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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CNNM4-related disorder Likely pathogenic rs758866379 RCV003961783
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (13 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy Likely pathogenic; Pathogenic rs746879923, rs80100937, rs1455470131, rs2078763986, rs2078764558 RCV004814813
RCV004814814
RCV004817721
RCV001075625
RCV001073840
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMAUROSIS HYPERTRICHOSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achromatopsia Achromatopsia BEFREE 20706282
★☆☆☆☆
Found in Text Mining only
Achromatopsia Achromatopsia HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 25347473
★☆☆☆☆
Found in Text Mining only
Amaurosis hypertrichosis Amaurosis hypertrichosis Pubtator 19200525, 21393841, 24194943, 27419834, 29322253, 29421294, 31347285, 32022389, 34875963, 35150469, 40232358 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amaurosis hypertrichosis Amaurosis-hypertrichosis syndrome CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amelogenesis Imperfecta Amelogenesis imperfecta LHGDN 19200525, 19200527
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta Pubtator 19200525, 19200527, 21393841, 24194943, 29421294 Associate
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta BEFREE 19200527, 20706282, 24194943, 29421294
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta HPO_DG
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta CLINVAR_DG
★☆☆☆☆
Found in Text Mining only