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    ZNF365 zinc finger protein 365 [ Homo sapiens (human) ]

    Gene ID: 22891, updated on 5-Jul-2015
    Official Symbol
    ZNF365provided by HGNC
    Official Full Name
    zinc finger protein 365provided by HGNC
    Primary source
    HGNC:HGNC:18194
    See related
    Ensembl:ENSG00000138311; HPRD:06380; MIM:607818; Vega:OTTHUMG00000018302
    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
    UAN; Su48; ZNF365D
    Summary
    This gene encodes several isoforms which have different expression patterns and functions. Mutation in this gene is associated with uric acid nephrolithiasis (UAN). Alternatively spliced variants, encoding distinct proteins, have been identified. [provided by RefSeq, May 2010]
    Orthologs
    See ZNF365 in Epigenomics, MapViewer
    Location:
    10q21.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (62374157..62672011)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (64133916..64431771)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378326 Neighboring gene rhotekin 2 Neighboring gene uncharacterized LOC105378325 Neighboring gene uncharacterized LOC283045 Neighboring gene uncharacterized LOC105378327 Neighboring gene aldehyde dehydrogenase 7 family, member A1 pseudogene 4 Neighboring gene 2-aminoethanethiol (cysteamine) dioxygenase

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Uric acid nephrolithiasis, susceptibility to
    MedGen: C2700426 OMIM: 605990 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?
    NHGRI GWA Catalog
    A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
    NHGRI GWA Catalog
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    NHGRI GWA Catalog
    Common variants in ZNF365 are associated with both mammographic density and breast cancer risk.
    NHGRI GWA Catalog
    Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
    NHGRI GWA Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    NHGRI GWA Catalog
    Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.
    NHGRI GWA Catalog
    Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3.
    NHGRI GWA Catalog
    Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
    NHGRI GWA Catalog
    Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
    NHGRI GWA Catalog
    Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium.
    NHGRI GWA Catalog
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    NHGRI GWA Catalog
    Genome-wide association study identifies five new breast cancer susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
    NHGRI GWA Catalog
    Genome-wide association study of intelligence: additive effects of novel brain expressed genes.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0844, MGC41821, MGC87345

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule organizing center IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein ZNF365
    Names
    protein su48
    talanin

    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_021209.1 RefSeqGene

      Range
      5001..302856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014951.2NP_055766.2  protein ZNF365 isoform A

      See identical proteins and their annotated locations for NP_055766.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) differs in the 3' coding region and UTR compared to variant C. The resulting protein (isoform A) is shorter and has a distinct C-terminus compared to isoform C.
      Source sequence(s)
      AB020651, AC024598, BC017841, BC060817, DB476702
      Consensus CDS
      CCDS31209.1
      UniProtKB/Swiss-Prot
      Q70YC5
      Related
      ENSP00000378674, OTTHUMP00000019672, ENST00000395254, OTTHUMT00000048238
      Conserved Domains (1) summary
      PRK00286
      Location:159314
      xseA; exodeoxyribonuclease VII large subunit; Reviewed
    2. NM_199450.2NP_955522.1  protein ZNF365 isoform B

      See identical proteins and their annotated locations for NP_955522.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) differs in the 3' coding region and UTR compared to variant C. The resulting protein (isoform B) is shorter and has a distinct C-terminus compared to isoform C.
      Source sequence(s)
      AJ505148, BC017841, BF512570, DB476702
      Consensus CDS
      CCDS41531.1
      UniProtKB/Swiss-Prot
      Q70YC5
      Related
      ENSP00000378675, OTTHUMP00000179098, ENST00000395255, OTTHUMT00000048240
      Conserved Domains (1) summary
      pfam13654
      Location:158235
      AAA_32; AAA domain
    3. NM_199451.2NP_955523.1  protein ZNF365 isoform C

      See identical proteins and their annotated locations for NP_955523.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (C) encodes the longest isoform (C).
      Source sequence(s)
      AJ505149, BC017841, DB476702
      Consensus CDS
      CCDS7264.1
      UniProtKB/Swiss-Prot
      Q70YC5
      Related
      ENSP00000387091, OTTHUMP00000179097, ENST00000410046, OTTHUMT00000277038
      Conserved Domains (1) summary
      pfam13654
      Location:158235
      AAA_32; AAA domain
    4. NM_199452.3NP_955524.3  protein ZNF365 isoform D

      See identical proteins and their annotated locations for NP_955524.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (D) differs in the 5' coding region and UTR, and has multiple coding region differences. These differences cause translation initiation at an alternate start codon compared to variant C. The resulting protein (isoform D) is shorter and has a distinct N-terminus compared to isoform C.
      Source sequence(s)
      AC024598, AJ505150
      Consensus CDS
      CCDS7265.1
      UniProtKB/Swiss-Prot
      Q70YC4
      Related
      ENSP00000378672, OTTHUMP00000179095, ENST00000395251, OTTHUMT00000277036

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

      Range
      62374157..62672011
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539533.1XP_011537835.1  

    2. XM_011539530.1XP_011537832.1  

    3. XM_011539532.1XP_011537834.1  

    4. XM_011539531.1XP_011537833.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      64416070..64713897
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)