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ZNF229 zinc finger protein 229 [ Homo sapiens (human) ]

Gene ID: 7772, updated on 2-Nov-2024

Summary

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Official Symbol
ZNF229provided by HGNC
Official Full Name
zinc finger protein 229provided by HGNC
Primary source
HGNC:HGNC:13022
See related
Ensembl:ENSG00000278318 MIM:620827; AllianceGenome:HGNC:13022
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
Summary
Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary (RPKM 2.9), thyroid (RPKM 2.7) and 24 other tissues See more
Orthologs
all
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Genomic context

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See ZNF229 in Genome Data Viewer
Location:
19q13.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44426254..44448578, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47249029..47271368, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44930426..44952766, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 112 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:44860641-44861141 Neighboring gene zinc finger protein 285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44905171-44905927 Neighboring gene MPRA-validated peak3499 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:44937098-44937334 Neighboring gene zinc finger protein 285B, pseudogene Neighboring gene MPRA-validated peak3500 silencer Neighboring gene zinc finger protein 180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45003842-45004342 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45004343-45004843

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 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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GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
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

  • FLJ34222

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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 229

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_001278510.3 → NP_001265439.2  zinc finger protein 229 isoform 2

    See identical proteins and their annotated locations for NP_001265439.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC245748, BM663713, CR936724
    Consensus CDS
    CCDS62706.1
    UniProtKB/TrEMBL
    A0A087WVZ7
    Related
    ENSP00000479807.1, ENST00000613197.4
    Conserved Domains (3) summary
    COG5048
    Location:369 → 781
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:373 → 393
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:33 → 74
    KRAB; KRAB box

  2. NM_014518.4 → NP_055333.3  zinc finger protein 229 isoform 1

    See identical proteins and their annotated locations for NP_055333.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC245748, AF192979, BM663713
    Consensus CDS
    CCDS42574.1
    UniProtKB/Swiss-Prot
    B2RWN3, Q59FV2, Q86WL9, Q9UJW7
    Related
    ENSP00000479884.1, ENST00000614049.5
    Conserved Domains (5) summary
    smart00349
    Location:34 → 74
    KRAB; krueppel associated box
    COG5048
    Location:375 → 787
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:379 → 399
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:34 → 73
    KRAB; KRAB box
    pfam13465
    Location:391 → 416
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_103551.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction at the 3' end of an exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB209357, AC245748, BM663713
    Related
    ENST00000620012.4

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    44426254..44448578 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527292.3 → XP_011525594.1  zinc finger protein 229 isoform X2

    See identical proteins and their annotated locations for XP_011525594.1

    UniProtKB/TrEMBL
    A0A087WVZ7
    Conserved Domains (3) summary
    COG5048
    Location:369 → 781
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:373 → 393
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:33 → 74
    KRAB; KRAB box

  2. XM_047439385.1 → XP_047295341.1  zinc finger protein 229 isoform X1

    UniProtKB/Swiss-Prot
    B2RWN3, Q59FV2, Q86WL9, Q9UJW7

  3. XM_006723372.5 → XP_006723435.1  zinc finger protein 229 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    47249029..47271368 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322051.1 → XP_054178026.1  zinc finger protein 229 isoform X2

    UniProtKB/TrEMBL
    A0A087WVZ7

  2. XM_054322050.1 → XP_054178025.1  zinc finger protein 229 isoform X1

    UniProtKB/Swiss-Prot
    B2RWN3, Q59FV2, Q86WL9, Q9UJW7

  3. XM_054322052.1 → XP_054178027.1  zinc finger protein 229 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UJW7.4 GenPept UniProtKB/Swiss-Prot:Q9UJW7

Gene LinkOut

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