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    ZNF385B zinc finger protein 385B [ Homo sapiens (human) ]

    Gene ID: 151126, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF385Bprovided by HGNC
    Official Full Name
    zinc finger protein 385Bprovided by HGNC
    Primary source
    HGNC:HGNC:26332
    See related
    Ensembl:ENSG00000144331 MIM:612344; AllianceGenome:HGNC:26332
    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
    ZNF533
    Summary
    Enables p53 binding activity. Involved in intrinsic apoptotic signaling pathway by p53 class mediator. Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung (RPKM 1.7), heart (RPKM 1.4) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF385B in Genome Data Viewer
    Location:
    2q31.2-q31.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (179441982..179861612, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (179925075..180344841, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (180306709..180726339, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56714 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56716 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56717 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56718 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56719 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56720 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56724 Neighboring gene SEC14 and spectrin domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:180060941-180061440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16820 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:180128689-180128852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12154 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:180133295-180133798 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:180132793-180133294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16821 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:180142211-180142711 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:180208678-180209877 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:180293959-180294459 Neighboring gene Sharpr-MPRA regulatory region 1228 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:180324663-180325862 Neighboring gene RAD52 pseudogene 1 Neighboring gene uncharacterized LOC101927073 Neighboring gene MPRA-validated peak3953 silencer Neighboring gene TXNL4A pseudogene 1 Neighboring gene microRNA 1258 Neighboring gene small nucleolar RNA SNORA43 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:180871172-180871704 Neighboring gene CWC22 spliceosome associated protein homolog

    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. Significant evidence of association between polymorphisms in ZNF533, environmental factors, and nonsyndromic orofacial clefts in the Western Han Chinese population. Wu J, et al. DNA Cell Biol, 2011 Jan. PMID 20849254
    2. Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population. Liang S, et al. J Zhejiang Univ Sci B, 2014 Mar. PMID 24599690, Free PMC Article
    3. ZNF385B and VEGFA are strongly differentially expressed in serous ovarian carcinomas and correlate with survival. Elgaaen BV, et al. PLoS One, 2012. PMID 23029477, Free PMC Article
    4. ZNF385B is characteristically expressed in germinal center B cells and involved in B-cell apoptosis. Iijima K, et al. Eur J Immunol, 2012 Dec. PMID 22945289
    5. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Maestrini E, et al. Mol Psychiatry, 2010 Sep. PMID 19401682, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The study found significant associations between autism and two SNPs of the ZNF533 gene.
      Title: Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population.
    2. ZNF385B and VEGFA are strongly differentially expressed in serous ovarian carcinomas and correlate with survival.
      Title: ZNF385B and VEGFA are strongly differentially expressed in serous ovarian carcinomas and correlate with survival.
    3. The direct binding of ZNF385B with p53 has suggested the involvement of ZNF385B in B-cell apoptosis via modulation of p53 transactivation
      Title: ZNF385B is characteristically expressed in germinal center B cells and involved in B-cell apoptosis.
    4. the relationship between ZNF533, environmental factors, and the etiology of nonsyndromic orofacial clefts
      Title: Significant evidence of association between polymorphisms in ZNF533, environmental factors, and nonsyndromic orofacial clefts in the Western Han Chinese population.
    5. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Significant evidence of association between polymorphisms in ZNF533, environmental factors, and nonsyndromic orofacial clefts in the Western Han Chinese population.
    6. 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.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.
    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
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25270

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in intrinsic apoptotic signaling pathway by p53 class mediator IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein 385B
    Names
    zinc finger protein 533

    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_001113397.2 → NP_001106868.1  zinc finger protein 385B isoform 2

      See identical proteins and their annotated locations for NP_001106868.1

      Status: VALIDATED

      Source sequence(s)
      AC062033, AK096822, BC033042, BC092423
      Consensus CDS
      CCDS46463.1
      UniProtKB/Swiss-Prot
      Q49A04, Q569K4, Q6ZMZ7, Q8IY01, Q8N8H2, Q96DK4
      Related
      ENSP00000386379.1, ENST00000409343.5
      Conserved Domains (2) summary
      sd00020
      Location:211 → 273
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:273 → 296
      zf-met; Zinc-finger of C2H2 type

    2. NM_001113398.3 → NP_001106869.1  zinc finger protein 385B isoform 3

      See identical proteins and their annotated locations for NP_001106869.1

      Status: VALIDATED

      Source sequence(s)
      AK057999, BC033042, BC092423
      Consensus CDS
      CCDS46464.1
      UniProtKB/Swiss-Prot
      Q569K4
      Related
      ENSP00000338225.5, ENST00000336917.9
      Conserved Domains (2) summary
      sd00020
      Location:185 → 247
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:246 → 270
      zf-met; Zinc-finger of C2H2 type

    3. NM_001282725.3 → NP_001269654.1  zinc finger protein 385B isoform 3

      See identical proteins and their annotated locations for NP_001269654.1

      Status: VALIDATED

      Source sequence(s)
      BC033042, BC038422, BC048123, BC092423
      Consensus CDS
      CCDS46464.1
      UniProtKB/Swiss-Prot
      Q569K4
      Related
      ENSP00000386507.1, ENST00000409692.5
      Conserved Domains (2) summary
      sd00020
      Location:185 → 247
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:246 → 270
      zf-met; Zinc-finger of C2H2 type

    4. NM_001352808.2 → NP_001339737.1  zinc finger protein 385B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC068042, AC092642, AC093604, BC092423
      Consensus CDS
      CCDS33339.2
      UniProtKB/Swiss-Prot
      Q49A04, Q569K4, Q6ZMZ7, Q8IY01, Q8N8H2, Q96DK4
      UniProtKB/TrEMBL
      A0A2U3TZT0
      Conserved Domains (3) summary
      smart00451
      Location:50 → 80
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:302 → 364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:363 → 387
      zf-met; Zinc-finger of C2H2 type

    5. NM_001352809.2 → NP_001339738.1  zinc finger protein 385B isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC062033, AC068042, AC092642, AC093604, BC092423
      UniProtKB/Swiss-Prot
      Q49A04, Q569K4, Q6ZMZ7, Q8IY01, Q8N8H2, Q96DK4
      Conserved Domains (3) summary
      smart00451
      Location:50 → 80
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:348 → 410
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:409 → 433
      zf-met; Zinc-finger of C2H2 type

    6. NM_001352810.2 → NP_001339739.1  zinc finger protein 385B isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC068042, AC092642, AC093604, BC092423
      UniProtKB/Swiss-Prot
      Q49A04, Q569K4, Q6ZMZ7, Q8IY01, Q8N8H2, Q96DK4
      Conserved Domains (3) summary
      smart00451
      Location:50 → 80
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:329 → 391
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:390 → 414
      zf-met; Zinc-finger of C2H2 type

    7. NM_001352811.2 → NP_001339740.1  zinc finger protein 385B isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC068042, AC092642, AC093604, BC092423
      UniProtKB/Swiss-Prot
      Q49A04, Q569K4, Q6ZMZ7, Q8IY01, Q8N8H2, Q96DK4
      Conserved Domains (3) summary
      smart00451
      Location:50 → 80
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:315 → 377
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:376 → 400
      zf-met; Zinc-finger of C2H2 type

    8. NM_001352812.2 → NP_001339741.1  zinc finger protein 385B isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC062033, AC068042, AC093604, BC092423
      UniProtKB/Swiss-Prot
      Q49A04, Q569K4, Q6ZMZ7, Q8IY01, Q8N8H2, Q96DK4
      Conserved Domains (2) summary
      sd00020
      Location:219 → 281
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:280 → 304
      zf-met; Zinc-finger of C2H2 type

    9. NM_001352813.2 → NP_001339742.1  zinc finger protein 385B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC062033, AC068042, AC093604, BC092423
      Consensus CDS
      CCDS46464.1
      Conserved Domains (2) summary
      sd00020
      Location:185 → 247
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:246 → 270
      zf-met; Zinc-finger of C2H2 type

    10. NM_001352814.2 → NP_001339743.1  zinc finger protein 385B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC062033, AC068042, AC093604, BC092423
      Consensus CDS
      CCDS46464.1
      Conserved Domains (2) summary
      sd00020
      Location:185 → 247
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:246 → 270
      zf-met; Zinc-finger of C2H2 type

    11. NM_001352815.1 → NP_001339744.1  zinc finger protein 385B isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC062033, AC068042, AC093604, BC092423
      Consensus CDS
      CCDS46464.1
      Conserved Domains (2) summary
      sd00020
      Location:185 → 247
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:246 → 270
      zf-met; Zinc-finger of C2H2 type

    12. NM_001352816.2 → NP_001339745.1  zinc finger protein 385B isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC068042, AC092642, BC092423
      Conserved Domains (2) summary
      sd00020
      Location:173 → 235
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:234 → 258
      zf-met; Zinc-finger of C2H2 type

    13. NM_001352817.1 → NP_001339746.1  zinc finger protein 385B isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC062033, AC068042, BC092423
      UniProtKB/TrEMBL
      Q53S82
      Conserved Domains (2) summary
      sd00020
      Location:155 → 217
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:216 → 240
      zf-met; Zinc-finger of C2H2 type

    14. NM_152520.6 → NP_689733.4  zinc finger protein 385B isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC068042, AC092642, AC093604, BC092423
      Consensus CDS
      CCDS33339.2
      UniProtKB/Swiss-Prot
      Q49A04, Q569K4, Q6ZMZ7, Q8IY01, Q8N8H2, Q96DK4
      UniProtKB/TrEMBL
      A0A2U3TZT0
      Related
      ENSP00000386845.2, ENST00000410066.7
      Conserved Domains (3) summary
      smart00451
      Location:50 → 80
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:302 → 364
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:363 → 387
      zf-met; Zinc-finger of C2H2 type

    RNA

    1. NR_104234.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC048123
      Related
      ENST00000466398.5

    2. NR_148054.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC068042, AC092642, AC093604, BC092423

    3. NR_148055.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC062033, AC068042, AC093604, BC092423

    4. NR_148056.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC068042, AC092642, AC093604, BC092423

    5. NR_148057.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC068042, AC092642, BC092423

    6. NR_148058.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC068042, AC092642, AC093604, BC092423

    7. NR_148059.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC062033, AC068042, BC092423

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      179441982..179861612 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      179925075..180344841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q569K4.1 GenPept UniProtKB/Swiss-Prot:Q569K4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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