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FLASH GENE

Symbol

SPEG

contributors: mct - updated : 28-08-2018

HGNC name	SPEG complex locus
HGNC id	16901

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CNM5 centronuclear myopathy-5
Location	2q35      Physical location : 220.299.699 - 220.358.352
Genatlas name	aortic preferentially expressed gene
	striated muscle preferentially expressed protein kinase
Synonym name	nuclear protein, marker for differentiated aortic smooth muscle and down-regulated with vascular injury
	striated muscle preferentially expressed protein
Synonym symbol(s)	APEG1, BPEG, KIAA1297, MGC12676, SPEGalpha, SPEGbeta
EC.number	2.7.11.1

DNA

TYPE	functioning gene
STRUCTURE	5.87 kb     4 Exon(s)

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001173476 5 splicing 1449 NP_001166947 - 113 vascular smooth muscle 2009 1911825 APEG-1 SPEGA - splicing 9000 - - skeletal muscle and heart 2009 1911825 NM_005876 41 splicing 10650 NP_005867 355 3267 skeletal muscle and heart 2009 1911825 SPEGB APEGB - splicing 4000 - - brain Aorta 2009 1911825

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 Cardiovascular heart       highly   vessels aorta       Digestive esophagus       highly   intestine small intestine     highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth       Muscular striatum skeletal   highly Homo sapiens Muscular striatum cardiac   predominantly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	transcript with an E box motif that mediates gene expression restricted to vascular smooth muscle cells
	immunoglobulin domain C-2type

HOMOLOGY

interspecies

ortholog to rattus Apeg1

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus
text	localizes in a double line, flanking desmin over the Z lines, and is apparently in alignment with the terminal cisternae of the sarcoplasmic reticulum

basic FUNCTION

involved in differentiation of vascular smooth muscle cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	SPEG was identified as an MTM1-interacting protein
	SPEG interacts with myospryn complex proteins (CMYA5, FSD2, RYR1), and its deficiency results in myospryn complex abnormalities
	SPEG is required for stability of excitation-contraction coupling (ECC) complexes and interacts with esterase D (ESD), CMYA5, and Fibronectin Type III and FSD2 in cardiac and skeletal muscle

cell & other

REGULATION

Other

regulated by the DES LCR

ASSOCIATED DISORDERS

corresponding disease(s)

CNM5

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Speg mutant mice exhibited significant neonatal mortality, with increased death occurring by 2 days after birth