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    ZNF385D zinc finger protein 385D [ Homo sapiens (human) ]

    Gene ID: 79750, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF385Dprovided by HGNC
    Official Full Name
    zinc finger protein 385Dprovided by HGNC
    Primary source
    HGNC:HGNC:26191
    See related
    Ensembl:ENSG00000151789 AllianceGenome:HGNC:26191
    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
    ZNF659
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 1.9), brain (RPKM 1.5) and 16 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    3p24.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (21412218..22372763, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (21422674..21761443, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (21453710..21792702, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376988 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:21245759-21245949 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:21440269-21440769 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:21447352-21447855 Neighboring gene VENT homeobox pseudogene 7 Neighboring gene NANOG hESC enhancer GRCh37_chr3:21558661-21559162 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:21584849-21585429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:21589175-21589999 Neighboring gene ZNF385D antisense RNA 1 Neighboring gene MPRA-validated peak4572 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68017 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68021 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68035 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68037 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68058 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68089 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68153 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68192 Neighboring gene ZNF385D antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:22029852-22030429 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68287 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68298 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_68318 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:22347885-22348477 Neighboring gene high mobility group box 1 pseudogene 5 Neighboring gene FCRL4 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide association study of shared components of reading disability and language impairment. Eicher JD, et al. Genes Brain Behav, 2013 Nov. PMID 24024963, Free PMC Article
    2. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Kasperaviciūte D, et al. Brain, 2010 Jul. PMID 20522523, Free PMC Article
    3. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Ferreira MA, et al. Nat Genet, 2008 Sep. PMID 18711365, Free PMC Article
    4. Host determinants of HIV-1 control in African Americans. Pelak K, et al. J Infect Dis, 2010 Apr 15. PMID 20205591, Free PMC Article
    5. Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. Velez Edwards DR, et al. Hum Genet, 2013 Mar. PMID 23192594, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF385D is a candidate gene for reading disability and language impairment.
      Title: Genome-wide association study of shared components of reading disability and language impairment.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
    EBI GWAS Catalog
    Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
    EBI GWAS Catalog
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Host determinants of HIV-1 control in African Americans.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22419

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 385D
    Names
    zinc finger protein 659

    NCBI Reference Sequences (RefSeq)

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    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_024697.3 → NP_078973.1  zinc finger protein 385D

      See identical proteins and their annotated locations for NP_078973.1

      Status: VALIDATED

      Source sequence(s)
      AC104183, AK026072
      Consensus CDS
      CCDS2636.1
      UniProtKB/Swiss-Prot
      Q9H6B1
      Related
      ENSP00000281523.2, ENST00000281523.8
      Conserved Domains (2) summary
      sd00020
      Location:206 → 228
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:267 → 291
      zf-met; Zinc-finger of C2H2 type

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      21412218..22372763 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007192.2 → XP_016862681.1  zinc finger protein 385D isoform X2

      UniProtKB/TrEMBL
      A0A2R8YG37
      Related
      ENSP00000495609.3, ENST00000494108.3
      Conserved Domains (2) summary
      sd00020
      Location:307 → 329
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:368 → 392
      zf-met; Zinc-finger of C2H2 type

    2. XM_017007191.2 → XP_016862680.1  zinc finger protein 385D isoform X1

      UniProtKB/TrEMBL
      A0A994J5P6
      Related
      ENSP00000516216.1, ENST00000706131.1
      Conserved Domains (2) summary
      sd00020
      Location:326 → 348
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:388 → 411
      zf-met; Zinc-finger of C2H2 type

    3. XM_017007199.2 → XP_016862688.1  zinc finger protein 385D isoform X12

      Conserved Domains (2) summary
      sd00020
      Location:173 → 195
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:235 → 258
      zf-met; Zinc-finger of C2H2 type

    4. XM_047448956.1 → XP_047304912.1  zinc finger protein 385D isoform X4

    5. XM_047448960.1 → XP_047304916.1  zinc finger protein 385D isoform X11

    6. XM_017007198.2 → XP_016862687.1  zinc finger protein 385D isoform X9

    7. XM_017007195.2 → XP_016862684.1  zinc finger protein 385D isoform X5

      Conserved Domains (2) summary
      sd00020
      Location:240 → 262
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:302 → 325
      zf-met; Zinc-finger of C2H2 type

    8. XM_047448958.1 → XP_047304914.1  zinc finger protein 385D isoform X8

    9. XM_017007193.2 → XP_016862682.1  zinc finger protein 385D isoform X3

      Conserved Domains (2) summary
      sd00020
      Location:255 → 277
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:317 → 340
      zf-met; Zinc-finger of C2H2 type

    10. XM_017007196.2 → XP_016862685.1  zinc finger protein 385D isoform X6

      Conserved Domains (2) summary
      sd00020
      Location:225 → 247
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:287 → 310
      zf-met; Zinc-finger of C2H2 type

    11. XM_017007197.2 → XP_016862686.1  zinc finger protein 385D isoform X7

    12. XM_047448959.1 → XP_047304915.1  zinc finger protein 385D isoform X10

      UniProtKB/TrEMBL
      A0A994J524
      Related
      ENSP00000516219.1, ENST00000706134.1

    13. XM_017007200.3 → XP_016862689.1  zinc finger protein 385D isoform X13

      Conserved Domains (2) summary
      sd00020
      Location:170 → 192
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:232 → 255
      zf-met; Zinc-finger of C2H2 type

    14. XM_017007201.2 → XP_016862690.1  zinc finger protein 385D isoform X14

      Conserved Domains (2) summary
      sd00020
      Location:112 → 134
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:174 → 197
      zf-met; Zinc-finger of C2H2 type

    15. XM_017007202.2 → XP_016862691.1  zinc finger protein 385D isoform X16

      Conserved Domains (2) summary
      sd00020
      Location:73 → 95
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:135 → 158
      zf-met; Zinc-finger of C2H2 type

    16. XM_011534122.3 → XP_011532424.1  zinc finger protein 385D isoform X15

      See identical proteins and their annotated locations for XP_011532424.1

      Conserved Domains (2) summary
      sd00020
      Location:183 → 205
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:70 → 92
      zf-met; Zinc-finger of C2H2 type

    17. XM_011534124.4 → XP_011532426.1  zinc finger protein 385D isoform X15

      See identical proteins and their annotated locations for XP_011532426.1

      Conserved Domains (2) summary
      sd00020
      Location:183 → 205
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:70 → 92
      zf-met; Zinc-finger of C2H2 type

    18. XM_017007203.2 → XP_016862692.1  zinc finger protein 385D isoform X17

    19. XM_011534123.3 → XP_011532425.1  zinc finger protein 385D isoform X15

      See identical proteins and their annotated locations for XP_011532425.1

      Conserved Domains (2) summary
      sd00020
      Location:183 → 205
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:70 → 92
      zf-met; Zinc-finger of C2H2 type

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      21422674..21761443 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6B1.1 GenPept UniProtKB/Swiss-Prot:Q9H6B1

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