TSC22D2 (TSC22 domain family member 2) - Rat Genome Database

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Gene: TSC22D2 (TSC22 domain family member 2) Homo sapiens
Analyze
Symbol: TSC22D2
Name: TSC22 domain family member 2
RGD ID: 1602336
HGNC Page HGNC:29095
Description: Involved in negative regulation of cell cycle.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA0669; TILZ4a; TILZ4b; TILZ4c; TSC22 domain family 2; TSC22 domain family protein 2; TSC22 domain family, member 2; TSC22-related-inducible leucine zipper protein 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383150,408,298 - 150,466,422 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3150,408,298 - 150,466,422 (+)EnsemblGRCh38hg38GRCh38
GRCh373150,126,085 - 150,184,209 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363151,609,478 - 151,660,321 (+)NCBINCBI36Build 36hg18NCBI36
Celera3148,539,824 - 148,590,663 (+)NCBICelera
Cytogenetic Map3q25.1NCBI
HuRef3147,500,522 - 147,551,293 (+)NCBIHuRef
CHM1_13150,089,862 - 150,140,705 (+)NCBICHM1_1
T2T-CHM13v2.03153,159,594 - 153,217,686 (+)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
(-)-epigallocatechin 3-gallate  (EXP)
17beta-estradiol  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
amitrole  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
diclofenac  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
glycidol  (ISO)
hydrogen peroxide  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
ivermectin  (EXP)
leflunomide  (EXP)
Licochalcone B  (EXP)
menadione  (EXP)
methimazole  (ISO)
methylisothiazolinone  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
potassium chromate  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenite  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Keratoconus  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:8889549   PMID:9734811   PMID:12477932   PMID:12665801   PMID:14702039   PMID:15489334   PMID:18029348   PMID:19274049   PMID:20149264   PMID:22479202   PMID:22510880  
PMID:23382044   PMID:26186194   PMID:27337956   PMID:27573352   PMID:27609421   PMID:28514442   PMID:29507755   PMID:29987050   PMID:31125406   PMID:31253590   PMID:32160551   PMID:32694731  
PMID:32707033   PMID:33961781   PMID:34079125   PMID:34672947   PMID:35044719   PMID:35271311  


Genomics

Comparative Map Data
TSC22D2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383150,408,298 - 150,466,422 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3150,408,298 - 150,466,422 (+)EnsemblGRCh38hg38GRCh38
GRCh373150,126,085 - 150,184,209 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363151,609,478 - 151,660,321 (+)NCBINCBI36Build 36hg18NCBI36
Celera3148,539,824 - 148,590,663 (+)NCBICelera
Cytogenetic Map3q25.1NCBI
HuRef3147,500,522 - 147,551,293 (+)NCBIHuRef
CHM1_13150,089,862 - 150,140,705 (+)NCBICHM1_1
T2T-CHM13v2.03153,159,594 - 153,217,686 (+)NCBIT2T-CHM13v2.0
Tsc22d2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39358,322,123 - 58,374,208 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl358,322,136 - 58,374,204 (+)EnsemblGRCm39 Ensembl
GRCm38358,414,702 - 58,466,787 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl358,414,715 - 58,466,783 (+)EnsemblGRCm38mm10GRCm38
MGSCv37358,219,611 - 58,270,709 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36358,503,618 - 58,554,716 (+)NCBIMGSCv36mm8
Celera358,108,756 - 58,159,832 (+)NCBICelera
Cytogenetic Map3DNCBI
cM Map328.51NCBI
Tsc22d2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82144,796,760 - 144,847,930 (+)NCBIGRCr8
mRatBN7.22142,646,778 - 142,697,977 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2142,644,744 - 142,693,606 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2149,286,576 - 149,332,836 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02147,392,597 - 147,438,876 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02142,024,997 - 142,071,278 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02148,607,148 - 148,659,632 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2148,607,748 - 148,655,261 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02168,024,657 - 168,077,159 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42147,754,030 - 147,799,940 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2137,076,548 - 137,123,076 (+)NCBICelera
