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FLASH GENE

Symbol

TMEM126A

contributors: shn - updated : 19-04-2013

HGNC name	transmembrane protein 126A
HGNC id	25382

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	OPA7 optic atrophy 7
Location	11q14.1      Physical location : 85.358.962 - 85.367.596
Synonym symbol(s)	DKFZp586C1924

DNA

TYPE	functioning gene
STRUCTURE	8.64 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D11S4147 - D11S1354 - TMEM126A - D11S4197 - D11S1887 - qter

RNA

TRANSCRIPTS	type	messenger

text	is a mitochondrial located mRNA (MLR) PMID:23500070

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032273 5 - 818 NP_115649 21.4 195 - -

EXPRESSION

Rna function	mRNAs are strongly enriched in the vicinity of mitochondria and may be translated in the mitochondrial surface
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 Endocrine thyroid       lowly Homo sapiens Adult NM_032273 Lymphoid/Immune thymus       lowly Homo sapiens Adult NM_032273 Nervous brain       moderately Homo sapiens Adult NM_032273   brain hindbrain cerebellum   moderately Homo sapiens Adult NM_032273   brain       moderately Homo sapiens Fetal NM_032273 Reproductive male system testis     moderately Homo sapiens Adult NM_032273 Urinary kidney       lowly Homo sapiens Adult NM_032273 Visual eye retina     moderately Homo sapiens Adult NM_032273

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum     moderately Homo sapiens Adult NM_032273

cells

System Cell Pubmed Species Stage Rna symbol Visual amacrine cell Mus musculus Adult NM_025460 Visual bipolar cell Mus musculus Adult NM_025460 Visual cone photoreceptor Mus musculus Adult NM_025460 Visual epithelial cell Homo sapiens Adult NM_032273 Visual ganglion cell Mus musculus Adult NM_025460 Visual horizontal association cell Mus musculus Adult NM_025460 Visual Muller cell Mus musculus Adult NM_025460 Visual rod photoreceptor Mus musculus Adult NM_025460

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a Pfam domain of unknown function
	four transmembrane domains
	C- and N-terminal domains face the mitochondrial matrix
	a non-cleavable internal mitochondrial targeting signal (MTS), aa58–86, encompassing the second transmembrane domain

HOMOLOGY

interspecies	ortholog to Tmem126a, Rattus norvegicus
	ortholog to Tmem126a, Mus musculus
	ortholog to tmem126a, Danio rerio
	ortholog to TMEM126A, Pan troglodytes

Homologene

FAMILY

CATEGORY

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
text	strongly associated to the mitochondrial inner membrane close to the cristae

basic FUNCTION	may be essential in the early nucleation process of large mitochondrial complexes
	may be important to the assembly of a protein complex required for the function of retinal ganglion cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OPA7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation     loss of function nonsense mutation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS