Human Gene CNNM4 (ENST00000377075.3) from GENCODE V44
Description: Homo sapiens cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4), mRNA. (from RefSeq NM_020184) RefSeq Summary (NM_020184): 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. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]. Gencode Transcript: ENST00000377075.3 Gencode Gene: ENSG00000158158.12 Transcript (Including UTRs) Position: hg38 chr2:96,760,902-96,811,874 Size: 50,973 Total Exon Count: 7 Strand: + Coding Region Position: hg38 chr2:96,761,000-96,809,517 Size: 48,518 Coding Exon Count: 7
ID:CNNM4_HUMAN DESCRIPTION: RecName: Full=Metal transporter CNNM4; AltName: Full=Ancient conserved domain-containing protein 4; AltName: Full=Cyclin-M4; 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. SUBUNIT: Interacts with COX11. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Widely expressed. Highly expressed in heart. DISEASE: Defects in CNNM4 are the cause of Jalili syndrome (JALIS) [MIM:217080]. A syndrome characterized by the association of cone- rod dystrophy and amelogenesis imperfecta. MISCELLANEOUS: Shares weak sequence similarity with the cyclin family, explaining its name. However, it has no cyclin-like function in vivo. SIMILARITY: Belongs to the ACDP family. SIMILARITY: Contains 2 CBS domains. SIMILARITY: Contains 1 DUF21 domain. SEQUENCE CAUTION: Sequence=AAF86370.1; Type=Frameshift; Positions=108, 120; Sequence=AAY14963.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14266.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00571 - CBS domain PF01595 - Domain of unknown function DUF21
ModBase Predicted Comparative 3D Structure on Q6P4Q7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
