TPD52L2 (TPD52 like 2) - Rat Genome Database

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Gene: TPD52L2 (TPD52 like 2) Homo sapiens
Analyze
Symbol: TPD52L2
Name: TPD52 like 2
RGD ID: 1352243
HGNC Page HGNC:12007
Description: Enables protein homodimerization activity. Predicted to be involved in regulation of cell population proliferation. Located in perinuclear region of cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D54; DKFZp686A1765; HCCR-binding protein 2; hD54; TPD54; tumor protein D52 like 2; tumor protein D52-like 2; tumor protein D54
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100419935  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382063,865,270 - 63,891,538 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2063,865,228 - 63,891,545 (+)EnsemblGRCh38hg38GRCh38
GRCh372062,496,623 - 62,522,891 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362061,967,034 - 61,993,335 (+)NCBINCBI36Build 36hg18NCBI36
Build 342061,967,033 - 61,993,332NCBI
Celera2059,180,773 - 59,206,754 (+)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2059,229,204 - 59,255,318 (+)NCBIHuRef
CHM1_12062,397,395 - 62,423,712 (+)NCBICHM1_1
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Identification of homo- and heteromeric interactions between members of the breast carcinoma-associated D52 protein family using the yeast two-hybrid system. Byrne JA, etal., Oncogene 1998 Feb 19;16(7):873-81.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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:8125298   PMID:8812487   PMID:9838088   PMID:11549320   PMID:11780052   PMID:12477932   PMID:12963375   PMID:14702039   PMID:14761963   PMID:15342556   PMID:15489334   PMID:16112108  
PMID:16341674   PMID:16344560   PMID:16620967   PMID:16631610   PMID:17081983   PMID:18698023   PMID:21873635   PMID:21988832   PMID:22658674   PMID:22863883   PMID:22939629   PMID:23443559  
PMID:23444366   PMID:23529586   PMID:23535732   PMID:24052230   PMID:24981860   PMID:25281560   PMID:25416956   PMID:25468996   PMID:26186194   PMID:26344197   PMID:27576135   PMID:27880917  
PMID:28339026   PMID:28514442   PMID:28718761   PMID:28798933   PMID:29039566   PMID:29106517   PMID:29117863   PMID:29568061   PMID:29791485   PMID:30097533   PMID:30194290   PMID:30442662  
PMID:30442766   PMID:31076518   PMID:31452512   PMID:31470122   PMID:31478661   PMID:31519766   PMID:31586073   PMID:31871319   PMID:32296183   PMID:32687490   PMID:32913203   PMID:33869196  
PMID:33957083   PMID:33961781   PMID:34079125   PMID:34369648   PMID:34427635   PMID:34597346   PMID:34795231   PMID:35013218   PMID:35271311   PMID:35337019   PMID:35439318   PMID:35446349  
PMID:35562734   PMID:35831314   PMID:35844135   PMID:35944360   PMID:36042349   PMID:36071863   PMID:36215168   PMID:36232890   PMID:36517590   PMID:36634849   PMID:37232246   PMID:37774976  
PMID:37827155   PMID:38496616  


Genomics

Comparative Map Data
TPD52L2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382063,865,270 - 63,891,538 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2063,865,228 - 63,891,545 (+)EnsemblGRCh38hg38GRCh38
GRCh372062,496,623 - 62,522,891 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362061,967,034 - 61,993,335 (+)NCBINCBI36Build 36hg18NCBI36
Build 342061,967,033 - 61,993,332NCBI
Celera2059,180,773 - 59,206,754 (+)NCBICelera
Cytogenetic Map20q13.33NCBI
HuRef2059,229,204 - 59,255,318 (+)NCBIHuRef
CHM1_12062,397,395 - 62,423,712 (+)NCBICHM1_1
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBIT2T-CHM13v2.0
Tpd52l2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392181,138,951 - 181,160,103 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2181,138,935 - 181,159,759 (+)EnsemblGRCm39 Ensembl
GRCm382181,497,142 - 181,517,962 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2181,497,142 - 181,517,966 (+)EnsemblGRCm38mm10GRCm38
MGSCv372181,231,958 - 181,251,462 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362181,426,660 - 181,446,164 (+)NCBIMGSCv36mm8
Celera2185,578,690 - 185,598,201 (+)NCBICelera
Cytogenetic Map2H4NCBI
cM Map2103.63NCBI
Tpd52l2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83188,972,321 - 188,995,721 (+)NCBIGRCr8
mRatBN7.23168,598,449 - 168,618,201 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3168,594,609 - 168,619,762 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3172,978,764 - 172,997,530 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03181,937,859 - 181,956,625 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03178,599,374 - 178,618,131 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03176,989,333 - 177,009,425 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3176,989,672 - 177,008,419 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03180,699,955 - 180,719,706 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43170,631,625 - 170,650,377 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13170,537,663 - 170,556,408 (+)NCBI
Celera3163,969,768 - 163,988,599 (-)NCBICelera
Cytogenetic Map3q43NCBI
Tpd52l2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955528371,761 - 389,705 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955528371,761 - 389,714 (-)NCBIChiLan1.0ChiLan1.0
TPD52L2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22169,673,268 - 69,702,075 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12069,666,703 - 69,694,085 (+)NCBINHGRI_mPanPan1
PanPan1.12061,787,181 - 61,810,359 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2061,787,310 - 61,808,876 (+)Ensemblpanpan1.1panPan2
TPD52L2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12447,353,523 - 47,369,507 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2447,353,573 - 47,369,356 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2446,484,802 - 46,503,166 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02448,489,740 - 48,508,262 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2448,489,755 - 48,509,480 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12447,334,489 - 47,352,851 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02447,459,489 - 47,477,706 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02448,197,759 - 48,216,026 (+)NCBIUU_Cfam_GSD_1.0
Tpd52l2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640195,618,502 - 195,638,809 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651411,072,113 - 11,094,269 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651411,072,148 - 11,092,454 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TPD52L2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1762,733,593 - 62,750,557 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11762,733,555 - 62,750,566 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TPD52L2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12343,782 - 359,474 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2342,247 - 359,295 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605047,878,015 - 47,905,504 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tpd52l2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474129,492,288 - 29,509,952 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474129,492,109 - 29,511,410 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TPD52L2
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_199360.2(TPD52L2):c.374+2217G>T single nucleotide variant Lung cancer [RCV000101738] Chr20:63878092 [GRCh38]
Chr20:62509445 [GRCh37]
Chr20:20q13.33
uncertain 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_003288.4(TPD52L2):c.497C>T (p.Ser166Leu) single nucleotide variant Inborn genetic diseases [RCV002991927] Chr20:63889210 [GRCh38]
Chr20:62520563 [GRCh37]
Chr20:61991007 [NCBI36]
Chr20:20q13.33
uncertain significance|not provided
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(chr20:63153963-64277321)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(chr20:60473339-62915555)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_003288.4(TPD52L2):c.610G>A (p.Ala204Thr) single nucleotide variant Inborn genetic diseases [RCV003254508] Chr20:63889934 [GRCh38]
Chr20:62521287 [GRCh37]
Chr20:20q13.33
likely benign
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(chr20:62002369-62915555)x1 copy number loss not provided [RCV000684126] Chr20:62002369..62915555 [GRCh37]
Chr20:20q13.33
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 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 20q13.33(chr20:62495822-62525667)x1 copy number loss not provided [RCV000741398] Chr20:62495822..62525667 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
