TCEA2 (transcription elongation factor A2) - Rat Genome Database

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Gene: TCEA2 (transcription elongation factor A2) Homo sapiens
Analyze
Symbol: TCEA2
Name: transcription elongation factor A2
RGD ID: 731353
HGNC Page HGNC:11614
Description: Predicted to enable DNA binding activity; translation elongation factor activity; and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in centrosome and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: testis-specific S-II; TFIIS; transcription elongation factor A (SII), 2; transcription elongation factor A protein 2; transcription elongation factor S-II protein 2; transcription elongation factor TFIIS.1; transcription elongation factor TFIIS.l
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
GRCh382064,055,596 - 64,072,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2064,049,836 - 64,072,347 (+)EnsemblGRCh38hg38GRCh38
GRCh372062,688,325 - 62,703,700 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362062,158,883 - 62,174,143 (+)NCBINCBI36Build 36hg18NCBI36
Build 342062,158,882 - 62,174,144NCBI
Celera2059,374,545 - 59,389,785 (+)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2059,422,225 - 59,437,466 (+)NCBIHuRef
CHM1_12062,589,462 - 62,604,716 (+)NCBICHM1_1
T2T-CHM13v2.02065,875,622 - 65,892,426 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Control of transcriptional elongation. Kwak H and Lis JT, Annu Rev Genet. 2013;47:483-508. doi: 10.1146/annurev-genet-110711-155440. Epub 2013 Sep 11.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1559613   PMID:8566795   PMID:9441762   PMID:9765201   PMID:11709559   PMID:11780052   PMID:12034815   PMID:12392551   PMID:12477932   PMID:12761297   PMID:12943681   PMID:14702039  
PMID:15489334   PMID:15507123   PMID:16169070   PMID:16189514   PMID:16214896   PMID:17374514   PMID:17643375   PMID:18029348   PMID:21516116   PMID:21832049   PMID:21873635   PMID:21988832  
PMID:22939629   PMID:24623722   PMID:25184681   PMID:25416956   PMID:25436638   PMID:26496610   PMID:26760575   PMID:29513927   PMID:31515488   PMID:31980649   PMID:32296183   PMID:33961781  
PMID:34349018   PMID:35256949   PMID:35944360   PMID:36273042   PMID:36373674   PMID:36949045  


Genomics

Comparative Map Data
TCEA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382064,055,596 - 64,072,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2064,049,836 - 64,072,347 (+)EnsemblGRCh38hg38GRCh38
GRCh372062,688,325 - 62,703,700 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362062,158,883 - 62,174,143 (+)NCBINCBI36Build 36hg18NCBI36
Build 342062,158,882 - 62,174,144NCBI
Celera2059,374,545 - 59,389,785 (+)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2059,422,225 - 59,437,466 (+)NCBIHuRef
CHM1_12062,589,462 - 62,604,716 (+)NCBICHM1_1
T2T-CHM13v2.02065,875,622 - 65,892,426 (+)NCBIT2T-CHM13v2.0
Tcea2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392181,322,090 - 181,329,860 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2181,322,103 - 181,329,864 (+)EnsemblGRCm39 Ensembl
GRCm382181,680,297 - 181,688,067 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2181,680,310 - 181,688,071 (+)EnsemblGRCm38mm10GRCm38
MGSCv372181,415,015 - 181,422,756 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362181,609,716 - 181,617,457 (+)NCBIMGSCv36mm8
Celera2185,762,702 - 185,770,433 (+)NCBICelera
Cytogenetic Map2H4NCBI
cM Map2103.72NCBI
Tcea2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83189,173,756 - 189,181,633 (+)NCBIGRCr8
mRatBN7.23168,796,244 - 168,804,125 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3168,796,331 - 168,804,116 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3173,175,741 - 173,183,550 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03182,134,832 - 182,142,641 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03178,797,259 - 178,805,065 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03177,187,686 - 177,195,898 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3177,188,044 - 177,195,894 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03180,896,548 - 180,904,402 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43170,831,286 - 170,839,091 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13170,737,321 - 170,745,127 (+)NCBI
Celera3163,783,634 - 163,791,446 (-)NCBICelera
Cytogenetic Map3q43NCBI
Tcea2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955528186,642 - 194,058 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955528186,642 - 194,058 (-)NCBIChiLan1.0ChiLan1.0
TCEA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22169,880,980 - 69,890,213 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12069,873,001 - 69,882,229 (+)NCBINHGRI_mPanPan1
PanPan1.12061,977,338 - 61,986,592 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2061,976,869 - 61,986,592 (+)Ensemblpanpan1.1panPan2
TCEA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12447,508,161 - 47,512,399 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2447,508,136 - 47,537,250 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2446,639,396 - 46,646,271 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02448,644,476 - 48,651,329 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12447,489,097 - 47,495,956 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02447,613,543 - 47,620,400 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02448,352,514 - 48,359,386 (+)NCBIUU_Cfam_GSD_1.0
Tcea2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640195,789,352 - 195,796,792 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651411,242,739 - 11,250,260 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651411,243,021 - 11,251,216 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TCEA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1762,866,377 - 62,888,787 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11762,866,594 - 62,888,790 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TCEA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12174,158 - 184,237 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2174,134 - 182,943 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605047,607,379 - 47,629,161 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tcea2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474129,692,006 - 29,699,383 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474129,691,983 - 29,699,383 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TCEA2
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 copy number gain Global developmental delay [RCV000051131]|See cases [RCV000051131] Chr20:63199020..64277321 [GRCh38]
Chr20:61830372..62908674 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3 copy number gain See cases [RCV000050998] Chr20:63827808..64100279 [GRCh38]
Chr20:62459161..62731632 [GRCh37]
Chr20:61929605..62202076 [NCBI36]
Chr20:20q13.33
uncertain significance
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 copy number loss See cases [RCV000052769] Chr20:62545370..64241486 [GRCh38]
Chr20:61142577..62872839 [GRCh37]
Chr20:60553022..62343283 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:63441478-64277321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]|See cases [RCV000052772] Chr20:63441478..64277321 [GRCh38]
Chr20:62072831..62908674 [GRCh37]
Chr20:61543275..62379118 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_198723.1(TCEA2):c.222G>A (p.Arg74=) single nucleotide variant Malignant melanoma [RCV000072764] Chr20:64068108 [GRCh38]
Chr20:62699461 [GRCh37]
Chr20:62169905 [NCBI36]
Chr20:20q13.33
not provided
NM_001039467.1(RGS19):c.147C>T (p.Cys49=) single nucleotide variant Malignant melanoma [RCV000063799] Chr20:64076530 [GRCh38]
Chr20:62707883 [GRCh37]
Chr20:62178327 [NCBI36]
Chr20:20q13.33
not provided
NM_198723.1(TCEA2):c.-244G>T single nucleotide variant Lung cancer [RCV000101739] Chr20:64057491 [GRCh38]
Chr20:62688844 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 copy number gain See cases [RCV000051131] Chr20:63199020..64277321 [GRCh38]
Chr20:61830372..62908674 [GRCh37]
Chr20:61300817..62379118 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1 copy number loss See cases [RCV000133842] Chr20:62561794..64277321 [GRCh38]
Chr20:61211869..62908674 [GRCh37]
Chr20:60569446..62379118 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 copy number gain See cases [RCV000135805] Chr20:59041966..64277321 [GRCh38]
Chr20:57617021..62908674 [GRCh37]
Chr20:57050416..62379118 [NCBI36]
Chr20:20q13.32-13.33
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1 copy number loss See cases [RCV000135514] Chr20:63199020..64277321 [GRCh38]
Chr20:61830372..62908674 [GRCh37]
Chr20:61300817..62379118 [NCBI36]
Chr20:20q13.33
likely pathogenic
GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1 copy number loss See cases [RCV000136499] Chr20:64023324..64261777 [GRCh38]
Chr20:62654677..62893130 [GRCh37]
Chr20:62125121..62363574 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1 copy number loss See cases [RCV000137385] Chr20:63153963..64277321 [GRCh38]
Chr20:61785315..62908674 [GRCh37]
Chr20:61255760..62379118 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 copy number gain See cases [RCV000139100] Chr20:61326549..64277326 [GRCh38]
Chr20:59901605..62908679 [GRCh37]
Chr20:59335000..62379123 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1 copy number loss See cases [RCV000141744] Chr20:62582073..64284202 [GRCh38]
Chr20:61179280..62915555 [GRCh37]
Chr20:60589725..62385999 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3 copy number gain See cases [RCV000141762] Chr20:63385523..64270639 [GRCh38]
Chr20:62016875..62901992 [GRCh37]
Chr20:61487319..62372436 [NCBI36]
Chr20:20q13.33
uncertain significance
GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1 copy number loss See cases [RCV000141676] Chr20:62663307..64284202 [GRCh38]
Chr20:61294659..62915555 [GRCh37]
Chr20:60765104..62385999 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33
likely pathogenic
GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1 copy number loss See cases [RCV000240214] Chr20:61827144..62907526 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1 copy number loss not provided [RCV000488148] Chr20:61337529..62904501 [GRCh37]
Chr20:20q13.33
likely pathogenic
GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1 copy number loss See cases [RCV000446096] Chr20:61827144..62907467 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:62662139-62714797)x1 copy number loss See cases [RCV000447557] Chr20:62662139..62714797 [GRCh37]
Chr20:20q13.33
likely pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3 copy number gain See cases [RCV000446009] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1 copy number loss See cases [RCV000510189] Chr20:61884113..62915555 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33
likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_003195.6(TCEA2):c.442G>A (p.Ala148Thr) single nucleotide variant not specified [RCV004300234] Chr20:64069473 [GRCh38]
Chr20:62700826 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20q13.33(chr20:62603908-62857300)x1 copy number loss See cases [RCV000512532] Chr20:62603908..62857300 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1 copy number loss not provided [RCV000684123] Chr20:62090403..62915555 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1 copy number loss not provided [RCV000684126] Chr20:62002369..62915555 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3 copy number gain not provided [RCV000741328] Chr20:60053234..62961294 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3 copy number gain not provided [RCV000741329] Chr20:60063645..62961294 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_003195.6(TCEA2):c.467A>G (p.His156Arg) single nucleotide variant not specified [RCV004291302] Chr20:64069771 [GRCh38]
Chr20:62701124 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003195.6(TCEA2):c.389C>T (p.Pro130Leu) single nucleotide variant not specified [RCV004331133] Chr20:64069420 [GRCh38]
Chr20:62700773 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003195.6(TCEA2):c.857T>A (p.Phe286Tyr) single nucleotide variant not specified [RCV004298901] Chr20:64071907 [GRCh38]
Chr20:62703260 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 copy number gain not provided [RCV001537917] Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33
pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 copy number gain not provided [RCV001007098] Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1 copy number loss not provided [RCV001007103] Chr20:61152321..62915555 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:62678394-62884479)x3 copy number gain not provided [RCV001007105] Chr20:62678394..62884479 [GRCh37]
Chr20:20q13.33
likely benign|uncertain significance
GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1 copy number loss not provided [RCV001258914] Chr20:61975605..62915555 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:62576747-62915555)x3 copy number gain not provided [RCV001258915] Chr20:62576747..62915555 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20q13.33(chr20:61273854-62907579) copy number loss Seizures, benign familial neonatal, 1 [RCV001786556] Chr20:61273854..62907579 [GRCh37]
Chr20:20q13.33
likely pathogenic
GRCh37/hg19 20q13.33(chr20:61038552-62907579) copy number loss Seizures, benign familial neonatal, 1 [RCV001786557] Chr20:61038552..62907579 [GRCh37]
Chr20:20q13.33
likely pathogenic
GRCh37/hg19 20q13.33(chr20:61619222-62915555) copy number loss not specified [RCV002052718] Chr20:61619222..62915555 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:61003263-62915555) copy number loss not specified [RCV002052717] Chr20:61003263..62915555 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1 copy number loss not provided [RCV001834246] Chr20:61775756..62915555 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555) copy number gain not specified [RCV002052714] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) copy number gain not specified [RCV002052713] Chr20:56835739..62915555 [GRCh37]
Chr20:20q13.32-13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3 copy number gain not provided [RCV002473575] Chr20:60621074..62915555 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003195.6(TCEA2):c.751A>G (p.Thr251Ala) single nucleotide variant not specified [RCV004204232] Chr20:64070567 [GRCh38]
Chr20:62701920 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003195.6(TCEA2):c.469G>A (p.Val157Met) single nucleotide variant not specified [RCV004199339] Chr20:64069773 [GRCh38]
Chr20:62701126 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003195.6(TCEA2):c.107C>G (p.Ala36Gly) single nucleotide variant not specified [RCV004226361] Chr20:64066510 [GRCh38]
Chr20:62697863 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003195.6(TCEA2):c.332G>T (p.Arg111Leu) single nucleotide variant not specified [RCV004155281] Chr20:64069363 [GRCh38]
Chr20:62700716 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003195.6(TCEA2):c.307G>A (p.Ala103Thr) single nucleotide variant not specified [RCV004287291] Chr20:64068112 [GRCh38]
Chr20:62699465 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 copy number gain See cases [RCV003329549] Chr20:52773668..62965020 [GRCh37]
Chr20:20q13.2-13.33
uncertain significance
NM_003195.6(TCEA2):c.94C>T (p.Arg32Trp) single nucleotide variant not specified [RCV004362551] Chr20:64066497 [GRCh38]
Chr20:62697850 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1 copy number loss not provided [RCV003483370] Chr20:62347562..62915555 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3 copy number gain not provided [RCV003485217] Chr20:61986902..62690224 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003195.6(TCEA2):c.510C>G (p.Ile170Met) single nucleotide variant not specified [RCV004466373] Chr20:64069814 [GRCh38]
Chr20:62701167 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003195.6(TCEA2):c.336G>T (p.Lys112Asn) single nucleotide variant not specified [RCV004466372] Chr20:64069367 [GRCh38]
Chr20:62700720 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135) copy number gain 20q13.13qter duplication [RCV004555205] Chr20:50805746..64334135 [GRCh38]
Chr20:20q13.13-13.33
pathogenic
NM_003195.6(TCEA2):c.269G>A (p.Arg90Gln) single nucleotide variant not specified [RCV004466370] Chr20:64068074 [GRCh38]
Chr20:62699427 [GRCh37]
Chr20:20q13.33
likely benign
NM_003195.6(TCEA2):c.752C>A (p.Thr251Asn) single nucleotide variant not specified [RCV004673598] Chr20:64070568 [GRCh38]
Chr20:62701921 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003195.6(TCEA2):c.293C>T (p.Thr98Met) single nucleotide variant not specified [RCV004682070] Chr20:64068098 [GRCh38]
Chr20:62699451 [GRCh37]
Chr20:20q13.33
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5637
Count of miRNA genes:980
Interacting mature miRNAs:1208
