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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CDRT4 Gene

protein-coding GIFtS: 38
GCID: GC17M015340

CMT1A duplicated region transcript 4

Explore 1 disease affiliated with
CDRT4 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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
CMT1A Duplicated Region Transcript 4¹ ²
FLJ36674¹
CMT1A Duplicated Region Transcript 4 Protein²

External Ids:	HGNC: 14383¹	Entrez Gene: 284040²	Ensembl: ENSG00000239704⁷	UniProtKB: Q8N9R6³

ORGUL members:
	NONCODE:n410674

Export aliases for CDRT4 gene to outside databases

Previous GC identifers: GC17U990288 GC17M015281

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

(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_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CDRT4 gene promoter:
c-Fos AP-1 JunB Fra-1 FosB HSF1 (long) HNF-3beta JunD HSF1short c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CDRT4 promoter sequence

Search SABiosciences Chromatin IP Primers for CDRT4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDRT4

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

Entrez Gene cytogenetic band: 17p12 Ensembl cytogenetic band: 17p12 HGNC cytogenetic band: 17p12

CDRT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDRT4 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M015340: view genomic region (about GC identifiers)

Start:	15,339,332 bp from pter	End:	15,408,394 bp from pter
Size:	69,063 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: CDRT4_HUMAN, Q8N9R6 (See protein sequence)

Recommended Name: CMT1A duplicated region transcript 4 protein

Size: 151 amino acids; 17514 Da

Secondary accessions: A8MSL9 Q8IZ19

Explore the universe of human proteins at neXtProt for CDRT4: NX_Q8N9R6

CDRT4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001191406.1

ENSEMBL proteins:

ENSP00000310031 ENSP00000452374 ENSP00000451667

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

ProtoNet protein and cluster: Q8N9R6

(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

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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 CDRT4

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for CDRT4 (ENSP00000310031⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

(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 CDRT4
Search CenterWatch for drugs/clinical trials and news about CDRT4

(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 CDRT4 gene (2 alternative transcripts):

NM_173622.3 NM_001204477.1

Unigene Cluster for CDRT4:

CMT1A duplicated region transcript 4

Hs.731765 [show with all ESTs]

Unigene Representative Sequence: NM_001204477

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

ENST00000312177(uc002gop.2) ENST00000519354 ENST00000520956 ENST00000524205

ENST00000519864

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Additional cDNA sequence:

AK093993.1 AK172733.1 BC029542.1

5 DOTS entries:

DT.86857981 DT.97845854 DT.92059462 DT.97837269 DT.91685688

24/174 AceView cDNA sequences (see all 174):

AW025663 AV702789 AW297656 AA565398 BE466091 AI659095 T16750 BF434193

BM718842 AA057498 CB113085 AA746000 CA446264 AA732358 BM541393 AW303919

CA308727 BQ180889 Z39202 BX478671 AI342069 AA877968 BM680724 AI205524

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

CDRT4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAATGTTTT

About this image

CDRT4 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: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CDRT4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CDRT4

SOURCE GeneReport for Unigene cluster: Hs.731765

UniProtKB/Swiss-Prot: CDRT4_HUMAN, Q8N9R6

Tissue specificity: Expressed in fetal skeletal muscle and kidney

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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 human and mouse.

Orthologs for CDRT4 gene from 1/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cdrt4^{1 , 5}	CMT1A duplicated region transcript 4^{1, 5}	63.18(n)¹ 50.75(a)¹		11 (38.84 cM)⁵ 66338¹ NM_025496.1¹ NP_079772.1¹ 62951193⁵

ENSEMBL Gene Tree for CDRT4 (if available)
TreeFam Gene Tree for CDRT4 (if available)

