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

Gene ID: 151126, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in lung (RPKM 1.7), heart (RPKM 1.4) and 14 other tissues See more
Orthologs
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Genomic context

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Location:
2q31.2-q31.3
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (179441982..179861612, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (179925075..180344841, complement)
105.20220307 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)

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

  • 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_2023_10

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

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