Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

TMEM5

contributors: mct - updated : 16-01-2013

HGNC name	transmembrane protein 5
HGNC id	13530

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	WLKWS8 Walker-Warburg syndrome 8
Location	12q14.2      Physical location : 64.173.636 - 64.202.887
Synonym name	putative type II membrane protein
Synonym symbol(s)	HP10481

DNA

TYPE	functioning gene
STRUCTURE	29.25 kb     6 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_014254 6 - 1451 NP_055069 - 443 - 1999 10072769

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 liver         Endocrine pancreas         Nervous brain         Respiratory lung         Urinary kidney         Visual eye lens         eye uvea choroid

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a glycosyltransferase domain
	a signal anchor for a type II membrane protein encoded by AAs 10–30
	a cytoplasmic domain encoded by AAs 1–9
	a domain that has some similarities to exostosin (AAs 218–353), which is a domain found in EXT1
	an extracellular domain encoded by AAs 31–443

HOMOLOGY

Homologene

FAMILY

TMEM5 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	type 2 transmembrane protein

basic FUNCTION

transmembrane protein with a potential glycosyltransferase function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

WLKWS8

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS