRCh37]
Chr7:7q11.23		 uncertain significance
NC_000007.14:g.(75058300_?)_(?_79083658)del deletion Distal 7q11.23 microdeletion syndrome [RCV001839073] Chr7:75058300..79083658 [GRCh38]
Chr7:7q11.23-21.11		 pathogenic
NC_000007.13:g.(?_75583311)_(75988125_?)del deletion not provided [RCV001942954] Chr7:75583311..75988125 [GRCh37]
Chr7:7q11.23		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.13:g.(?_75583311)_(75695728_?)dup duplication not provided [RCV003116462] Chr7:75583311..75695728 [GRCh37]
Chr7:7q11.23		 uncertain significance
NC_000007.13:g.(?_75583311)_(75988125_?)dup duplication not provided [RCV003116619] Chr7:75583311..75988125 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.1010G>A (p.Arg337Gln) single nucleotide variant not specified [RCV004684377] Chr7:75987194 [GRCh38]
Chr7:75616512 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.626C>T (p.Thr209Met) single nucleotide variant not specified [RCV004283690] Chr7:75988086 [GRCh38]
Chr7:75617404 [GRCh37]
Chr7:7q11.23		 uncertain significance
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_031925.3(TMEM120A):c.356C>T (p.Thr119Met) single nucleotide variant not specified [RCV004200419] Chr7:75989186 [GRCh38]
Chr7:75618504 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.637G>A (p.Gly213Ser) single nucleotide variant not specified [RCV004189901] Chr7:75987977 [GRCh38]
Chr7:75617295 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.746G>A (p.Arg249Gln) single nucleotide variant not specified [RCV004193935] Chr7:75987756 [GRCh38]
Chr7:75617074 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.1015G>A (p.Gly339Arg) single nucleotide variant not specified [RCV004136720] Chr7:75987189 [GRCh38]
Chr7:75616507 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.394G>A (p.Glu132Lys) single nucleotide variant not specified [RCV004137706] Chr7:75988500 [GRCh38]
Chr7:75617818 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.100C>T (p.Arg34Cys) single nucleotide variant not specified [RCV004235048] Chr7:75992539 [GRCh38]
Chr7:75621857 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.454C>T (p.Arg152Cys) single nucleotide variant not specified [RCV004199294] Chr7:75988440 [GRCh38]
Chr7:75617758 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.238G>A (p.Ala80Thr) single nucleotide variant not specified [RCV004114089] Chr7:75992223 [GRCh38]
Chr7:75621541 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.931G>A (p.Gly311Ser) single nucleotide variant not specified [RCV004084183] Chr7:75987273 [GRCh38]
Chr7:75616591 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.808C>T (p.Arg270Trp) single nucleotide variant not specified [RCV004233571] Chr7:75987579 [GRCh38]
Chr7:75616897 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.727G>A (p.Gly243Ser) single nucleotide variant not specified [RCV004117668] Chr7:75987775 [GRCh38]
Chr7:75617093 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.331C>G (p.Leu111Val) single nucleotide variant not specified [RCV004155001] Chr7:75989211 [GRCh38]
Chr7:75618529 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.208C>T (p.Pro70Ser) single nucleotide variant not specified [RCV004176310] Chr7:75992253 [GRCh38]
Chr7:75621571 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.268C>T (p.Arg90Cys) single nucleotide variant not specified [RCV004101464] Chr7:75992193 [GRCh38]
Chr7:75621511 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.983T>A (p.Val328Asp) single nucleotide variant not specified [RCV004284732] Chr7:75987221 [GRCh38]
Chr7:75616539 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.147C>A (p.Ser49Arg) single nucleotide variant not specified [RCV004252828] Chr7:75992492 [GRCh38]
Chr7:75621810 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.350A>G (p.Asn117Ser) single nucleotide variant not specified [RCV004273999] Chr7:75989192 [GRCh38]
Chr7:75618510 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.140G>A (p.Cys47Tyr) single nucleotide variant not specified [RCV004312830] Chr7:75992499 [GRCh38]
