Bioinformatics Database
CNNM4: Cyclin and CBS Domain Divalent Metal Cation Transport Mediator 4
Cellular Process
Enamel formation
Gene Name
CNNM4: Cyclin and CBS Domain Divalent Metal Cation Transport Mediator 4
Gene ID
26504
Gene Sequence
General Description
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.
Alternative titles; symbols
Ancient Conserved Domain Protein 4; ACDP4 KIAA1592
Chromosome
Chromosome 2
Cytogenetic location
2q11.2
Encoded Protein
Metal transporter CNNM4 precursor
Function of the protein in oral and tooth development
Immunohistochemical analysis by Polok et al. (2009) found ubiquitously expressed CNNM4 in the teeth of 2-day-old mice. RT-PCR analysis confirmed Cnnm4 expression in the various parts of the eye and teeth.
Dental and Oral Diseases
Jalili syndrome
(OMIM ID: 607805)
Protein Sequence
>NP_064569.3 metal transporter CNNM4 precursor [Homo sapiens]
MAPVGGGGRPVGGPARGRLLLAAPVLLVLLWALGARGQGSPQQGTIVGMRLASCNKSCGTNPDGIIFVSE
GSTVNLRLYGYSLGNISSNLISFTEVDDAETLHKSTSCLELTKDLVVQQLVNVSRGNTSGVLVVLTKFLR
RSESMKLYALCTRAQPDGPWLKWTDKDSLLFMVEEPGRFLPLWLHILLITVLLVLSGIFSGLNLGLMALD
PMELRIVQNCGTEKERRYARKIEPIRRKGNYLLCSLLLGNVLVNTSLTILLDNLIGSGLMAVASSTIGIV
IFGEILPQALCSRHGLAVGANTILLTKFFMLLTFPLSFPISKLLDFFLGQEIRTVYNREKLMEMLKVTEP
YNDLVKEELNMIQGALELRTKTVEDIMTQLQDCFMIRSDAILDFNTMSEIMESGYTRIPVFEDEQSNIVD
ILYVKDLAFVDPDDCTPLKTITRFYNHPVHFVFHDTKLDAMLEEFKKGKSHLAIVQKVNNEGEGDPFYEV
LGLVTLEDVIEEIIKSEILDESDMYTDNRSRKRVSEKNKRDFSAFKDADNELKVKISPQLLLAAHRFLAT
EVSQFSPSLISEKILLRLLKYPDVIQELKFDEHNKYYARHYLYTRNKPADYFILILQGKVEVEAGKENMK
FETGAFSYYGTMALTSVPSDRSPAHPTPLSRSASLSYPDRTDVSTAATLAGSSNQFGSSVLGQYISDFSV
RALVDLQYIKITRQQYQNGLLASRMENSPQFPIDGCTTHMENLAEKSELPVVDETTTLLNERNSLLHKAS
HENAI
Mutations
9 different mutations in the CNNM4 gene has been reporte, including 3 missense and 3 nonsense mutations, 2 large deletions, and a 1-bp insertion (Parry et al.,2009).
1-BP DUP, 1312C:
Polok et al. (2009) identified homozygosity for a 1-bp duplication (1312dupC) in the CNNM4 gene, creating a frameshift and a new putative stop codon 9 residues downstream.
ARG236GLN:
Polok et al. (2009) identified homozygosity for a 707G-A transition in the CNNM4 gene, resulting in an arg236-to-gln (R236Q) substitution at a highly conserved residue between the first and second transmembrane domains.
LEU324PRO:
Polok et al. (2009) identified homozygosity for a 971T-C transition in the CNNM4 gene, resulting in a leu324-to-pro substitution at a highly conserved residue, just after the fourth transmembrane domain. Her parents were heterozygous for the mutation, which was not found in 1,248 probands with various other forms of retinal degeneration.
GLN564TER:
gln564-to-ter (Q564X) mutation in the CNNM4 gene that was found in compound heterozygous state in a patient with Jalili syndrome by Parry et al. (2009).
SER200TYR:
Parry et al. (2009) identified homozygosity for a 599C-A transversion in the CNNM4 gene, resulting in a ser200-to-tyr (S200Y) substitution at a highly conserved residue.
GLN717TER:
Parry et al. (2009) identified compound heterozygosity for a 2149C-T transition in the CNNM4 gene, resulting in a gln717-to-ter (Q717X) substitution at a highly conserved residue, and an 83-bp deletion beginning at nucleotide 62 of the CNNM4 gene, predicted to cause a frameshift and result in a premature termination codon.
83-BP DEL, NT62:
83-bp deletion in the CNNM4 gene that was found in affected members of a family cosegregating cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome) by Parry et al. (2009),
Related Literature
Polok et al., (2009): https://doi.org/10.1016/j.ajhg.2009.01.006
Parry et al., (2009): https://doi.org/10.1016/j.ajhg.2009.01.009
