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

Gene ID: 22891, updated on 3-Jun-2018
Official Symbol
ZNF365provided by HGNC
Official Full Name
zinc finger protein 365provided by HGNC
Primary source
HGNC:HGNC:18194
See related
Ensembl:ENSG00000138311 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]
Expression
Biased expression in brain (RPKM 9.2), esophagus (RPKM 2.1) and 3 other tissues See more
Orthologs
See ZNF365 in Genome Data Viewer
Location:
10q21.2
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 LOC105378325 Neighboring gene uncharacterized LOC283045 Neighboring gene RNA, 7SL, cytoplasmic 591, pseudogene Neighboring gene uncharacterized LOC105378327 Neighboring gene aldehyde dehydrogenase 7 family member A1 pseudogene 4 Neighboring gene 2-aminoethanethiol dioxygenase

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Uric acid nephrolithiasis, susceptibility to
MedGen: C2700426 OMIM: 605990 GeneReviews: Not available
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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
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cerebellar molecular layer morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite arborization ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of DNA strand resection involved in replication fork processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
microtubule organizing center IDA
Inferred from Direct Assay
more info
 
Preferred Names
protein ZNF365
Names
DISC1-binding zinc-finger protein
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
    ENSP00000378674.3, OTTHUMP00000019672, ENST00000395254.7, 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
    ENSP00000378675.3, OTTHUMP00000179098, ENST00000395255.7, OTTHUMT00000048240
    Conserved Domains (1) summary
    TIGR02168
    Location:177290
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  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
    ENSP00000387091.3, OTTHUMP00000179097, ENST00000410046.7, OTTHUMT00000277038
    Conserved Domains (1) summary
    TIGR02168
    Location:177290
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  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
    ENSP00000378672.1, OTTHUMP00000179095, ENST00000395251.5, OTTHUMT00000277036

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_000010.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017015937.2XP_016871426.1  protein ZNF365 isoform X1

  2. XM_017015940.1XP_016871429.1  protein ZNF365 isoform X4

  3. XM_017015941.1XP_016871430.1  protein ZNF365 isoform X5

  4. XM_017015938.1XP_016871427.1  protein ZNF365 isoform X2

  5. XM_017015939.1XP_016871428.1  protein ZNF365 isoform X3

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