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
NM_003288.4(TPD52L2):c.480C>A (p.Asn160Lys) single nucleotide variant Inborn genetic diseases [RCV003246088] Chr20:63889193 [GRCh38]
Chr20:62520546 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003288.4(TPD52L2):c.298G>A (p.Val100Met) single nucleotide variant not provided [RCV000973757] Chr20:63873800 [GRCh38]
Chr20:62505153 [GRCh37]
Chr20:20q13.33
benign
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1 copy number loss not provided [RCV001007103] Chr20:61152321..62915555 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 copy number gain not provided [RCV001007098] Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33
pathogenic
NC_000020.10:g.(?_61977556)_(62562941_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001031161] Chr20:61977556..62562941 [GRCh37]
Chr20:20q13.33
pathogenic|uncertain significance
NC_000020.10:g.(?_60831241)_(62680869_?)dup duplication Developmental and epileptic encephalopathy, 33 [RCV003107566]|Early infantile epileptic encephalopathy with suppression bursts [RCV003122564] Chr20:60831241..62680869 [GRCh37]
Chr20:20q13.33
uncertain significance
NC_000020.10:g.(?_61977556)_(62562941_?)dup duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV001033704] Chr20:61977556..62562941 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1 copy number loss not provided [RCV001258914] Chr20:61975605..62915555 [GRCh37]
Chr20:20q13.33
pathogenic
NC_000020.10:g.(?_60831241)_(62664346_?)dup duplication Developmental and epileptic encephalopathy, 33 [RCV001295457]|Early infantile epileptic encephalopathy with suppression bursts [RCV001316934] Chr20:60831241..62664346 [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 20q13.33(chr20:61041481-62680992) copy number loss Seizures, benign familial neonatal, 1 [RCV001786555] Chr20:61041481..62680992 [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(chr20:61826780-62660844) copy number loss Seizures, benign familial neonatal, 1 [RCV001786550] Chr20:61826780..62660844 [GRCh37]
Chr20:20q13.33
likely pathogenic
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(chr20:61619222-62915555) 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 20q13.32-13.33(chr20:56835739-62915555) copy number gain not specified [RCV002052713] Chr20:56835739..62915555 [GRCh37]
Chr20:20q13.32-13.33
pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555) copy number gain not specified [RCV002052714] Chr20:60473339..62915555 [GRCh37]
Chr20:20q13.33
uncertain significance
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3 copy number gain not provided [RCV002473575] Chr20:60621074..62915555 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003288.4(TPD52L2):c.575C>T (p.Ser192Leu) single nucleotide variant Inborn genetic diseases [RCV002905474] Chr20:63889899 [GRCh38]
Chr20:62521252 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003288.4(TPD52L2):c.98C>T (p.Ala33Val) single nucleotide variant Inborn genetic diseases [RCV002946925] Chr20:63869374 [GRCh38]
Chr20:62500727 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003288.4(TPD52L2):c.68C>T (p.Thr23Met) single nucleotide variant Inborn genetic diseases [RCV002924451] Chr20:63869344 [GRCh38]
Chr20:62500697 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003288.4(TPD52L2):c.350A>G (p.Asn117Ser) single nucleotide variant Inborn genetic diseases [RCV002884783] Chr20:63875851 [GRCh38]
Chr20:62507204 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_003288.4(TPD52L2):c.311G>A (p.Ser104Asn) single nucleotide variant Inborn genetic diseases [RCV002713359] Chr20:63873813 [GRCh38]
Chr20:62505166 [GRCh37]
Chr20:20q13.33
likely benign
NM_003288.4(TPD52L2):c.533T>C (p.Val178Ala) single nucleotide variant Inborn genetic diseases [RCV002679339] Chr20:63889857 [GRCh38]
Chr20:62521210 [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
GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3 copy number gain not provided [RCV003485217] Chr20:61986902..62690224 [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
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR122hsa-miR-122-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)18073344

Predicted Target Of
Summary Value
Count of predictions:5376
Count of miRNA genes:673
Interacting mature miRNAs:765
