Cyclin M4

Alternative Names

  • CNNM4
  • Ancient Conserved Domain Protein 4
  • ACDP4
  • KIAA1592

Associated Diseases

Jalili Syndrome
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OMIM Number

607805

NCBI Gene ID

26504

Uniprot ID

Q6P4Q7

Length

50990 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Metal transporter CNNM4

Molecular Mass

86607Da

Amino Acid Count

775

Genomic Location

chr2:96760902-96811891

Gene Map Locus
2q11.2

Description

The CNNM4 (Cyclin M4) gene encodes metal transporter CNNM4 protein that belongs to the ACDP (ancient conserved domain protein ) family. This family of proteins is characterized by the presence of a highly conserved region found in evolutionarily divergent species from bacteria to mammals. Metal transporter CNNM4 protein is considered to be a metal ion transporter that plays a role in sensory neuron functions due to its interaction with COX11, an intracellular metal ion chaperone. It may also be involved with biomineralization and retinal function. Although the protein shares weak sequence similarity with the cyclin family, it has no cyclin-like function in vivo. Histological studies in mice show the localization of the protein within the retina and in developing teeth, where it is highly expressed.

Mutations in the CNNM4 protein have been implicated in the pathogenesis of Jalili syndrome, a condition characterized by the comorbid occurrence of cone-rod dystrophy and amelogenesis imperfecta. Additionally, CNNM4 gene mutations are also associated with Amaurosis Congenita Cone-Rod Type with Congenital Hypertrichosis.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020184.3:c.1813C>TPalestineNC_000002.12:g.96799188C>TUncertain SignificanceJalili SyndromeNG_016608.1:g.43287C>T; NM_020184.3:c.1813C>T; NP_064569.3:p.Arg605Ter1021713187
NM_020184.3:c.509T>CQatar; United Arab Emi...NC_000002.12:g.96761508T>CLikely PathogenicJalili SyndromeNG_016608.1:g.5607T>C; NM_020184.3:c.509T>C; NP_064569.3:p.Leu170Pro
NM_020184.3:c.599C>APalestineNC_000002.12:g.96761598C>APathogenicLikely Pathogenic, PathogenicJalili SyndromeNG_016608.1:g.5697C>A; NM_020184.3:c.599C>A; NP_064569.3:p.Ser200Tyr794243542851
NM_020184.3:c.707G>ALebanonNC_000002.12:g.96761706G>ALikely Pathogenic, PathogenicLikely PathogenicJalili SyndromeNG_016608.1:g.5805G>A; NM_020184.3:c.707G>A ; NP_064569.3:p.Arg236Gln752670112848
NM_020184.4:c.1484C>TSaudi ArabiaNC_000002.12:g.96797093C>TUncertain SignificanceLikely PathogenicRetinitis PigmentosaNG_016608.1:g.41192C>T; NM_020184.4:c.1484C>T; NP_064569.3:p.Thr495Ile13318549961502683
NM_020184.4:c.734C>TSaudi ArabiaNC_000002.12:g.96761733C>TLikely PathogenicLikely PathogenicLeber Congenital Amaurosis 1NG_016608.1:g.5832C>T; NM_020184.4:c.734C>T; NP_064569.3:p.Ser245Leu786205530191119

Other Reports

Egypt

[See: Palestine > Jalili, 2010].

Jordan

[See: Palestine > Parry et al., 2009].

Saudi Arabia

[See: Palestine > Parry et al., 2009; Jalili, 2010].

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