CNNM2
entrez
54805
canonical
uniprot
Q9H8M5
canonical
ensembl
ENSG00000148842
resolver
ensp
ENSP00000358891
resolver
ensp
ENSP00000358894
resolver
ensp
ENSP00000392875
resolver
genesymbol
CNNM2
resolver
genesymbol_syn
ACDP2
resolver
hgnc
HGNC:103
resolver
uniprot
Q5T569
resolver
uniprot
Q5T570
resolver
uniprot
Q8WU59
resolver
uniprot
Q9H952
resolver
uniprot
Q9NRK5
resolver
uniprot
Q9NXT4
resolver
uniprot_entry
CNNM2_HUMAN
resolver
uniprot_sec
Q5T569
resolver
uniprot_sec
Q5T570
resolver
uniprot_sec
Q8WU59
resolver
uniprot_sec
Q9H952
resolver
uniprot_sec
Q9NRK5
resolver
uniprot_sec
Q9NXT4
resolver
amino_acid_sequence
MIGCGACEPKVKMAGGQAAAALPTWKMAARRSLSARGRGILQAAAGRLLPLLLLSCCCGAGGCAAVGENEETVIIGLRLEDTNDVSFMEGGALRVSERTRVKLRVYGQNINNETWSRIAFTEHERRRHSPGERGLGGPAPPEPDSGPQRCGIRTSDIIILPHIILNRRTSGIIEIEIKPLRKMEKSKSYYLCTSLSTPALGAGGSGSTGGAVGGKGGSGVAGLPPPPWAETTWIYHDGEDTKMIVGEEKKFLLPFWLQVIFISLLLCLSGMFSGLNLGLMALDPMELRIVQNCGTEKEKNYAKRIEPVRRQGNYLLCSLLLGNVLVNTTLTILLDDIAGSGLVAVVVSTIGIVIFGEIVPQAICSRHGLAVGANTIFLTKFFMMMTFPASYPVSKLLDCVLGQEIGTVYNREKLLEMLRVTDPYNDLVKEELNIIQGALELRTKTVEDVMTPLRDCFMITGEAILDFNTMSEIMESGYTRIPVFEGERSNIVDLLFVKDLAFVDPDDCTPLKTITKFYNHPLHFVFNDTKLDAMLEEFKKGKSHLAIVQRVNNEGEGDPFYEVLGIVTLEDVIEEIIKSEILDETDLYTDNRTKKKVAHRERKQDFSAFKQTDSEMKVKISPQLLLAMHRFLATEVEAFSPSQMSEKILLRLLKHPNVIQELKYDEKNKKAPEYYLYQRNKPVDYFVLILQGKVEVEAGKEGMKFEASAFSYYGVMALTASPVPLSLSRTFVVSRTELLAAGSPGENKSPPRPCGLNHSDSLSRSDRIDAVTPTLGSSNNQLNSSLLQVYIPDYSVRALSDLQFVKISRQQYQNALMASRMDKTPQSSDSENTKIELTLTELHDGLPDETANLLNEQNCVTHSKANHSLHNEGAI
uniprot
proteins
disease_involvement
DISEASE: Hypomagnesemia 6 (HOMG6) [MIM:613882]: A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic. {ECO:0000269|PubMed:21397062}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hypomagnesemia, seizures, and impaired intellectual development 1 (HOMGSMR1) [MIM:616418]: A disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development. {ECO:0000269|PubMed:24699222}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity). {ECO:0000250|UniProtKB:Q3TWN3}.
uniprot
proteins
mass_dalton
96623
uniprot
proteins
protein_family
ACDP family
uniprot
proteins
pubmed
12657465
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21397062
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24699222
uniprot
proteins
sequence_length
875
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 251..271; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 339..359; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 369..389; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins