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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC19 Gene

protein-coding GIFtS: 44
GCID: GC01M159842

coiled-coil domain containing 19

Explore 4 diseases affiliated with
CCDC19 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
Coiled-Coil Domain Containing 19¹ ²
NESG1¹ ² ³ ⁵
Nasopharyngeal Epithelium-Specific Protein 1² ³
Coiled-Coil Domain-Containing Protein 19, Mitochondrial²
Nasopharyngeal Epithelium Specific Protein 1 (NESG1)²

External Ids:	HGNC: 17229¹	Entrez Gene: 25790²	Ensembl: ENSG00000213085⁷	OMIM: 605152⁵	UniProtKB: Q9UL16³

Export aliases for CCDC19 gene to outside databases

Previous GC identifers: GC01M156656 GC01M158109 GC01M158110 GC01M131198

(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_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC19 gene promoter:
GATA-3 AP-1 MyoD Pax-2 Pax-2a STAT5A Tal-1beta GATA-2 GATA-1 ITF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC19 promoter sequence

Search SABiosciences Chromatin IP Primers for CCDC19

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC19

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

Entrez Gene cytogenetic band: 1q22 Ensembl cytogenetic band: 1q23.2 HGNC cytogenetic band: 1q23.2

CCDC19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC19 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M159842: view genomic region (about GC identifiers)

Start:	159,842,154 bp from pter	End:	159,869,953 bp from pter
Size:	27,800 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: CCD19_HUMAN, Q9UL16 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 19, mitochondrial precursor

Size: 551 amino acids; 65730 Da

Subcellular location: Mitochondrion (Potential)

Sequence caution: Sequence=AAD55817.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=AAD55817.1; Type=Frameshift; Positions=441;

Secondary accessions: Q5VU18

Explore the universe of human proteins at neXtProt for CCDC19: NX_Q9UL16

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UL16

CCDC19 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_036469.2

ENSEMBL proteins:

ENSP00000357079 ENSP00000403044

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	Uscn Proteins for CCDC19

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005634	nucleus	NAS	10524255
GO:0005739	mitochondrion	IEA	--

CCDC19 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

ProtoNet protein and cluster: Q9UL16

(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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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 CCDC19

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

2 Interacting proteins for CCDC19 (Q9UL16³ ENSP00000357079⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
H2AFX	P16104³, ENSP00000364310⁴	I2D: score=1 STRING: ENSP00000364310
ELAVL1	ENSP00000385269⁴	STRING: ENSP00000385269

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 CCDC19
Search CenterWatch for drugs/clinical trials and news about CCDC19 / CCD19

(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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About This Section

REFSEQ mRNAs for CCDC19 gene:

NM_012337.2

Unigene Cluster for CCDC19:

Coiled-coil domain containing 19

Hs.647705 [show with all ESTs]

Unigene Representative Sequence: BC089391

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

ENST00000479861 ENST00000476696(uc009wtb.3 uc001fuj.3 uc009wtc.1)

ENST00000368099(uc001fui.3) ENST00000475911 ENST00000479940 ENST00000426543(uc001fuk.3)

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Additional cDNA sequence:

AF094758.1 AK225566.1 AK225582.1 AK292249.1 AK308262.1 BC027874.1 BC064386.1 BC089391.1

BC109055.1

7 DOTS entries:

DT.40277206 DT.97776770 DT.100722143 DT.121405826 DT.101976853 DT.121405960 DT.121405835

24/1765 AceView cDNA sequences (see all 1765):

BQ695217 CF272193 CR622397 BU542637 CR594260 AI081997 CA450467 CR610006

BG762160 AW512217 BI766613 BP340175 BM564199 BP338524 BQ672357 CR604118

BQ948140 BU735707 BM914368 BU528081 CR603278 BU552535 CA405634 AL553010

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

CCDC19 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGAGAAGG

About this image

CCDC19 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

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

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CCDC19 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC19

SOURCE GeneReport for Unigene cluster: Hs.647705

UniProtKB/Swiss-Prot: CCD19_HUMAN, Q9UL16

Tissue specificity: Expressed in nasopharyngeal epithelium and trachea but not in esophagus, stomach, large intestine,

liver, cerebrum, heart, bladder, kidney, thymus, or lung

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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 CCDC19 gene from 6/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CCDC19¹	coiled-coil domain containing 19	66.15(n) 57.81(a)		426452 XM_424097.3 XP_424097.3
lizard (Anolis carolinensis)	Reptilia	CCDC19⁶	--	56(a)	1 ↔ 1	GL344387.1(31929-43695)
African clawed frog (Xenopus laevis)	Amphibia	BX852496.1²	--	72.38(n)		BX852496.1
zebrafish (Danio rerio)	Actinopterygii	wufc64b08²	wufc64b08	74.21(n)		325276 57051219
fruit fly (Drosophila melanogaster)	Insecta	CG11449¹	CG11449	43.9(n) 26.85(a)		40467 NM_141133.1 NP_649390.1
worm (Caenorhabditis elegans)	Secernentea	ajm-1⁶ sdc-2⁶	Apical Junction Molecule family member (ajm-1) Sex determination and Dosage Compensation defect f...	4(a) 2(a)	possible ortholog 1 ↔ 1	X(9098290-9113562) X(11522647-11533384)

ENSEMBL Gene Tree for CCDC19 (if available)
TreeFam Gene Tree for CCDC19 (if available)

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

Paralogs for CCDC19 gene

CCDC11² MNS1² CCDC173² TCHP²

CCDC19 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 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs142654422^1,2	C,F	other	159857654(+)	`CTCCTC/G/TCTCCT`	3	K Q E	mis¹		2		NA EU	5875
rs185140853^1,2		--	159841664(+)	`TGGGCA/CTGTGT`	1	--	ds500¹		0	--	--	--	--
rs149354994^1,2		--	159841700(+)	`GAAAGA/GGTTCT`	1	--	ds500¹		0	--	--	--	--
rs144698361^1,2		--	159841739(+)	`GAGCCC/GCAGGT`	1	--	ds500¹		0	--	--	--	--
rs148580713^1,2		--	159841764(+)	`CTCCAC/TAGATG`	1	--	ds500¹		0	--	--	--	--
rs190829978^1,2		--	159841948(+)	`CAAGAC/TTGTGA`	1	--	ds500¹		0	--	--	--	--
rs182019868^1,2		--	159842031(+)	`AAAGAA/GCATCT`	1	--	ds500¹		0	--	--	--	--
rs2494518^1,2	C,F,A,H,	--	159842088(+)	`CCCCAA/TCCTAT`	1	--	ds500¹		16		NS EA NA WA CSA	754
rs11265289^1,2	C,F,A,H,	--	159842103(+)	`CTCCAC/TCTTCA`	1	--	ds500¹		20		NS EA NA WA	2346
rs146108911^1,2		--	159842130(+)	`ACATTC/TCCACA`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CCDC19 (159842154 - 159869953 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CCDC19: --

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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

CCDC19 for disorders           About GeneDecksing

OMIM gene information: 605152    OMIM disorders: --

4 diseases for CCDC19:    About MalaCards

nasopharyngitis nasopharynx carcinoma hepatocellular carcinoma carcinoma

1 disease from the University of Copenhagen DISEASES database for CCDC19:

Nasopharynx carcinoma

Export disorders for CCDC19 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 CCDC19 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC19)

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

Molecular cloning of a novel tissue-specific gene from human nasopharyngeal epithelium. (PubMed id 10524255)^{1, 2, 3} Li Z.... Cao Y. (1999)
Decreased expression of updated NESG1 in nasopharynge al carcinoma: its potential role and preliminarily functional mechanism. (PubMed id 20715168)¹ Liu Z....Fang W. (2011)
Potential tumor suppressor NESG1 as an unfavorable pro gnosis factor in nasopharyngeal carcinoma. (PubMed id 22140479)¹ Liu Z....Fang W. (2011)
Proteomic dissection of cell type-specific H2AX-inter acting protein complex associated with hepatocellular carcinoma. (PubMed id 20000738)¹ Yang X....Chen X. (2010)
Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (2009)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)² Gregory S.G.... Bentley D.R. (2006)
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)
Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)¹ Maruyama K. and Sugano S. (1994)
Proteomic profiling of glucocorticoid-exposed myogeni c cells: Time series assessment of protein translocation and transcription of i nactive mRNAs. (PubMed id 19642986)⁹ Reeves E.K....Hathout Y. (2009)

(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: 25790	HGNC: 17229	AceView: TAGLN2andNESG1andIGSF9	Ensembl:ENSG00000213085	euGenes: HUgn25790
ECgene: CCDC19	H-InvDB: CCDC19

(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 CCDC19	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC19 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC19 gene:
Search GeneIP for patents involving CCDC19

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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	GenScript Custom Purified and Recombinant Proteins Services for CCDC19		GenScript cDNA clones with any tag delivered in your preferred vector for CCDC19
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 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

Hot genes Disease genes CCDC19 gene at Home site.

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CCDC19 Gene

coiled-coil domain containing 19

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CCDC19 Gene

coiled-coil domain containing 19

Aliasesfor CCDC19 gene

Summariesfor CCDC19 gene

Genomic Viewsfor CCDC19 gene

Proteinsfor CCDC19 gene

Protein Domains /Familiesfor CCDC19 gene

Functionfor CCDC19 gene

Pathways & Interactionsfor CCDC19 gene

Drugs & Compoundsfor CCDC19 gene

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Expression for CCDC19 gene

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for CCDC19 gene

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for CCDC19 gene

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for CCDC19 gene

Function
for CCDC19 gene

Pathways & Interactions
for CCDC19 gene

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for CCDC19 gene

Transcripts
for CCDC19 gene

Expression
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