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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TTC30B Gene

protein-coding GIFtS: 45
GCID: GC02M178414

tetratricopeptide repeat domain 30B

Explore 1 disease affiliated with
TTC30B 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
Tetratricopeptide Repeat Domain 30B¹ ²
IFT70¹ ²
Fleer¹
TPR Repeat Protein 30B² ³
FLJ30990¹
Tetratricopeptide Repeat Protein 30B²

External Ids:	HGNC: 26425¹	Entrez Gene: 150737²	Ensembl: ENSG00000196659⁷	UniProtKB: Q8N4P2³

Export aliases for TTC30B gene to outside databases

Previous GC identifers: GC02M178123 GC02M170285

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

UniProtKB/Swiss-Prot: TT30B_HUMAN, Q8N4P2

Function: Required for polyglutamylation of axonemal tubulin (By similarity). Plays a role in anterograde

intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to

the site of their incorporation at the tip (By similarity)

(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_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TTC30B gene promoter:
GATA-3 AP-1 CUTL1 Nkx2-5 Tal-1beta GATA-2 GATA-1 C/EBPalpha AREB6 NRF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TTC30B promoter sequence

Search SABiosciences Chromatin IP Primers for TTC30B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC30B

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

Entrez Gene cytogenetic band: 2q31.2 Ensembl cytogenetic band: 2q31.2 HGNC cytogenetic band: 2q31.2

TTC30B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC30B gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M178414: view genomic region (about GC identifiers)

Start:	178,414,880 bp from pter	End:	178,417,742 bp from pter
Size:	2,863 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: TT30B_HUMAN, Q8N4P2 (See protein sequence)

Recommended Name: Tetratricopeptide repeat protein 30B

Size: 665 amino acids; 76099 Da

Subcellular location: Cell projection, cilium (By similarity)

Secondary accessions: Q63HQ1 Q96NE6

Explore the universe of human proteins at neXtProt for TTC30B: NX_Q8N4P2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N4P2

TTC30B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_689730.2

ENSEMBL proteins:

ENSP00000386181

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	Uscn Proteins for TTC30B

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:0005929	cilium	IEA	--

TTC30B 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

TTC30B for domains About GeneDecksing

4 InterPro domains/families:

IPR011990 TPR-like_helical

IPR013105 TPR_2

IPR013026 TPR-contain_dom

IPR019734 TPR_repeat

Graphical View of Domain Structure for InterPro Entry Q8N4P2

ProtoNet protein and cluster: Q8N4P2

UniProtKB/Swiss-Prot: TT30B_HUMAN, Q8N4P2

Similarity: Belongs to the TTC30/dfy-1/fleer family

Similarity: Contains 8 TPR repeats

(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: TT30B_HUMAN, Q8N4P2

Function: Required for polyglutamylation of axonemal tubulin (By similarity). Plays a role in anterograde

intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to

the site of their incorporation at the tip (By similarity)

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		8 QIAGEN miScript miRNA Assays for microRNAs that regulate TTC30B:
		hsa-miR-520d-5p hsa-miR-7-2* hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-7-1* hsa-miR-524-5p hsa-miR-29b

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In Situ Assay
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(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 TTC30B

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for TTC30B (Q8N4P2^{2, 3} ENSP00000386181⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
B9D2	Q9BPU9²^,³, ENSP00000243578⁴	MINT-8201154 MINT-8201211 MINT-8201254 I2D: score=1 STRING: ENSP00000243578
INVS	Q9Y283², ENSP00000262457⁴	MINT-8201254 STRING: ENSP00000262457
--	Q62559²	MINT-8201226 MINT-8201133

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030030	cell projection organization	IEA	--

TTC30B 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 TTC30B
Search CenterWatch for drugs/clinical trials and news about TTC30B / TT30B

(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,
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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 TTC30B gene:

NM_152517.2

Unigene Cluster for TTC30B:

Tetratricopeptide repeat domain 30B

Hs.447659 [show with all ESTs]

Unigene Representative Sequence: NM_152517

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000408939(uc002uln.3)

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		hsa-miR-520d-5p hsa-miR-7-2* hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-miR-7-1* hsa-miR-524-5p hsa-miR-29b

		SwitchGear 3'UTR luciferase reporter plasmid: TTC30B 3' UTR sequence

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Additional cDNA sequence:

AK055552.1 AK296828.1 BC033795.1 BX647620.1

3 DOTS entries:

DT.408679 DT.100772734 DT.40127420

21 AceView cDNA sequences:

CN479088 AI753091 BU677421 BC033795 AW007843 T09225 BP358443 BP349950

BI820832 BX647620 AI498353 AI950953 Z43201 Z39281 BE869325 R54175

AW117691 H11753 BF306312 H11832 AW999001

GeneLoc Exon Structure

(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

TTC30B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGAACTTTG

About this image

TTC30B expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TTC30B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TTC30B

SOURCE GeneReport for Unigene cluster: Hs.447659

SABiosciences Custom PCR Arrays for TTC30B

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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 animals.

Orthologs for TTC30B gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TTC30A⁶	Uncharacterized protein	76(a)	1 → many	7(16782259-16784310)
lizard (Anolis carolinensis)	Reptilia	--	--	75(a)	1 → many	GL343411.1(299296-301326)
zebrafish (Danio rerio)	Actinopterygii	flr¹	fleer	71.27(n) 78.29(a)		797829 NM_001104649.2 NP_001098119.2
fruit fly (Drosophila melanogaster)	Insecta	CG5142¹	CG5142	53.67(n) 48.11(a)		34702 NM_001103685.3 NP_001097155.2
worm (Caenorhabditis elegans)	Secernentea	dyf-1¹	Protein DYF-1	55.12(n) 50.31(a)		172122 NM_059093.4 NP_491494.2

ENSEMBL Gene Tree for TTC30B (if available)
TreeFam Gene Tree for TTC30B (if available)

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

Paralogs for TTC30B gene

TTC30A²

1 SIMAP similar gene for TTC30B using alignment to 1 protein entry: TT30B_HUMAN:

TTC30A

TTC30B 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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs188412070^1,2		--	178414452(+)	`TCCAAA/TTAACT`	1	--	ds500¹		0	--	--	--	--
rs138902793^1,2	C,	--	178414453(+)	`CAAAT-/TGAACTC`	1	--	ds500¹		0	--	--	--	--
rs192485658^1,2		--	178414469(+)	`AGTTGC/TGGACA`	1	--	ds500¹		0	--	--	--	--
rs2293474^1,2	C,F,H,	--	178414617(+)	`AAGAAC/TTGAGA`	1	--	ds500¹		8		NS EA	966
rs1852530^1,2	C,F,H,	--	178414641(-)	`CTGGCG/ACAAAT`	1	--	ds500¹		18		NS EA NA WA CSA	797
rs116569564^1,2		--	178414913(+)	`CTACAT/CTATAG`	1	--	ut3¹		1		NA	120
rs16865342^1,2	C,	--	178415000(+)	`TGGTTA/GGGTAA`	1	--	ut3¹		4		NA EA	262
rs202064871^1,2		--	178415366(+)	`GCTAC-/TTTTTT`	1	--	ut3¹		0	--	--	--	--
rs75542649^1,2		--	178415384(+)	`AATGCA/GTAAGT`	1	--	ut3¹		0	--	--	--	--
rs1046370^1,2	C,	--	178415441(-)	`GCATCG/ACTTTA`	1	--	ut3¹		4		MN NA WA	424

HapMap Linkage Disequilibrium report for TTC30B (178414880 - 178417742 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TTC30B: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TTC30B

DNA2.0 Custom Variant and Variant Library Synthesis for TTC30B

(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

TTC30B for disorders About GeneDecksing

1 disease for TTC30B: About MalaCards

neuronitis

Export disorders for TTC30B 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 TTC30B gene integrated from 9 sources:
(articles sorted by number of sources associating them with TTC30B)

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

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)

(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: 150737	HGNC: 26425	AceView: FLJ30990	Ensembl:ENSG00000196659	euGenes: HUgn150737
ECgene: TTC30B	H-InvDB: TTC30B

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for TTC30B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TTC30B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TTC30B gene:
Search GeneIP for patents involving TTC30B

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	OriGene Custom Antibody Services for TTC30B		OriGene Custom Protein Services for TTC30B
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	GenScript Custom Purified and Recombinant Proteins Services for TTC30B		GenScript cDNA clones with any tag delivered in your preferred vector for TTC30B
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	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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	SwitchGear 3'UTR luciferase reporter plasmids for TTC30B
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ThermoFisher Antibodies for TTC30B

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC30B

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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TTC30B Gene

tetratricopeptide repeat domain 30B

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Export list of displayed genes

TTC30B Gene

tetratricopeptide repeat domain 30B

Aliasesfor TTC30B gene

Summariesfor TTC30B gene

Genomic Viewsfor TTC30B gene

Proteinsfor TTC30B gene

Protein Domains /Familiesfor TTC30B gene

Functionfor TTC30B gene

Pathways & Interactionsfor TTC30B gene

Drugs & Compoundsfor TTC30B gene

Transcriptsfor TTC30B gene

Expression for TTC30B gene

Orthologsfor TTC30B gene

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Genomic Variantsfor TTC30B gene

Disorders / Diseasesfor TTC30B gene

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External Searches for TTC30B gene

Genome Databases showing TTC30B gene

Other Databases showing TTC30B gene

Specialized Databases showing TTC30B gene

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Aliases
for TTC30B gene

Summaries
for TTC30B gene

Genomic Views
for TTC30B gene

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for TTC30B gene

Protein Domains /
Families
for TTC30B gene

Function
for TTC30B gene

Pathways & Interactions
for TTC30B gene

Drugs & Compounds
for TTC30B gene

Transcripts
for TTC30B gene

Expression
for TTC30B gene

Orthologs
for TTC30B gene

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Genomic Variants
for TTC30B gene

Disorders / Diseases
for TTC30B gene

Publications
for TTC30B gene

Intellectual Property
for TTC30B gene

Products
for TTC30B gene