TM6SF2 (transmembrane 6 superfamily member 2) - Rat Genome Database

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Gene: TM6SF2 (transmembrane 6 superfamily member 2) Homo sapiens
Analyze
Symbol: TM6SF2
Name: transmembrane 6 superfamily member 2
RGD ID: 1318158
HGNC Page HGNC:11861
Description: Enables identical protein binding activity. Involved in regulation of lipid metabolic process. Located in endoplasmic reticulum membrane and endoplasmic reticulum-Golgi intermediate compartment membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA1926
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381919,264,366 - 19,273,301 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1919,264,364 - 19,273,391 (-)EnsemblGRCh38hg38GRCh38
GRCh371919,375,175 - 19,384,110 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361919,236,174 - 19,245,074 (-)NCBINCBI36Build 36hg18NCBI36
Build 341919,236,173 - 19,245,074NCBI
Celera1919,279,244 - 19,288,141 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,938,925 - 18,947,810 (-)NCBIHuRef
CHM1_11919,375,938 - 19,384,840 (-)NCBICHM1_1
T2T-CHM13v2.01919,401,816 - 19,410,753 (-)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. 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:11124529   PMID:11572484   PMID:12477932   PMID:14702039   PMID:15057824   PMID:16344560   PMID:21873635   PMID:23974872   PMID:24531328   PMID:24633158   PMID:24824280   PMID:24927523  
PMID:24978903   PMID:25056061   PMID:25251399   PMID:25302781   PMID:25457209   PMID:25581573   PMID:25639710   PMID:25687425   PMID:25820484   PMID:25893821   PMID:26259026   PMID:26272871  
PMID:26331730   PMID:26457389   PMID:26482880   PMID:26493626   PMID:26520056   PMID:26610348   PMID:26745555   PMID:26756786   PMID:26774178   PMID:26822232   PMID:26847197   PMID:27278285  
PMID:27411039   PMID:27784963   PMID:27836992   PMID:28235613   PMID:28242789   PMID:28362682   PMID:28407767   PMID:28434889   PMID:28436986   PMID:28449094   PMID:28539357   PMID:28950858  
PMID:29122391   PMID:29193269   PMID:29493856   PMID:29535416   PMID:29574608   PMID:29577560   PMID:29648650   PMID:30161167   PMID:30289982   PMID:30506232   PMID:30572387   PMID:30710115  
PMID:30727943   PMID:30824369   PMID:30859582   PMID:30875804   PMID:30929342   PMID:31054977   PMID:31255630   PMID:31309745   PMID:31356578   PMID:31392879   PMID:31406127   PMID:31752753  
PMID:31851849   PMID:31923913   PMID:32093693   PMID:32190914   PMID:32296183   PMID:32525256   PMID:32776921   PMID:33170809   PMID:33179077   PMID:33565643   PMID:33622266   PMID:33685085  
PMID:33961781   PMID:34076851   PMID:34131090   PMID:34490745   PMID:34575933   PMID:34823063   PMID:34876018   PMID:35057689   PMID:35143946   PMID:36028802   PMID:36403577   PMID:36804832  
PMID:36863929   PMID:36904112   PMID:37400794   PMID:37495452   PMID:37589914  


Genomics

Comparative Map Data
TM6SF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381919,264,366 - 19,273,301 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1919,264,364 - 19,273,391 (-)EnsemblGRCh38hg38GRCh38
GRCh371919,375,175 - 19,384,110 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361919,236,174 - 19,245,074 (-)NCBINCBI36Build 36hg18NCBI36
Build 341919,236,173 - 19,245,074NCBI
Celera1919,279,244 - 19,288,141 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,938,925 - 18,947,810 (-)NCBIHuRef
CHM1_11919,375,938 - 19,384,840 (-)NCBICHM1_1
T2T-CHM13v2.01919,401,816 - 19,410,753 (-)NCBIT2T-CHM13v2.0
Tm6sf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39870,525,574 - 70,532,716 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl870,525,574 - 70,532,716 (+)EnsemblGRCm39 Ensembl
GRCm38870,072,924 - 70,080,066 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,072,924 - 70,080,066 (+)EnsemblGRCm38mm10GRCm38
MGSCv37872,596,831 - 72,603,951 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36873,001,921 - 73,009,041 (+)NCBIMGSCv36mm8
Celera872,632,982 - 72,640,172 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map834.15NCBI
Tm6sf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81619,378,148 - 19,385,360 (-)NCBIGRCr8
mRatBN7.21619,344,218 - 19,351,431 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1619,344,222 - 19,351,431 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1619,384,158 - 19,391,372 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01620,516,078 - 20,523,290 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01619,437,130 - 19,444,345 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01621,092,483 - 21,099,695 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1621,092,308 - 21,099,878 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01620,941,990 - 20,949,202 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41619,827,481 - 19,834,693 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1619,532,903 - 19,540,115 (-)NCBICelera
Cytogenetic Map16p14NCBI
Tm6sf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555242,585,797 - 2,593,105 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555242,586,201 - 2,593,123 (+)NCBIChiLan1.0ChiLan1.0
TM6SF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22024,125,632 - 24,136,157 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11923,131,933 - 23,142,441 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01918,703,075 - 18,712,056 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11919,706,235 - 19,715,099 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1919,706,235 - 19,715,096 (-)Ensemblpanpan1.1panPan2
TM6SF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12043,925,469 - 43,932,532 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2043,925,558 - 43,931,987 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2043,842,601 - 43,849,659 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02044,413,374 - 44,420,431 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2044,413,381 - 44,420,431 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12043,650,880 - 43,657,935 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02044,060,491 - 44,067,548 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02044,335,781 - 44,342,843 (+)NCBIUU_Cfam_GSD_1.0
Tm6sf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118202,618,140 - 202,625,079 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365962,167,273 - 2,174,266 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365962,167,285 - 2,174,211 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HAPLN4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl258,617,205 - 58,626,805 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1258,617,210 - 58,627,785 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TM6SF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1617,730,273 - 17,740,557 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl617,729,925 - 17,740,006 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660741,567,892 - 1,577,300 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tm6sf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249082,136,747 - 2,143,560 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249082,136,563 - 2,143,574 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TM6SF2
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
NM_001001524.2(TM6SF2):c.753C>T (p.Ile251=) single nucleotide variant Malignant melanoma [RCV000072025] Chr19:19267672 [GRCh38]
Chr19:19378481 [GRCh37]
Chr19:19239481 [NCBI36]
Chr19:19p13.11		 not provided
NM_001001524.2(TM6SF2):c.650C>T (p.Ala217Val) single nucleotide variant Malignant melanoma [RCV000072026] Chr19:19268047 [GRCh38]
Chr19:19378856 [GRCh37]
Chr19:19239856 [NCBI36]
Chr19:19p13.11		 not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12		 pathogenic|likely pathogenic
chr19:19230868-24115369 complex variant complex Breast ductal adenocarcinoma [RCV000207223] Chr19:19230868..24115369 [GRCh37]
Chr19:19p13.11-12		 uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_001001524.3(TM6SF2):c.236T>G (p.Leu79Arg) single nucleotide variant Inborn genetic diseases [RCV003304674] Chr19:19270406 [GRCh38]
Chr19:19381215 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001001524.3(TM6SF2):c.5A>G (p.Asp2Gly) single nucleotide variant Inborn genetic diseases [RCV003245180] Chr19:19273211 [GRCh38]
Chr19:19384020 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.412C>T (p.Arg138Trp) single nucleotide variant not provided [RCV000879360] Chr19:19269759 [GRCh38]
Chr19:19380568 [GRCh37]
Chr19:19p13.11		 benign
GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3 copy number gain not provided [RCV000849581] Chr19:19230490..19440304 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.899T>C (p.Leu300Ser) single nucleotide variant Inborn genetic diseases [RCV003245640] Chr19:19266515 [GRCh38]
Chr19:19377324 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.413G>A (p.Arg138Gln) single nucleotide variant Inborn genetic diseases [RCV003290298] Chr19:19269758 [GRCh38]
Chr19:19380567 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.96-6C>G single nucleotide variant not provided [RCV000950844] Chr19:19271131 [GRCh38]
Chr19:19381940 [GRCh37]
Chr19:19p13.11		 benign
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12		 pathogenic
NM_001001524.3(TM6SF2):c.314G>A (p.Arg105His) single nucleotide variant Inborn genetic diseases [RCV002749552] Chr19:19270260 [GRCh38]
Chr19:19381069 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3 copy number gain not provided [RCV002475626] Chr19:19218464..19494045 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.920G>A (p.Gly307Asp) single nucleotide variant Inborn genetic diseases [RCV002981728]|not provided [RCV003410228] Chr19:19266494 [GRCh38]
Chr19:19377303 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.704G>A (p.Arg235Gln) single nucleotide variant Inborn genetic diseases [RCV002644775] Chr19:19267993 [GRCh38]
Chr19:19378802 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.56C>T (p.Pro19Leu) single nucleotide variant Inborn genetic diseases [RCV002744550] Chr19:19273160 [GRCh38]
Chr19:19383969 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.901G>T (p.Val301Leu) single nucleotide variant Inborn genetic diseases [RCV002789460] Chr19:19266513 [GRCh38]
Chr19:19377322 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.22G>A (p.Gly8Ser) single nucleotide variant Inborn genetic diseases [RCV002764077] Chr19:19273194 [GRCh38]
Chr19:19384003 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.172G>A (p.Glu58Lys) single nucleotide variant Inborn genetic diseases [RCV002645267] Chr19:19271049 [GRCh38]
Chr19:19381858 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.1000G>A (p.Gly334Ser) single nucleotide variant Inborn genetic diseases [RCV002680535] Chr19:19264798 [GRCh38]
Chr19:19375607 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.49G>A (p.Ala17Thr) single nucleotide variant Inborn genetic diseases [RCV003204693] Chr19:19273167 [GRCh38]
Chr19:19383976 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.565G>T (p.Val189Phe) single nucleotide variant Inborn genetic diseases [RCV003343524] Chr19:19268674 [GRCh38]
Chr19:19379483 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.953T>C (p.Met318Thr) single nucleotide variant Inborn genetic diseases [RCV003346143] Chr19:19264845 [GRCh38]
Chr19:19375654 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.325G>A (p.Gly109Arg) single nucleotide variant Inborn genetic diseases [RCV003363614] Chr19:19270249 [GRCh38]
Chr19:19381058 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_001001524.3(TM6SF2):c.444C>T (p.Phe148=) single nucleotide variant not provided [RCV003415159] Chr19:19269727 [GRCh38]
Chr19:19380536 [GRCh37]
Chr19:19p13.11		 likely benign
NM_001001524.3(TM6SF2):c.149C>T (p.Ala50Val) single nucleotide variant not provided [RCV003415160] Chr19:19271072 [GRCh38]
Chr19:19381881 [GRCh37]
Chr19:19p13.11		 likely benign
GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1 copy number loss not specified [RCV003986109] Chr19:18926463..21100330 [GRCh37]
Chr19:19p13.11-12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1561
Count of miRNA genes:587
Interacting mature miRNAs:666
Transcripts:ENST00000389363, ENST00000431465, ENST00000586107, ENST00000590431, ENST00000591001
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
TM6SF2_9766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,375,155 - 19,375,644UniSTSGRCh37
Build 361919,236,155 - 19,236,644RGDNCBI36
Celera1919,279,225 - 19,279,714RGD
HuRef1918,938,906 - 18,939,395UniSTS
D19S1164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371919,376,084 - 19,376,342UniSTSGRCh37
Build 361919,237,084 - 19,237,342RGDNCBI36
Celera1919,280,154 - 19,280,412RGD
Cytogenetic Map19p13.3-p12UniSTS
HuRef1918,939,835 - 18,940,093UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 186 331 325 125 325 2 6 25 12
Low 1681 1601 844 192 170 113 2270 853 2608 258 991 1050 82 757 1269 1
Below cutoff 490 1000 505 101 662 21 1964 1229 1075 67 387 432 83 442 1435 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000389363   ⟹   ENSP00000374014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,264,366 - 19,273,301 (-)Ensembl
RefSeq Acc Id: ENST00000431465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,264,365 - 19,273,265 (-)Ensembl
RefSeq Acc Id: ENST00000586107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,268,685 - 19,273,391 (-)Ensembl
RefSeq Acc Id: ENST00000590431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,264,364 - 19,266,716 (-)Ensembl
RefSeq Acc Id: ENST00000591001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1919,264,364 - 19,273,256 (-)Ensembl
RefSeq Acc Id: NM_001001524   ⟹   NP_001001524
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381919,264,366 - 19,273,301 (-)NCBI
GRCh371919,374,841 - 19,384,074 (-)NCBI
Build 361919,236,174 - 19,245,074 (-)NCBI Archive
Celera1919,279,244 - 19,288,141 (-)RGD
HuRef1918,938,925 - 18,947,810 (-)RGD
CHM1_11919,375,938 - 19,384,840 (-)NCBI
T2T-CHM13v2.01919,401,816 - 19,410,753 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001001524   ⟸   NM_001001524
- UniProtKB: Q0IJ64 (UniProtKB/Swiss-Prot),   Q9BZW4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000374014   ⟸   ENST00000389363
Protein Domains
EXPERA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BZW4-F1-model_v2 AlphaFold Q9BZW4 1-377 view protein structure

Promoters
RGD ID:6811796
Promoter ID:HG_ACW:40590
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:TM6SF2ANDHAPLN4.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361919,233,091 - 19,233,591 (-)MPROMDB
RGD ID:7239237
Promoter ID:EPDNEW_H25364
Type:initiation region
Name:TM6SF2_1
Description:transmembrane 6 superfamily member 2
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
GRCh381919,273,301 - 19,273,361EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11861 AgrOrtholog
COSMIC TM6SF2 COSMIC
Ensembl Genes ENSG00000213996 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000389363 ENTREZGENE
  ENST00000389363.5 UniProtKB/Swiss-Prot
GTEx ENSG00000213996 GTEx
HGNC ID HGNC:11861 ENTREZGENE
Human Proteome Map TM6SF2 Human Proteome Map
InterPro EXPERA UniProtKB/Swiss-Prot
  TM6SF1-like UniProtKB/Swiss-Prot
KEGG Report hsa:53345 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 53345 ENTREZGENE
OMIM 606563 OMIM
PANTHER TRANSMEMBRANE 6 SUPERFAMILY MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSMEMBRANE SUPERFAMILY 6 MEMBER 1/2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EBP UniProtKB/Swiss-Prot
PharmGKB PA36562 PharmGKB
PROSITE EXPERA UniProtKB/Swiss-Prot
UniProt Q0IJ64 ENTREZGENE
  Q8N8A7_HUMAN UniProtKB/TrEMBL
  Q9BZW4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q0IJ64 UniProtKB/Swiss-Prot