Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CCDC40 Gene

protein-coding GIFtS: 47
GCID: GC17P078010

coiled-coil domain containing 40

Explore 6 diseases affiliated with
CCDC40 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 40¹ ²
CILD15¹ ²
KIAA1640¹ ³
FLJ20753¹
FLJ32021¹
Coiled-Coil Domain-Containing Protein 40²

External Ids:	HGNC: 26090¹	Entrez Gene: 55036²	Ensembl: ENSG00000141519⁷	OMIM: 613799⁵	UniProtKB: Q4G0X9³

Export aliases for CCDC40 gene to outside databases

Previous GC identifers: GC17P075637 GC17P073449

(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 CCDC40:

This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis

formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control

ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility.

Alternative splicing results in multiple transcript variants. (provided by RefSeq, Aug 2011)

UniProtKB/Swiss-Prot: CCD40_HUMAN, Q4G0X9

Function: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are

responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not

required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39

(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_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CCDC40 gene promoter:
SREBP-1c AP-2gamma GATA-1 SREBP-1b RORalpha1 SREBP-1a AP-2beta AP-2alpha MRF-2 AP-2alphaA
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for CCDC40

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC40

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

Entrez Gene cytogenetic band: 17q25.3 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25.3

CCDC40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC40 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17P078010: view genomic region (about GC identifiers)

Start:	78,010,435 bp from pter	End:	78,074,412 bp from pter
Size:	63,978 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: CCD40_HUMAN, Q4G0X9 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 40

Size: 1142 amino acids; 130113 Da

Subcellular location: Cytoplasm (By similarity). Cell projection, cilium (By similarity). Note=Localizes to cytoplasm

and motile cilium (By similarity)

Sequence caution: Sequence=BAB13466.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: A8MTD2 C9JTI9 C9JTJ0 C9JXW1 Q6PE47 Q9HCD2 Q9NWL5

Alternative splicing: 5 isoforms: Q4G0X9-1 Q4G0X9-2 Q4G0X9-3 Q4G0X9-4 Q4G0X9-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC40: NX_Q4G0X9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q4G0X9

CCDC40 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001230271.1 NP_060420.2

ENSEMBL proteins:

ENSP00000380679 ENSP00000269318 ENSP00000364010 ENSP00000459489 ENSP00000460002

ENSP00000460432 ENSP00000461034 ENSP00000364011

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for CCDC40
	GenScript Custom Purified and Recombinant Proteins Services for CCDC40
	Novus Biologicals CCDC40 Protein Novus Biologicals CCDC40 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CCDC40

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	ISS	--
GO:0005929	cilium	ISS	--

CCDC40 for ontologies About GeneDecksing

CCDC40 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for CCDC40
	GenScript Custom Superior Antibodies Services for CCDC40
	Novus Biologicals CCDC40 Antibodies
	Search for Antibodies for CCDC40 at Abcam
	Uscn Antibodies for CCDC40
	ThermoFisher Antibodies for CCDC40

Assay Products for CCDC40:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CCDC40
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CCDC40

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

CCDC40 for domains About GeneDecksing

1 InterPro domain/family:

IPR013956 E3_ubiquit_lig_BRE1

Graphical View of Domain Structure for InterPro Entry Q4G0X9

ProtoNet protein and cluster: Q4G0X9

UniProtKB/Swiss-Prot: CCD40_HUMAN, Q4G0X9

Similarity: Belongs to the CCDC40 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: CCD40_HUMAN, Q4G0X9

Function: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are

responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not

required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39

miRNA Products:		OriGene 3'-UTR Clone: CCDC40 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC40
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CCDC40
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC40 (see all 7) OriGene shRNA RFP: CCDC40 OriGene siRNA: CCDC40
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC40

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CCDC40

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC40 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC40 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CCDC40 (NM_017950)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC40
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC40

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CCDC40
		Search LifeMap BioReagents cell lines for CCDC40

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC40

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:0003674	molecular_function	ND	--

CCDC40 for ontologies About GeneDecksing

Animal Models:
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ccdc40):

embryogenesis	growth/size	mortality/aging	nervous system	renal/urinary system
respiratory system

CCDC40 for phenotypes About GeneDecksing

(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 CCDC40

1 Interacting protein for CCDC40 (Q4G0X9³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAP2K5	Q13163³	I2D: score=2

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0060285	ciliary cell motility	IMP	--
GO:0060286	flagellar cell motility	IMP	--
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IMP	--
GO:0070286	axonemal dynein complex assembly	IMP	--

CCDC40 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 CCDC40
Search CenterWatch for drugs/clinical trials and news about CCDC40 / CCD40

(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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 CCDC40 gene (2 alternative transcripts):

NM_001243342.1 NM_017950.3

Unigene Cluster for CCDC40:

Coiled-coil domain containing 40

Hs.202542 [show with all ESTs]

Unigene Representative Sequence: NM_017950

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

ENST00000397545(uc010dht.3 uc002jxn.4) ENST00000572270 ENST00000269318

ENST00000374876(uc010wub.2) ENST00000576033 ENST00000574099 ENST00000572083

ENST00000576241 ENST00000573474 ENST00000574799(uc002jxm.4) ENST00000571028

ENST00000572253 ENST00000575431 ENST00000574933 ENST00000573903 ENST00000374877(uc021uem.1)

miRNA Products:		OriGene 3'-UTR Clone: CCDC40 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC40
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CCDC40
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC40 (see all 7) OriGene shRNA RFP: CCDC40 OriGene siRNA: CCDC40
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC40

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC40 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC40 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CCDC40 (NM_017950)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC40
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC40

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC40 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CCDC40
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC40
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC40

Additional cDNA sequence:

AB046860.1 AK000760.1 AK056583.1 AK130684.1 BC035251.1 BC058288.1

12 DOTS entries:

DT.97762761 DT.208063 DT.438063 DT.86836082 DT.95157274 DT.101967131 DT.40237038 DT.102826333

DT.91965710 DT.97825373 DT.99991067 DT.95086587

24/64 AceView cDNA sequences (see all 64):

AA383228 BF062469 AI537879 AI370331 AB046860 AL713758 AW589487 AA398274

AI002121 AV718925 BG773461 BU739446 BU157163 BI831460 BG610878 BI831172

BC058288 BM714469 AI872461 AK130684 AI191633 AL705485 BU172249 AK056583

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC40 (see all 12) About this scheme

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

ExUns:	13b	·	13c	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19	^	20	^	21a	·	21b	^	22a	·	22b
SP1:											-
SP2:											-												-
SP3:
SP4:											-												-
SP5:

ECgene alternative splicing isoforms for CCDC40

(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

CCDC40 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCCCATTTG

About this image

CCDC40 expression in embryonic tissues and stem cells

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

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Brain

Diencephalic Roof Plate

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

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

See CCDC40 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCDC40

SOURCE GeneReport for Unigene cluster: Hs.202542

SABiosciences Custom PCR Arrays for CCDC40

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC40 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CCDC40
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC40
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC40

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC40

(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 CCDC40 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ccdc40^{1 , 5}	coiled-coil domain containing 40^{1, 5}	72.08(n)¹ 64.09(a)¹		11 (83.35 cM)⁵ 207607¹ NM_175430.4¹ NP_780639.1¹ 119228572⁵
chicken (Gallus gallus)	Aves	CCDC40¹	coiled-coil domain containing 40	61.91(n) 50.92(a)		422083 XM_420086.2 XP_420086.2
lizard (Anolis carolinensis)	Reptilia	CCDC40⁶	--	51(a)	1 ↔ 1	2(100625477-100646935)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.11059²	Transcribed sequence with weak similarity to protein more	73.49(n)		141997335
zebrafish (Danio rerio)	Actinopterygii	ccdc40¹	coiled-coil domain containing 40	50.59(n) 39.16(a)		568590 XM_691926.5 XP_697018.5
fruit fly (Drosophila melanogaster)	Insecta	l(2)41Ab¹	lethal (2) 41Ab	38.58(n) 26.25(a)		5740691 NM_001110887.1 NP_001104357.1

ENSEMBL Gene Tree for CCDC40 (if available)
TreeFam Gene Tree for CCDC40 (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	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78746549^1,2	C,	--	73447870(+)	`CAACAT/GCCATT`	2	--	us2k¹		2	CSA WA	120
rs74000348^1,2	C,	--	73448720(+)	`AAGACC/TGCAAG`	2	--	us2k¹		2	WA	120
rs3752041^1,2	C,F,A,H,	--	73449937(-)	`NNNNGG/TTGAAC`	2	--	int¹		5	EA NA	1894
rs75984315^1,2	F,	--	73450919(+)	`TTCCTG/ATGCTA`	2	--	int¹		1	WA	118
rs56136831^1,2		--	73451702(+)	`CCTGGG/ATGACC`	2	--	int¹		2	NA	122
rs113041985^1,2	C,	--	73451751(+)	`CACGGG/TGACTC`	2	--	int¹		1	NA	2
rs113396249^1,2	C,	--	73451763(+)	`CGCCTG/ATAATT`	2	--	int¹		1	WA	2
rs112431937^1,2	C,	--	73452488(+)	`ACCCAG/AGAGGT`	2	--	int¹		1	WA	2
rs113467013^1,2	C,	--	73452705(+)	`GAGTTT/CAAGCA`	2	--	int¹		2	WA	120
rs2289526^1,2	C,F,H	--	73453055(+)	`CTGTCG/AGTAGC`	4	/S /G	mis¹ ese³		9	NS EA NA	952

HapMap Linkage Disequilibrium report for CCDC40 (78010435 - 78074412 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for CCDC40
2 CNVs: 2235 23532
1 Indel: 40208
Human Gene Mutation Database (HGMD): CCDC40

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCDC40

DNA2.0 Custom Variant and Variant Library Synthesis for CCDC40

(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

CCDC40 for disorders About GeneDecksing

OMIM gene information: 613799 OMIM disorders: --

UniProtKB/Swiss-Prot: CCD40_HUMAN, Q4G0X9

Defects in CCDC40 are the cause of primary ciliary dyskinesia type 15 (CILD15) [MIM:613808]. 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. Half of the patients exhibit randomization of left-right body asymmetry

and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with

situs inversus is referred to as Kartagener syndrome

6 diseases for CCDC40: About MalaCards

ciliary dyskinesia primary ciliary dyskinesia situs inversus kartagener syndrome

bronchiectasis carcinoma

1 disease from the University of Copenhagen DISEASES database for CCDC40:

Primary ciliary dyskinesia

Export disorders for CCDC40 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 CCDC40 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with CCDC40)

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

The coiled-coil domain containing protein CCDC40 is e ssential for motile cilia function and left-right axis formation. (PubMed id 21131974)^{1, 2, 3} Becker-Heck A....Burdine R.D. (2010)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)^{1, 2} Nagase T.... Ohara O. (2000)
Delineation of CCDC39/CCDC40 mutation spectrum and ass ociated phenotypes in primary ciliary dyskinesia. (PubMed id 22693285)¹ Blanchon S....Amselem S. (2012)
Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)¹ OlA!h J....OvA!di J. (2011)
MCM3AP, a novel HBV integration site in hepatocellula r carcinoma and its implication in hepatocarcinogenesis. (PubMed id 20714864)¹ Wang J....Yang Y. (2010)
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)

(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: 55036	HGNC: 26090	AceView: FLJ20753	Ensembl:ENSG00000141519	euGenes: HUgn55036
ECgene: CCDC40	H-InvDB: CCDC40

(According to HUGE)
About This Section

HUGE: KIAA1640

(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 CCDC40	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC40 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CCDC40 gene:
Search GeneIP for patents involving CCDC40

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


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for CCDC40
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC40		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC40
	Browse OriGene Protein Over-expression Lysates		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for CCDC40		OriGene 3'-UTR Clone for CCDC40
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC40		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC40
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for CCDC40		OriGene Custom Protein Services for CCDC40
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CCDC40
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCDC40
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC40
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC40
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC40
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC40

	GenScript Custom Purified and Recombinant Proteins Services for CCDC40		GenScript cDNA clones with any tag delivered in your preferred vector for CCDC40
	GenScript Custom Assay Services for CCDC40		GenScript Custom Superior Antibodies Services for CCDC40
	GenScript Custom overexpressing Cell Line Services for CCDC40		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in CCDC40 promoter
	Search Chromatin IP Primers for CCDC40
	RT² qPCR Primer Assay in human, mouse, rat CCDC40
	Search GNC Networks for CCDC40
	SABiosciences Custom PCR Arrays for CCDC40

Search Tocris compounds for CCDC40

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	CCDC40 antibodies
	CCDC40 proteins
	CCDC40 lysates

	Search for Antibodies for CCDC40 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for CCDC40
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

CCDC40 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for CCDC40

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC40

	Browse SwitchGear 3'UTR luciferase reporter plasmids for CCDC40
	Browse SwitchGear Promoter luciferase reporter plasmids for CCDC40

ThermoFisher Antibodies for CCDC40

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC40

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

View Random Gene

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 CCDC40 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

CCDC40 Gene

coiled-coil domain containing 40

Aliases
for CCDC40 gene

Summaries
for CCDC40 gene

Genomic Views
for CCDC40 gene

Proteins
for CCDC40 gene

Protein Domains /
Families
for CCDC40 gene

Function
for CCDC40 gene

Pathways & Interactions
for CCDC40 gene

Drugs & Compounds
for CCDC40 gene

Transcripts
for CCDC40 gene

Expression
for CCDC40 gene

Orthologs
for CCDC40 gene

Paralogs
for CCDC40 gene

Genomic Variants
for CCDC40 gene

Disorders / Diseases
for CCDC40 gene

Publications
for CCDC40 gene

External Searches for CCDC40 gene

Genome Databases showing CCDC40 gene

Other Databases showing CCDC40 gene

Specialized Databases showing CCDC40 gene

Intellectual Property
for CCDC40 gene

Products
for CCDC40 gene

View Random Gene

Advanced Search

Export list of displayed genes

CCDC40 Gene

coiled-coil domain containing 40

Aliasesfor CCDC40 gene

Summariesfor CCDC40 gene

Genomic Viewsfor CCDC40 gene

Proteinsfor CCDC40 gene

Protein Domains /Familiesfor CCDC40 gene

Functionfor CCDC40 gene

Pathways & Interactionsfor CCDC40 gene

Drugs & Compoundsfor CCDC40 gene

Transcriptsfor CCDC40 gene

Expression for CCDC40 gene

Orthologsfor CCDC40 gene

Paralogsfor CCDC40 gene

Genomic Variantsfor CCDC40 gene

Disorders / Diseasesfor CCDC40 gene

Publicationsfor CCDC40 gene

External Searches for CCDC40 gene

Genome Databases showing CCDC40 gene

Other Databases showing CCDC40 gene

Specialized Databases showing CCDC40 gene

Intellectual Propertyfor CCDC40 gene

Productsfor CCDC40 gene

View Random Gene

Aliases
for CCDC40 gene

Summaries
for CCDC40 gene

Genomic Views
for CCDC40 gene

Proteins
for CCDC40 gene

Protein Domains /
Families
for CCDC40 gene

Function
for CCDC40 gene

Pathways & Interactions
for CCDC40 gene

Drugs & Compounds
for CCDC40 gene

Transcripts
for CCDC40 gene

Expression
for CCDC40 gene

Orthologs
for CCDC40 gene

Paralogs
for CCDC40 gene

Genomic Variants
for CCDC40 gene

Disorders / Diseases
for CCDC40 gene

Publications
for CCDC40 gene

Intellectual Property
for CCDC40 gene

Products
for CCDC40 gene