Transcripts:ENST00000217121, ENST00000346249, ENST00000348257, ENST00000351424, ENST00000352482, ENST00000358548, ENST00000369927, ENST00000474176
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
RH91387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372062,522,659 - 62,522,809UniSTSGRCh37
Build 362061,993,103 - 61,993,253RGDNCBI36
Celera2059,206,522 - 59,206,672RGD
Cytogenetic Map20q13.2-q13.3UniSTS
HuRef2059,255,079 - 59,255,229UniSTS
RH74935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372062,522,648 - 62,522,892UniSTSGRCh37
Build 362061,993,092 - 61,993,336RGDNCBI36
Celera2059,206,511 - 59,206,755RGD
Cytogenetic Map20q13.2-q13.3UniSTS
HuRef2059,255,068 - 59,255,312UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 2439 2975 1717 615 1942 456 4357 2190 3734 418 1458 1613 175 1 1204 2788 6 2
Low 16 9 9 9 9 7 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB062396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF004430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL118506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU124850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY323819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI667351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI754201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM473873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM833522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP347669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ948007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019631 (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
  CR542036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA547106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA689198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA871584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC362382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC428780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000217121   ⟹   ENSP00000217121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2063,865,294 - 63,891,545 (+)Ensembl
RefSeq Acc Id: ENST00000346249   ⟹   ENSP00000343547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2063,865,270 - 63,891,538 (+)Ensembl
RefSeq Acc Id: ENST00000348257   ⟹   ENSP00000343554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2063,865,290 - 63,891,545 (+)Ensembl
RefSeq Acc Id: ENST00000351424   ⟹   ENSP00000340006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2063,865,294 - 63,891,545 (+)Ensembl
RefSeq Acc Id: ENST00000352482   ⟹   ENSP00000344647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2063,865,290 - 63,891,545 (+)Ensembl
RefSeq Acc Id: ENST00000358548   ⟹   ENSP00000351350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2063,865,294 - 63,891,545 (+)Ensembl
RefSeq Acc Id: ENST00000369927   ⟹   ENSP00000358943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2063,865,243 - 63,890,424 (+)Ensembl
RefSeq Acc Id: ENST00000474176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2063,886,882 - 63,891,545 (+)Ensembl
RefSeq Acc Id: ENST00000611972   ⟹   ENSP00000482370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2063,865,228 - 63,891,545 (+)Ensembl
RefSeq Acc Id: ENST00000615907   ⟹   ENSP00000482024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2063,865,228 - 63,891,545 (+)Ensembl
RefSeq Acc Id: NM_001243891   ⟹   NP_001230820
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
GRCh372062,496,581 - 62,522,898 (+)NCBI
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243892   ⟹   NP_001230821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
GRCh372062,496,581 - 62,522,898 (+)NCBI
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243894   ⟹   NP_001230823
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
GRCh372062,496,581 - 62,522,898 (+)NCBI
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243895   ⟹   NP_001230824
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003288   ⟹   NP_003279
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
GRCh372062,496,581 - 62,522,898 (+)NCBI
Build 362061,967,034 - 61,993,335 (+)NCBI Archive
Celera2059,180,773 - 59,206,754 (+)RGD
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199359   ⟹   NP_955391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