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

(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 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs4405592^1,2	F,H	--	15232719(+)	`ACCTAG/AAAAGA`	1	--	int¹		4		NS EA	412
rs113541780^1,2	C,	--	15233016(+)	`ACATGC/-CTTGT`	1	--	ut3¹		1		CSA	2
rs113258451^1,2	C,	--	15233492(+)	`CAATAC/-CAGGT`	1	--	ut3¹		1		CSA	2
rs58411281^1,2	C,F,	--	15233635(+)	`AGGCTC/TAGCCC`	1	--	ut3¹		5		WA CSA	125
rs79777922^1,2		--	15233645(+)	`CCCAGC/GGGGAG`	1	--	ut3¹		0	--	--	--	--
rs76051377^1,2	C,	--	15233792(+)	`CACCCC/AGGCAG`	1	--	ut3¹		1		NA	2
rs116361416^1,2	C,F,	--	15233801(+)	`AGTGGC/TAACTC`	1	--	ut3¹		1		WA	118
rs114593351^1,2	C,F,	--	15234149(+)	`TTACTG/ATCACC`	1	--	ut3¹		1		WA	118
rs75800378^1,2	C,F,	--	15234339(+)	`TACAGC/TTTGCA`	1	--	ut3¹		1		WA	118
rs78593311^1,2	F,	--	15234447(+)	`TGTACG/CTTCTT`	1	--	ut3¹		1		WA	118

HapMap Linkage Disequilibrium report for CDRT4 (15339332 - 15408394 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for CDRT4
1 CNV: 49816
2 Indels: 45506 41689

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(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

CDRT4 for disorders About GeneDecksing

1 disease for CDRT4: About MalaCards

pulmonary function

Export disorders for CDRT4 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 CDRT4 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CDRT4)

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

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. (PubMed id 11381029)^{1, 2, 3} Inoue K.... Birren B. (2001)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)¹ Wilk J.B....O'Connor G.T. (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)
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)² Zody M.C.... Nusbaum C. (2006)
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)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)

(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: 284040	HGNC: 14383	AceView: LOC201158	Ensembl:ENSG00000239704	euGenes: HUgn284040
ECgene: CDRT4	H-InvDB: CDRT4

(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 CDRT4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CDRT4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CDRT4 gene:
Search GeneIP for patents involving CDRT4

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),
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About This Section


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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

Hot genes Disease genes CDRT4 gene at Home site.

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CDRT4 Gene

CMT1A duplicated region transcript 4

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CDRT4 Gene

CMT1A duplicated region transcript 4

Aliasesfor CDRT4 gene

Summariesfor CDRT4 gene

Genomic Viewsfor CDRT4 gene

Proteinsfor CDRT4 gene

Protein Domains /Familiesfor CDRT4 gene

Functionfor CDRT4 gene

Pathways & Interactionsfor CDRT4 gene

Drugs & Compoundsfor CDRT4 gene

Transcriptsfor CDRT4 gene

Expression for CDRT4 gene

Orthologsfor CDRT4 gene

Paralogsfor CDRT4 gene

Genomic Variantsfor CDRT4 gene

Disorders / Diseasesfor CDRT4 gene

Publicationsfor CDRT4 gene

External Searches for CDRT4 gene

Genome Databases showing CDRT4 gene

Other Databases showing CDRT4 gene

Specialized Databases showing CDRT4 gene

Intellectual Propertyfor CDRT4 gene

Productsfor CDRT4 gene

View Random Gene

Aliases
for CDRT4 gene

Summaries
for CDRT4 gene

Genomic Views
for CDRT4 gene

Proteins
for CDRT4 gene

Protein Domains /
Families
for CDRT4 gene

Function
for CDRT4 gene

Pathways & Interactions
for CDRT4 gene

Drugs & Compounds
for CDRT4 gene

Transcripts
for CDRT4 gene

Expression
for CDRT4 gene

Orthologs
for CDRT4 gene

Paralogs
for CDRT4 gene

Genomic Variants
for CDRT4 gene

Disorders / Diseases
for CDRT4 gene

Publications
for CDRT4 gene

Intellectual Property
for CDRT4 gene

Products
for CDRT4 gene