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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CC2D2A Gene

protein-coding GIFtS: 49
GCID: GC04P015471

coiled-coil and C2 domain containing 2A

Explore 29 diseases affiliated with
CC2D2A 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 And C2 Domain Containing 2A¹ ²
MKS6¹ ² ⁵
KIAA1345¹ ³ ⁵
JBTS9¹ ²
Coiled-Coil And C2 Domain-Containing Protein 2A²

External Ids:	HGNC: 29253¹	Entrez Gene: 57545²	Ensembl: ENSG00000048342⁷	OMIM: 612013⁵	UniProtKB: Q9P2K1³

Export aliases for CC2D2A gene to outside databases

Previous GC identifers: GC04P015080 GC04P014821

(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 CC2D2A:

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia

formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative

splicing results in multiple transcript variants. (provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: C2D2A_HUMAN, Q9P2K1

Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and

acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required

for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)

Gene Wiki entry for CC2D2A

(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_000004.11 NC_018915.1 NT_006316.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CC2D2A gene promoter:
MIF-1 IRF-1 Evi-1 C/EBPalpha YY1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for CC2D2A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CC2D2A

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

Entrez Gene cytogenetic band: 4p15.32 Ensembl cytogenetic band: 4p15.32 HGNC cytogenetic band: 4p15.33

CC2D2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CC2D2A gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P015471: view genomic region (about GC identifiers)

Start:	15,471,489 bp from pter	End:	15,603,180 bp from pter
Size:	131,692 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: C2D2A_HUMAN, Q9P2K1 (See protein sequence)

Recommended Name: Coiled-coil and C2 domain-containing protein 2A

Size: 1620 amino acids; 186185 Da

Subunit: Part of the tectonic-like complex (also named B9 complex) (By similarity)

Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a

region between the basal body and the ciliary axoneme (By similarity)

Developmental stage: At Carnagie stage 13 (CS13, after 4 weeks of development) and CS14 CC2D2A is ubiquitously

expressed, with a distinct signal in the spinal cord and limb buds. At CS17 CC2D2A continue to be widely expressedin

particular throughout the central nervous system (CNS), lung, and digestive tract epithelia. At CS22 expression

continues to be intense within the CNS, where strong and specific expression is observed in the eye and in external

granular layer of cerebellum. CC2D2A expression is also observed in the costal perichondrium

Sequence caution: Sequence=AAI03711.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A

sequence; Sequence=BAA92583.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14710.1;

Type=Miscellaneous discrepancy; Note=Aberrant splicing;

Secondary accessions: A6ND97 B3FW08 D6RB72 E7EP21 E9PEV5 Q3SYP3 Q9H8A7

Alternative splicing: 4 isoforms: Q9P2K1-4 Q9P2K1-2 Q9P2K1-5 Q9P2K1-6 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CC2D2A: NX_Q9P2K1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9P2K1

CC2D2A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001073991.2 NP_001158192.1 NP_065836.2

ENSEMBL proteins:

ENSP00000426109 ENSP00000422875 ENSP00000427221 ENSP00000424368 ENSP00000421809

ENSP00000426846 ENSP00000374303 ENSP00000422931 ENSP00000403465 ENSP00000398391

ENSP00000401154

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	Uscn Proteins for CC2D2A

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005932	microtubule basal body	IEA	--
GO:0035869	ciliary transition zone	ISS	--
GO:0036038	TCTN-B9D complex	ISS	--

CC2D2A 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

CC2D2A for domains About GeneDecksing

1 InterPro domain/family:

IPR000008 C2_Ca-dep

Graphical View of Domain Structure for InterPro Entry Q9P2K1

ProtoNet protein and cluster: Q9P2K1

1 Blocks protein family: IPB000008 C2 domain

UniProtKB/Swiss-Prot: C2D2A_HUMAN, Q9P2K1

Similarity: Contains 1 C2 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: C2D2A_HUMAN, Q9P2K1

Function: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and

acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required

for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)

Phenotypes:
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cc2d2a):

cellular	craniofacial	embryogenesis	homeostasis/metabolism	mortality/aging
nervous system	vision/eye

CC2D2A for phenotypes About GeneDecksing

Animal Models:

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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 CC2D2A

STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

5/12 Interacting proteins for CC2D2A (ENSP00000398391⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CEP290	ENSP00000308021⁴	STRING: ENSP00000308021
TCTN2	ENSP00000304941⁴	STRING: ENSP00000304941
TMEM216	ENSP00000381950⁴	STRING: ENSP00000381950
TMEM67	ENSP00000389998⁴	STRING: ENSP00000389998
MKS1	ENSP00000376827⁴	STRING: ENSP00000376827

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007224	smoothened signaling pathway	ISS	--
GO:0042384	cilium assembly	ISS	--
GO:0060271	cilium morphogenesis	ISS	--

CC2D2A 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

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Search CenterWatch for drugs/clinical trials and news about CC2D2A / C2D2A

(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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About This Section

REFSEQ mRNAs for CC2D2A gene (3 alternative transcripts):

NM_001080522.2 NM_001164720.1 NM_020785.2

Unigene Cluster for CC2D2A:

Coiled-coil and C2 domain containing 2A

Hs.590928 [show with all ESTs]

Unigene Representative Sequence: NM_001080522

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

ENST00000511544 ENST00000512702 ENST00000513811 ENST00000507954 ENST00000515124

ENST00000514450 ENST00000503292(uc003gnz.1 uc003goa.1) ENST00000503658

ENST00000389652(uc003gnx.3) ENST00000510220 ENST00000506643 ENST00000512202

ENST00000514039 ENST00000513035 ENST00000424120 ENST00000413206(uc003gnv.2 uc010idv.2)

ENST00000438599(uc003gnr.4 uc003gnq.4 uc003gns.4)

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Additional cDNA sequence:

AB037766.1 AK023876.1 AK025543.1 AK096047.1 AK309178.1 BC053865.1 BC061921.1 BC070395.1

BC103710.1 BX647334.1 EU450799.1

21 DOTS entries:

DT.101983130 DT.99936685 DT.97781457 DT.40280445 DT.101983131 DT.121249107 DT.97836202 DT.210374

DT.100733497 DT.70103650 DT.121248808 DT.302806 DT.92037922 DT.101960139 DT.121248989 DT.40252209

DT.75181026 DT.95318619 DT.97807548 DT.91898644 DT.95358527

24/76 AceView cDNA sequences (see all 76):

BX397178 BQ070509 AL536815 AI202019 W94613 BQ050967 AI936341 CR602853

BC053865 BM976077 AA441862 BE893129 AI733918 AK023876 AA252859 CR605361

CR622306 N35522 AI972543 AB037766 AU141304 BQ185019 AI376394 CA418827

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

CC2D2A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAAAACTAC

About this image

CC2D2A 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 CC2D2A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CC2D2A

SOURCE GeneReport for Unigene cluster: Hs.590928

UniProtKB/Swiss-Prot: C2D2A_HUMAN, Q9P2K1

Tissue specificity: Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and

fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart

SABiosciences Expression via Pathway-Focused PCR Array including CC2D2A:

Primary Cilia in human mouse rat

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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 CC2D2A 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	CC2D2A¹	coiled-coil and C2 domain containing 2A	72.08(n) 71.86(a)		422830 XM_420777.3 XP_420777.3
lizard (Anolis carolinensis)	Reptilia	-- --	--	79(a) 75(a)	1 ↔ many 1 ↔ many	4(124100610-124104064) 4(124105657-124151368)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.4091²	Transcribed sequence with weak similarity to protein more	76.74(n)		BX774913.1
zebrafish (Danio rerio)	Actinopterygii	wufc03c12²	Transcribed sequence with weak similarity to protein more	72.21(n)		AL911499.1
fruit fly (Drosophila melanogaster)	Insecta	CG43370¹	CG43370	40.57(n) 29.6(a)		36982 NM_137385.2 NP_611229.2

ENSEMBL Gene Tree for CC2D2A (if available)
TreeFam Gene Tree for CC2D2A (if available)

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

Paralogs for CC2D2A gene

C10orf131² CC2D2B²

1 SIMAP similar gene for CC2D2A using alignment to 4 protein entries: C2D2A_HUMAN (see all proteins):

CC2D2B

CC2D2A for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for CC2D2A
PGOHUM00000251275

(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 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs118204052^1,2	C	pathogenic	14951528(+)	`CTCTGC/TGTCAC`	2	R C	mis¹		0	--	--	--	--
rs74998584^1,2	F	--	14820441(+)	`CAAGGG/AGCTGG`	3	--	us2k¹		1		WA	118
rs73799879^1,2	C	--	14821277(+)	`GCTACT/CTTGCC`	3	--	us2k¹		2		WA	120
rs28644213^1,2	C	--	14821346(+)	`TTTTCA/GGGAAT`	3	--	us2k¹		2		NA WA	120
rs28463577^1,2	F	--	14821700(+)	`TCCACT/CACTGG`	3	--	us2k¹		1		WA	118
rs6819598^1,2	C	--	14821986(+)	`CAACAG/CTGATT`	3	--	int¹		3		NA WA	122
rs77346807^1,2	F	--	14822198(+)	`CAAGTC/TCTGAG`	3	--	int¹		1		WA	118
rs73799880^1,2	C	--	14823104(+)	`AGGGTG/ATGAGG`	3	--	int¹		1		WA	2
rs113664647^1,2	C	--	14823261(+)	`TGGGTG/-GGCTT`	3	--	int¹		1		CSA	2
rs28572467^1,2	F	--	14823420(+)	`ATTTTC/ACTACA`	3	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for CC2D2A (15471489 - 15603180 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CC2D2A
2 CNVs: 3482 91950
Human Gene Mutation Database (HGMD): CC2D2A

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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

CC2D2A for disorders           About GeneDecksing

OMIM gene information: 612013
OMIM disorders: 612285  612284  216360
UniProtKB/Swiss-Prot: C2D2A_HUMAN, Q9P2K1

Defects in CC2D2A are the cause of Meckel syndrome type 6 (MKS6) [MIM:612284]. MKS is an autosomal recessive

disorder characterized by a combination of renal cysts and variably associated features including developmental

anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly

Defects in CC2D2A are the cause of Joubert syndrome type 9 (JBTS9) [MIM:612285]. JBTS is an autosomal

recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities

and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened

and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of

a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and

renal disease

Defects in CC2D2A are a cause of COACH syndrome (COACHS) [MIM:216360]. It is a disorder characterized by

mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign,

a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as

coloboma and renal cysts, may be variable

20/29 diseases for CC2D2A (see all 29): About MalaCards

meckel syndrome, type 6 meckel syndrome joubert syndrome oculomotor apraxia

senior-loken syndrome asphyxiating thoracic dystrophy encephalocele encephaloceles

joubert syndrome and related disorders apraxia coach syndrome cerebellar hypoplasia

fundus dystrophy was-related disorders intellectual disability congenital hepatic fibrosis

cerebellar ataxia conduct disorder nephronophthisis retinitis pigmentosa

5 diseases from the University of Copenhagen DISEASES database for CC2D2A:

Cystic kidney Polydactyly Nephronophthisis Fundus dystrophy

Asphyxiating thoracic dystrophy

GeneTests: CC2D2A

Joubert Syndrome

Human Genome Epidemiology (HuGE) Navigator: CC2D2A (1 document)

Export disorders for CC2D2A 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)
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PubMed articles for CC2D2A gene, integrated from 9 sources (see all 21):
(articles sorted by number of sources associating them with CC2D2A)

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Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. (PubMed id 18513680)^{1, 2, 3} Tallila J.... Kestilae M. (2008)
Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)^{1, 2, 3} Nagase T.... Ohara O. (2000)
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) caus e COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). (PubMed id 19574260)^{1, 2} Doherty D....Glass I.A. (2010)
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype- phenotype correlation. (PubMed id 19777577)^{1, 2} Mougou-Zerelli S.... Attie-Bitach T. (2009)
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. (PubMed id 18387594)^{1, 2} Noor A.... Ayub M. (2008)
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. (PubMed id 19068953)^{1, 2} Noor A....Ayub M. (2008)
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. (PubMed id 18950740)^{1, 2} Gorden N.T....Doherty D. (2008)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. (PubMed id 22246503)² Lee J.E....Gleeson J.G. (2012)
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. (PubMed id 22425360)² Srour M....Michaud J.L. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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)
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Entrez Gene: 57545	HGNC: 29253	AceView: KIAA1345	Ensembl:ENSG00000048342	euGenes: HUgn57545
ECgene: CC2D2A	H-InvDB: CC2D2A

(According to HUGE)
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HUGE: KIAA1345

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CC2D2A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CC2D2A gene
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CC2D2A Gene

coiled-coil and C2 domain containing 2A

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coiled-coil and C2 domain containing 2A

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