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FLASH GENE

Symbol

ISLR2

contributors: mct - updated : 15-06-2021

HGNC name	immunoglobulin superfamily containing leucine-rich repeat 2
HGNC id	29286

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HAAD hydrocephalus, arthrogryposis and abdominal distension
Location	15q24.1      Physical location : 74.421.714 - 74.429.141
Synonym name	KIAA1465 protein
	ISLR2 protein
Synonym symbol(s)	KIAA1465, LINX

DNA

TYPE	functioning gene
STRUCTURE	41.51 kb     3 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_020851 3 - 4202 NP_065902 - 745 - 2019 30483960 NM_001130137 4 - 4569 NP_001123609 - 745 - 2019 30483960 NM_001130136 4 - 4833 NP_001123608 - 745 - 2019 30483960 NM_001130138 4 - 4261 NP_001123610 - 745 - 2019 30483960

EXPRESSION

Type	restricted

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 Cardiovascular heart       lowly Nervous brain basal nuclei caudate nucleus   lowly   brain diencephalon amygdala   lowly   brain limbic system hippocampus   lowly   brain hindbrain cerebellum   lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	immunoglobulin domain
	leucine-rich repeat

HOMOLOGY

Homologene

FAMILY

leucine-rich repeat and immunoglobulin family of membrane proteins

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involvement of ISLR2 in axon guidance and cell-cell communication
	potential role role for iSLR2 in the regulation of complex forebrain connectivity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HAAD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Linx-deficient mice develop severe hydrocephalus and die perinatally