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FLASH GENE

Symbol

THOC2

contributors: mct - updated : 16-09-2015

HGNC name	THO complex 2
HGNC id	19073

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRX12 mental retardation,12
Location	Xq25      Physical location : 122.734.412 - 122.866.904
Synonym name	chromosome X open reading frame 3
Synonym symbol(s)	THO2, CXorf3, dJ506G2.1, MRX12, MRX35, dJ506G2.1, hTREX120

DNA

TYPE	functioning gene
STRUCTURE	132.50 kb     39 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_001081550 39 - 5625 NP_001075019 182.6 1593 - - variant 2 - - 5618 169.45 1478 - -

EXPRESSION

Type	ubiquitous

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 pharynx         Hearing/Equilibrium ear inner cochlea     Lymphoid/Immune lymph node         Nervous brain forebrain cerebral cortex   highly Homo sapiens   brain       highly Homo sapiens Fetal   brain limbic system hippocampus     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to yeast tho2
	ortholog to murine Thoc2

Homologene

FAMILY

THOC2 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles

basic FUNCTION	required for efficient transcription elongation and playing a role in the coupling between transcription, mRNA metabolism and export
	is likely an essential mRNA-export factor
	THOC2 and the nuclear mRNA-export complex are crucial factors for proper neuronal development (pMID: 26166480)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	part of the TREX (transcription/export) complex
	component of the evolutionarily conserved multiprotein THO complex, involved in mRNA export from nucleus
	forms part of the THO sub-complex (THOC1–3 and THOC5–7), which is an essential component of the large TREX complex

INTERACTION

DNA

RNA

binding

small molecule

protein

THOC2 can play specific roles in neuronal cells and, possibly in combination with PTK2 reduction, may affect normal neural network formation, leading to cognitive impairment and cerebellar congenital hypoplasia

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRX12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional fusion       PTK2-THOC2 gene fusion in a patient with psychomotor retardation and congenital cerebellar hypoplasia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS