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FLASH GENE

Symbol

TMX2

contributors: mct/npt - updated : 11-12-2019

HGNC name	thioredoxin-related transmembrane protein 2
HGNC id	30739

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PMGMS polymicrogyria, microcephaly and seizures
Location	11q12.1      Physical location : 57.480.041 - 57.508.444
Synonym name	thioredoxin domain containing 14
	protein disulfide isomerase family A, member 12
	proliferation-inducing gene 26 protein
	growth-inhibiting gene 11
Synonym symbol(s)	CGI-31, PIG26, MGC111151, DKFZp781O2021, TXNDC14, PDIA12

DNA

TYPE	functioning gene
STRUCTURE	28.45 kb     8 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_015959 8 - 1686 NP_057043 - 296 - 2012 22045338 most biologically relevant as an ER resident protein NM_001144012 7 - 1578 NP_001137484 - 258 - 2012 22045338 NM_001347895 8 - 1842 NP_001334824 - 202 - 2012 22045338 NM_001347893 8 - 1813 NP_001334822 - 209 - 2012 22045338 NM_001347894 8 - 1792 NP_001334823 - 202 - 2012 22045338 NM_001347890 8 - 1736 NP_001334819 - 303 - 2012 22045338 NM_001347898 8 - 1704 NP_001334827 - 231 - 2012 22045338 NM_001347891 8 - 1631 NM_001347891 - 268 - 2012 22045338 NM_001347892 8 - 1692 NP_001334821 - 227 - 2012 22045338 NM_001347896 8 - 1769 NP_001334825 - 202 - 2012 22045338

EXPRESSION

Type

widely

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 intestine small intestine         mouth tongue       Lymphoid/Immune thymus         Reproductive male system prostate

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal signal peptide
	a potential transmembrane domain
	one Trx-like domain with an unusual catalytic motif, SNDC instead of CXXC, and is therefore thought to be inactive in terms of oxidoreductase activity (Sugiura 2010)
	an Myb DNA-binding domain repeat signature
	an ER-targeting signal sequence,
	an endoplasmic reticulum (ER) membrane retention signal (KKXX-like motif)
	a dileucine motif in the tail

HOMOLOGY

interspecies

homolog to rattus Tmx2

Homologene

FAMILY

thioredoxin superfamily, thioredoxin family protein

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus
	intracellular,nuclear envelope,ext
text	localizes to the ER mitochondria-associated membranes (MAMs)
	TMX2 localizes in the outer nuclear membrane with its N-terminus and C-terminus facing the cytoplasm

basic FUNCTION	thought to be redox-inactive (Sugiura 2010)
	TMX2 works as a regulator of protein nuclear transport, and TMX2 facilitates the nucleocytoplasmic RAN cycle by interaction with nuclear pore proteins
	is a sensor in the mitochondria-associated membranes (MAMs)-regulated redox signaling pathway
	key molecule in the ER-mitochondrial redox regulation of brain development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PMGMS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS