Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

CC2D1A

contributors: mct/npt - updated : 17-09-2014

HGNC name	coiled-coil and C2 domain containing 1A
HGNC id	30237

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRAR3 mental retardation, non-syndromic, 3
Location	19p13.13      Physical location : 14.016.955 - 14.041.693
Synonym name	putative NFkB activating protein
	FRE under dual repression-binding protein 1
	five repressor element under dual repression-binding protein 1
	Akt kinase-interacting protein 1
	TBK1-associated protein in endolysosomes
Synonym symbol(s)	FREUD-1, FLJ20241, FLJ41160, MRT3, FREUD1/AKI1, TAPE

DNA

TYPE	functioning gene
STRUCTURE	24.74 kb     29 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017721 29 - 3644 NP_060191 104 951 more abundant in human cells, especially in the nuclear fraction Basel-Vanagaite, Nakamura (2008) also called Freud-1l major isoform that regulates the HTR1A gene (Rogaeva 2007) variant 2 - - - isoform 2 - 388 - Basel-Vanagaite, Rogaeva (2007) also called Freud-1s lack exons 14 and 16

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly Lymphoid/Immune thymus       highly Reproductive male system prostate     highly Skin/Tegument skin       highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-Terminal containing four DM14 domains
	a VWFC domain
	a predicted helix-loop-helix DNA binding domain
	C-terminal containing C2 domain, a protein kinase C conserved region 2 (C2)/calcium-dependent lipid-binding calcium/phospholipid binding domain required for the repression

HOMOLOGY

interspecies	ortholog to murine Cc2d1a
	ortholog to Drosophila Lgd

Homologene

FAMILY

fibrillar collagen family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus,nucleolus
text	nuclear localization enriched upon inhibition of chromosome region maintenance 1/exportin 1-dependent nuclear export, indicating a dynamic regulation of its nuclear localization (Rogaeva 2007)
	localizes to centrosomes and regulates centriole cohesion
	translocates to the plasma membrane in response to cAMP signaling, facilitated by the binding of membrane phosphatidic acid (PA) with its C2 domain thus allowing maximal activation

basic FUNCTION	putative signal transducer, involved in positive regulation of I-kappaB kinase/NF-kappaB cascade
	playing an important role in cognitive development
	induced formation of a PDK1/Akt complex and regulated Akt activation in a concentration-dependent biphasic manner (Nakamura 2008)
	novel receptor-selective scaffold protein for the PDK1/Akt pathway and present a new activation mechanism of Akt (Nakamura 2008)
	centrosome-associated CC2D1A and cohesin play pivotal roles in preventing premature cleavage in centriole cohesion
	activates NF-kappaB through the canonical IKK pathway
	likely performs essential function in controlling functional maturation of synapses
	positive regulator of the cAMP pathway in neurons
	important for neuronal differentiation and brain development
	might act as a negative regulator of CHMP4B function
	is involved in the retinoic acid-inducible gene I (RIG-I)-like receptors (RLRs) pathways
	plays a key role in antiviral responses during RNA virus infection
	is the first innate immune regulator implicated in both TLR and RLR signaling at a very early step
	regulates multiple intracellular signaling pathways
	critical role of CC2D1A in homeostatic control of intracellular signaling

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

important regulator of the cAMP/PRKACa signaling pathway, which may be the underlying cause for impaired mental function in nonsyndromic mental retardation patients with CC2D1A mutation

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	regulates the protein kinase A (PRKACA) activity
	is a novel regulator of ESCRT-III CHMP4B function
	TBK1-interacting protein that regulates the TLR3 and TLR4 pathways
	is a novel regulator of PDE4D (interacts directly with PDE4D regulating its activity and thereby fine-tuning cAMP-dependent downstream signaling)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRAR3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         absence of CC2D1A in neurons may be causing a developmental problem in the brain; occuring late in gestation, it would likely lead to the gross neural defects and abnormal brain development, likely leading to deficits in mental function

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed mental retardation other   CC2D1A and/or PDE4D may be promising targets for therapeutic interventions in many disorders with impaired PDE4D function

ANIMAL & CELL MODELS