GRCh372062,496,581 - 62,522,898 (+)NCBI
Build 362061,967,034 - 61,993,335 (+)NCBI Archive
Celera2059,180,773 - 59,206,754 (+)RGD
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199360   ⟹   NP_955392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
GRCh372062,496,581 - 62,522,898 (+)NCBI
Build 362061,967,034 - 61,993,335 (+)NCBI Archive
Celera2059,180,773 - 59,206,754 (+)RGD
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199361   ⟹   NP_955393
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
GRCh372062,496,581 - 62,522,898 (+)NCBI
Build 362061,967,034 - 61,993,335 (+)NCBI Archive
Celera2059,180,773 - 59,206,754 (+)RGD
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199362   ⟹   NP_955394
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
GRCh372062,496,581 - 62,522,898 (+)NCBI
Build 362061,967,034 - 61,993,335 (+)NCBI Archive
Celera2059,180,773 - 59,206,754 (+)RGD
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199363   ⟹   NP_955395
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
GRCh372062,496,581 - 62,522,898 (+)NCBI
Build 362061,967,034 - 61,993,335 (+)NCBI Archive
Celera2059,180,773 - 59,206,754 (+)RGD
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
RefSeq Acc Id: NR_045090
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,865,270 - 63,891,538 (+)NCBI
HuRef2059,229,204 - 59,255,318 (+)NCBI
CHM1_12062,397,395 - 62,423,712 (+)NCBI
T2T-CHM13v2.02065,685,113 - 65,711,383 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001230820 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230821 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230823 (Get FASTA)   NCBI Sequence Viewer  
  NP_001230824 (Get FASTA)   NCBI Sequence Viewer  
  NP_003279 (Get FASTA)   NCBI Sequence Viewer  
  NP_955391 (Get FASTA)   NCBI Sequence Viewer  
  NP_955392 (Get FASTA)   NCBI Sequence Viewer  
  NP_955393 (Get FASTA)   NCBI Sequence Viewer  
  NP_955394 (Get FASTA)   NCBI Sequence Viewer  
  NP_955395 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC98477 (Get FASTA)   NCBI Sequence Viewer  
  AAC98478 (Get FASTA)   NCBI Sequence Viewer  
  AAH06804 (Get FASTA)   NCBI Sequence Viewer  
  AAQ95044 (Get FASTA)   NCBI Sequence Viewer  
  AAV38437 (Get FASTA)   NCBI Sequence Viewer  
  BAB93483 (Get FASTA)   NCBI Sequence Viewer  
  BAD96751 (Get FASTA)   NCBI Sequence Viewer  
  BAG37101 (Get FASTA)   NCBI Sequence Viewer  
  BAG51460 (Get FASTA)   NCBI Sequence Viewer  
  BAG56865 (Get FASTA)   NCBI Sequence Viewer  
  BAG59585 (Get FASTA)   NCBI Sequence Viewer  
  BAG60608 (Get FASTA)   NCBI Sequence Viewer  
  CAG46833 (Get FASTA)   NCBI Sequence Viewer  
  CAH18065 (Get FASTA)   NCBI Sequence Viewer  
  EAW75194 (Get FASTA)   NCBI Sequence Viewer  
  EAW75195 (Get FASTA)   NCBI Sequence Viewer  
  EAW75196 (Get FASTA)   NCBI Sequence Viewer  
  EAW75197 (Get FASTA)   NCBI Sequence Viewer  
  EAW75198 (Get FASTA)   NCBI Sequence Viewer  
  EAW75199 (Get FASTA)   NCBI Sequence Viewer  
  EAW75200 (Get FASTA)   NCBI Sequence Viewer  
  EAW75201 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000217121
  ENSP00000217121.5
  ENSP00000340006
  ENSP00000340006.4
  ENSP00000343547
  ENSP00000343547.4
  ENSP00000343554
  ENSP00000343554.5
  ENSP00000344647
  ENSP00000344647.4
  ENSP00000351350
  ENSP00000351350.4
  ENSP00000358943
  ENSP00000358943.2
  ENSP00000482024
  ENSP00000482024.1
  ENSP00000482370
  ENSP00000482370.1
GenBank Protein O43399 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_003279   ⟸   NM_003288
- Peptide Label: isoform e
- UniProtKB: Q5U0E0 (UniProtKB/Swiss-Prot),   Q5JWU8 (UniProtKB/Swiss-Prot),   Q5JWU6 (UniProtKB/Swiss-Prot),   Q5JWU5 (UniProtKB/Swiss-Prot),   O43398 (UniProtKB/Swiss-Prot),   E1P5G7 (UniProtKB/Swiss-Prot),   B4DPJ6 (UniProtKB/Swiss-Prot),   Q9H3Z6 (UniProtKB/Swiss-Prot),   O43399 (UniProtKB/Swiss-Prot),   Q6FGS1 (UniProtKB/TrEMBL),   Q53GA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_955391   ⟸   NM_199359
- Peptide Label: isoform f
- UniProtKB: Q68E05 (UniProtKB/TrEMBL),   Q53GA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_955392   ⟸   NM_199360
- Peptide Label: isoform a
- UniProtKB: Q53GA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_955393   ⟸   NM_199361
- Peptide Label: isoform b
- UniProtKB: Q53GA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_955394   ⟸   NM_199362
- Peptide Label: isoform c
- UniProtKB: Q53GA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_955395   ⟸   NM_199363
- Peptide Label: isoform d
- UniProtKB: Q53GA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230824   ⟸   NM_001243895
- Peptide Label: isoform j
- UniProtKB: A0A087WYR3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230823   ⟸   NM_001243894
- Peptide Label: isoform i
- UniProtKB: A0A087WZ51 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230820   ⟸   NM_001243891
- Peptide Label: isoform g
- UniProtKB: Q53GA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230821   ⟸   NM_001243892
- Peptide Label: isoform h
- UniProtKB: B4DDV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000343547   ⟸   ENST00000346249
RefSeq Acc Id: ENSP00000343554   ⟸   ENST00000348257
RefSeq Acc Id: ENSP00000217121   ⟸   ENST00000217121
RefSeq Acc Id: ENSP00000482370   ⟸   ENST00000611972
RefSeq Acc Id: ENSP00000482024   ⟸   ENST00000615907
RefSeq Acc Id: ENSP00000340006   ⟸   ENST00000351424
RefSeq Acc Id: ENSP00000344647   ⟸   ENST00000352482
RefSeq Acc Id: ENSP00000358943   ⟸   ENST00000369927
RefSeq Acc Id: ENSP00000351350   ⟸   ENST00000358548

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43399-F1-model_v2 AlphaFold O43399 1-206 view protein structure

Promoters
RGD ID:6799143
Promoter ID:HG_KWN:40218
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:OTTHUMT00000080247,   OTTHUMT00000080248,   OTTHUMT00000080249,   OTTHUMT00000080251,   OTTHUMT00000080252,   OTTHUMT00000080253
Position:
Human AssemblyChrPosition (strand)Source
Build 362061,966,091 - 61,967,127 (+)MPROMDB
RGD ID:13602448
Promoter ID:EPDNEW_H27406
Type:initiation region
Name:TPD52L2_1
Description:tumor protein D52 like 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
GRCh382063,865,271 - 63,865,331EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12007 AgrOrtholog
COSMIC TPD52L2 COSMIC
Ensembl Genes ENSG00000101150 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000217121 ENTREZGENE
  ENST00000217121.9 UniProtKB/Swiss-Prot
  ENST00000346249 ENTREZGENE
  ENST00000346249.9 UniProtKB/Swiss-Prot
  ENST00000348257 ENTREZGENE
  ENST00000348257.9 UniProtKB/Swiss-Prot
  ENST00000351424 ENTREZGENE
  ENST00000351424.8 UniProtKB/Swiss-Prot
  ENST00000352482 ENTREZGENE
  ENST00000352482.8 UniProtKB/Swiss-Prot
  ENST00000358548 ENTREZGENE
  ENST00000358548.4 UniProtKB/Swiss-Prot
  ENST00000369927 ENTREZGENE
  ENST00000369927.8 UniProtKB/Swiss-Prot
  ENST00000611972 ENTREZGENE
  ENST00000611972.4 UniProtKB/TrEMBL
  ENST00000615907 ENTREZGENE
  ENST00000615907.4 UniProtKB/TrEMBL
Gene3D-CATH 1.50.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101150 GTEx
HGNC ID HGNC:12007 ENTREZGENE
Human Proteome Map TPD52L2 Human Proteome Map
InterPro 6hp_glycosidase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPD52 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7165 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7165 ENTREZGENE
OMIM 603747 OMIM
PANTHER PTHR19307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUMOR PROTEIN D54 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TPD52 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36688 PharmGKB
UniProt A0A087WYR3 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WZ51 ENTREZGENE, UniProtKB/TrEMBL
  B4DDV4 ENTREZGENE, UniProtKB/TrEMBL
  B4DPJ6 ENTREZGENE
  E1P5G7 ENTREZGENE
  O43398 ENTREZGENE
  O43399 ENTREZGENE
  Q53GA0 ENTREZGENE, UniProtKB/TrEMBL
  Q5JWU5 ENTREZGENE
  Q5JWU6 ENTREZGENE
  Q5JWU8 ENTREZGENE
  Q5U0E0 ENTREZGENE
  Q68E05 ENTREZGENE, UniProtKB/TrEMBL
  Q6FGS1 ENTREZGENE, UniProtKB/TrEMBL
  Q9H3Z6 ENTREZGENE
  TPD54_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DPJ6 UniProtKB/Swiss-Prot
  E1P5G7 UniProtKB/Swiss-Prot
  O43398 UniProtKB/Swiss-Prot
  Q5JWU5 UniProtKB/Swiss-Prot
  Q5JWU6 UniProtKB/Swiss-Prot
  Q5JWU8 UniProtKB/Swiss-Prot
  Q5U0E0 UniProtKB/Swiss-Prot
  Q9H3Z6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-14 TPD52L2  TPD52 like 2  TPD52L2  tumor protein D52 like 2  Symbol and/or name change 5135510 APPROVED
2016-04-12 TPD52L2  tumor protein D52 like 2  TPD52L2  tumor protein D52-like 2  Symbol and/or name change 5135510 APPROVED