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

Gene ID: 79698, updated on 3-Apr-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, Apr 2022]
Expression
Biased expression in thyroid (RPKM 4.9) and brain (RPKM 1.9) See more
Orthologs
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Genomic context

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Location:
8p11.21
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (40530590..40897826, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (40807525..41176451, complement)
105.20220307 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)

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

  • FLJ13842

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
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_2023_10

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

  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

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