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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TCTN3 Gene

protein-coding GIFtS: 48
GCID: GC10M097414

tectonic family member 3

(Previous name: chromosome 10 open reading frame 61 )
(Previous symbol: C10orf61)

Explore 1 disease affiliated with
TCTN3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tectonic Family Member 3¹ ²		Chromosome 10 Open Reading Frame 61¹
C10orf61¹ ² ³		JBTS18²
TECT3¹ ² ³		OFD4²
DKFZP564D116¹		Tectonic-3¹

External Ids:	HGNC: 24519¹	Entrez Gene: 26123²	Ensembl: ENSG00000119977⁷	OMIM: 613847⁵	UniProtKB: Q6NUS6³

Export aliases for TCTN3 gene to outside databases

Previous GC identifer: GC10M091050

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

Entrez Gene summary for TCTN3:

This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development

of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom

18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided

by RefSeq, Sep 2012)

UniProtKB/Swiss-Prot: TECT3_HUMAN, Q6NUS6

Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary

membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction

through the sonic hedgehog (Shh) signaling pathway

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TCTN3 gene promoter:
SRF GATA-3 SRF (504 AA) MEF-2 Brachyury CUTL1 GATA-1 E47 MEF-2A aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TCTN3 promoter sequence

Search SABiosciences Chromatin IP Primers for TCTN3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCTN3

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

Entrez Gene cytogenetic band: 10q24.1 Ensembl cytogenetic band: 10q24.1 HGNC cytogenetic band: 10q23.33

TCTN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCTN3 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M097414: view genomic region (about GC identifiers)

Start:	97,423,153 bp from pter	End:	97,454,712 bp from pter
Size:	31,560 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TECT3_HUMAN, Q6NUS6 (See protein sequence)

Recommended Name: Tectonic-3 precursor

Size: 607 amino acids; 66157 Da

Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity)

Subcellular location: Membrane; Single-pass type I membrane protein (Potential)

Sequence caution: Sequence=AAH68449.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=ABB90564.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC11567.1;

Type=Frameshift; Positions=238; Sequence=BAC87634.1; Type=Erroneous initiation; Note=Translation N-terminally

shortened; Sequence=CAI16768.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: A6NIC8 B0QZ90 B4DR81 Q6P7P3 Q6UW27 Q6ZQQ0 Q8N7K1 Q8NBQ0 Q96GF7 Q9Y3U1

Alternative splicing: 5 isoforms: Q6NUS6-1 Q6NUS6-2 Q6NUS6-3 Q6NUS6-4 Q6NUS6-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TCTN3: NX_Q6NUS6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6NUS6

TCTN3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001137445.1 NP_056446.4

ENSEMBL proteins:

ENSP00000360261 ENSP00000414756 ENSP00000360253 ENSP00000406621 ENSP00000265993

ENSP00000387567

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	Uscn Proteins for TCTN3

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

TCTN3 for ontologies About GeneDecksing

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

TCTN3 for domains About GeneDecksing

1 InterPro domain/family:

IPR011677 DUF1619

Graphical View of Domain Structure for InterPro Entry Q6NUS6

ProtoNet protein and cluster: Q6NUS6

UniProtKB/Swiss-Prot: TECT3_HUMAN, Q6NUS6

Similarity: Belongs to the tectonic family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TECT3_HUMAN, Q6NUS6

Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary

membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction

through the sonic hedgehog (Shh) signaling pathway

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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--

TCTN3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TCTN3:

Decreased Wnt reporter activit

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TCTN3

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006915	apoptotic process	IEA	--
GO:0007224	smoothened signaling pathway	IMP	--
GO:0060271	cilium morphogenesis	ISS	--

TCTN3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TCTN3
Search CenterWatch for drugs/clinical trials and news about TCTN3 / TECT3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TCTN3 gene (2 alternative transcripts):

NM_001143973.1 NM_015631.5

Unigene Cluster for TCTN3:

Tectonic family member 3

Hs.438991 [show with all ESTs]

Unigene Representative Sequence: AK128834

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

ENST00000371217 ENST00000480852(uc009xux.1) ENST00000443432(uc009xuy.1)

ENST00000467470 ENST00000371209(uc001kld.3) ENST00000424175 ENST00000497399

ENST00000478245 ENST00000265993(uc001klb.4) ENST00000430368(uc010qoi.2)

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Additional cDNA sequence:

AK075357.1 AK128834.1 AK299141.1 AL050022.1 AY359022.1 BC009494.2 BC061582.1 BC068449.1

DQ278872.1

24/26 DOTS entries (see all 26):

DT.100795314 DT.100723751 DT.100795315 DT.100795313 DT.80101860 DT.121262394 DT.100027070 DT.101984682

DT.121262475 DT.95159258 DT.121262626 DT.70101173 DT.100805088 DT.100795317 DT.121262430 DT.40125600

DT.40206293 DT.91798933 DT.92013965 DT.92017021 DT.92447851 DT.92447854 DT.95159257 DT.95159259

24/343 AceView cDNA sequences (see all 343):

AA039653 AA065234 AA677846 BC009494 AY359022 BE440014 BM744485 NM_015631

BG106304 AI363208 BX325416 BQ058846 BP376032 BM728527 AW239176 AA622048

BQ129369 CR615067 CA487173 BQ222883 BQ229236 AA232682 BE621319 BE617041

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TCTN3 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	^	5	^	6	^	7a	·	7b	^	8	^	9a	·	9b	^	10	^	11	^	12	^	13	^	14a	·	14b
SP1:													-														-				-
SP2:													-								-										-
SP3:													-														-		-		-
SP4:													-		-
SP5:

ECgene alternative splicing isoforms for TCTN3

(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 GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TCTN3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCAGAGAGC

About this image

TCTN3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Yolk Sac

Definitive Yolk Sac

Definitive Hematopoietic Stem Cells

Blood

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TCTN3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TCTN3

SOURCE GeneReport for Unigene cluster: Hs.438991

SABiosciences Custom PCR Arrays for TCTN3

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In Situ
Assay Products:

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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 chordates.

Orthologs for TCTN3 gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tctn3^{1 , 5}	tectonic family member 3^{1, 5}	79.45(n)¹ 73.65(a)¹		19 (34.25 cM)⁵ 67590¹ NM_026260.2¹ NP_080536.2¹ 40596446⁵
chicken (Gallus gallus)	Aves	LOC100857412¹	tectonic-3-like	62.83(n) 52.8(a)		100857412 XM_003641533.1 XP_003641581.1
lizard (Anolis carolinensis)	Reptilia	TCTN3⁶	--	47(a)	1 ↔ 1	3(38039767-38052093)

ENSEMBL Gene Tree for TCTN3 (if available)
TreeFam Gene Tree for TCTN3 (if available)

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

Paralogs for TCTN3 gene

TCTN1² TCTN2²

1 SIMAP similar gene for TCTN3 using alignment to 2 protein entries: TECT3_HUMAN (see all proteins):

TCTN1

TCTN3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78288794^1,2	C,F,	--	91050885(+)	`ATGAAC/TGGAAG`	2	--	ut3¹		1		WA	118
rs701891^1,2		--	91050929(-)	`CTTTTC/TTACTA`	2	--	ut3¹ ese³ trp³		2		MN NA	186
rs1064654^1,2	C,H	--	91050934(-)	`GCTTTC/TTTTTC`	2	--	ut3¹ trp³		6		MN NS EA NA	604
rs14997^1,2	F,	--	91051003(+)	`CTGGGC/GAAAGG`	2	--	ut3¹		2		MN WA	302
rs6946^1,2	C,F,A,H,	--	91051388(-)	`ATAGAG/TGACCT`	2	--	ut3¹ ese³		16		MN EA NA NS CSA WA	1786
rs77275545^1,2	C,	--	91051677(+)	`CTTCTG/TGGTAA`	4	K Q	mis¹		0	--	--	--	--
rs75941316^1,2		--	91052062(+)	`TCTATC/GAGAAG`	2	--	int¹		0	--	--	--	--
rs61871796^1,2	C,F,	--	91053010(+)	`ACTGCC/ACCCGG`	2	--	int¹		3		NA CSA	6
rs11188421^1,2	H	--	91053185(+)	`GTGAAT/CGAAGA`	2	--	int¹		4		NS EA	420
rs57713066^1,2	C,	--	91053206(+)	`GTTTAA/GCAAAA`	2	--	int¹		2		WA	120

HapMap Linkage Disequilibrium report for TCTN3 (97423153 - 97454712 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TCTN3: --
Human Gene Mutation Database (HGMD): TCTN3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TCTN3

DNA2.0 Custom Variant and Variant Library Synthesis for TCTN3

(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.)
About This Section

TCTN3 for disorders About GeneDecksing

OMIM gene information: 613847 OMIM disorders: --

UniProtKB/Swiss-Prot: TECT3_HUMAN, Q6NUS6

Defects in TCTN3 are the cause of orofaciodigital syndrome 4 (OFD4) [MIM:258860]. A form of orofaciodigital

syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and

associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue

nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski

syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic

dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected

patients

Defects in TCTN3 are the cause of Joubert syndrome 18 (JBTS18) [MIM:614815]. A form of Joubert syndrome, a

disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and

psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and

reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a

molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal

disease. JBTS18 patients have vermis agenesis and the molar tooth sign as well as severe kyphoscoliosis. Other

features include intrauterine growth retardation, oral anomalies, micrognathism, polydactyly and camptodactyly, joint

laxity, horseshoe kidney, and ventricular septal defect. Note=TCTN3-mutated fibroblasts from JBTS18 patients fail to

respond to Shh agonists suggesting that at least some of the defects in affected individuals may be secondary to

reduced Shh signaling (PubMed:22883145)

1 disease for TCTN3: About MalaCards

alzheimer's disease

1 disease from the University of Copenhagen DISEASES database for TCTN3:

Polydactyly

Human Genome Epidemiology (HuGE) Navigator: TCTN3 (1 document)

Export disorders for TCTN3 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)
About This Section

PubMed articles for TCTN3 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with TCTN3)

Utopia: connect your pdf to the dynamic
world of online information

The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{1, 2, 3} Clark H.F.... Gray A.M. (2003)
TCTN3 mutations cause Mohr-Majewski syndrome. (PubMed id 22883145)^{1, 2} Thomas S.... Attie-Bitach T. (2012)
Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. (PubMed id 16357211)^{1, 2} Reiter J.F. and Skarnes W.C. (2006)
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. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
Proteomic identification of common SCF ubiquitin ligas e FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)¹ Liu B....Wang L.S. (2012)
Identification of novel regulators of apoptosis using a high- throughput cell-based screen. (PubMed id 17464193)² Park K.M.... Kim S.J. (2007)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)¹ Grupe A....Goate A. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 26123	HGNC: 24519	AceView: C10orf61	Ensembl:ENSG00000119977	euGenes: HUgn26123
ECgene: TCTN3	H-InvDB: TCTN3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for TCTN3	Pharmacogenomics, SNPs, Pathways

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