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FLASH GENE

Symbol

GAS2L2

contributors: mct - updated : 13-03-2019

HGNC name	growth arrest-specific 2 like 2
HGNC id	24846

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ICS43 immotile cilia syndrome 43
Location	17q12      Physical location : 34.071.536 - 34.079.897
Synonym name	GAS2-related protein
Synonym symbol(s)	GAR17

DNA

TYPE	functioning gene
STRUCTURE	8.36 kb     6 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 G2L2 alpha - - - - - - 2003 12584248 predominantly localize to the actin cytoskeleton G2L2beta - - - - - - 2003 12584248 localize and bind to both F-actin and MTs appear to be able to crosslink microtubules and microfilaments in transfected cells NM_139285 6 - 3025 NP_644814 97 880 - 2003 12584248

EXPRESSION

Rna function	GAR17 mRNA expression is limited to skeletal muscle
Type

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 intestine large intestine colon   moderately Homo sapiens   stomach       moderately Homo sapiens Nervous brain       highly Homo sapiens Reproductive female system oviduct     highly Homo sapiens   male system testis     highly Homo sapiens Respiratory lung       highly Homo sapiens Urinary kidney       highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Respiratory ciliari cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a calponin homology (CH) domain (a putative actin binding site)
	a GAS2-related (GAR) domain (a putative MT binding domain),
	a larger unstructured C terminus that contains the conserved microtubule-tip localization sequences Ser/Thr-Xaa-Ile/Leu-Pro (or SxIP motifs) necessary for interaction with microtubule plus-end-binding (EB) proteins

HOMOLOGY

Homologene

FAMILY

GAS2 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,cytoplasm,cytoskeleton,microfilament
text	abundant at the apical surface of ciliated cells, where it localizes with basal bodies, basal feet, rootlets, and actin filaments
	in normal airway ciliated cells, GAS2L2 localizes throughout the cytoplasm but is abundant near basal bodies

basic FUNCTION	involved in Cell cycle arrest
	microtubule-actin cross-linking protein
	GAS2L1, GAS2L2 and GAS2L3, are differentially involved in mediating the crosstalk between F-actin and microtubules
	is expressed in ciliated cells at the node and might play a role in situs determination
	plays a critical role in the airways by inter-connecting cytoskeletal elements, basal bodies, and basal feet
	helps to maintain the correct orientation of basal bodies in ciliated cells

CELLULAR PROCESS	cell cycle

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

GAS2L2 interacts closely with proteins present at the basal body

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ICS43

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

in mice, the absence of Gas2l2 caused neonatal death