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    ZMAT4 zinc finger matrin-type 4 [ Homo sapiens (human) ]

    Gene ID: 79698, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZMAT4provided by HGNC
    Official Full Name
    zinc finger matrin-type 4provided by HGNC
    Primary source
    HGNC:HGNC:25844
    See related
    Ensembl:ENSG00000165061 AllianceGenome:HGNC:25844
    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
    Enables identical protein binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in thyroid (RPKM 4.9) and brain (RPKM 1.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See ZMAT4 in Genome Data Viewer
    Location:
    8p11.21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (40530590..40897826, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (40807525..41176451, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (40388109..40755345, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr8:40194220-40194743 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:40206788-40207987 Neighboring gene uncharacterized LOC105379388 Neighboring gene SIRT1 regulating lncRNA tumor promoter Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:40404163-40404664 Neighboring gene uncharacterized LOC107986938 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:40591963-40593162 Neighboring gene NANOG hESC enhancer GRCh37_chr8:40660876-40661377 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:40691204-40691704 Neighboring gene uncharacterized LOC105379389 Neighboring gene uncharacterized LOC105379390

    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. The association between the copy-number variations of ZMAT4 and hematological malignancy. Wan J, et al. Hematology, 2011 Jan. PMID 21269563
    2. Association of VIPR2 and ZMAT4 with high myopia. Cheong KX, et al. Ophthalmic Genet, 2020 Feb. PMID 32166996
    3. Genome-wide association with diabetes-related traits in the Framingham Heart Study. Meigs JB, et al. BMC Med Genet, 2007 Sep 19. PMID 17903298, Free PMC Article
    4. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Verhoeven VJ, et al. Nat Genet, 2013 Mar. PMID 23396134, Free PMC Article
    5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article

    See all (19) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Genome-wide association with diabetes-related traits in the Framingham Heart Study.
    EBI GWAS Catalog
    Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
    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

    • FLJ13842

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger matrin-type protein 4

    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_001135731.2 → NP_001129203.1  zinc finger matrin-type protein 4 isoform b

      See identical proteins and their annotated locations for NP_001129203.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AC048387, AK023904, BC019598
      Consensus CDS
      CCDS47848.1
      UniProtKB/Swiss-Prot
      Q9H898
      Related
      ENSP00000319785.7, ENST00000315769.11
      Conserved Domains (3) summary
      smart00451
      Location:72 → 106
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:77 → 99
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam19088
      Location:122 → 153
      TUTase; TUTase nucleotidyltransferase domain

    2. NM_024645.3 → NP_078921.1  zinc finger matrin-type protein 4 isoform a

      See identical proteins and their annotated locations for NP_078921.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC048387, AK023904, BC019598
      Consensus CDS
      CCDS34885.1
      UniProtKB/Swiss-Prot
      Q8WUT8, Q9H898
      UniProtKB/TrEMBL
      E5RIF5
      Related
      ENSP00000297737.6, ENST00000297737.11
      Conserved Domains (3) summary
      smart00451
      Location:142 → 176
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:147 → 169
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:198 → 222
      zf-met; Zinc-finger of C2H2 type

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      40530590..40897826 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013836.3 → XP_016869325.1  zinc finger matrin-type protein 4 isoform X1

      UniProtKB/TrEMBL
      E5RIF5

    2. XM_047422236.1 → XP_047278192.1  zinc finger matrin-type protein 4 isoform X2

    3. XM_024447275.2 → XP_024303043.1  zinc finger matrin-type protein 4 isoform X2

      Conserved Domains (2) summary
      smart00451
      Location:96 → 130
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:31 → 53
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. XM_047422237.1 → XP_047278193.1  zinc finger matrin-type protein 4 isoform X2

    5. XM_017013840.2 → XP_016869329.1  zinc finger matrin-type protein 4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      40807525..41176451 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361234.1 → XP_054217209.1  zinc finger matrin-type protein 4 isoform X1

      UniProtKB/TrEMBL
      E5RIF5

    2. XM_054361235.1 → XP_054217210.1  zinc finger matrin-type protein 4 isoform X2

    3. XM_054361236.1 → XP_054217211.1  zinc finger matrin-type protein 4 isoform X2

    4. XM_054361237.1 → XP_054217212.1  zinc finger matrin-type protein 4 isoform X2

    5. XM_054361238.1 → XP_054217213.1  zinc finger matrin-type protein 4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H898.1 GenPept UniProtKB/Swiss-Prot:Q9H898

    Gene LinkOut

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

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