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TSC22D1 Gene

protein-coding GIFtS: 63
GCID: GC13M045007

TSC22 Domain Family, Member 1

(Previous name: transforming growth factor beta 1 induced transcript 4)
(Previous symbol: TGFB1I4)

See TSC22D1-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
TSC22 Domain Family, Member 1¹ ²		Transforming Growth Factor Beta 1 Induced Transcript 4¹
TGFB1I4¹ ² ³		Ptg-2²
TSC22² ³ ⁵		TGFbeta-Stimulated Clone 22²
Cerebral Protein 2² ³		Transcriptional Regulator TSC-22²
Regulatory Protein TSC-22² ³		Transforming Growth Factor Beta-Stimulated Protein TSC-22²
Transforming Growth Factor Beta-1-Induced Transcript 4 Protein² ³		TSC22 Domain Family Protein 1²
TGFB-Stimulated Clone 22 Homolog² ³		KIAA1994³

External Ids:	HGNC: 16826¹	Entrez Gene: 8848²	Ensembl: ENSG00000102804⁷	OMIM: 607715⁵	UniProtKB: Q15714³

Export aliases for TSC22D1 gene to outside databases

Previous GC identifers: GC13M043906 GC13M025809

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TSC22D1 Gene:

This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein

is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including

C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the

induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been

associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have

been observed for this gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for TSC22D1 Gene:

TSC22D1 (TSC22 domain family, member 1) is a protein-coding gene. Diseases associated with TSC22D1 include diabetic nephropathy, and lung adenoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TSC22D3.

UniProtKB/Swiss-Prot: T22D1_HUMAN, Q15714

Function: Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter

Gene Wiki entry for TSC22D1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NC_000013.10 NT_024524.15 NC_018924.2

Regulatory elements:

Regulatory transcription factor binding sites in the TSC22D1 gene promoter:
Oct-B1 Bach1 USF1 Spz1 oct-B2 oct-B3 USF2 Nkx2-5 SRY POU2F1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TSC22D1 promoter sequence

Search Chromatin IP Primers for TSC22D1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TSC22D1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q14 Ensembl cytogenetic band: 13q14.11 HGNC cytogenetic band: 13q14

TSC22D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSC22D1 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M045007: view genomic region (about GC identifiers)

Start:	45,007,655 bp from pter	End:	45,151,283 bp from pter
Size:	143,629 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

UniProtKB/Swiss-Prot: T22D1_HUMAN, Q15714 (See protein sequence)

Recommended Name: TSC22 domain family protein 1

Size: 1073 amino acids; 109677 Da

Subunit: Homodimer or heterodimer. Can form a heterodimer with TSC22D4

Sequence caution: Sequence=BAC02703.1; Type=Erroneous initiation;

Secondary accessions: B3KRL7 B9EGI0 O00666 Q6AHX5 Q6IBU1 Q8NCN1 Q96JS5

Alternative splicing: 4 isoforms: Q15714-1 Q15714-2 Q15714-3 Q15714-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TSC22D1: NX_Q15714

Explore proteomics data for TSC22D1 at MOPED

Post-translational modifications:

Ubiquitination² at Lys992

Modification sites at PhosphoSitePlus

See TSC22D1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (5 alternative transcripts):

NP_001230726.1 NP_001230727.1 NP_001230728.1 NP_006013.1 NP_904358.2

ENSEMBL proteins:

ENSP00000397435 ENSP00000261489 ENSP00000419864 ENSP00000417476 ENSP00000418739

ENSP00000437414

TSC22D1 Human Recombinant Protein Products:

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	Browse Proteins at Cloud-Clone Corp.
	Search eBioscience for Proteins for TSC22D1
	Search GeneTex for Proteins for TSC22D1
	antibodies-online proteins for TSC22D1 (5 products)
	antibodies-online peptides for TSC22D1

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TSC22D1 Assay Products:

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	antibodies-online kits for TSC22D1 (8 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
About This Section

1 InterPro protein domain:

IPR000580 TSC-22_Dip_Bun

Graphical View of Domain Structure for InterPro Entry Q15714

ProtoNet protein and cluster: Q15714

1 Blocks protein domain: IPB000580 TSC-22 / Dip / Bun family

UniProtKB/Swiss-Prot: T22D1_HUMAN, Q15714

Similarity: Belongs to the TSC-22/Dip/Bun family

Find genes that share domains with TSC22D1 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: T22D1_HUMAN, Q15714

Function: Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter

Induction: In aortic endothelial cells, induced by cytokines, including TGFB1

Gene Ontology (GO): 2 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0005515	protein binding	IPI	18325344

Find genes that share ontologies with TSC22D1 About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for TSC22D1:

Decreased viability with carbo

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tsc22d1):

cardiovascular system

hematopoietic system

renal/urinary system

Find genes that share phenotypes with TSC22D1 About GenesLikeMe

Animal Models:
MGI mouse knock-out Tsc22d1^tm1Clgr for TSC22D1

genOway: Develop your customized and physiologically relevant rodent model for TSC22D1

miRNA Products:		miRTarBase miRNAs that target TSC22D1: hsa-mir-100-5p (MIRT048416)

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		Selected qRT-PCR Assays for microRNAs that regulate TSC22D1 (see all 20):
		hsa-miR-4291 hsa-miR-429 hsa-miR-488 hsa-miR-301a hsa-miR-519a hsa-miR-1244 hsa-miR-200b hsa-miR-130b

		SwitchGear 3'UTR luciferase reporter plasmid: TSC22D1 3' UTR sequence

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		Predesigned siRNA for gene silencing in human, mouse, rat TSC22D1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for TSC22D1

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		GenScript: all cDNA clones in your preferred vector (see all 2): TSC22D1 (NM_006022)
		Sino Biological Human cDNA Clone for TSC22D1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for TSC22D1
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for TSC22D1
		Browse ESI BIO Cell Lines and PureStem Progenitors for TSC22D1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSC22D1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

T22D1_HUMAN, Q15714: Cytoplasm (By similarity). Nucleus (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	3
nucleus	3

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--

Find genes that share ontologies with TSC22D1 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for TSC22D1 About

See pathways by source

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by

SuperPath

Contained pathways About

Development_TGF-beta receptor signaling

Development_TGF-beta receptor signaling

Pathways by source See SuperPaths
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for TSC22D1

Development TGF-beta receptor signaling

Pathway & Disease-focused RT² Profiler PCR Array including TSC22D1:

TGFB/BMP Signaling Pathway in human mouse rat

Interactions:

GeneGlobe Interaction Network for TSC22D1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for TSC22D1 (Q15714^{1, 2, 3} ENSP00000397435⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 179)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TPT1	P13693¹^,²^,³, ENSP00000368350⁴	EBI-712609,EBI-1783169 MINT-6173240 MINT-6173217 MINT-6173253 MINT-6173270 MINT-6173230 I2D: score=1 STRING: ENSP00000368350
DDAH2	O95865²^,³	MINT-8275314 I2D: score=2
ENSG00000206395	O95865²^,³	MINT-8275314 I2D: score=2
ENSG00000225635	O95865²^,³	MINT-8275314 I2D: score=2
ENSG00000226634	O95865²^,³	MINT-8275314 I2D: score=2

About this table

Gene Ontology (GO): 5 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-templated	--	--
GO:0006366	transcription from RNA polymerase II promoter	TAS	9022669
GO:0008284	positive regulation of cell proliferation	IEA	--
GO:0043065	positive regulation of apoptotic process	IEA	--
GO:0043066	negative regulation of apoptotic process	IEA	--

Find genes that share ontologies with TSC22D1 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for TSC22D1 (T22D1)

4 Novoseek inferred chemical compound relationships for TSC22D1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
vesnarinone	80.7	5	9459148 (4), 10879745 (1)
leucine	62.9	27	11836610 (6), 17394598 (1), 11944908 (1), 15379637 (1) (see all 10)
cycloheximide	21.9	1	9459148 (1)
5fluorouracil	14.2	2	10854535 (1), 10879745 (1)

Find genes that share compounds with TSC22D1 About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for TSC22D1 gene (8 alternative transcripts):

NM_001243797.1 NM_001243798.1 NM_001243799.1 NM_006022.3 NM_183422.3 XM_005266582.2 XM_005266583.2 XM_006719887.1

Unigene Cluster for TSC22D1:

TSC22 domain family, member 1

Hs.436383 [show with all ESTs]

Unigene Representative Sequence: NM_183422

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000458659(uc021riz.1 uc021rja.1 uc001uzn.4) ENST00000261489(uc001uzm.4)

ENST00000496314 ENST00000487881 ENST00000496838 ENST00000472477 ENST00000460842

ENST00000486464 ENST00000437455 ENST00000493016 ENST00000501704(uc001uzo.2)

miRNA Products:		Block miRNA regulation of human, mouse, rat TSC22D1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate TSC22D1 (see all 20):
		hsa-miR-4291 hsa-miR-429 hsa-miR-488 hsa-miR-301a hsa-miR-519a hsa-miR-1244 hsa-miR-200b hsa-miR-130b

		SwitchGear 3'UTR luciferase reporter plasmid: TSC22D1 3' UTR sequence

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		Predesigned siRNA for gene silencing in human, mouse, rat TSC22D1

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Primer Products:		OriGene qPCR primer pairs and template standards for TSC22D1 OriGene qSTAR qPCR primer pairs in human, mouse for TSC22D1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat TSC22D1
		QuantiTect SYBR Green Assays in human, mouse, rat TSC22D1
		QuantiFast Probe-based Assays in human, mouse, rat TSC22D1

Additional mRNA sequence:

AB082525.1 AJ222700.1 AK027071.1 AK091854.1 AK290751.1 AK312345.1 AY491432.1 BC000456.2

BC009528.2 BC016867.1 BC069207.1 BC105277.1 BC136475.1 BC136482.1 BC146664.1 BC146679.1

CR456711.1 CR627459.1 D38585.1 D87061.1 U35048.1 X97299.1

Selected DOTS entries (see all 40):

DT.100686485 DT.100033049 DT.100686495 DT.453491 DT.100686492 DT.92461789 DT.100686499 DT.100686510

DT.209525 DT.40306863 DT.100686509 DT.120791976 DT.405697 DT.120791898 DT.101967247 DT.95273362

DT.75189118 DT.100686490 DT.100686511 DT.120792133 DT.120792238 DT.97860973 DT.100686508 DT.120791994

Selected AceView cDNA sequences (see all 1195):

BE891096 AW024892 AI185770 BQ006227 BP343323 AL532560 CD743246 CB120688

CB118347 BU633390 BP372475 AA669051 AI924098 BQ267442 AI554437 CR609183

AA149819 CR625079 CB215996 BU626340 CR597685 BC000456 T09130 BU579822

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for TSC22D1 (see all 12) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9a	·	9b	·	9c	^	10a	·	10b	·	10c	^	11a	·	11b	·	11c	·	11d	·	11e	·	11f	^	12
SP1:															-		-		-		-		-				-		-		-		-
SP2:																	-		-		-		-				-		-		-		-
SP3:																			-		-		-				-		-		-		-
SP4:																							-				-		-		-		-
SP5:																							-						-		-		-

ECgene alternative splicing isoforms for TSC22D1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TSC22D1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTCTCTACAC

About this image

TSC22D1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 6) fully expand


Brain (Nervous System) fully expand to see all 4 entries
Cerebral Cortex

Neural Tube (Nervous System) fully expand to see all 2 entries
Telencephalon

Lung (Respiratory System)
Trachea

Liver (Hepatobiliary System)
Perivenous Hepatocytes Liver Lobule

Kidney (Urinary System)
Metanephros

TSC22D1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

TSC22D1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.436383

UniProtKB/Swiss-Prot: T22D1_HUMAN, Q15714

Tissue specificity: Widely expressed in fetal and adult tissues

Pathway & Disease-focused RT² Profiler PCR Array including TSC22D1:

TGFB/BMP Signaling Pathway in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for TSC22D1 OriGene qSTAR qPCR primer pairs in human, mouse for TSC22D1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat TSC22D1
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		QuantiFast Probe-based Assays in human, mouse, rat TSC22D1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSC22D1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TSC22D1 gene from Selected species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tsc22d1^{1 , 5}	TSC22 domain family, member 1^{1, 5}	87.36(n)¹ 86.52(a)¹		14 (40.44 cM)⁵ 21807¹ NM_207652.2¹ NP_997535.2¹ 76414961⁵
chicken (Gallus gallus)	Aves	TSC22D1¹	TSC22 domain family, member 1	73.33(n) 70.25(a)		396005 NM_001012760.1 NP_001012778.1
lizard (Anolis carolinensis)	Reptilia	TSC22D1⁶	TSC22 domain family, member 1	66(a)	1 ↔ 1	GL343395.1(503308-508899)
African clawed frog (Xenopus laevis)	Amphibia	Xl.8414²	Xenopus laevis transcribed sequence with moderate similarity more	78.29(n)		BJ063121.1
zebrafish (Danio rerio)	Actinopterygii	BC056321.1²	--	75.63(n)		BC056321.1
fruit fly (Drosophila melanogaster)	Insecta	bun⁶	bunched	18(a)	1 → many	2L(12455540-12546630)
worm (Caenorhabditis elegans)	Secernentea	C30G4.7⁶ T18D3.7⁶	Protein C30G4.7 (C30G4.7) mRNA, complete cds Protein T18D3.7, isoform a (T18D3.7) mRNA, complet...	37(a) 29(a)	many ↔ many many ↔ many	X(17056927-17058536) WBGene00016272 X(12434154-12443915) WBGene00011824

ENSEMBL Gene Tree for TSC22D1 (if available)
TreeFam Gene Tree for TSC22D1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for TSC22D1 gene

TSC22D3² TSC22D4² TSC22D2²

3 SIMAP similar genes for TSC22D1 using alignment to 4 protein entries: T22D1_HUMAN (see all proteins):

TSC22D3 TSC22D4 TSC22D2

Find genes that share paralogs with TSC22D1 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141406495^1,2	C	untested¹	25961793(+)	`CAGAGA/C/TGAGAC`	3	--	int¹		0	--	--	--	--
rs12584919^1,2	H	--	25820007(+)	`aaaaaA/Gaaaag`	3	--	int¹ trp³		0	--	--	--	--
rs147213755^1,2	C	--	25825821(+)	`AAAAC-/AAATAA`	3	--	int¹		0	--	--	--	--
rs71866571^1,2	C	--	25841675(+)	`GAAAA-/AAAC AACAA`	3	--	int¹		0	--	--	--	--
rs66544374^1,2	C	--	25853335(+)	`TAGATT/-TTTTT`	2	--	int¹		1		NA	2
rs35585479^1,2	C	--	25866632(+)	`AAAAA-/AT /T/TAAATAT`	2	--	int¹		0	--	--	--	--
rs35286764^1,2	C	--	25866634(+)	`AAAAAT/-ATATA`	2	--	int¹		1		NA	2
rs3046036^1,2	C	--	25887353(+)	`CACAC-/AC /ACACTTTTT`	2	--	int¹		0	--	--	--	--
rs66579073^1,2	C	--	25912671(-)	`TTTTT-/T/TTTT TTTTT`	2	--	int¹		1		NA	2
rs150455555^1,2	C	--	25922472(+)	`AATAC-/GTCGTGT`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TSC22D1 (45007655 - 45151283 bp)

Structural Variations
Database of Genomic Variants (DGV) 7 variations for TSC22D1: About this table

Variant ID	Type	Subtype	PubMed ID
esv2669361	CNV	Deletion	23128226
esv2747332	CNV	Deletion	23290073
esv2661792	CNV	Deletion	23128226
esv2677067	CNV	Deletion	23128226
esv273649	CNV	Insertion	20981092
esv271017	CNV	Insertion	20981092
esv23675	CNV	Loss	19812545

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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OMIM gene information: 607715 OMIM disorders: --

2 diseases for TSC22D1:
About MalaCards

diabetic nephropathy lung adenoma

1 inferred disease relationship from the University of Copenhagen DISEASES database for TSC22D1:

Lung adenoma

Find genes that share disorders with TSC22D1 About GenesLikeMe

7 Novoseek inferred disease relationships for TSC22D1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
salivary gland cancer	92.7	18	11836610 (3), 9458104 (2), 11944908 (2), 15379637 (2) (see all 8)
astrocytoma	29.4	3	16404353 (2), 12501169 (1)
diabetic nephropathies	26.1	5	17622752 (3), 12757981 (2)
tumors	20.4	43	18288391 (9), 16404353 (4), 12501169 (4), 9458104 (2) (see all 11)
brain tumors	18.3	2	12501169 (2)
prostate cancer	10.3	2	18375761 (1), 16106424 (1)
cancer	0	3	15379637 (1), 17273735 (1), 16106424 (1)

Genetic Association Database (GAD): TSC22D1
Human Genome Epidemiology (HuGE) Navigator: TSC22D1 (2 documents)

Export disorders for TSC22D1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for TSC22D1 gene, integrated from 10 sources (see all 74):
(articles sorted by number of sources associating them with TSC22D1)

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Molecular cloning and characterization of a transcription factor for the C-type natriuretic peptide gene promoter. (PubMed id 9022669)^{1, 2, 3, 9} Ohta S.... Nagata K. (Eur. J. Biochem. 1996)
Cloning of the human homologue of the TGF beta-stimulated clone 22 gene. (PubMed id 8651929)^{1, 2, 3, 9} Jay P....Berta P. (Biochem. Biophys. Res. Commun. 1996)
TGF-beta1 and TSC-22 gene polymorphisms and susceptibility to microvascular complications in type 2 diabetes. (PubMed id 17622752)^{1, 4, 9} Buraczynska M....Ksiazek A. (Nephron Physiol 2007)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PubMed id 12056414)^{1, 2} Ohara O.... Koseki H. (DNA Res. 2002)
Transforming growth factor-beta-stimulated clone-22 is a member of a family of leucine zipper proteins that can homo- and heterodimerize and has transcriptional repressor activity. (PubMed id 10488076)^{1, 2} Kester H.A....van der Burg B. (J. Biol. Chem. 1999)
The characteristics of different types of mRNA expressed in the human brain. (PubMed id 9026990)^{1, 2} Dmitrenko V.V....Kavsan V.M. (Cyt. Genet. 1996)
Leucine zipper structure of TSC-22 (TGF-beta stimulated clone-22) markedly inhibits the anchorage-independent growth of salivary gland cancer cells. (PubMed id 11836610)^{1, 9} Hino S....Fujimori T. (Oncol. Rep. 2002)
Expression and cellular localization of TSC-22 in normal salivary glands and salivary gland tumors: implications for tumor cell differentiation. (PubMed id 18288391)^{1, 9} Doi Y....Imai Y. (Oncol. Rep. 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8848	HGNC: 16826	AceView: TGFB1I4.1	Ensembl:ENSG00000102804	euGenes: HUgn8848
ECgene: TSC22D1	H-InvDB: TSC22D1

(According to HUGE)
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HUGE: KIAA1994

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TSC22D1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TSC22D1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for TSC22D1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for TSC22D1 gene:
Search GeneIP for patents involving TSC22D1

GeneCards and IP:
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TSC22D1 Gene

TSC22 Domain Family, Member 1

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TSC22D1 Gene

TSC22 Domain Family, Member 1

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