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    ZNF627 zinc finger protein 627 [ Homo sapiens (human) ]

    Gene ID: 199692, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ZNF627provided by HGNC
    Official Full Name
    zinc finger protein 627provided by HGNC
    Primary source
    HGNC:HGNC:30570
    See related
    Ensembl:ENSG00000198551 MIM:612248; AllianceGenome:HGNC:30570
    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 factor activity, RNA polymerase II-specific and RNA polymerase II transcription 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, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.4), endometrium (RPKM 6.4) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF627 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11597483..11619161)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11725009..11747346)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11708298..11729976)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11687946-11688558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11688559-11689170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14027 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11692934-11693099 Neighboring gene acid phosphatase 5, tartrate resistant Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14028 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14029 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 76 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11708237-11709235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10124 Neighboring gene MPRA-validated peak3358 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11734453-11734953 Neighboring gene vomeronasal 2 receptor 12 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10125 Neighboring gene zinc finger protein 887, pseudogene

    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. [Isolation of novel expression sequences of C2H2 type zinc finger protein gene from human brain tissue according to the conservation of zinc finger motif]. Sun XY, et al. Shi Yan Sheng Wu Xue Bao, 1998 Dec. PMID 12016960
    2. The SNP rs4804611 in ZNF627 gene and the risk of myocardial infarction: a meta-analysis. Wu N, et al. Int J Clin Exp Med, 2015. PMID 26131132, Free PMC Article
    3. Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population. Yamada Y, et al. J Med Genet, 2008 Apr. PMID 18077766
    4. Associations with myocardial infarction of six polymorphisms selected from a three-stage genome-wide association study. Horne BD, et al. Am Heart J, 2007 Nov. PMID 17967605
    5. Variations of specific non-candidate genes and risk of myocardial infarction: a replication study. Koch W, et al. Int J Cardiol, 2011 Feb 17. PMID 19709766

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Variations of specific non-candidate genes and risk of myocardial infarction: a replication study.
    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

    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

    • FLJ90365

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription 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 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 627

    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_001290083.2 → NP_001277012.1  zinc finger protein 627 isoform 2

      See identical proteins and their annotated locations for NP_001277012.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC104527, AK074846, BC069232, DB158202
      UniProtKB/Swiss-Prot
      Q7L945
      Conserved Domains (3) summary
      COG5048
      Location:142 → 350
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:333 → 353
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:345 → 370
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001290084.3 → NP_001277013.1  zinc finger protein 627 isoform 3

      See identical proteins and their annotated locations for NP_001277013.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3 and 4 encode the same isoform (3).
      Source sequence(s)
      AK074846, AK095639, BC069232
      UniProtKB/Swiss-Prot
      Q7L945
      Conserved Domains (3) summary
      COG5048
      Location:64 → 272
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:255 → 275
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:267 → 292
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001290085.2 → NP_001277014.1  zinc finger protein 627 isoform 3

      See identical proteins and their annotated locations for NP_001277014.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3 and 4 encode the same isoform (3).
      Source sequence(s)
      AC104527, AK074846, BC069232, DA786363
      UniProtKB/Swiss-Prot
      Q7L945
      Conserved Domains (3) summary
      COG5048
      Location:64 → 272
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:255 → 275
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:267 → 292
      zf-H2C2_2; Zinc-finger double domain

    4. NM_145295.4 → NP_660338.1  zinc finger protein 627 isoform 1

      See identical proteins and their annotated locations for NP_660338.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC104527, AK074846, BC069232, BC098416
      Consensus CDS
      CCDS42502.1
      UniProtKB/Swiss-Prot
      O14846, Q4KMP9, Q6NT81, Q7L945, Q9BRG4
      Related
      ENSP00000354414.4, ENST00000361113.10
      Conserved Domains (5) summary
      smart00349
      Location:4 → 46
      KRAB; krueppel associated box
      COG5048
      Location:174 → 382
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:365 → 385
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:377 → 402
      zf-H2C2_2; Zinc-finger double domain

    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
      11597483..11619161
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438385.1 → XP_047294341.1  zinc finger protein 627 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11725009..11747346
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320152.1 → XP_054176127.1  zinc finger protein 627 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L945.1 GenPept UniProtKB/Swiss-Prot:Q7L945

    Gene LinkOut

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

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