Gene Gene information from NCBI Gene database.
Entrez ID 26504
Gene name Cyclin and CBS domain divalent metal cation transport mediator 4
Gene symbol CNNM4
Synonyms (NCBI Gene)
ACDP4SLC70A4
Chromosome 2
Chromosome location 2q11.2
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607805 105 ENSG00000158158
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
NTILLTKFFMLLTFPLSFPISKLLDFFLGQEIRTVYNREKLMEMLKVTEPYNDLVKEE
LN
MIQGALELRTKTVEDIMTQLQDCFMIRSDAILDFNTMSEIMESGYTRIPVFEDEQSNIVD
ILYVKDLAFVDPDDCTPLKTITRFYNHPVHFVFHDTKLDAMLEEFKKGKSHLAIVQKVNN
EGEGDPFYEVLGLVTLEDVIEEIIK
SEILDESDMYTDNRSRKRVSEKNKRDFSAFKDADN
ELKVKISPQLLLAAHRFLATEVSQFSPSLISEKILLRLLKYPDVIQELKFDEHNKYYARH
YLYTRNKPADYFILILQGKVEVEAGKENMKFETGAFSYYGTMALTSVPSDRSPAHPTPLS
RSASLSYPDRTDVSTAATLAGSSNQFGSSVLGQYISDFSVRALVDLQYIKITRQQYQNGL
LASRMENSPQFPIDGCTTHMENLAEKSELPVVDETTTLLNERNSLLHKASHENAI
Sequence length 775
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
143
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CNNM4-related disorder Likely pathogenic rs758866379 RCV003961783
Jalili syndrome Pathogenic; Likely pathogenic rs2153349278, rs2469454032, rs746879923, rs75267011, rs74552543, rs80100937, rs79424354, rs75559353, rs2469450195, rs879255500, rs2469455174, rs1455470131, rs1432600424, rs1574047454, rs1558993255
View all (2 more)
RCV001839443
RCV002294586
RCV000002981
RCV000002982
RCV000002983
RCV000002984
RCV000002985
RCV000002986
RCV000002987
RCV000239384
RCV003330189
RCV000499392
RCV000677261
RCV000855673
RCV000786951
RCV000986792
RCV001002983
RCV001029859
Retinal dystrophy Likely pathogenic; Pathogenic rs746879923, rs80100937, rs1455470131, rs2078763986, rs2078764558 RCV004814813
RCV004814814
RCV004817721
RCV001075625
RCV001073840
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs200517269 RCV005892035
Colon adenocarcinoma Uncertain significance rs200517269 RCV005892034
Familial pancreatic carcinoma Uncertain significance rs200517269 RCV005892036
Gastric cancer - rs2466428393 RCV005931707
Associations from Text MiningDisease 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