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CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26504
Gene nameGene Name - the full gene name approved by the HGNC.
Cyclin and CBS domain divalent metal cation transport mediator 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CNNM4
SynonymsGene synonyms aliases
ACDP4, SLC70A4
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Muta
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs74552543 T>C Pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs75267011 G>A Pathogenic-likely-pathogenic Coding sequence variant, genic upstream transcript variant, missense variant
rs75559353 C>T Pathogenic Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs79424354 C>A Pathogenic Coding sequence variant, genic upstream transcript variant, missense variant
rs80100937 C>T Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT027523 hsa-miR-98-5p Microarray 19088304
MIRT624318 hsa-miR-877-3p HITS-CLIP 23824327
MIRT624317 hsa-miR-3667-3p HITS-CLIP 23824327
MIRT624316 hsa-miR-7111-3p HITS-CLIP 23824327
MIRT624315 hsa-miR-6780a-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15840172
GO:0005886 Component Plasma membrane IBA 21873635
GO:0006810 Process Transport IBA 21873635
GO:0007601 Process Visual perception IEA
GO:0010960 Process Magnesium ion homeostasis IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6P4Q7
Protein name Metal transporter CNNM4 (Ancient conserved domain-containing protein 4) (Cyclin-M4)
Protein function Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function. {ECO:0000250, ECO:0000269|Pub
PDB 6G52 , 6RS2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01595 DUF21
187 → 358
Cyclin M transmembrane N-terminal domain
 Domain
PF00571 CBS
441 → 505
CBS domain
 Domain
Sequence 
MAPVGGGGRPVGGPARGRLLLAAPVLLVLLWALGARGQGSPQQGTIVGMRLASCNKSCGT
NPDGIIFVSEGSTVNLRLYGYSLGNISSNLISFTEVDDAETLHKSTSCLELTKDLVVQQL
VNVSRGNTSGVLVVLTKFLRRSESMKLYALCTRAQPDGPWLKWTDKDSLLFMVEEPGRFL
PLWLHILLITVLLVLSGIFSGLNLGLMALDPMELRIVQNCGTEKERRYARKIEPIRRKGN
YLLCSLLLGNVLVNTSLTILLDNLIGSGLMAVASSTIGIVIFGEILPQALCSRHGLAVGA
NTILLTKFFMLLTFPLSFPISKLLDFFLGQEIRTVYNREKLMEMLKVTEPYNDLVKEELN
MIQGALELRTKTVEDIMTQLQDCFMIRSDAILDFNTMSEIMESGYTRIPVFEDEQSNIVD
ILYVKDLAFVDPDDCTPLKTITRFYNHPVHFVFHDTKLDAMLEEFKKGKSHLAIVQKVNN
EGEGDPFYEVLGLVTLEDVIEEIIKSEILDESDMYTDNRSRKRVSEKNKRDFSAFKDADN
ELKVKISPQLLLAAHRFLATEVSQFSPSLISEKILLRLLKYPDVIQELKFDEHNKYYARH
YLYTRNKPADYFILILQGKVEVEAGKENMKFETGAFSYYGTMALTSVPSDRSPAHPTPLS
RSASLSYPDRTDVSTAATLAGSSNQFGSSVLGQYISDFSVRALVDLQYIKITRQQYQNGL
LASRMENSPQFPIDGCTTHMENLAEKSELPVVDETTTLLNERNSLLHKASHENAI
Sequence length 775
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Achromatopsia Achromatopsia rs121918344, rs267606739, rs397515360, rs121918537, rs121918538, rs786200908, rs796051871, rs121918539, rs387906401, rs267606936, rs786200909, rs786200910, rs267606934, rs267606937, rs267606935, rs786200911, rs104893612, rs104893613, rs104893614, rs104893615, rs104893616, rs104893617, rs137852608, rs104893619, rs104893620, rs104893621, rs121434585, rs2101121827, rs146640460, rs199474697, rs372006750, rs786204762, rs373862340, rs773372519, rs768345097, rs201794629, rs786204492, rs786204498, rs150115958, rs753625117, rs786205532, rs869320751, rs761357250, rs796065053, rs797045170, rs797045171, rs797045173, rs797045174, rs761129859, rs797045172, rs757470958, rs552069173, rs777509481, rs886063161, rs745557293, rs1057517388, rs1057517454, rs1057516571, rs1057516504, rs1057516825, rs1057516878, rs1057516866, rs1057517167, rs1057517052, rs1057517053, rs748993388, rs1057516791, rs1057517434, rs1057516782, rs376711003, rs1057518098, rs775796581, rs1554604525, rs1554604767, rs1554604833, rs1362472371, rs1554604851, rs1375507464, rs1554607546, rs1554607553, rs964530890, rs1554608319, rs772725807, rs1554609946, rs1554609956, rs768735888, rs773381712, rs999921351, rs373270306, rs201320564, rs1554610279, rs1554610284, rs35010099, rs1026427970, rs1554610655, rs776896038, rs372302139, rs1554610668, rs775038513, rs765574129, rs764742792, rs1385347376, rs1554611860, rs1554612145, rs1554612159, rs1554612805, rs1554612806, rs1201521544, rs1554613998, rs371318766, rs1554614024, rs1554614022, rs6471482, rs1554614038, rs1391492794, rs1174949911, rs1554614131, rs1554614157, rs1554614423, rs1554618404, rs1554618413, rs1554618417, rs1554618420, rs1052078370, rs1554619292, rs1554619303, rs1554619498, rs1554619500, rs1554619509, rs1442286151, rs1554619513, rs1554619514, rs765383904, rs200805087, rs1554888858, rs1554888861, rs1023522305, rs1554890513, rs1554888353, rs756324901, rs1554888848, rs757622521, rs1554888978, rs1554889905, rs1028838062, rs762773298, rs141386891, rs1553450762, rs138958917, rs1553450764, rs1553227755, rs745308973, rs1554609943, rs1554614402, rs1554609978, rs1554604775, rs1554607548, rs1558820471, rs1558022158, rs1558811557, rs1557917535, rs748981899, rs1557917899, rs1557918619, rs1557918635, rs1557918911, rs1403825722, rs1557920291, rs146606352, rs1557918544, rs1557918638, rs777878533, rs1558820134, rs1000861056, rs998703203, rs1585942791, rs750257554, rs374258471, rs1571134523, rs778114016, rs763041373, rs1571143590, rs1570562309, rs1574385431, rs1574390600, rs1464167194, rs1574391103, rs781227859, rs770786127, rs1586003680, rs1233466909, rs1586047969, rs766703340, rs1692739030, rs1692898861, rs371558158, rs1823261605, rs1330263985, rs1574390811, rs1692509021, rs749842881, rs1692921014, rs757167624, rs201782746, rs761969118, rs1823778696, rs1692508715, rs761554853, rs1227761587, rs201747279, rs183838250
Amelogenesis imperfecta Amelogenesis Imperfecta rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738, rs144411158, rs587776911, rs587776912, rs587776913, rs587776914, rs387907215, rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455, rs587777515, rs587777516, rs587777530, rs139620139, rs587777531, rs587777535, rs587777536, rs587777537, rs606231462, rs1553275034, rs869320671, rs786201004, rs140015315, rs730882118, rs730880297, rs730880298, rs786204825, rs786204826, rs1555409827, rs1057517671, rs1057517672, rs556734208, rs146238585, rs202073531, rs1057519277, rs767907487, rs779823931, rs1060499539, rs1085307111, rs546603773, rs1553275070, rs1553275195, rs752102959, rs1554623490, rs1553888384, rs770804941, rs1553887511, rs557128345, rs1568724130, rs199527325, rs1603038146, rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467, rs772929908, rs762816338, rs1565222166, rs1595312054, rs1866200282, rs2086254952
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Cone dystrophy Cone Dystrophy rs121918537, rs796051871, rs104893967, rs61750172, rs61750173, rs606231180, rs606231181, rs61755783, rs61749668, rs61753046, rs762426409, rs374805348, rs794727197, rs863224908, rs869320709, rs139027297, rs140451304, rs1238632042, rs117522010, rs1023522305, rs531851447, rs1271498710, rs1554186441, rs757622521, rs1028838062, rs1568725951, rs1564801134, rs1557918619, rs1582323732, rs1589705946, rs1589693002, rs1659954489, rs1660447204, rs1660845802, rs1692799480, rs1800113541, rs138924201, rs748084580, rs1883036406, rs1905007623, rs1589690942, rs1589704707, rs1768016995
Unknown
Disease name Disease term dbSNP ID References
Amaurosis-hypertrichosis syndrome Amaurosis hypertrichosis
Disorder of eye Disorder of eye 27419834
Nyctalopia Nyctalopia

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