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FLASH GENE

Symbol

CNNM2

contributors: mct - updated : 15-10-2018

HGNC name	cyclin M2
HGNC id	103

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HOMGSMR1 hypomagnesemia, seizures, and mental retardation 1
Location	10q24.32      Physical location : 104.678.113 - 104.838.238
Synonym name	ancient conserved domain protein 2
	metal transporter CNNM2
Synonym symbol(s)	ACDP2

DNA

TYPE	functioning gene
STRUCTURE	160.13 kb     8 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_017649 8 - 4071 NP_060119 - 875 brain, kidney, placenta (highly), skeletal muscle (weakly), lung, spleen, testis 2012 22399287 isoform 1, CNNM2a both CNNM2a and CNNM2b can form homomultimers as well as heteromultimers NM_199076 7 - 4005 NP_951058 - 853 kidney, brain, spleen, testis 2012 22399287 isoform 2 22-AAs-shorter isoform b is translated from splice variant 2 (Cnnm2v2), which lacks exon 6 both CNNM2a and CNNM2b can form homomultimers as well as heteromultimers NM_199077 2 - 2037 NP_951059 - 552 - 2012 22399287 isoform 3

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 Lymphoid/Immune spleen       highly Homo sapiens Nervous brain       moderately Homo sapiens Reproductive male system testis     highly Homo sapiens Urinary kidney nephron     predominantly Homo sapiens   kidney tubule convoluted tubule distal tubule predominantly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Urinary tubular cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a long N-terminal signal peptide of 64 amino acids, that is cleaved in the ER
	extracellular N terminus
	two conserved CBS forming a stable globular domain, conserved cystathionine-&
	946;-synthase (CBS) domains and with unique binding ability to ATP
	five potential transmembrane (TM) domains
	an intracellular C terminus

HOMOLOGY

interspecies	homolog to murine Cnnm2 (98.3pc)
	homolog to rattus Cnnm2 (97.7pc)

Homologene

FAMILY

ACDP family, CNNM family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,nucleus
text	reside at the plasma membrane

basic FUNCTION	may be involved in transport of ions Mg2+, Co2+, Mn2+, Sr2+, Ba2+, Cu2+, Fe2+
	having a role in the cell cycle
	would likely sense intracellular Mg2+ concentrations and regulate other Mg2+ transporters

CELLULAR PROCESS	cell cycle, division, mitosis
	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

text	ion transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

ARL15 also inhibits CNNM2 Mg2+ efflux

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HOMGSMR1

Susceptibility

Variant & Polymorphism SNP	SNP is associated with blood pressure and/or hypertension in the Japanese (Takeuchi 2010)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS