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FLASH GENE

Symbol

SNX14

contributors: mct - updated : 04-12-2014

HGNC name	sorting nexin 14
HGNC id	14977

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCAR17 spinocerebellar ataxia, autosomal recessive 17
Location	6q14.3      Physical location : 86.215.216 - 86.303.629
Synonym symbol(s)	MGC13217, RGS-PX2, RP11-321N4.2

DNA

TYPE	functioning gene
STRUCTURE	88.54 kb     29 Exon(s)

10 Kb 5' upstream gene genomic sequence study

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_020468 26 splicing 3346 NP_065201 - 893 - 2014 25439728 SNX14-Ib NM_153816 29 splicing 3505 NP_722523 - 946 - 2014 25439728 SNX14-Ia NM_001297614 - - 3714 NP_001284543 - 937 - 2014 25439728

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 Cardiovascular heart         Homo sapiens Digestive liver         Homo sapiens Nervous brain       highly Homo sapiens   spinal cord anterior horn       Homo sapiens Reproductive female system placenta       Homo sapiens Skin/Tegument skin         Homo sapiens Urinary kidney         Homo sapiens Visual eye         Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a Phox (PX) and regulator of G protein signaling (RGS) domains
	one PXA domain
	a putative double transmembrane domain including a short cytoplasmic leader sequence

HOMOLOGY

Homologene

FAMILY

sorting nexin family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endosome

basic FUNCTION	involved in several stage of intracellular trafficking
	role for monoallelic SNX14 expression in maintaining normal neuronal excitability and synaptic transmission
	essential role for SNX14 in neural development and function, particularly in development and maturation of the cerebellum
	role for SNX14 in endosomal sorting and the regulation of protein degradation
	essential role for SNX14 with the breakdown and recycling of cellular components in human cerebellar development and maintenance

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCAR17

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS