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FLASH GENE

Symbol

CETN2

contributors: mct/pgu - updated : 19-08-2015

HGNC name	centrin, EF-hand protein, 2
HGNC id	1867

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xq28      Physical location : 151.995.872 - 151.999.301
Synonym name	caltractin (20kD calcium-binding protein)
	caltractin isoform 1
Synonym symbol(s)	CALT, CEN2, CAT1

DNA

TYPE	functioning gene
STRUCTURE	3.43 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - GABRA3 - DXS1104 - CETN2 - DXS52 - qter
Authors	PMID: 8597638

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004344 5 - 1087 NP_004335 - 172 - 2008 18172010

EXPRESSION

Type	ubiquitous

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 pharynx       highly Hearing/Equilibrium ear inner cochlea   highly Respiratory lung       highly Urinary bladder       highly   kidney       highly Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

cell cycle

cell cycle, interphase

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N-terminal domain having a closed structure, binds calcium with a very low affinity, and plays a role in the protein self-assembly

mono polymer

monomer

HOMOLOGY

interspecies	homolog to yeast cdc31
	homolog to murine Cetn2

Homologene

FAMILY

EF-hand superfamily of calcium-binding proteins

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus,chromatin/chromosome,centromere
	intracellular,nucleus,chromatin/chromosome,kinetochore
	intracellular,nuclear envelope,pore
text	distal lumen of centrioles, centrosome of interphase and mitotic cells
	localizes to the vertebrate nuclear pore
	associated with centrosome-related structures

basic FUNCTION	involved in structure and function of microtubule organizing center, duplication and segregation of centrosome
	stimulating nucleotide excision repair by interacting with xeroderma pigmentosum group C protein
	plays a functional role in multiple nuclear export pathways
	has the ability to bind to any of the approximately 25 repeats of human SFI1 (hSfi1) with more or less affinity
	can organize a subset of centriolar proteins independently of cartwheels
	its phosphorylation potentially stimulates the canonical centriole assembly pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	core component of the centrosome of higher eukaryotes
	forms a strong heterotrimeric complex with RAD23B and XPC

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein	XPC (stabilizes XPC in cooperation with HR23B), and localization of centrin-2 within the nucleus depends on its ability to bind to the XPC protein
	interacting with SFI1 (role of centrin-SFI1 interactions in the dynamic structure of centrosome-associated contractile fibers)
	associate biochemically with nucleoporins
	assemble into protein complexes with the visual heterotrimeric G-protein transducin, interaction mediated by binding to the betagamma-dimer of the heterotrimeric G-protein
	substrate of SUMOylation, and it is preferentially modified by SUMO2/3
	through activation of a centrosomal pool of CDK2, CDC25B stabilises the local pool of Monopolar spindle 1 (Mps1) which in turn regulates the level of CETN2 at the centrosome
	CETN2 regulates primary ciliogenesis through controlling CCP110 levels

cell & other

REGULATION

Other

regulated by TTK (TTK-dependent phosphorylation of CETN2 stimulates the canonical centriole assembly pathway)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   causes MPS1-dependent centriole overproduction that requires each of the three TTK phosphorylation sites within CETN2 and is greatly exacerbated by mimicking phosphorylation at any of these sites

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS