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    ZNF630 zinc finger protein 630 [ Homo sapiens (human) ]

    Gene ID: 57232, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF630provided by HGNC
    Official Full Name
    zinc finger protein 630provided by HGNC
    Primary source
    HGNC:HGNC:28855
    See related
    Ensembl:ENSG00000221994 MIM:300819; AllianceGenome:HGNC:28855
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    dJ54B20.2
    Summary
    This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.8), ovary (RPKM 1.5) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    Xp11.23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48057516..48071640, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47467679..47481779, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47916905..47931007, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29600 Neighboring gene sperm acrosome associated 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20813 Neighboring gene ZNF630 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:47931149-47931345 Neighboring gene small nucleolar RNA U13 Neighboring gene SSX family member 6, 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. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Lugtenberg D, et al. Am J Med Genet A, 2010 Mar. PMID 20186789
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    General gene information

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    Markers

    Potential readthrough

    Included gene: ZNF182

    Homology

    Clone Names

    • FLJ20573, FLJ97927, FLJ98691, MGC138344

    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 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
    		  
    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 630
    Names
    dJ54B20.2 (novel KRAB box containing C2H2 type zinc finger protein)

    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.

    Genomic

    1. NG_022889.2 RefSeqGene

      Range
      4993..19117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001037735.4 → NP_001032824.2  zinc finger protein 630 isoform 1

      See identical proteins and their annotated locations for NP_001032824.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (1). Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC244636, AK000580, BC112139, BX116378, DA114160, DC353064
      Consensus CDS
      CCDS35237.2
      UniProtKB/Swiss-Prot
      F8WAG4, Q2M218, Q5H8Z5
      Related
      ENSP00000386393.3, ENST00000409324.7
      Conserved Domains (6) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:329 → 578
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:601 → 620
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:502 → 526
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001190255.3 → NP_001177184.1  zinc finger protein 630 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC244636, AK000580, BC112139, BX116378, BX419623, DC319369
      UniProtKB/Swiss-Prot
      Q2M218
      Related
      ENSP00000480858.1, ENST00000616492.4
      Conserved Domains (6) summary
      smart00349
      Location:4 → 54
      KRAB; krueppel associated box
      COG5048
      Location:315 → 564
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:391 → 411
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:587 → 606
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 33
      KRAB; KRAB box
      pfam13465
      Location:488 → 512
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001282201.2 → NP_001269130.1  zinc finger protein 630 isoform 1

      See identical proteins and their annotated locations for NP_001269130.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC244636
      Consensus CDS
      CCDS35237.2
      UniProtKB/Swiss-Prot
      F8WAG4, Q2M218, Q5H8Z5
      Related
      ENSP00000354683.4, ENST00000276054.9
      Conserved Domains (6) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:329 → 578
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:405 → 425
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:601 → 620
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:502 → 526
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001282202.3 → NP_001269131.1  zinc finger protein 630 isoform 3

      See identical proteins and their annotated locations for NP_001269131.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, uses an alternate splice site in the 3' terminal exon, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AK000580, BC037316, BC112139, BX116378, DC319369
      UniProtKB/Swiss-Prot
      Q2M218
      UniProtKB/TrEMBL
      B2ZWH0
      Conserved Domains (3) summary
      COG5048
      Location:205 → 454
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:281 → 301
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:378 → 402
      zf-H2C2_2; Zinc-finger double domain

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      48057516..48071640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      47467679..47481779 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M218.1 GenPept UniProtKB/Swiss-Prot:Q2M218

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