Cytogenetic Map2q26NCBI
Tsc22d2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554481,639,463 - 1,678,279 (+)NCBIChiLan1.0ChiLan1.0
TSC22D2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22148,292,168 - 148,349,039 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13148,298,654 - 148,360,073 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03147,426,058 - 147,484,285 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13155,000,654 - 155,051,795 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3155,001,006 - 155,050,323 (+)Ensemblpanpan1.1panPan2
TSC22D2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12345,086,583 - 45,136,094 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2345,087,628 - 45,133,903 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2344,952,592 - 45,000,409 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02345,715,000 - 45,762,894 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2345,715,169 - 45,764,337 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12345,304,490 - 45,352,300 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02345,356,892 - 45,404,722 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02345,607,951 - 45,655,781 (+)NCBIUU_Cfam_GSD_1.0
Tsc22d2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560290,871,162 - 90,922,455 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936758845,528 - 892,059 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936758845,359 - 898,937 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSC22D2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1390,641,175 - 90,691,568 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11390,640,490 - 90,697,671 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21398,710,840 - 98,761,868 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TSC22D2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11540,232,247 - 40,284,936 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1540,233,732 - 40,283,899 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604113,053,315 - 13,105,931 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tsc22d2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473027,821,862 - 27,863,344 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473027,821,638 - 27,869,805 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TSC22D2
49 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1 copy number loss See cases [RCV000447056] Chr3:148425748..153220169 [GRCh37]
Chr3:3q24-25.2
pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_001303264.2(TSC22D2):c.620C>T (p.Thr207Ile) single nucleotide variant Inborn genetic diseases [RCV003284966] Chr3:150409970 [GRCh38]
Chr3:150127757 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.748T>C (p.Ser250Pro) single nucleotide variant Inborn genetic diseases [RCV003262637] Chr3:150410098 [GRCh38]
Chr3:150127885 [GRCh37]
Chr3:3q25.1
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q25.1(chr3:150125489-150128484)x1 copy number loss not provided [RCV000742881] Chr3:150125489..150128484 [GRCh37]
Chr3:3q25.1
benign
NM_001303264.2(TSC22D2):c.1084C>T (p.Pro362Ser) single nucleotide variant Inborn genetic diseases [RCV003245788] Chr3:150410434 [GRCh38]
Chr3:150128221 [GRCh37]
Chr3:3q25.1
uncertain significance
GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1 copy number loss not provided [RCV001005477] Chr3:149404255..152786331 [GRCh37]
Chr3:3q25.1-25.2
pathogenic
GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1 copy number loss not provided [RCV001005476] Chr3:144053029..150272658 [GRCh37]
Chr3:3q24-25.1
likely pathogenic
GRCh38/hg38 3q25.1(chr3:150462960-150915627)x1 copy number loss See cases [RCV000053994] Chr3:150462960..150915627 [GRCh38]
Chr3:150180747..150633414 [GRCh37]
Chr3:151663437..152116104 [NCBI36]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.761C>T (p.Pro254Leu) single nucleotide variant Inborn genetic diseases [RCV003270652] Chr3:150410111 [GRCh38]
Chr3:150127898 [GRCh37]
Chr3:3q25.1
uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1
pathogenic
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 copy number gain Brachycephaly [RCV001801182] Chr3:142729607..157921084 [GRCh37]
Chr3:3q23-25.32
pathogenic
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33
pathogenic
NC_000003.11:g.(?_148447967)_(151176497_?)del deletion Glycogen storage disease XV [RCV003120787] Chr3:148447967..151176497 [GRCh37]
Chr3:3q24-25.1
pathogenic
NM_001303264.2(TSC22D2):c.1702G>T (p.Ala568Ser) single nucleotide variant Keratoconus [RCV003235801] Chr3:150411052 [GRCh38]
Chr3:150128839 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.872C>T (p.Pro291Leu) single nucleotide variant Inborn genetic diseases [RCV002945374] Chr3:150410222 [GRCh38]
Chr3:150128009 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1414C>T (p.Pro472Ser) single nucleotide variant Inborn genetic diseases [RCV002907189] Chr3:150410764 [GRCh38]
Chr3:150128551 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.414G>C (p.Gln138His) single nucleotide variant Inborn genetic diseases [RCV002688221] Chr3:150409764 [GRCh38]
Chr3:150127551 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.160G>A (p.Ala54Thr) single nucleotide variant Inborn genetic diseases [RCV002981788] Chr3:150409510 [GRCh38]
Chr3:150127297 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.2036A>T (p.Tyr679Phe) single nucleotide variant Inborn genetic diseases [RCV002844286] Chr3:150458401 [GRCh38]
Chr3:150176188 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.788C>T (p.Pro263Leu) single nucleotide variant Inborn genetic diseases [RCV002757814] Chr3:150410138 [GRCh38]
Chr3:150127925 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.8A>G (p.Lys3Arg) single nucleotide variant Inborn genetic diseases [RCV002737107] Chr3:150409358 [GRCh38]
Chr3:150127145 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1799C>G (p.Pro600Arg) single nucleotide variant Inborn genetic diseases [RCV002706893] Chr3:150411149 [GRCh38]
Chr3:150128936 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.955C>T (p.Pro319Ser) single nucleotide variant Inborn genetic diseases [RCV002887241] Chr3:150410305 [GRCh38]
Chr3:150128092 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.953G>A (p.Gly318Glu) single nucleotide variant Inborn genetic diseases [RCV002758814] Chr3:150410303 [GRCh38]
Chr3:150128090 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1316C>T (p.Pro439Leu) single nucleotide variant Inborn genetic diseases [RCV002709511] Chr3:150410666 [GRCh38]
Chr3:150128453 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.337G>C (p.Val113Leu) single nucleotide variant Inborn genetic diseases [RCV002764423] Chr3:150409687 [GRCh38]
Chr3:150127474 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.230A>T (p.Asp77Val) single nucleotide variant Inborn genetic diseases [RCV002803305] Chr3:150409580 [GRCh38]
Chr3:150127367 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.391C>G (p.Pro131Ala) single nucleotide variant Inborn genetic diseases [RCV003003812] Chr3:150409741 [GRCh38]
Chr3:150127528 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1285G>A (p.Ala429Thr) single nucleotide variant Inborn genetic diseases [RCV002984089] Chr3:150410635 [GRCh38]
Chr3:150128422 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.317G>T (p.Gly106Val) single nucleotide variant Inborn genetic diseases [RCV002666488] Chr3:150409667 [GRCh38]
Chr3:150127454 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1472C>A (p.Pro491Gln) single nucleotide variant Inborn genetic diseases [RCV002696473] Chr3:150410822 [GRCh38]
Chr3:150128609 [GRCh37]
Chr3:3q25.1
likely benign
NM_001303264.2(TSC22D2):c.945G>C (p.Gln315His) single nucleotide variant Inborn genetic diseases [RCV002668761] Chr3:150410295 [GRCh38]
Chr3:150128082 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1574C>A (p.Ser525Tyr) single nucleotide variant Inborn genetic diseases [RCV002668900] Chr3:150410924 [GRCh38]
