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TLDC1 Gene

protein-coding GIFtS: 41
GCID: GC16M084510

TBC/LysM-Associated Domain Containing 1

(Previous name: KIAA1609)
(Previous symbol: KIAA1609)

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disease database

(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
TBC/LysM-Associated Domain Containing 1¹ ²
KIAA1609¹ ² ³
TLD Domain Containing 1¹ ²
TBC/LysM-Associated Domain-Containing Protein 1² ³
TLD Domain-Containing Protein 1²

External Ids:	HGNC: 29325¹	Entrez Gene: 57707²	Ensembl: ENSG00000140950⁷	UniProtKB: Q6P9B6³

Export aliases for TLDC1 gene to outside databases

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

GeneCards Summary for TLDC1 Gene:

TLDC1 (TBC/LysM-associated domain containing 1) is a protein-coding gene. An important paralog of this gene is OXR1.

(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_000016.9 NT_010498.16 NC_018927.2

Regulatory elements:

Search for regulatory transcription factor binding sites for TLDC1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search Chromatin IP Primers for TLDC1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TLDC1

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

Entrez Gene cytogenetic band: 16q24.1 Ensembl cytogenetic band: 16q24.1 HGNC cytogenetic band: 16q24.1

TLDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TLDC1 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M084510: view genomic region (about GC identifiers)

Start:	84,509,966 bp from pter	End:	84,587,639 bp from pter
Size:	77,674 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: TLDC1_HUMAN, Q6P9B6 (See protein sequence)

Recommended Name: TLD domain-containing protein 1

Size: 456 amino acids; 50994 Da

Sequence caution: Sequence=BAB13435.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: Q8IZ64 Q9HCG3 Q9NTE8

Explore the universe of human proteins at neXtProt for TLDC1: NX_Q6P9B6

Explore proteomics data for TLDC1 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See TLDC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_065998.3

ENSEMBL proteins:

ENSP00000343635 ENSP00000454265 ENSP00000455332 ENSP00000457557 ENSP00000457115

ENSP00000455557 ENSP00000441997

TLDC1 Human Recombinant Protein Products:

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	antibodies-online peptides for TLDC1

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

1 InterPro protein domain:

IPR006571 TLDc

Graphical View of Domain Structure for InterPro Entry Q6P9B6

ProtoNet protein and cluster: Q6P9B6

UniProtKB/Swiss-Prot: TLDC1_HUMAN, Q6P9B6

Similarity: Contains 1 TLD domain

Find genes that share domains with TLDC1 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

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16189514

Find genes that share ontologies with TLDC1 About GenesLikeMe

Animal Models:

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(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

Gene Ontology (GO): 1 cellular component term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005765	lysosomal membrane	IDA	17897319

Find genes that share ontologies with TLDC1 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

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for TLDC1
Interactions:

Search GeneGlobe Interaction Network for TLDC1

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

Selected Interacting proteins for TLDC1 (Q6P9B6^{1, 3} ENSP00000343635⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TRIP13	Q15645¹^,³, ENSP00000166345⁴	EBI-746504,EBI-358993 I2D: score=4 STRING: ENSP00000166345
EIF5A	P63241³	I2D: score=5
H2AFJ	Q9BTM1³	I2D: score=5
LZTS3	O60299³	I2D: score=5
C6orf211	Q9H993³	I2D: score=3

About this table

(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

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(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 TLDC1 gene (5 alternative transcripts):

NM_020947.3 XM_005256074.1 XM_005256075.1 XM_005256077.1 XM_006721240.1

Unigene Cluster for TLDC1:

TBC/LysM-associated domain containing 1

Hs.288274 [show with all ESTs]

Unigene Representative Sequence: NM_020947

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

ENST00000343629(uc002fib.3 uc010vod.2) ENST00000566995 ENST00000570036

ENST00000567321 ENST00000561807 ENST00000565079 ENST00000562447 ENST00000565701

ENST00000565765 ENST00000535580

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Additional mRNA sequence:

AK291237.1 AK297241.1 AK310887.1 AL137316.1 BC023251.1 BC060844.1

13 DOTS entries:

DT.452459 DT.91912634 DT.100817790 DT.120708617 DT.206241 DT.100817788 DT.100817791 DT.95354751

DT.100835140 DT.91675769 DT.120708663 DT.100802090 DT.97781874

Selected AceView cDNA sequences (see all 110):

CR614446 AI499212 BF222108 AA604558 AW117603 BQ009692 N99979 AA195017

AA636129 CA392378 CN479317 AA864757 AI302714 BM926970 BI856840 BX109780

BG252234 CB160601 BQ425289 BX505041 Z44147 BX363387 BI091129 BC060844

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for TLDC1 (see all 10) About this scheme

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

ExUns:	11
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for TLDC1

(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

TLDC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

TLDC1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

TLDC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.288274

Custom PCR Arrays for TLDC1

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In Situ
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(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 eukaryotes.

Orthologs for TLDC1 gene from Selected species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	4632415K11Rik⁵ Tldc1¹	RIKEN cDNA 4632415K11 gene⁵ TBC/LysM associated domain containing 1¹	73.42(n)¹ 65.64(a)¹		8 (68.32 cM)⁵ 74347¹ NM_028883.2¹ NP_083159.1¹ 119760587⁵
chicken (Gallus gallus)	Aves	KIAA1609¹	KIAA1609	64.69(n) 60.66(a)		415815 NM_001030575.1 NP_001025746.1
lizard (Anolis carolinensis)	Reptilia	TLDC1⁶	TBC/LysM-associated domain containing 1	53(a)	1 ↔ 1	GL343849.1(19683-36734)
tropical clawed frog (Xenopus tropicalis)	Amphibia	tldc1¹	TBC/LysM-associated domain containing 1	57.76(n) 50.55(a)		100496378 XM_004913594.1 XP_004913651.1
zebrafish (Danio rerio)	Actinopterygii	tldc1¹	TBC/LysM-associated domain containing 1	54.98(n) 44.94(a)		561678 NM_001044965.2 NP_001038430.2
fruit fly (Drosophila melanogaster)	Insecta	CG5149⁶	--	31(a)	1 ↔ 1	2L(7384486-7388248)
worm (Caenorhabditis elegans)	Secernentea	eak-7⁶	Protein EAK-7 (eak-7) mRNA, complete cds	23(a)	1 ↔ 1	IV(12563775-12566111) WBGene00010671
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G06260¹	AT5G06260	41.98(n) 29.88(a)		830513 NM_120708.3 NP_196244.1
rice (Oryza sativa)	Liliopsida	Os12g0157200¹	Os12g0157200	48.77(n) 35.79(a)		4351549 NM_001072732.1 NP_001066200.1

ENSEMBL Gene Tree for TLDC1 (if available)
TreeFam Gene Tree for TLDC1 (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 TLDC1 gene

OXR1² NCOA7² TLDC2²

3 SIMAP similar genes for TLDC1 using alignment to 7 protein entries: TLDC1_HUMAN (see all proteins):

KIAA1609 OXR1 C20orf118

Find genes that share paralogs with TLDC1 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 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12445663^1,2	C,F,H	--	84509467(+)	`gacccC/Attctt`	1	--	ds500¹		6		NA CSA WA EA	367
rs115817718^1,2	C,F	--	84509480(+)	`ACCCCC/GCTTCT`	1	--	ds500¹		1		WA	118
rs115325836^1,2	C,F	--	84509501(+)	`TTTGCA/GTAACA`	1	--	ds500¹		1		WA	118
rs34068665^1,2	C,F	--	84509512(+)	`AATACG/AGAGGG`	1	--	ds500¹		1		NA	2
rs183911963^1,2		--	84509534(+)	`TCAGGA/GCCCTT`	1	--	ds500¹		0	--	--	--	--
rs9928420^1,2	C,F	--	84509544(+)	`tgtccG/Actaga`	1	--	ds500¹		3		NA	6
rs113903085^1,2	F	--	84509611(+)	`ATTCCG/CATGTT`	1	--	ds500¹		1		CSA	2
rs187621769^1,2		--	84509636(+)	`GGTCCC/TCCTAG`	1	--	ds500¹		0	--	--	--	--
rs13333440^1,2	C,F,H	--	84509652(+)	`tgaggA/Gttact`	1	--	ds500¹		14		NS EA NA WA	1628
rs191020836^1,2		--	84509686(+)	`GAACCA/GGGTGC`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TLDC1 (84509966 - 84587639 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for TLDC1: --

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing TLDC1

DNA2.0 Custom Variant and Variant Library Synthesis for TLDC1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

(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)
About This Section

PubMed articles for TLDC1 gene, integrated from 10 sources (see all 16):
(articles sorted by number of sources associating them with TLDC1)

Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)^{1, 2, 3} Nagase T.... Ohara O. (DNA Res. 2000)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (Cell 2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (Mol. Cell 2011)
Strategy for comprehensive identification of human N-myristoylated proteins using an insect cell-free protein synthesis system. (PubMed id 20213681)² Suzuki T.... Utsumi T. (Proteomics 2010)
An empirical framework for binary interactome mapping. (PubMed id 19060904)¹ Venkatesan K....Vidal M. (Nat. Methods 2009)
Integral and associated lysosomal membrane proteins. (PubMed id 17897319)¹ Schroeder B.... Hasilik A. (Traffic 2007)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (BMC Genomics 2007)
Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)¹ Wang A.G....Kim N.S. (Biochem. Biophys. Res. Commun. 2006)
Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)¹ Rual J.F....Vidal M. (Nature 2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
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)
About This Section

Entrez Gene: 57707	HGNC: 29325	AceView: KIAA1609	Ensembl:ENSG00000140950	euGenes: HUgn57707
ECgene: TLDC1	H-InvDB: TLDC1

(According to HUGE)
About This Section

HUGE: KIAA1609

(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 TLDC1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TLDC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TLDC1 gene:
Search GeneIP for patents involving TLDC1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
About This Section


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GeneCards Home - Full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 2 Nov 2014 , 8 Jan 2015 , 3 Feb 2015

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Hot genes Disease genes TLDC1 gene at Home site.

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TLDC1 Gene

TBC/LysM-Associated Domain Containing 1

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Export list of displayed genes

TLDC1 Gene

TBC/LysM-Associated Domain Containing 1

Aliasesfor TLDC1 gene

Summariesfor TLDC1 gene

Genomic Viewsfor TLDC1 gene

Proteinsfor TLDC1 gene

TLDC1 Human Recombinant Protein Products:

TLDC1 Antibody Products:

TLDC1 Assay Products:

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Expression for TLDC1 gene

Orthologsfor TLDC1 gene

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Genome Databases showing TLDC1 gene

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Aliases
for TLDC1 gene

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for TLDC1 gene

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for TLDC1 gene

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for TLDC1 gene

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for TLDC1 gene

Function
for TLDC1 gene

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for TLDC1 gene

Pathways & Interactions
for TLDC1 gene

Drugs & Compounds
for TLDC1 gene

Transcripts
for TLDC1 gene

Expression
for TLDC1 gene

Orthologs
for TLDC1 gene

Paralogs
for TLDC1 gene

Genomic Variants
for TLDC1 gene

Disorders / Diseases
for TLDC1 gene

Publications
for TLDC1 gene

Intellectual Property
for TLDC1 gene

Products
for TLDC1 gene