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FLASH GENE

Symbol

MAB21L2

contributors: mct - updated : 19-06-2014

HGNC name	mab-21-like 2 (C. elegans)
HGNC id	6758

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CLBMS3 colobomatous microphthalmia syndromic3
Location	4q31.3      Physical location : 151.503.076 - 151.505.843
Synonym symbol(s)	FLJ31103

DNA

TYPE	functioning gene
STRUCTURE	2.77 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006439 1 - 2785 NP_006430 - 359 - Mariani (1999)

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 Digestive mouth         Homo sapiens Fetal Skeleton           Homo sapiens Fetal Visual eye         Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

Text	strong expression in the developing eye, pharyngeal arches, and limb bud

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to C.elegans mab-21-like 2

Homologene

FAMILY

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION

may be involved in neural development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA	bound single-stranded RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CLBMS3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

homozygous targeted inactivation of Mab21l2 in mouse embryos causes defects of the ventral body wall, severe eye malformations, and death in midgestation, whereas heterozygous null animals are apparently normal (PMID;