ENSG00000158158


Homo sapiens

Features
Gene ID: ENSG00000158158
  
Biological name :CNNM4
  
Synonyms : CNNM4 / cyclin and CBS domain divalent metal cation transport mediator 4 / Q6P4Q7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q11.2
Gene start: 96760902
Gene end: 96811891
  
Corresponding Affymetrix probe sets: 218900_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000366275
NCBI entrez gene - 26504     See in Manteia.
OMIM - 607805
RefSeq - XM_017003799
RefSeq - NM_020184
RefSeq - XM_005263915
RefSeq - XM_011510955
RefSeq - XM_005263914
RefSeq Peptide - NP_064569
swissprot - Q6P4Q7
Ensembl - ENSG00000158158
  
Related genetic diseases (OMIM): 217080 - Jalili syndrome, 217080
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Cnnm4ENSMUSG00000037408Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CNNM2 / Q9H8M5 / cyclin and CBS domain divalent metal cation transport mediator 2ENSG0000014884264
CNNM1 / Q9NRU3 / cyclin and CBS domain divalent metal cation transport mediator 1ENSG0000011994647
CNNM3 / Q8NE01 / cyclin and CBS domain divalent metal cation transport mediator 3ENSG0000016876341


Protein motifs (from Interpro)
Interpro ID Name
 IPR000595  Cyclic nucleotide-binding domain
 IPR000644  CBS domain
 IPR002550  CNNM, transmembrane domain
 IPR014710  RmlC-like jelly roll fold
 IPR018490  Cyclic nucleotide-binding-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0010960 magnesium ion homeostasis IEA
 biological_processGO:0015693 magnesium ion transport IEA
 biological_processGO:0031214 biomineral tissue development IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0055065 metal ion homeostasis IDA
 biological_processGO:0070166 enamel mineralization IEA
 biological_processGO:1903830 magnesium ion transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0043025 neuronal cell body IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015081 sodium ion transmembrane transporter activity IEA
 molecular_functionGO:0015095 magnesium ion transmembrane transporter activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000543 Pale optic disks 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000551 Abnormal color vision 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0000662 Night blindness 
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 HP:0000670 Carious teeth 
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 HP:0000705 Amelogenesis imperfecta 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0007803 Congenital complete achromatopsia 
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 HP:0011073 Abnormality of dental color "A developmental defect of tooth color." [HPO:ibailleulforestier]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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