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 name Gene Name - the full gene name approved by the HGNC.
Cyclin and CBS domain divalent metal cation transport mediator 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNNM4
Synonyms (NCBI Gene) Gene synonyms aliases
ACDP4, SLC70A4
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(458)
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
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15840172
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0006811 Process Monoatomic ion transport IEA
GO:0007601 Process Visual perception IEA
Other IDs Other 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
607805 105 ENSG00000158158
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
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in heart. {ECO:0000269|PubMed:12657465}.
Sequence 
MAPVGGGGRPVGGPARGRLLLAAPVLLVLLWALGARGQGSPQQGTIVGMRLASCNKSCGT
NPDGIIFVSEGSTVNLRLYGYSLGNISSNLISFTEVDDAETLHKSTSCLELTKDLVVQQL
VNVSRGNTSGVLVVLTKFLRRSESMKLYALCTRAQPDGPWLKWTDKDSLLFMVEEPGRFL
PLWLHILLITVLLVLSGIFSGLNLGLMALDPMELRIVQNCGTEKERRYARKIEPIRRKGN
YLLCSLLLGNVLVNTSLTILLDNLIGSGLMAVASSTIGIVIFGEILPQALCSRHGLAVGA
NTILLTKFFMLLTFPLSFPISKLLDFFLGQEIRTVYNREKLMEMLKVTEPYNDLVKEELN
MIQGALELRTKTVEDIMTQLQDCFMIRSDAILDFNTMSEIMESGYTRIPVFEDEQSNIVD
ILYVKDLAFVDPDDCTPLKTITRFYNHPVHFVFHDTKLDAMLEEFKKGKSHLAIVQKVNN
EGEGDPFYEVLGLVTLEDVIEEIIKSEILDESDMYTDNRSRKRVSEKNKRDFSAFKDADN
ELKVKISPQLLLAAHRFLATEVSQFSPSLISEKILLRLLKYPDVIQELKFDEHNKYYARH
YLYTRNKPADYFILILQGKVEVEAGKENMKFETGAFSYYGTMALTSVPSDRSPAHPTPLS
RSASLSYPDRTDVSTAATLAGSSNQFGSSVLGQYISDFSVRALVDLQYIKITRQQYQNGL
LASRMENSPQFPIDGCTTHMENLAEKSELPVVDETTTLLNERNSLLHKASHENAI
Sequence length 775
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Jalili Syndrome jalili syndrome rs1432600424, rs1574047454, rs75267011, rs746879923, rs74552543, rs1558993255, rs80100937, rs776159012, rs1574047005, rs79424354, rs75559353, rs879255500, rs1455470131 N/A
retinal dystrophy Retinal dystrophy rs80100937, rs2078763986, rs2078764558, rs1455470131 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder, Bipolar I disorder N/A N/A GWAS
Retinitis Pigmentosa retinitis pigmentosa N/A N/A ClinVar
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amaurosis hypertrichosis Associate 19200525, 21393841, 24194943, 27419834, 29322253, 29421294, 31347285, 32022389, 34875963, 35150469, 40232358
Amelogenesis Imperfecta Associate 19200525, 19200527, 21393841, 24194943, 29421294
Cone Dystrophy Associate 34875963
Cone Rod Dystrophies Associate 19200525, 19200527, 21393841, 29421294
Genetic Diseases Inborn Associate 24194943
Leber Congenital Amaurosis Associate 29322253
Myopia Associate 35567543
Retinal Cone Dystrophy 1 Associate 34875963
Retinal Dystrophies Associate 24194943, 24625443, 29322253
Silicosiderosis Associate 24194943