Chr7:75621817 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.69C>A (p.Phe23Leu) single nucleotide variant not specified [RCV004338846] Chr7:75994502 [GRCh38]
Chr7:75623820 [GRCh37]
Chr7:7q11.23		 uncertain significance
GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3 copy number gain not specified [RCV003986700] Chr7:72732819..76003862 [GRCh37]
Chr7:7q11.23		 pathogenic
NM_031925.3(TMEM120A):c.160C>G (p.Gln54Glu) single nucleotide variant not specified [RCV004472851] Chr7:75992479 [GRCh38]
Chr7:75621797 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.212C>T (p.Ser71Phe) single nucleotide variant not specified [RCV004472852] Chr7:75992249 [GRCh38]
Chr7:75621567 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.393C>A (p.Asp131Glu) single nucleotide variant not specified [RCV004472853] Chr7:75988501 [GRCh38]
Chr7:75617819 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.922C>A (p.Leu308Ile) single nucleotide variant not specified [RCV004472856] Chr7:75987282 [GRCh38]
Chr7:75616600 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.533G>A (p.Arg178Gln) single nucleotide variant not specified [RCV004686881] Chr7:75988282 [GRCh38]
Chr7:75617600 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.547A>C (p.Ile183Leu) single nucleotide variant not specified [RCV004472854] Chr7:75988268 [GRCh38]
Chr7:75617586 [GRCh37]
Chr7:7q11.23		 uncertain significance
NM_031925.3(TMEM120A):c.870G>A (p.Ala290=) single nucleotide variant not specified [RCV004472855] Chr7:75987408 [GRCh38]
Chr7:75616726 [GRCh37]
Chr7:7q11.23		 likely benign
NM_031925.3(TMEM120A):c.802A>T (p.Met268Leu) single nucleotide variant not specified [RCV004686882] Chr7:75987585 [GRCh38]
Chr7:75616903 [GRCh37]
Chr7:7q11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5859
Count of miRNA genes:902
Interacting mature miRNAs:1134
Transcripts:ENST00000338761, ENST00000417509, ENST00000431867, ENST00000439537, ENST00000440632, ENST00000460127, ENST00000465494, ENST00000465989, ENST00000480538, ENST00000480899, ENST00000484946, ENST00000485200, ENST00000485581, ENST00000486865, ENST00000490656, ENST00000493111, ENST00000493251
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
406993026GWAS642002_Hsarcoidosis QTL GWAS642002 (human)1e-10sarcoidosis77599359475993595Human
407013812GWAS662788_Hmean platelet volume QTL GWAS662788 (human)6e-32mean platelet volumemean platelet volume (CMO:0001348)77599359475993595Human
407316590GWAS965566_Hopioid use disorder QTL GWAS965566 (human)1e-08conditioned place preference behavior trait (VT:0010723)77599296375992964Human
407017913GWAS666889_Hmean platelet volume QTL GWAS666889 (human)3e-34mean platelet volumemean platelet volume (CMO:0001348)77599359475993595Human

Markers in Region
WI-15388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,625,678 - 75,625,812UniSTSGRCh37
Build 36775,463,614 - 75,463,748RGDNCBI36
Celera770,494,217 - 70,494,351RGD
Cytogenetic Map7q11.23UniSTS
HuRef770,712,513 - 70,712,647UniSTS
CRA_TCAGchr7v2774,958,742 - 74,958,876UniSTS
GeneMap99-GB4 RH Map7426.62UniSTS
Whitehead-RH Map7401.6UniSTS
RH11643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,615,878 - 75,616,122UniSTSGRCh37
Build 36775,453,814 - 75,454,058RGDNCBI36
Celera770,484,422 - 70,484,666RGD
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q11.2UniSTS
HuRef770,702,690 - 70,702,934UniSTS
CRA_TCAGchr7v2774,948,942 - 74,949,186UniSTS
GeneMap99-GB4 RH Map7426.18UniSTS
G62098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,616,047 - 75,616,162UniSTSGRCh37
Build 36775,453,983 - 75,454,098RGDNCBI36
Celera770,484,591 - 70,484,706RGD
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
HuRef770,702,859 - 70,702,974UniSTS
CRA_TCAGchr7v2774,949,111 - 74,949,226UniSTS
D9S1774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,616,306 - 75,616,397UniSTSGRCh37
Build 36775,454,242 - 75,454,333RGDNCBI36
Celera770,484,850 - 70,484,941RGD
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
HuRef770,703,118 - 70,703,209UniSTS
CRA_TCAGchr7v2774,949,370 - 74,949,461UniSTS
RH45086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,616,357 - 75,616,694UniSTSGRCh37
Build 36775,454,293 - 75,454,630RGDNCBI36
Celera770,484,901 - 70,485,238RGD
Cytogenetic Map7q11.23UniSTS
HuRef770,703,169 - 70,703,506UniSTS
CRA_TCAGchr7v2774,949,421 - 74,949,758UniSTS
GeneMap99-GB4 RH Map7426.95UniSTS
MARC_6945-6946:992007577:2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37775,617,041 - 75,617,655UniSTSGRCh37
Build 36775,454,977 - 75,455,591RGDNCBI36
Celera770,485,581 - 70,486,195RGD
HuRef770,703,849 - 70,704,463UniSTS
CRA_TCAGchr7v2774,950,105 - 74,950,719UniSTS


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF327923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI806931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL522284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI049925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM740069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX869634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB460719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000417509   ⟹   ENSP00000480803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,986,983 - 75,994,616 (-)Ensembl
Ensembl Acc Id: ENST00000431867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,987,542 - 75,994,556 (-)Ensembl
Ensembl Acc Id: ENST00000439537   ⟹   ENSP00000484736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,986,985 - 75,994,574 (-)Ensembl
Ensembl Acc Id: ENST00000440632   ⟹   ENSP00000481336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,987,041 - 75,994,656 (-)Ensembl
Ensembl Acc Id: ENST00000460127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,986,992 - 75,987,535 (-)Ensembl
Ensembl Acc Id: ENST00000465494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,987,927 - 75,992,282 (-)Ensembl
Ensembl Acc Id: ENST00000465989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,987,442 - 75,987,978 (-)Ensembl
Ensembl Acc Id: ENST00000480538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,988,036 - 75,992,527 (-)Ensembl
Ensembl Acc Id: ENST00000480899   ⟹   ENSP00000479079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,987,150 - 75,989,178 (-)Ensembl
Ensembl Acc Id: ENST00000484946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,986,985 - 75,987,668 (-)Ensembl
Ensembl Acc Id: ENST00000485200   ⟹   ENSP00000482497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,988,130 - 75,994,638 (-)Ensembl
Ensembl Acc Id: ENST00000486865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,988,203 - 75,988,587 (-)Ensembl
Ensembl Acc Id: ENST00000490656   ⟹   ENSP00000482622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,986,985 - 75,988,320 (-)Ensembl
Ensembl Acc Id: ENST00000493111   ⟹   ENSP00000473983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,986,831 - 75,994,595 (-)Ensembl
Ensembl Acc Id: ENST00000493251   ⟹   ENSP00000480239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl775,986,989 - 75,988,211 (-)Ensembl
RefSeq Acc Id: NM_001317803   ⟹   NP_001304732
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38775,986,831 - 75,994,595 (-)NCBI
CHM1_1775,546,225 - 75,554,037 (-)NCBI
T2T-CHM13v2.0777,274,487 - 77,282,162 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363462   ⟹   NP_001350391
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38775,986,831 - 75,994,595 (-)NCBI
T2T-CHM13v2.0777,274,487 - 77,282,162 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031925   ⟹   NP_114131
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38775,986,831 - 75,994,595 (-)NCBI
GRCh37775,616,155 - 75,623,992 (-)RGD
Build 36775,454,243 - 75,461,889 (-)NCBI Archive
Celera770,484,699 - 70,492,531 (-)RGD
HuRef770,702,967 - 70,710,827 (-)RGD
CHM1_1775,546,225 - 75,554,037 (-)NCBI
T2T-CHM13v2.0777,274,487 - 77,282,162 (-)NCBI
CRA_TCAGchr7v2774,949,219 - 74,957,056 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_156695
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38775,986,831 - 75,994,595 (-)NCBI
T2T-CHM13v2.0777,274,487 - 77,282,162 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420919   ⟹   XP_047276875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38775,986,831 - 75,994,595 (-)NCBI
RefSeq Acc Id: XM_054359169   ⟹   XP_054215144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0777,274,487 - 77,282,162 (-)NCBI
RefSeq Acc Id: NP_114131   ⟸   NM_031925
- Peptide Label: isoform 1
- UniProtKB: Q86TE9 (UniProtKB/Swiss-Prot),   Q8N6P1 (UniProtKB/Swiss-Prot),   Q9BXJ8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304732   ⟸   NM_001317803
- Peptide Label: isoform 2
- UniProtKB: A0A087X266 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350391   ⟸   NM_001363462
- Peptide Label: isoform 3
- UniProtKB: A0A024R4K9 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000484736   ⟸   ENST00000439537
Ensembl Acc Id: ENSP00000482622   ⟸   ENST00000490656
Ensembl Acc Id: ENSP00000473983   ⟸   ENST00000493111
Ensembl Acc Id: ENSP00000480239   ⟸   ENST00000493251
Ensembl Acc Id: ENSP00000481336   ⟸   ENST00000440632
Ensembl Acc Id: ENSP00000479079   ⟸   ENST00000480899
Ensembl Acc Id: ENSP00000480803   ⟸   ENST00000417509
Ensembl Acc Id: ENSP00000482497   ⟸   ENST00000485200
RefSeq Acc Id: XP_047276875   ⟸   XM_047420919
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054215144   ⟸   XM_054359169
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXJ8-F1-model_v2 AlphaFold Q9BXJ8 1-343 view protein structure

Promoters
RGD ID:6806302
Promoter ID:HG_KWN:58154
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000344893,   OTTHUMT00000344894,   OTTHUMT00000344895,   OTTHUMT00000344896,   OTTHUMT00000344897,   OTTHUMT00000344898,   OTTHUMT00000344899,   UC003UEB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36775,454,811 - 75,455,432 (-)MPROMDB
RGD ID:6806285
Promoter ID:HG_KWN:58155
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:OTTHUMT00000344890,   OTTHUMT00000344891,   OTTHUMT00000344892
Position:
Human AssemblyChrPosition (strand)Source
Build 36775,459,161 - 75,459,661 (-)MPROMDB
RGD ID:6806301
Promoter ID:HG_KWN:58156
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000344834,   OTTHUMT00000344836,   OTTHUMT00000344887,   OTTHUMT00000344888,   OTTHUMT00000344889,   UC003UEC.1,   UC003UED.1,   UC003UEE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36775,461,761 - 75,462,261 (-)MPROMDB
RGD ID:7210853
Promoter ID:EPDNEW_H11172
Type:initiation region
Name:TMEM120A_1
Description:transmembrane protein 120A
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
GRCh38775,994,595 - 75,994,655EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21697 AgrOrtholog
COSMIC TMEM120A COSMIC
Ensembl Genes ENSG00000189077 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000417509.5 UniProtKB/TrEMBL
  ENST00000439537 ENTREZGENE
  ENST00000439537.5 UniProtKB/TrEMBL
  ENST00000440632 ENTREZGENE
  ENST00000440632.5 UniProtKB/TrEMBL
  ENST00000480899.5 UniProtKB/TrEMBL
  ENST00000485200.1 UniProtKB/TrEMBL
  ENST00000490656.5 UniProtKB/TrEMBL
  ENST00000493111 ENTREZGENE
  ENST00000493111.7 UniProtKB/Swiss-Prot
  ENST00000493251.5 UniProtKB/TrEMBL
GTEx ENSG00000189077 GTEx
HGNC ID HGNC:21697 ENTREZGENE
Human Proteome Map TMEM120A Human Proteome Map
InterPro TMPIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83862 UniProtKB/Swiss-Prot
NCBI Gene 83862 ENTREZGENE
OMIM 616550 OMIM
PANTHER ION CHANNEL TACAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21433 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TMPIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162405861 PharmGKB
UniProt A0A024R4K9 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WV11_HUMAN UniProtKB/TrEMBL
  A0A087WWH9_HUMAN UniProtKB/TrEMBL
  A0A087WZA9_HUMAN UniProtKB/TrEMBL
  A0A087WZF4_HUMAN UniProtKB/TrEMBL
  A0A087X266 ENTREZGENE, UniProtKB/TrEMBL
  Q86TE9 ENTREZGENE
  Q8N6P1 ENTREZGENE
  Q9BXJ8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q86TE9 UniProtKB/Swiss-Prot
  Q8N6P1 UniProtKB/Swiss-Prot