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FLASH GENE

Symbol

TMC8

contributors: npt/ - updated : 19-01-2006

HGNC name	transmembrane channel-like 8
HGNC id	20474

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EV2 epidermodysplasia verruciformis
Location	17q25.3      Physical location : 76.126.858 - 76.139.049
Synonym name	epidermodysplasia verruciformis 2 gene
Synonym symbol(s)	EVIN2, EVER2, MGC40121, MGC102701, FLJ40668, FLJ43684

DNA

TYPE	functioning gene
SPECIAL FEATURE	opposite orientation
text	with TMC6
STRUCTURE	12.19 kb     16 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_152468 16 splicing 4419 NP_689681 - 726 - Ramoz (2002) variant 2 - - 2300 isoform 2 - 503 - Ramoz (2002)

EXPRESSION

Type

constitutive of

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 Lymphoid/Immune lymph node           thymus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	eight transmembrane domains
	three leucine zipper motifs

HOMOLOGY

interspecies

ortholog to murine Ever2

intraspecies

homolog to TMC6

Homologene

FAMILY

TMC family

CATEGORY

receptor membrane , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth

basic FUNCTION

unknown

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EV2

Susceptibility

susceptibility to infection with certain papillomaviruses and high risk of skin carcinoma

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS