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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CC2D1A Gene

protein-coding GIFtS: 55
GCID: GC19P014016

coiled-coil and C2 domain containing 1A

Explore 6 diseases affiliated with
CC2D1A 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 1A¹ ²		Freud-1/Aki1²
MRT3¹ ² ⁵		Coiled-Coil And C2 Domain-Containing Protein 1A²
Five Prime Repressor Element Under Dual Repression-Binding Protein 1² ³		Five Repressor Element Under Dual Repression-Binding Protein 1²
Putative NF-Kappa-B-Activating Protein 023N² ³		Mental Retardation, Nonsyndromic, Autosomal Recessive, 3²
Akt Kinase-Interacting Protein 1² ³		Putative NFkB Activating Protein²
FRE Under Dual Repression-Binding Protein 1² ³		AKI1³
FLJ20241¹		Freud-1³
FREUD-1²

External Ids:	HGNC: 30237¹	Entrez Gene: 54862²	Ensembl: ENSG00000132024⁷	OMIM: 610055⁵	UniProtKB: Q6P1N0³

Export aliases for CC2D1A gene to outside databases

Previous GC identifers: GC19P013865 GC19P013588

(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 CC2D1A:

This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates

expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and

transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in

nonsyndromic mental retardation-3.(provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: C2D1A_HUMAN, Q6P1N0

Function: Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene

transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May

play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent

repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of

synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold

protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole

localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis

Gene Wiki entry for CC2D1A

(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_000019.9 NC_018930.1 NT_011295.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CC2D1A gene promoter:
Elk-1 Olf-1 NF-AT AREB6 NF-AT4 PPAR-gamma1 NF-AT2 NF-AT3 PPAR-gamma2 NF-AT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CC2D1A promoter sequence

Search SABiosciences Chromatin IP Primers for CC2D1A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CC2D1A

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

Entrez Gene cytogenetic band: 19p13.12 Ensembl cytogenetic band: 19p13.12 HGNC cytogenetic band: 19p13.12

CC2D1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CC2D1A gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P014016: view genomic region (about GC identifiers)

Start:	14,016,956 bp from pter	End:	14,041,693 bp from pter
Size:	24,738 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: C2D1A_HUMAN, Q6P1N0 (See protein sequence)

Recommended Name: Coiled-coil and C2 domain-containing protein 1A

Size: 951 amino acids; 104062 Da

Subcellular location: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, centrosome

Sequence caution: Sequence=BAA91029.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing; Sequence=BAB15464.1;

Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q7Z435 Q86XV0 Q8NF89 Q9H603 Q9NXI1

Alternative splicing: 2 isoforms: Q6P1N0-1 Q6P1N0-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CC2D1A: NX_Q6P1N0

Post-translational modifications:

Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6P1N0

CC2D1A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060191.3

ENSEMBL proteins:

ENSP00000313601 ENSP00000467526 ENSP00000465376 ENSP00000466586

Human Recombinant Protein Products for CC2D1A:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CC2D1A

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005730	nucleolus	--	--
GO:0005737	cytoplasm	IEA	--
GO:0005815	microtubule organizing center	IEA	--
GO:0005886	plasma membrane	--	--

CC2D1A 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

CC2D1A for domains About GeneDecksing

3 InterPro domains/families:

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR000008 C2_Ca-dep

IPR006608 DM14

Graphical View of Domain Structure for InterPro Entry Q6P1N0

ProtoNet protein and cluster: Q6P1N0

1 Blocks protein family: IPB000008 C2 domain

UniProtKB/Swiss-Prot: C2D1A_HUMAN, Q6P1N0

Domain: The C2 domain is required for the repression (By similarity)

Similarity: Belongs to the CC2D1 family

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: C2D1A_HUMAN, Q6P1N0

Function: Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene

transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May

play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent

repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of

synapses (By similarity). Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold

protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole

localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	--
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	IEA	--
GO:0003677	DNA binding	--	--
GO:0004871	signal transducer activity	IMP	12761501

CC2D1A for ontologies About GeneDecksing

Phenotypes:
8 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Cc2d1a):

behavior/neurological	cardiovascular system	cellular	growth/size	immune system
mortality/aging	nervous system	respiratory system

CC2D1A for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for CC2D1A: Cc2d1a^tm1Bisu Cc2d1a^tm1Zjc

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CC2D1A

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		hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-219-5p hsa-miR-632 hsa-miR-508-3p hsa-miR-9

		SwitchGear 3'UTR luciferase reporter plasmid: CC2D1A 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CC2D1A

(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

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

1.00

1 BioSystems Pathway for CC2D1A

SIDS Susceptibility Pathways

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CC2D1A

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/102 Interacting proteins for CC2D1A (Q6P1N0^{2, 3} ENSP00000313601⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 102)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CDC37	Q16543²^,³, ENSP00000222005⁴	MINT-8250811 I2D: score=2 STRING: ENSP00000222005
CHMP4A	Q9BY43³, ENSP00000324205⁴	I2D: score=1 STRING: ENSP00000324205
NCOA2	Q15596³, ENSP00000399968⁴	I2D: score=1 STRING: ENSP00000399968
CHMP4C	Q96CF2³, ENSP00000297265⁴	I2D: score=1 STRING: ENSP00000297265
RBL1	P28749³	I2D: score=1

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	--	--
GO:0006351	transcription, DNA-dependent	--	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0007165	signal transduction	IMP	12761501
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB cascade	IMP	12761501

CC2D1A 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 CC2D1A

1 HMDB Compound for CC2D1A About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

Search CenterWatch for drugs/clinical trials and news about CC2D1A / C2D1A

(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, Sirion Biotech, 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 CC2D1A gene:

NM_017721.4

Unigene Cluster for CC2D1A:

Coiled-coil and C2 domain containing 1A

Hs.269592 [show with all ESTs]

Unigene Representative Sequence: NM_017721

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

ENST00000318003(uc002mxn.2 uc002mxo.2 uc002mxp.2 uc010dzh.2 uc002mxq.1)

ENST00000585896 ENST00000589606 ENST00000586955 ENST00000589138 ENST00000589679

ENST00000588932 ENST00000587508 ENST00000589224

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		hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-219-5p hsa-miR-632 hsa-miR-508-3p hsa-miR-9

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Additional cDNA sequence:

AB097002.1 AK000248.1 AK026371.1 AK315068.1 BC006556.2 BC048345.1 BC064981.1 BC113968.1

11 DOTS entries:

DT.111857 DT.101982169 DT.40226985 DT.406237 DT.100795306 DT.436995 DT.99951790 DT.100642398

DT.103023 DT.121500068 DT.121500065

24/151 AceView cDNA sequences (see all 151):

BM782763 CB153524 BQ051621 CA431486 AK000482 AJ712854 BM786546 CB153751

BC006556 BC064981 F31465 BX352893 CB158192 BM665524 BQ962352 BU168947

CR608350 BU860052 AI831611 BU557372 AK026371 BC048345 AU134397 AA809951

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CC2D1A (see all 9) About this scheme

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

ExUns:	17b	^	18	^	19	^	20	^	21	^	22a	·	22b	^	23a	·	23b	^	24	^	25	^	26	^	27	^	28	^	29
SP1:													-		-
SP2:													-		-
SP3:													-		-
SP4:
SP5:

ECgene alternative splicing isoforms for CC2D1A

(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

CC2D1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAATAAAATA

About this image
See CC2D1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CC2D1A

SOURCE GeneReport for Unigene cluster: Hs.269592
SABiosciences Custom PCR Arrays for CC2D1A

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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 CC2D1A gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cc2d1a^{1 , 5}	coiled-coil and C2 domain containing 1A^{1, 5}	82.04(n)¹ 83.14(a)¹		8 (40.32 cM)⁵ 212139¹ NM_145970.1¹ NP_666082.2¹ 84132828⁵
lizard (Anolis carolinensis)	Reptilia	-- --	--	63(a) 59(a)	possible ortholog possible ortholog	AAWZ02041590(3182-4500) 2(77017445-77073488)
tropical clawed frog (Xenopus tropicalis)	Amphibia	CF216559.1²	--	74.5(n)		CF216559.1
zebrafish (Danio rerio)	Actinopterygii	CABZ01087400.1⁶	--	47(a)	1 ↔ 1	1(55755229-55778413)
fruit fly (Drosophila melanogaster)	Insecta	l(2)gd1⁶	lethal (2) giant discs 1	31(a)	1 → many	2L(11106912-11110851)
worm (Caenorhabditis elegans)	Secernentea	Y37H9A.3⁶	Coiled-coil and C2 domain-containing protein 1-lik...	27(a)	1 → many	I(13778884-13792153)

ENSEMBL Gene Tree for CC2D1A (if available)
TreeFam Gene Tree for CC2D1A (if available)

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

Paralogs for CC2D1A gene

CC2D1B²

1 SIMAP similar gene for CC2D1A using alignment to 4 protein entries: C2D1A_HUMAN (see all proteins):

CC2D1B

CC2D1A 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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12327707^1,2		--	13586489(+)	`taggaC/Ttacag`	1	--	us2k¹		0	--	--	--	--
rs11883137^1,2	H	--	13587336(+)	`ACAGCC/TTGTGT`	1	--	us2k¹		0	--	--	--	--
rs75760708^1,2	F	--	13587727(+)	`AAGATC/TGTGCC`	1	--	us2k¹		1		NA	120
rs73922798^1,2	C	--	13587987(+)	`GGAGGC/TGAAAG`	1	--	us2k¹		1		WA	2
rs76321422^1,2	C,F	--	13588932(+)	`TACAGA/GTGAGG`	1	--	int¹		1		WA	118
rs10425341^1,2	C,H	--	13588997(+)	`CTTGGC/TCAGGG`	1	--	int¹		6		NS EA NA	386
rs75668881^1,2	C	--	13589477(+)	`GATTGC/TGCTAC`	1	--	int¹		2		CSA WA	120
rs9989648^1,2	C	--	13590208(+)	`cttccC/Tgggtt`	1	--	int¹		0	--	--	--	--
rs4926318^1,2	C,F,H	--	13590571(+)	`GGCTTC/ATAATT`	1	--	int¹		9		NS EA NA	1056
rs74453022^1,2		--	13591027(+)	`TCCCCG/AGCTCC`	1	--	int¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for CC2D1A (14016956 - 14041693 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CC2D1A
1 CNV: 5088
Human Gene Mutation Database (HGMD): CC2D1A

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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

CC2D1A for disorders           About GeneDecksing

OMIM gene information: 610055
OMIM disorders: 608443
UniProtKB/Swiss-Prot: C2D1A_HUMAN, Q6P1N0

Defects in CC2D1A are the cause of mental retardation autosomal recessive type 3 (MRT3) [MIM:608443]. Patients

display severe mental retardation and psychomotor development delay in early childhood. Non-syndromic mental

retardation patients do not manifest other clinical signs

6 diseases for CC2D1A: About MalaCards

mental retardation, nonsyndromic mental retardation, autosomal recessive 3 age related macular degeneration macular degeneration

intellectual disability neuronitis

1 disease from the University of Copenhagen DISEASES database for CC2D1A:

Intellectual disability

Human Genome Epidemiology (HuGE) Navigator: CC2D1A (1 document)

Export disorders for CC2D1A 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 CC2D1A gene, integrated from 9 sources (see all 40):
(articles sorted by number of sources associating them with CC2D1A)

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world of online information

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. (PubMed id 16033914)^{1, 2, 3} Basel-Vanagaite L....Shohat M. (2006)
Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways. (PubMed id 12761501)^{1, 2, 3} Matsuda A....Sugano S. (2003)
Mitotic phosphorylation of Aki1 at Ser208 by cyclin B 1-Cdk1 complex. (PubMed id 20171170)^{1, 2} Nakamura A....Fujita N. (2010)
A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)^{1, 2} Rush J.... Comb M.J. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Differential repression by freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor gene. (PubMed id 17535813)^{1, 9} Rogaeva A....Albert P.R. (2007)
The Freud-1/CC2D1A family: transcriptional regulators implicated in mental retardation. (PubMed id 17394259)^{1, 9} Rogaeva A....Albert P.R. (2007)
Cell type-dependent recruitment of trichostatin A-sensitive repression of the human 5-HT1A receptor gene. (PubMed id 14756806)^{1, 9} Lemonde S....Albert P.R. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 54862	HGNC: 30237	AceView: FLJ20241	Ensembl:ENSG00000132024	euGenes: HUgn54862
ECgene: CC2D1A	H-InvDB: CC2D1A

(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 CC2D1A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CC2D1A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CC2D1A gene:
Search GeneIP for patents involving CC2D1A

GeneCards and IP:
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coiled-coil and C2 domain containing 1A

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coiled-coil and C2 domain containing 1A

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