Transcripts:ENST00000339217, ENST00000343484, ENST00000361317, ENST00000395053, ENST00000415602, ENST00000440819, ENST00000458442, ENST00000461072, ENST00000465111, ENST00000465433, ENST00000470559, ENST00000475236, ENST00000475792, ENST00000476113, ENST00000477783, ENST00000487164, ENST00000495168
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597237849GWAS1333923_HBMI-adjusted waist-hip ratio QTL GWAS1333923 (human)2e-08body size trait (VT:0100005)206406202564062026Human
596968085GWAS1087604_Hdiastolic blood pressure QTL GWAS1087604 (human)4e-19diastolic blood pressurediastolic blood pressure (CMO:0000005)206406296664062967Human
597192793GWAS1288867_Hgestational age QTL GWAS1288867 (human)2e-10gestational age206406070764060708Human
597237851GWAS1333925_HBMI-adjusted waist-hip ratio QTL GWAS1333925 (human)3e-08body size trait (VT:0100005)206406296664062967Human
407114240GWAS763216_Hlow density lipoprotein cholesterol measurement QTL GWAS763216 (human)0.000001low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)206406457864064579Human
597245983GWAS1342057_HIGF-1 measurement QTL GWAS1342057 (human)8e-12IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)206405996064059961Human
597324818GWAS1420892_Hlow density lipoprotein cholesterol measurement QTL GWAS1420892 (human)4e-17low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)206406070764060708Human
597169105GWAS1265179_HBMI-adjusted waist-hip ratio QTL GWAS1265179 (human)6e-10body size trait (VT:0100005)206405933064059331Human
597329104GWAS1425178_Hbody mass index QTL GWAS1425178 (human)4e-09body mass indexbody mass index (BMI) (CMO:0000105)206406108764061088Human
597169106GWAS1265180_HBMI-adjusted waist-hip ratio QTL GWAS1265180 (human)4e-09body size trait (VT:0100005)206406202564062026Human
597147292GWAS1243366_Hlow density lipoprotein cholesterol measurement QTL GWAS1243366 (human)2e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)206406467164064672Human
597170069GWAS1266143_Hprotein measurement QTL GWAS1266143 (human)6e-134protein measurement206406683564066836Human
597086104GWAS1182178_Hbody mass index QTL GWAS1182178 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)206406019764060198Human
597101337GWAS1197411_Hlow density lipoprotein cholesterol measurement QTL GWAS1197411 (human)8e-19low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)206406070764060708Human
597274903GWAS1370977_Hsystolic blood pressure QTL GWAS1370977 (human)5e-12systolic blood pressuresystolic blood pressure (CMO:0000004)206406296664062967Human
597448467GWAS1544541_Hsystolic blood pressure QTL GWAS1544541 (human)7e-17systolic blood pressuresystolic blood pressure (CMO:0000004)206406070764060708Human
597027841GWAS1123915_Hbody mass index QTL GWAS1123915 (human)2e-11body mass indexbody mass index (BMI) (CMO:0000105)206406019764060198Human
597053569GWAS1149643_Heosinophil count QTL GWAS1149643 (human)2e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)206406108764061088Human
597095950GWAS1192024_Hbody height QTL GWAS1192024 (human)7e-10body height (VT:0001253)body height (CMO:0000106)206406108764061088Human
407110364GWAS759340_Heosinophil count QTL GWAS759340 (human)3e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)206406202564062026Human
406921307GWAS570283_Hanxiety measurement QTL GWAS570283 (human)3e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)206406070764060708Human
407001945GWAS650921_Hsystolic blood pressure QTL GWAS650921 (human)1e-09systolic blood pressuresystolic blood pressure (CMO:0000004)206406070764060708Human
406931098GWAS580074_Hpulse pressure measurement QTL GWAS580074 (human)4e-18pulse pressure measurementpulse pressure (CMO:0000292)206406070764060708Human
597322630GWAS1418704_Hnon-high density lipoprotein cholesterol measurement QTL GWAS1418704 (human)5e-16non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)206406070764060708Human
407154136GWAS803112_Htype 2 diabetes mellitus QTL GWAS803112 (human)2e-08type 2 diabetes mellitus206406182264061823Human
597508353GWAS1604427_Hdiastolic blood pressure QTL GWAS1604427 (human)6e-15diastolic blood pressurediastolic blood pressure (CMO:0000005)206407213764072138Human
597041227GWAS1137301_Hlow density lipoprotein cholesterol measurement QTL GWAS1137301 (human)1e-08triglyceride measurement, low density lipoprotein cholesterol measurementblood triglyceride level (CMO:0000118)206406070764060708Human
597030346GWAS1126420_Hwaist-hip ratio QTL GWAS1126420 (human)0.0000002waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)206406070764060708Human
2292864PRSTS43_HProstate tumor susceptibility QTL 43 (human)0.620.05Prostate tumor susceptibility204730303964444167Human
596958135GWAS1077654_Htriglyceride measurement, low density lipoprotein cholesterol measurement QTL GWAS1077654 (human)1e-08triglyceride measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)206406070764060708Human
407116711GWAS765687_Htriglyceride measurement QTL GWAS765687 (human)1e-18triglyceride measurementblood triglyceride level (CMO:0000118)206406457864064579Human
597275642GWAS1371716_Heducational attainment QTL GWAS1371716 (human)2e-12educational attainment206406973964069740Human
597316924GWAS1412998_Hdiastolic blood pressure QTL GWAS1412998 (human)4e-19diastolic blood pressurediastolic blood pressure (CMO:0000005)206406296664062967Human
597038462GWAS1134536_Hgut microbiome measurement QTL GWAS1134536 (human)9e-08gut microbiome measurement206405996064059961Human
407116524GWAS765500_Hrisk-taking behaviour QTL GWAS765500 (human)3e-08risk-taking behaviour206406019764060198Human
597028988GWAS1125062_HBMI-adjusted waist-hip ratio QTL GWAS1125062 (human)6e-16body size trait (VT:0100005)206406467164064672Human
597447989GWAS1544063_Hserum alanine aminotransferase measurement QTL GWAS1544063 (human)2e-09serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)206406564764065648Human
