KEGG   Homo sapiens (human): 54805
Entry
54805             CDS       T01001                                 

Gene name
CNNM2, ACDP2, HOMG6, HOMGSMR
Definition
(RefSeq) cyclin and CBS domain divalent metal cation transport mediator 2
  KO
K16302  metal transporter CNNM
Organism
hsa  Homo sapiens (human)
Disease
H00577  Symptomatic generalized epilepsies
H01210  Hypomagnesemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    54805 (CNNM2)
Transporters [BR:hsa02000]
 Other transporters
  Others
   54805 (CNNM2)
SSDB
Motif
Pfam: DUF21 CBS cNMP_binding
Other DBs
NCBI-GeneID: 54805
NCBI-ProteinID: NP_060119
OMIM: 607803
HGNC: 103
Ensembl: ENSG00000148842
Vega: OTTHUMG00000018976
Pharos: Q9H8M5(Tbio)
UniProt: Q9H8M5
LinkDB
Structure
PDB: 
4IYS 4IY0 6DJ3 4IY4 4IY2

Position
10q24.32
AA seq 875 aa
MIGCGACEPKVKMAGGQAAAALPTWKMAARRSLSARGRGILQAAAGRLLPLLLLSCCCGA
GGCAAVGENEETVIIGLRLEDTNDVSFMEGGALRVSERTRVKLRVYGQNINNETWSRIAF
TEHERRRHSPGERGLGGPAPPEPDSGPQRCGIRTSDIIILPHIILNRRTSGIIEIEIKPL
RKMEKSKSYYLCTSLSTPALGAGGSGSTGGAVGGKGGSGVAGLPPPPWAETTWIYHDGED
TKMIVGEEKKFLLPFWLQVIFISLLLCLSGMFSGLNLGLMALDPMELRIVQNCGTEKEKN
YAKRIEPVRRQGNYLLCSLLLGNVLVNTTLTILLDDIAGSGLVAVVVSTIGIVIFGEIVP
QAICSRHGLAVGANTIFLTKFFMMMTFPASYPVSKLLDCVLGQEIGTVYNREKLLEMLRV
TDPYNDLVKEELNIIQGALELRTKTVEDVMTPLRDCFMITGEAILDFNTMSEIMESGYTR
IPVFEGERSNIVDLLFVKDLAFVDPDDCTPLKTITKFYNHPLHFVFNDTKLDAMLEEFKK
GKSHLAIVQRVNNEGEGDPFYEVLGIVTLEDVIEEIIKSEILDETDLYTDNRTKKKVAHR
ERKQDFSAFKQTDSEMKVKISPQLLLAMHRFLATEVEAFSPSQMSEKILLRLLKHPNVIQ
ELKYDEKNKKAPEYYLYQRNKPVDYFVLILQGKVEVEAGKEGMKFEASAFSYYGVMALTA
SPVPLSLSRTFVVSRTELLAAGSPGENKSPPRPCGLNHSDSLSRSDRIDAVTPTLGSSNN
QLNSSLLQVYIPDYSVRALSDLQFVKISRQQYQNALMASRMDKTPQSSDSENTKIELTLT
ELHDGLPDETANLLNEQNCVTHSKANHSLHNEGAI
NT seq 2628 nt   +upstreamnt  +downstreamnt
atgattggctgtggcgcttgtgaacccaaagtaaagatggcgggcgggcaggcagccgcc
gcactgcccacttggaagatggcggcgcgccgcagcctcagcgctcgcggccgggggatc
ctgcaggcggctgcggggcggctgctgccgctgctcctgctgagctgctgctgcggtgcg
ggcggctgcgcagcggtgggcgagaatgaggagacggtgatcatcgggctgcgactggag
gacacgaacgacgtgtcgttcatggaagggggggcgctgcgggtgagcgaacggacccgg
gtcaagctgcgggtgtacgggcagaacatcaataacgagacgtggtcccgcatcgccttc
accgagcacgagcggcggcgccacagcccgggggagcgcgggctggggggccccgcgccg
ccagagccggacagcggcccccagcgatgcggcatccgcacctcagacatcatcatcttg
