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FLASH GENE

Symbol

FAT2

contributors: mct - updated : 11-04-2022

HGNC name	FAT tumor suppressor homolog 2 (Drosophila)
HGNC id	3596

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCA45 spinocerebellar ataxia 45
Location	5q33.1      Physical location : 150.883.653 - 150.948.505
Synonym name	multiple epidermal growth factor-like motif 1
	protocadherin FAT2
	cadherin family member 8
Synonym symbol(s)	MEGF1, CDHF8, HFAT2, KIAA0811, CDHR9, SCA45

DNA

TYPE	functioning gene
STRUCTURE	90.73 kb     24 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001447 24 - 14710 NP_001438 479.2 4349 - 2020 33108146

EXPRESSION

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 mouth       highly   stomach       highly Homo sapiens Endocrine neuroendocrine pituitary     moderately   parathyroid       predominantly Nervous brain         Reproductive female system ovary     moderately Respiratory respiratory tract larynx     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium (mucosa)   highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Digestive gastric Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 18 aa signal peptide
	thirty two cadherin motifs
	a laminin G-like domain
	two EGF-like motifs

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to rattus Fat2 (81.8 pc)
	homolog to murine Fat2 (82 pc)

Homologene

FAMILY

cadherin superfamily

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	plasma membrane,junction,adherens
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	single-pass type I membrane protein
	localized at immature adherens junctions

basic FUNCTION	controlling cell proliferation
	playing an important role in cerebellum development
	acts through the WAVE regulatory complex to drive collective cell migration during tissue rotation
	may function as a key molecule that governs not only planar cell polarity (PCP), but also NF2-HIPPO signaling in arachnoid cells
	FAT2 and the receptor tyrosine phosphatase PTPRF function in a planar signaling system that coordinates leading and trailing edge dynamics between neighboring cells

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

development

text	cerebellum development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCA45

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   significantly associated with lymph node and distant metastases, and poor prognosis

Susceptibility

Variant & Polymorphism

Candidate gene	FAT2 and DCHS2 are candidates underlying pituitary gland developmental defects such as ectopic pituitary gland and/or pituitary stalk interruption
Marker
Therapy target

ANIMAL & CELL MODELS