597057020GWAS1153094_Heosinophil count QTL GWAS1153094 (human)1e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)206406108764061088Human
597219062GWAS1315136_Hbody height QTL GWAS1315136 (human)8e-18body height (VT:0001253)body height (CMO:0000106)206406452564064526Human
597290166GWAS1386240_Hbody mass index QTL GWAS1386240 (human)6e-10body mass indexbody mass index (BMI) (CMO:0000105)206406108764061088Human
597329448GWAS1425522_Hbody mass index QTL GWAS1425522 (human)9e-14body mass indexbody mass index (BMI) (CMO:0000105)206406019764060198Human
597152674GWAS1248748_Htriglyceride measurement, low density lipoprotein cholesterol measurement QTL GWAS1248748 (human)2e-08triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)206406070764060708Human
597148769GWAS1244843_Hsystolic blood pressure QTL GWAS1244843 (human)4e-08systolic blood pressuresystolic blood pressure (CMO:0000004)206406070764060708Human
407001531GWAS650507_Hpulse pressure measurement QTL GWAS650507 (human)0.0000003gestational agepulse pressure (CMO:0000292)206406070764060708Human
406961787GWAS610763_Hthyroid stimulating hormone measurement QTL GWAS610763 (human)0.000004thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)206406467164064672Human
597452518GWAS1548592_Haspartate aminotransferase measurement QTL GWAS1548592 (human)4e-09aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)206406564764065648Human
407114431GWAS763407_Htriglyceride measurement QTL GWAS763407 (human)1e-09triglyceride measurementblood triglyceride level (CMO:0000118)206406457864064579Human
597460834GWAS1556908_Hdiastolic blood pressure QTL GWAS1556908 (human)9e-22diastolic blood pressurediastolic blood pressure (CMO:0000005)206406296664062967Human

Markers in Region
RH92396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372062,695,264 - 62,695,405UniSTSGRCh37
Build 362062,165,708 - 62,165,849RGDNCBI36
Celera2059,381,355 - 59,381,496RGD
Cytogenetic Map20q13.33UniSTS
HuRef2059,429,036 - 59,429,177UniSTS
RH78646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372062,701,855 - 62,703,244UniSTSGRCh37
Celera2059,387,940 - 59,389,329UniSTS
Cytogenetic Map20q13.33UniSTS
HuRef2059,435,621 - 59,437,010UniSTS


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 2421 2788 2253 4974 1726 2351 6 624 1950 465 2270 7291 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ844626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ844627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW474513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI668232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI756937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA440059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB961240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB482075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U86749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000339217   ⟹   ENSP00000339432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,063,237 - 64,070,635 (+)Ensembl
Ensembl Acc Id: ENST00000343484   ⟹   ENSP00000343515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,063,198 - 64,072,347 (+)Ensembl
Ensembl Acc Id: ENST00000361317   ⟹   ENSP00000354552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,057,293 - 64,072,346 (+)Ensembl
Ensembl Acc Id: ENST00000395053   ⟹   ENSP00000378493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,063,158 - 64,072,346 (+)Ensembl
Ensembl Acc Id: ENST00000415602   ⟹   ENSP00000391807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,063,481 - 64,068,134 (+)Ensembl
Ensembl Acc Id: ENST00000440819   ⟹   ENSP00000407085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,064,087 - 64,070,635 (+)Ensembl
Ensembl Acc Id: ENST00000458442   ⟹   ENSP00000416026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,066,211 - 64,071,941 (+)Ensembl
Ensembl Acc Id: ENST00000461072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,070,291 - 64,072,346 (+)Ensembl
Ensembl Acc Id: ENST00000465111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,065,550 - 64,072,345 (+)Ensembl
Ensembl Acc Id: ENST00000465433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,069,464 - 64,072,347 (+)Ensembl
Ensembl Acc Id: ENST00000470559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,064,326 - 64,069,372 (+)Ensembl
Ensembl Acc Id: ENST00000475236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,070,328 - 64,072,346 (+)Ensembl
Ensembl Acc Id: ENST00000475792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,049,836 - 64,062,867 (+)Ensembl
Ensembl Acc Id: ENST00000476113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,063,196 - 64,064,123 (+)Ensembl
Ensembl Acc Id: ENST00000477783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,069,765 - 64,072,347 (+)Ensembl
Ensembl Acc Id: ENST00000487164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,063,158 - 64,070,209 (+)Ensembl
Ensembl Acc Id: ENST00000495168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2064,070,214 - 64,072,347 (+)Ensembl
RefSeq Acc Id: NM_003195   ⟹   NP_003186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,198 - 64,072,347 (+)NCBI
GRCh372062,688,439 - 62,703,700 (+)ENTREZGENE
Build 362062,164,454 - 62,174,143 (+)NCBI Archive
HuRef2059,422,225 - 59,437,466 (+)ENTREZGENE
CHM1_12062,595,031 - 62,604,716 (+)NCBI
T2T-CHM13v2.02065,883,226 - 65,892,426 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198723   ⟹   NP_942016
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,056,972 - 64,072,347 (+)NCBI
GRCh372062,688,439 - 62,703,700 (+)ENTREZGENE
Build 362062,158,883 - 62,174,143 (+)NCBI Archive
HuRef2059,422,225 - 59,437,466 (+)ENTREZGENE
CHM1_12062,589,462 - 62,604,716 (+)NCBI
T2T-CHM13v2.02065,876,999 - 65,892,426 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260229   ⟹   XP_005260286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,198 - 64,072,347 (+)NCBI
GRCh372062,688,439 - 62,703,700 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451976   ⟹   XP_024307744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,056,798 - 64,072,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451981   ⟹   XP_024307749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,055,679 - 64,072,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451983   ⟹   XP_024307751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,198 - 64,072,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451984   ⟹   XP_024307752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,056,798 - 64,072,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451985   ⟹   XP_024307753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,198 - 64,072,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451986   ⟹   XP_024307754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,066,247 - 64,072,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440430   ⟹   XP_047296386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,528 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440431   ⟹   XP_047296387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,198 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440432   ⟹   XP_047296388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,056,798 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440433   ⟹   XP_047296389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,056,798 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440434   ⟹   XP_047296390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,056,847 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440435   ⟹   XP_047296391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,198 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440436   ⟹   XP_047296392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,056,798 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440437   ⟹   XP_047296393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,056,847 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440438   ⟹   XP_047296394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,055,596 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440439   ⟹   XP_047296395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,198 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440440   ⟹   XP_047296396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,198 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440441   ⟹   XP_047296397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,198 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_047440442   ⟹   XP_047296398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382064,063,528 - 64,072,347 (+)NCBI
RefSeq Acc Id: XM_054323941   ⟹   XP_054179916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,883,226 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323942   ⟹   XP_054179917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,885,616 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323943   ⟹   XP_054179918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,876,825 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323944   ⟹   XP_054179919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,876,825 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323945   ⟹   XP_054179920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,876,874 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323946   ⟹   XP_054179921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,876,825 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323947   ⟹   XP_054179922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,883,226 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323948   ⟹   XP_054179923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,876,874 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323949   ⟹   XP_054179924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,876,825 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323950   ⟹   XP_054179925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,876,825 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323951   ⟹   XP_054179926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,875,622 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323952   ⟹   XP_054179927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,883,226 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323953   ⟹   XP_054179928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,883,226 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323954   ⟹   XP_054179929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,883,226 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323955   ⟹   XP_054179930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,883,226 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323956   ⟹   XP_054179931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,882,546 - 65,892,426 (+)NCBI
RefSeq Acc Id: XM_054323957   ⟹   XP_054179932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02065,883,443 - 65,892,426 (+)NCBI
Protein Sequences
Protein RefSeqs NP_003186 (Get FASTA)   NCBI Sequence Viewer  
  NP_942016 (Get FASTA)   NCBI Sequence Viewer  
  XP_005260286 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307744 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307749 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307751 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307752 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307753 (Get FASTA)   NCBI Sequence Viewer  
  XP_024307754 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296386 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296387 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296388 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296389 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296390 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296391 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296392 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296393 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296394 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296395 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296396 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296397 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296398 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179916 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179917 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179918 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179919 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179920 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179921 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179922 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179923 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179924 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179925 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179926 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179927 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179928 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179929 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179930 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179931 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179932 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC39553 (Get FASTA)   NCBI Sequence Viewer  
  AAH18896 (Get FASTA)   NCBI Sequence Viewer  
  AAH50623 (Get FASTA)   NCBI Sequence Viewer  
  BAA09089 (Get FASTA)   NCBI Sequence Viewer  
  BAG51383 (Get FASTA)   NCBI Sequence Viewer  
  CAG33221 (Get FASTA)   NCBI Sequence Viewer  
  CAH59746 (Get FASTA)   NCBI Sequence Viewer  
  EAW75168 (Get FASTA)   NCBI Sequence Viewer  
  EAW75169 (Get FASTA)   NCBI Sequence Viewer  
  EAW75170 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000339432
  ENSP00000339432.4
  ENSP00000343515
  ENSP00000343515.5
  ENSP00000354552
  ENSP00000354552.2
  ENSP00000378493.3
  ENSP00000391807.1
  ENSP00000407085
  ENSP00000407085.1
  ENSP00000416026
  ENSP00000416026.1
GenBank Protein Q15560 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_942016   ⟸   NM_198723
- Peptide Label: isoform b
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003186   ⟸   NM_003195
- Peptide Label: isoform a
- UniProtKB: Q15560 (UniProtKB/Swiss-Prot),   Q8TD37 (UniProtKB/Swiss-Prot),   B3KNM1 (UniProtKB/Swiss-Prot),   Q8TD38 (UniProtKB/Swiss-Prot),   A0A0A0MT58 (UniProtKB/TrEMBL),   Q6IB64 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005260286   ⟸   XM_005260229
- Peptide Label: isoform X1
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307752   ⟸   XM_024451984
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307744   ⟸   XM_024451976
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307749   ⟸   XM_024451981
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307751   ⟸   XM_024451983
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307753   ⟸   XM_024451985
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307754   ⟸   XM_024451986
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000354552   ⟸   ENST00000361317
Ensembl Acc Id: ENSP00000391807   ⟸   ENST00000415602
Ensembl Acc Id: ENSP00000407085   ⟸   ENST00000440819
Ensembl Acc Id: ENSP00000339432   ⟸   ENST00000339217
Ensembl Acc Id: ENSP00000416026   ⟸   ENST00000458442
Ensembl Acc Id: ENSP00000378493   ⟸   ENST00000395053
Ensembl Acc Id: ENSP00000343515   ⟸   ENST00000343484
RefSeq Acc Id: XP_047296394   ⟸   XM_047440438
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296388   ⟸   XM_047440432
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296389   ⟸   XM_047440433
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296392   ⟸   XM_047440436
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296390   ⟸   XM_047440434
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296393   ⟸   XM_047440437
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296387   ⟸   XM_047440431
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296397   ⟸   XM_047440441
- Peptide Label: isoform X3
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296391   ⟸   XM_047440435
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296395   ⟸   XM_047440439
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296396   ⟸   XM_047440440
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296386   ⟸   XM_047440430
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296398   ⟸   XM_047440442
- Peptide Label: isoform X3
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179926   ⟸   XM_054323951
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179918   ⟸   XM_054323943
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179919   ⟸   XM_054323944
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179921   ⟸   XM_054323946
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179924   ⟸   XM_054323949
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179925   ⟸   XM_054323950
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179920   ⟸   XM_054323945
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179923   ⟸   XM_054323948
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179931   ⟸   XM_054323956
- Peptide Label: isoform X3
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179922   ⟸   XM_054323947
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179928   ⟸   XM_054323953
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179927   ⟸   XM_054323952
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179929   ⟸   XM_054323954
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179930   ⟸   XM_054323955
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179916   ⟸   XM_054323941
- Peptide Label: isoform X1
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179932   ⟸   XM_054323957
- Peptide Label: isoform X3
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179917   ⟸   XM_054323942
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MT58 (UniProtKB/TrEMBL)
Protein Domains
TFIIS central   TFIIS N-terminal   TFIIS-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15560-F1-model_v2 AlphaFold Q15560 1-299 view protein structure

Promoters
RGD ID:6799123
Promoter ID:HG_KWN:40236
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080265,   OTTHUMT00000080286
Position:
Human AssemblyChrPosition (strand)Source
Build 362062,150,326 - 62,152,347 (+)MPROMDB
RGD ID:6799146
Promoter ID:HG_KWN:40237
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000395050,   NM_198723,   OTTHUMT00000080264,   UC002YHT.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362062,157,921 - 62,159,242 (+)MPROMDB
RGD ID:6799122
Promoter ID:HG_KWN:40238
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395053,   NM_003195,   OTTHUMT00000080279,   OTTHUMT00000080280,   OTTHUMT00000080283,   OTTHUMT00000080285,   OTTHUMT00000080287,   OTTHUMT00000080288,   UC010GKQ.1,   UC010GKS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362062,164,156 - 62,165,872 (+)MPROMDB
RGD ID:6853438
Promoter ID:EP74544
Type:initiation region
Name:HS_TCEA2
Description:Transcription elongation factor A (SII), 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 362062,164,997 - 62,165,057EPD
RGD ID:6799119
Promoter ID:HG_KWN:40239
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080278,   OTTHUMT00000080281,   UC010GKT.1,   UC010GKU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362062,166,521 - 62,167,962 (+)MPROMDB
RGD ID:6799120
Promoter ID:HG_KWN:40240
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000080282,   OTTHUMT00000080289,   OTTHUMT00000080290,   OTTHUMT00000080291,   OTTHUMT00000080292
Position:
Human AssemblyChrPosition (strand)Source
Build 362062,170,381 - 62,172,422 (+)MPROMDB
RGD ID:13602472
Promoter ID:EPDNEW_H27420
Type:initiation region
Name:TCEA2_1
Description:transcription elongation factor A2
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
GRCh382064,063,206 - 64,063,266EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11614 AgrOrtholog
COSMIC TCEA2 COSMIC
Ensembl Genes ENSG00000171703 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000339217 ENTREZGENE
  ENST00000339217.8 UniProtKB/TrEMBL
  ENST00000343484 ENTREZGENE
  ENST00000343484.10 UniProtKB/Swiss-Prot
  ENST00000361317 ENTREZGENE
  ENST00000361317.6 UniProtKB/Swiss-Prot
  ENST00000395053.7 UniProtKB/TrEMBL
  ENST00000415602.5 UniProtKB/TrEMBL
  ENST00000440819 ENTREZGENE
  ENST00000440819.5 UniProtKB/TrEMBL
  ENST00000458442 ENTREZGENE
  ENST00000458442.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.472.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.930.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.20.25.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171703 GTEx
HGNC ID HGNC:11614 ENTREZGENE
Human Proteome Map TCEA2 Human Proteome Map
InterPro TF_IIS-typ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS/CRSP70_N_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS/LEDGF_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS_cen_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS_cen_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFSII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_TFIIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6919 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6919 ENTREZGENE
OMIM 604784 OMIM
PANTHER TRANSCRIPTION ELONGATION FACTOR A PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSCRIPTION FACTOR S-II ZINC FINGER DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Med26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36373 PharmGKB
PIRSF TF_IIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TFIIS_CENTRAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFIIS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_TFIIS_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_TFIIS_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TFS2M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TFS2N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46942 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47676 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc beta-ribbon UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MT58 ENTREZGENE, UniProtKB/TrEMBL
  B3KNM1 ENTREZGENE
  Q15560 ENTREZGENE
  Q5JRI7_HUMAN UniProtKB/TrEMBL
  Q5JRI8_HUMAN UniProtKB/TrEMBL
  Q5ZEZ5_HUMAN UniProtKB/TrEMBL
  Q6IB64 ENTREZGENE, UniProtKB/TrEMBL
  Q86VL0_HUMAN UniProtKB/TrEMBL
  Q8TD37 ENTREZGENE
  Q8TD38 ENTREZGENE
  TCEA2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KNM1 UniProtKB/Swiss-Prot
  Q8TD37 UniProtKB/Swiss-Prot
  Q8TD38 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 TCEA2  transcription elongation factor A2  TCEA2  transcription elongation factor A (SII), 2  Symbol and/or name change 5135510 APPROVED