Chr3:150128711 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1619A>G (p.Gln540Arg) single nucleotide variant Inborn genetic diseases [RCV002935975] Chr3:150410969 [GRCh38]
Chr3:150128756 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.353C>A (p.Ala118Asp) single nucleotide variant Inborn genetic diseases [RCV002669927] Chr3:150409703 [GRCh38]
Chr3:150127490 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1267G>A (p.Gly423Ser) single nucleotide variant Inborn genetic diseases [RCV002769386] Chr3:150410617 [GRCh38]
Chr3:150128404 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1584G>A (p.Met528Ile) single nucleotide variant Inborn genetic diseases [RCV002678946] Chr3:150410934 [GRCh38]
Chr3:150128721 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.2246A>G (p.Gln749Arg) single nucleotide variant Inborn genetic diseases [RCV003181168] Chr3:150458611 [GRCh38]
Chr3:150176398 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.508G>T (p.Gly170Trp) single nucleotide variant Inborn genetic diseases [RCV003184233] Chr3:150409858 [GRCh38]
Chr3:150127645 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1036G>A (p.Val346Met) single nucleotide variant Inborn genetic diseases [RCV003175963] Chr3:150410386 [GRCh38]
Chr3:150128173 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1907T>C (p.Leu636Pro) single nucleotide variant Inborn genetic diseases [RCV003196222] Chr3:150411257 [GRCh38]
Chr3:150129044 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.961G>A (p.Gly321Arg) single nucleotide variant Inborn genetic diseases [RCV003195749] Chr3:150410311 [GRCh38]
Chr3:150128098 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.977C>G (p.Pro326Arg) single nucleotide variant Inborn genetic diseases [RCV003190047] Chr3:150410327 [GRCh38]
Chr3:150128114 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.2215G>A (p.Ala739Thr) single nucleotide variant Inborn genetic diseases [RCV003200667] Chr3:150458580 [GRCh38]
Chr3:150176367 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.731G>C (p.Ser244Thr) single nucleotide variant Inborn genetic diseases [RCV003207112] Chr3:150410081 [GRCh38]
Chr3:150127868 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.1885C>A (p.Gln629Lys) single nucleotide variant Inborn genetic diseases [RCV003360105] Chr3:150411235 [GRCh38]
Chr3:150129022 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.337G>T (p.Val113Leu) single nucleotide variant Inborn genetic diseases [RCV003348496] Chr3:150409687 [GRCh38]
Chr3:150127474 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.73A>G (p.Ser25Gly) single nucleotide variant Inborn genetic diseases [RCV003386553] Chr3:150409423 [GRCh38]
Chr3:150127210 [GRCh37]
Chr3:3q25.1
uncertain significance
NM_001303264.2(TSC22D2):c.652C>T (p.Leu218=) single nucleotide variant not provided [RCV003434773] Chr3:150410002 [GRCh38]
Chr3:150127789 [GRCh37]
Chr3:3q25.1
likely benign
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29
pathogenic
NM_001303264.2(TSC22D2):c.366G>A (p.Ala122=) single nucleotide variant not provided [RCV003434772] Chr3:150409716 [GRCh38]
Chr3:150127503 [GRCh37]
Chr3:3q25.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4379
Count of miRNA genes:1120
Interacting mature miRNAs:1441
Transcripts:ENST00000361136, ENST00000361875, ENST00000460316, ENST00000466814, ENST00000480589, ENST00000485421, ENST00000492828
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-77462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,142,086 - 150,142,251UniSTSGRCh37
Build 363151,624,776 - 151,624,941RGDNCBI36
Celera3148,555,120 - 148,555,285RGD
Cytogenetic Map3q25.1UniSTS
HuRef3147,515,819 - 147,515,984UniSTS
TNG Radiation Hybrid Map384817.0UniSTS
GeneMap99-GB4 RH Map3560.7UniSTS
D20S995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,177,459 - 150,177,566UniSTSGRCh37
Build 363151,660,149 - 151,660,256RGDNCBI36
Celera3148,590,491 - 148,590,598RGD
Cytogenetic Map3q25.1UniSTS
HuRef3147,551,123 - 147,551,230UniSTS
SHGC-57438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,128,785 - 150,128,903UniSTSGRCh37
Build 363151,611,475 - 151,611,593RGDNCBI36
Celera3148,541,821 - 148,541,939RGD
Cytogenetic Map3q25.1UniSTS
HuRef3147,502,519 - 147,502,637UniSTS
TNG Radiation Hybrid Map384840.0UniSTS
STS-D20422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,177,464 - 150,177,587UniSTSGRCh37
Build 363151,660,154 - 151,660,277RGDNCBI36
Celera3148,590,496 - 148,590,619RGD
Cytogenetic Map3q25.1UniSTS
HuRef3147,551,128 - 147,551,251UniSTS
TNG Radiation Hybrid Map384812.0UniSTS
GeneMap99-GB4 RH Map3550.53UniSTS
NCBI RH Map31312.4UniSTS
SHGC-77469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,152,159 - 150,152,387UniSTSGRCh37
Build 363151,634,849 - 151,635,077RGDNCBI36
Celera3148,565,191 - 148,565,419RGD
Cytogenetic Map3q25.1UniSTS
TNG Radiation Hybrid Map385774.0UniSTS
GeneMap99-GB4 RH Map3570.22UniSTS
NCBI RH Map31322.4UniSTS
AAT071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373150,163,036 - 150,163,217UniSTSGRCh37
Celera3148,576,068 - 148,576,249UniSTS
HuRef3147,536,705 - 147,536,886UniSTS


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
Medium 677 868 402 89 219 89 1025 388 710 147 888 767 13 283 663 3
Low 1760 2025 1324 533 1640 376 3331 1806 3022 272 570 846 161 921 2125 2
Below cutoff 97 2 92 3 2 2 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001303264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA040291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB014569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF201290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF201291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF201292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU736250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000361875   ⟹   ENSP00000354543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,408,298 - 150,466,422 (+)Ensembl
RefSeq Acc Id: ENST00000460316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,456,951 - 150,459,128 (+)Ensembl
RefSeq Acc Id: ENST00000466814   ⟹   ENSP00000417747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,411,009 - 150,460,116 (+)Ensembl
RefSeq Acc Id: ENST00000480589   ⟹   ENSP00000418149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,410,969 - 150,458,861 (+)Ensembl
RefSeq Acc Id: ENST00000485421   ⟹   ENSP00000420689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,411,179 - 150,458,679 (+)Ensembl
RefSeq Acc Id: ENST00000492828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,423,039 - 150,423,451 (+)Ensembl
RefSeq Acc Id: ENST00000688009   ⟹   ENSP00000510392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3150,408,298 - 150,466,422 (+)Ensembl
RefSeq Acc Id: NM_001303264   ⟹   NP_001290193
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,408,298 - 150,466,422 (+)NCBI
CHM1_13150,089,196 - 150,140,980 (+)NCBI
T2T-CHM13v2.03153,159,594 - 153,217,686 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014779   ⟹   NP_055594
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,408,298 - 150,466,422 (+)NCBI
GRCh373150,126,101 - 150,177,906 (+)NCBI
Build 363151,609,478 - 151,660,321 (+)NCBI Archive
Celera3148,539,824 - 148,590,663 (+)RGD
HuRef3147,500,522 - 147,551,293 (+)ENTREZGENE
CHM1_13150,089,196 - 150,140,980 (+)NCBI
T2T-CHM13v2.03153,159,594 - 153,217,686 (+)NCBI
Sequence:
RefSeq Acc Id: NR_130136
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,408,298 - 150,466,422 (+)NCBI
CHM1_13150,089,196 - 150,140,980 (+)NCBI
T2T-CHM13v2.03153,159,594 - 153,217,686 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513337   ⟹   XP_011511639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,408,298 - 150,423,451 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054348584   ⟹   XP_054204559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03153,159,594 - 153,180,952 (+)NCBI
RefSeq Acc Id: XR_007095779
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,408,298 - 150,457,132 (+)NCBI
RefSeq Acc Id: XR_007095780
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,408,298 - 150,457,132 (+)NCBI
