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    CNNM3 cyclin and CBS domain divalent metal cation transport mediator 3 [ Homo sapiens (human) ]

    Gene ID: 26505, updated on 7-Oct-2018

    Summary

    Official Symbol
    CNNM3provided by HGNC
    Official Full Name
    cyclin and CBS domain divalent metal cation transport mediator 3provided by HGNC
    Primary source
    HGNC:HGNC:104
    See related
    Ensembl:ENSG00000168763 MIM:607804; Vega:OTTHUMG00000130531
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACDP3
    Expression
    Ubiquitous expression in duodenum (RPKM 7.6), small intestine (RPKM 6.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See CNNM3 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (96814946..96837109)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (97480950..97501121)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 4 Neighboring gene microRNA 3127 Neighboring gene CNNM3 divergent transcript Neighboring gene ankyrin repeat domain 23 Neighboring gene ankyrin repeat domain 39

    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

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20018, DKFZp434I1016

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    metal transporter CNNM3
    Names
    ancient conserved domain protein 3
    ancient conserved domain-containing protein 3
    cyclin-M3

    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.

    mRNA and Protein(s)

    1. NM_017623.4NP_060093.3  metal transporter CNNM3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_060093.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC092636, AK126847
      Consensus CDS
      CCDS2025.1
      UniProtKB/Swiss-Prot
      Q8NE01
      Related
      ENSP00000305449.3, OTTHUMP00000161090, ENST00000305510.3, OTTHUMT00000252952
      Conserved Domains (2) summary
      COG1253
      Location:221467
      TlyC; Hemolysin or related protein, contains CBS domains [General function prediction only]
      cd04590
      Location:323443
      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 ...
    2. NM_199078.2NP_951060.1  metal transporter CNNM3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_951060.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC092636, AK126847, BC007199
      Consensus CDS
      CCDS2026.1
      UniProtKB/Swiss-Prot
      Q8NE01
      Related
      ENSP00000366260.3, OTTHUMP00000161091, ENST00000377060.7, OTTHUMT00000252953
      Conserved Domains (1) summary
      cd04590
      Location:323408
      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 ...

    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
      96814946..96837109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510957.3XP_011509259.1  metal transporter CNNM3 isoform X1

      Conserved Domains (2) summary
      COG1253
      Location:221467
      TlyC; Hemolysin or related protein, contains CBS domains [General function prediction only]
      cd04590
      Location:323443
      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 ...
    2. XM_017003800.2XP_016859289.1  metal transporter CNNM3 isoform X2

    RNA

    1. XR_001738702.2 RNA Sequence

    2. XR_001738701.2 RNA Sequence

    3. XR_001738700.2 RNA Sequence

    4. XR_244887.5 RNA Sequence

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