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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC164 Gene

protein-coding GIFtS: 39
GCID: GC02P026625

coiled-coil domain containing 164

(Previous name: chromosome 2 open reading frame 39 )
(Previous symbol: C2orf39)

Explore 1 disease affiliated with
CCDC164 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 164¹ ²
C2orf39¹ ² ³
FLJ32660¹
MGC16372¹
Chromosome 2 Open Reading Frame 39¹
Coiled-Coil Domain-Containing Protein 164²

External Ids:	HGNC: 24245¹	Entrez Gene: 92749²	Ensembl: ENSG00000157856⁷	UniProtKB: Q96MC2³

Export aliases for CCDC164 gene to outside databases

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

UniProtKB/Swiss-Prot: CC164_HUMAN, Q96MC2

Function: Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Required for the

assembly and regulation of specific classes of inner dynein arm motors. May also function to restrict dynein-driven

microtubule sliding, thus aiding in the generation of ciliary bending

(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_022184.15

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for CCDC164
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for CCDC164

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC164

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

Entrez Gene cytogenetic band: 2p23.3 Ensembl cytogenetic band: 2p23.3 HGNC cytogenetic band: 2p23.3

CCDC164 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC164 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P026625: view genomic region (about GC identifiers)

Start:	26,624,784 bp from pter	End:	26,679,579 bp from pter
Size:	54,796 bases	Orientation:	plus 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: CC164_HUMAN, Q96MC2 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 164

Size: 740 amino acids; 87134 Da

Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme (By similarity)

Secondary accessions: A8K1N8 Q53R91 Q53TA3 Q8NDI5

Explore the universe of human proteins at neXtProt for CCDC164: NX_Q96MC2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96MC2

CCDC164 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_659475.2

ENSEMBL proteins:

ENSP00000288710 ENSP00000414375 ENSP00000413942 ENSP00000395215

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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: Q96MC2

UniProtKB/Swiss-Prot: CC164_HUMAN, Q96MC2

Similarity: Belongs to the CCDC164 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: CC164_HUMAN, Q96MC2

Function: Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Required for the

assembly and regulation of specific classes of inner dynein arm motors. May also function to restrict dynein-driven

microtubule sliding, thus aiding in the generation of ciliary bending

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1 GenomeRNAi human phenotype for CCDC164:

Decreased homologous recombina

(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 CCDC164

(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

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Search CenterWatch for drugs/clinical trials and news about CCDC164 / CC164

(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 CCDC164 gene:

NM_145038.2

Unigene Cluster for CCDC164:

Coiled-coil domain containing 164

Hs.393714 [show with all ESTs]

Unigene Representative Sequence: AK128286

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

ENST00000288710(uc010eym.1 uc002rhg.2) ENST00000421869 ENST00000487307

ENST00000497651 ENST00000442810 ENST00000483675 ENST00000439066

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Additional cDNA sequence:

AK057222.1 AK128286.1 AK289953.1 AK307094.1 AL833892.1 BC009488.2

4 DOTS entries:

DT.305827 DT.101956888 DT.120973533 DT.92051033

24/26 AceView cDNA sequences (see all 26):

BX107037 CA439240 AI275803 AI198699 BV205322 NM_145038 BP368938 AK057222

CB852135 AI807395 CB305825 BC009488 BI831978 BI562695 BM908084 AL833892

BE747297 AA936140 AA972333 AA813635 AW592665 AW182804 CD359048 BE620042

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC164 (see all 6) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18
SP1:					-				-								-
SP2:													-				-
SP3:					-				-				-
SP4:
SP5:

ECgene alternative splicing isoforms for CCDC164

(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

CCDC164 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAATACATA

About this image

CCDC164 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 CCDC164 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC164

SOURCE GeneReport for Unigene cluster: Hs.393714

SABiosciences Custom PCR Arrays for CCDC164

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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 animals.

Orthologs for CCDC164 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ccdc164^{1 , 5}	coiled-coil domain containing 164^{1, 5}	79.16(n)¹ 76.32(a)¹		5 (16.42 cM)⁵ 381738¹ NM_001033460.3¹ NP_001028632.1¹ 30341663⁵
chicken (Gallus gallus)	Aves	CCDC164¹	coiled-coil domain containing 164	62.65(n) 56.23(a)		422009 XM_420016.3 XP_420016.3
lizard (Anolis carolinensis)	Reptilia	CCDC164⁶	--	53(a)	1 ↔ 1	GL343951.1(38980-71201)
African clawed frog (Xenopus laevis)	Amphibia	MGC68877²	hypothetical protein MGC68877	74.94(n)		BC055987.1
zebrafish (Danio rerio)	Actinopterygii	ccdc164¹	coiled-coil domain containing 164	59.14(n) 48.85(a)		100034551 NM_001127468.1 NP_001120940.1
fruit fly (Drosophila melanogaster)	Insecta	CG10958¹	CG10958	43.74(n) 28.63(a)		31736 NM_132217.3 NP_572445.1

ENSEMBL Gene Tree for CCDC164 (if available)
TreeFam Gene Tree for CCDC164 (if available)

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

Paralogs for CCDC164 gene

CCDC65²

CCDC164 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
				--	--	--		--	--
rs35406128^1,2	C,	--	26622995(+)	`CTAGA-/GAGAGC`	1	--	us2k¹		1		NA	2
rs6710890^1,2	C,	--	26623016(+)	`gacaaG/Acttgg`	1	--	us2k¹		2		CSA WA	120
rs184334969^1,2		--	26623044(+)	`AGGGGA/TGAGGC`	1	--	us2k¹		0	--	--	--	--
rs189233943^1,2		--	26623049(+)	`TGAGGC/TTGGGA`	1	--	us2k¹		0	--	--	--	--
rs6713849^1,2	C,F,A,H,	--	26623160(+)	`GCTGCT/GTAAAA`	1	--	us2k¹		23		NS EA NA WA CSA	2348
rs78307603^1,2	F,	--	26623198(+)	`AAAAAT/CGGAGT`	1	--	us2k¹		1		EA	120
rs117926204^1,2	F,	--	26623216(+)	`CTTATA/TTAAAA`	1	--	us2k¹		1		EA	120
rs192780787^1,2		--	26623357(+)	`TATCCC/TACTCC`	1	--	us2k¹		0	--	--	--	--
rs141804133^1,2		--	26623374(+)	`TAGACA/GTGCGC`	1	--	us2k¹		0	--	--	--	--
rs73920271^1,2	C,	--	26623375(+)	`AGACAT/CGCGCA`	1	--	us2k¹		3		WA NA	240

HapMap Linkage Disequilibrium report for CCDC164 (26624784 - 26679579 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CCDC164: --

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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

CCDC164 for disorders About GeneDecksing

UniProtKB/Swiss-Prot: CC164_HUMAN, Q96MC2

Note=Defects in CCDC164 are the cause of primary ciliary dyskinesia. A disorder characterized by abnormalities

of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to

defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm

tails

1 disease for CCDC164: About MalaCards

malaria

Export disorders for CCDC164 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 CCDC164 gene integrated from 9 sources:
(articles sorted by number of sources associating them with CCDC164)

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

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
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 nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. (PubMed id 23354437)² Wirschell M....Omran H. (2013)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)

(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: 92749	HGNC: 24245	AceView: MGC16372	Ensembl:ENSG00000157856	euGenes: HUgn92749
ECgene: CCDC164	H-InvDB: CCDC164

(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 CCDC164	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC164 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC164 gene:
Search GeneIP for patents involving CCDC164

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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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
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CCDC164 Gene

coiled-coil domain containing 164

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CCDC164 Gene

coiled-coil domain containing 164

Aliasesfor CCDC164 gene

Summariesfor CCDC164 gene

Genomic Viewsfor CCDC164 gene

Proteinsfor CCDC164 gene

Protein Domains /Familiesfor CCDC164 gene

Functionfor CCDC164 gene

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Drugs & Compoundsfor CCDC164 gene

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Expression for CCDC164 gene

Orthologsfor CCDC164 gene

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Specialized Databases showing CCDC164 gene

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for CCDC164 gene

Summaries
for CCDC164 gene

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for CCDC164 gene

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for CCDC164 gene

Protein Domains /
Families
for CCDC164 gene

Function
for CCDC164 gene

Pathways & Interactions
for CCDC164 gene

Drugs & Compounds
for CCDC164 gene

Transcripts
for CCDC164 gene

Expression
for CCDC164 gene

Orthologs
for CCDC164 gene

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for CCDC164 gene

Genomic Variants
for CCDC164 gene

Disorders / Diseases
for CCDC164 gene

Publications
for CCDC164 gene

Intellectual Property
for CCDC164 gene

Products
for CCDC164 gene