ccccacatcattctcaaccgccgcacctcgggcatcatcgagatcgagatcaaaccgcta
cgcaagatggagaagagcaagtcctattacctgtgcacgtcgctctccacgcccgccctg
ggcgccggcggctcggggtccacgggtggcgccgtcgggggcaagggtggctcgggggtg
gccgggctcccgccgcccccgtgggccgagaccacctggatttaccacgacggcgaggac
accaagatgatcgtaggcgaagagaagaagttcctgctgcccttctggctgcaggtgatc
ttcatttcgctgctgctgtgcctgtcgggcatgttcagcggcctcaacctggggctcatg
gccctggacccgatggagctgcgcatcgtgcagaactgcggcacggagaaggagaagaat
tacgccaagcgcatcgagccggtgcgcaggcagggcaactacctgctgtgctcactgctg
ctgggcaacgtgctggtcaacaccacgctcaccatcctgctcgacgacatcgccggctcg
ggcctcgtggccgtggtagtctccaccatcggtatcgtcatcttcggagagatcgtgccc
caggccatctgctcccggcatggcctggctgtgggggccaacaccatcttcctcaccaag
tttttcatgatgatgaccttccccgcttcctacccggtcagcaagctgctggactgcgtc
ctgggccaggagataggcaccgtctataaccgggaaaaactgctggagatgctccgggtc
accgatccctacaacgacctcgttaaggaggagctgaacatcatccaaggggcgctggag
ctccgcaccaagacggtggaggacgtgatgaccccactccgggactgcttcatgatcacc
ggcgaagccatcctggacttcaacaccatgtctgagatcatggagagcggctacacccgc
attccagtgtttgaaggggagcgctccaatatcgtggacctgctgtttgtcaaagacttg
gccttcgtggatcccgatgactgtacccccctgaaaaccatcaccaaattttataaccac
cccttgcactttgttttcaatgacaccaagttggacgctatgctggaagaatttaagaaa
ggtaaatctcacctggctatcgtgcagcgggtaaacaatgagggagaaggggatccattt
tatgaagttctgggaatcgtcaccttagaagatgtgattgaagaaatcatcaaatctgag
attcttgatgaaacagatttatacactgacaacagaacgaaaaagaaagtggctcaccgg
gaacgaaagcaagatttttctgcctttaagcagacagacagtgagatgaaggttaaaata
tcaccacagctcctcctggccatgcaccgtttcctagcaacagaagtagaagcatttagc
ccatcccagatgtcagagaagatccttctaaggctgctaaagcaccccaatgtcatccag
gaactgaaatatgatgagaagaacaagaaagcccccgaatactacctctaccagcgcaac
aagccagtagactacttcgttctcattctgcaggggaaagtggaagttgaagctgggaaa
gaaggtatgaagtttgaagcgagcgccttctcatactatggcgtgatggccctgacagcc
tctccagttcctttgtccctgtctcgtacctttgttgtcagcagaacagagttgttagca
gcaggttctccaggtgaaaataagtcccctcctcgcccatgtggcttgaatcactcagac
tctctcagtcgaagcgaccggattgacgccgtcacaccaacactggggagcagcaataac
cagctcaattcttcgctcctccaagtctacatccccgattactcggtgcgagccctttcg
gatctgcagtttgttaagatctcaagacagcaataccaaaatgccttgatggcatcccgg
atggacaaaaccccccagtcttcagacagtgaaaacactaaaatcgaattgactcttacg
gagctgcatgacgggttgccagacgagacagccaacctgctcaacgaacagaactgtgtg
acgcacagtaaggccaaccacagcctgcacaacgaaggcgccatctag

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