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CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 [ Homo sapiens (human) ]

Gene ID: 26504, updated on 7-Dec-2018

Summary

Official Symbol
CNNM4provided by HGNC
Official Full Name
cyclin and CBS domain divalent metal cation transport mediator 4provided by HGNC
Primary source
HGNC:HGNC:105
See related
Ensembl:ENSG00000158158 MIM:607805
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACDP4
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. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]
Expression
Broad expression in colon (RPKM 26.1), thyroid (RPKM 9.4) and 23 other tissues See more
Orthologs

Genomic context

See CNNM4 in Genome Data Viewer
Location:
2q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (96760902..96811891)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (97426639..97477628)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene fer-1 like family member 5 Neighboring gene lectin, mannose binding 2 like Neighboring gene microRNA 3127 Neighboring gene CNNM3 divergent transcript Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cone-rod dystrophy amelogenesis imperfecta
MedGen: C1857588 OMIM: 217080 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37746, FLJ42791, KIAA1592

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sodium ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
enamel mineralization IEA
Inferred from Electronic Annotation
more info
 
magnesium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
magnesium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
metal ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
metal transporter CNNM4
Names
ancient conserved domain protein 4
ancient conserved domain-containing protein 4
cyclin-M4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016608.1 RefSeqGene

    Range
    5001..55990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020184.4NP_064569.3  metal transporter CNNM4 precursor

    See identical proteins and their annotated locations for NP_064569.3

    Status: REVIEWED

    Source sequence(s)
    AB046812, BC063295
    Consensus CDS
    CCDS2024.2
    UniProtKB/Swiss-Prot
    Q6P4Q7
    Related
    ENSP00000366275.2, ENST00000377075.2
    Conserved Domains (3) summary
    COG0517
    Location:373500
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:382502
    CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
    pfam01595
    Location:196358
    DUF21; Domain of unknown function DUF21

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    96760902..96811891
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263914.4XP_005263971.1  metal transporter CNNM4 isoform X1

    Conserved Domains (3) summary
    COG0517
    Location:373500
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:382502
    CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
    pfam01595
    Location:196358
    DUF21; Domain of unknown function DUF21
  2. XM_005263915.4XP_005263972.1  metal transporter CNNM4 isoform X2

    Conserved Domains (3) summary
    COG0517
    Location:373500
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:382502
    CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
    pfam01595
    Location:196358
    DUF21; Domain of unknown function DUF21
  3. XM_011510955.3XP_011509257.1  metal transporter CNNM4 isoform X3

    Conserved Domains (3) summary
    COG0517
    Location:373500
    CBS; CBS domain [Signal transduction mechanisms]
    cd04590
    Location:382502
    CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
    pfam01595
    Location:196358
    DUF21; Domain of unknown function DUF21
  4. XM_011510956.3XP_011509258.1  metal transporter CNNM4 isoform X4

    Conserved Domains (2) summary
    pfam01595
    Location:196358
    DUF21; Domain of unknown function DUF21
    cl15354
    Location:382474
    CBS_pair; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
  5. XM_017003799.1XP_016859288.1  metal transporter CNNM4 isoform X5

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