RefSeq Acc Id: XR_008486869
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03153,159,594 - 153,208,405 (+)NCBI
RefSeq Acc Id: XR_008486870
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03153,159,594 - 153,208,405 (+)NCBI
RefSeq Acc Id: NP_055594   ⟸   NM_014779
- Peptide Label: isoform 1
- UniProtKB: Q9H2Z7 (UniProtKB/Swiss-Prot),   Q9H2Z6 (UniProtKB/Swiss-Prot),   Q6PI50 (UniProtKB/Swiss-Prot),   D3DNI5 (UniProtKB/Swiss-Prot),   Q9H2Z8 (UniProtKB/Swiss-Prot),   O75157 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001290193   ⟸   NM_001303264
- Peptide Label: isoform 2
- UniProtKB: O75157 (UniProtKB/Swiss-Prot),   B4DN36 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511639   ⟸   XM_011513337
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000417747   ⟸   ENST00000466814
RefSeq Acc Id: ENSP00000354543   ⟸   ENST00000361875
RefSeq Acc Id: ENSP00000418149   ⟸   ENST00000480589
RefSeq Acc Id: ENSP00000420689   ⟸   ENST00000485421
RefSeq Acc Id: ENSP00000510392   ⟸   ENST00000688009
RefSeq Acc Id: XP_054204559   ⟸   XM_054348584
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75157-F1-model_v2 AlphaFold O75157 1-780 view protein structure

Promoters
RGD ID:6865980
Promoter ID:EPDNEW_H6155
Type:initiation region
Name:TSC22D2_1
Description:TSC22 domain family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6156  EPDNEW_H6157  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,408,298 - 150,408,358EPDNEW
RGD ID:6865982
Promoter ID:EPDNEW_H6156
Type:initiation region
Name:TSC22D2_2
Description:TSC22 domain family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6155  EPDNEW_H6157  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,408,641 - 150,408,701EPDNEW
RGD ID:6865984
Promoter ID:EPDNEW_H6157
Type:initiation region
Name:TSC22D2_3
Description:TSC22 domain family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6155  EPDNEW_H6156  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383150,411,045 - 150,411,105EPDNEW
RGD ID:6801213
Promoter ID:HG_KWN:46464
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000361875,   UC003EXW.1,   UC003EXX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363151,608,216 - 151,611,512 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29095 AgrOrtholog
COSMIC TSC22D2 COSMIC
Ensembl Genes ENSG00000196428 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361875 ENTREZGENE
  ENST00000361875.8 UniProtKB/Swiss-Prot
  ENST00000466814.1 UniProtKB/TrEMBL
  ENST00000480589.1 UniProtKB/TrEMBL
  ENST00000485421.1 UniProtKB/TrEMBL
  ENST00000688009 ENTREZGENE
  ENST00000688009.1 UniProtKB/Swiss-Prot
Gene3D-CATH Single helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196428 GTEx
HGNC ID HGNC:29095 ENTREZGENE
Human Proteome Map TSC22D2 Human Proteome Map
InterPro TSC-22_Dip_Bun UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TSC22/BUN_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9819 UniProtKB/Swiss-Prot
NCBI Gene 9819 ENTREZGENE
OMIM 617724 OMIM
PANTHER TSC22 DOMAIN FAMILY PROTEIN 2 UniProtKB/Swiss-Prot
  TSC22 DOMAIN FAMILY PROTEIN 2 UniProtKB/Swiss-Prot
  TSC22 DOMAIN FAMILY PROTEIN 2 UniProtKB/TrEMBL
  TSC22 DOMAIN FAMILY PROTEIN 2 UniProtKB/TrEMBL
Pfam TSC22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670697 PharmGKB
PROSITE TSC22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Delta-sleep-inducing peptide immunoreactive peptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DN36 ENTREZGENE, UniProtKB/TrEMBL
  D3DNI5 ENTREZGENE
  H0Y865_HUMAN UniProtKB/TrEMBL
  H0Y8E9_HUMAN UniProtKB/TrEMBL
  H7C4U3_HUMAN UniProtKB/TrEMBL
  O75157 ENTREZGENE
  Q6PI50 ENTREZGENE
  Q9H2Z6 ENTREZGENE
  Q9H2Z7 ENTREZGENE
  Q9H2Z8 ENTREZGENE
  T22D2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DNI5 UniProtKB/Swiss-Prot
  Q6PI50 UniProtKB/Swiss-Prot
  Q9H2Z6 UniProtKB/Swiss-Prot
  Q9H2Z7 UniProtKB/Swiss-Prot
  Q9H2Z8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TSC22D2  TSC22 domain family member 2    TSC22 domain family, member 2  Symbol and/or name change 5135510 APPROVED