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    ZNF44 zinc finger protein 44 [ Homo sapiens (human) ]

    Gene ID: 51710, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF44provided by HGNC
    Official Full Name
    zinc finger protein 44provided by HGNC
    Primary source
    HGNC:HGNC:13110
    See related
    Ensembl:ENSG00000197857 MIM:194542; AllianceGenome:HGNC:13110
    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
    Also known as
    ZNF; KOX7; ZNF55; ZNF58; GIOT-2; ZNF504
    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, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.6), kidney (RPKM 2.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19p13.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12224686..12294883, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12352931..12423209, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12382623..12405698, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ZNF625-ZNF20 readthrough (NMD candidate) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10145 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12267212-12267903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14046 Neighboring gene zinc finger protein 625 Neighboring gene zinc finger protein 136 Neighboring gene uncharacterized LOC100289333 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:12315316-12315484 Neighboring gene NANOG hESC enhancer GRCh37_chr19:12342780-12343609 Neighboring gene ribosomal protein L28 pseudogene 5 Neighboring gene MPRA-validated peak3363 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14048 Neighboring gene ribosomal protein S2 pseudogene 53 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14051 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12444503-12445368 Neighboring gene zinc finger protein 563 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14052 Neighboring gene zinc finger protein 442 Neighboring gene ribosomal protein S29 pseudogene 23

    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. RNA-Sequencing Combined With Genome-Wide Allele-Specific Expression Patterning Identifies ZNF44 Variants as a Potential New Driver Gene for Pediatric Neuroblastoma. Sun L, et al. Cancer Control, 2023 Jan-Dec. PMID 37161925, Free PMC Article
    2. Characterization and mapping of human genes encoding zinc finger proteins. Bray P, et al. Proc Natl Acad Sci U S A, 1991 Nov 1. PMID 1946370, Free PMC Article
    3. Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. Lichter P, et al. Genomics, 1992 Aug. PMID 1505991
    4. Ubiquitin-conjugating enzyme UBE2O regulates cellular clock function by promoting the degradation of the transcription factor BMAL1. Chen S, et al. J Biol Chem, 2018 Jul 20. PMID 29871923, Free PMC Article
    5. Multiple genes encoding zinc finger domains are expressed in human T cells. Thiesen HJ. New Biol, 1990 Apr. PMID 2288909

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RNA-Sequencing Combined With Genome-Wide Allele-Specific Expression Patterning Identifies ZNF44 Variants as a Potential New Driver Gene for Pediatric Neuroblastoma.
      Title: RNA-Sequencing Combined With Genome-Wide Allele-Specific Expression Patterning Identifies ZNF44 Variants as a Potential New Driver Gene for Pediatric Neuroblastoma.
    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)

    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

    • DKFZp434F1811, DKFZp686L21136

    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
    		  
    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 44
    Names
    gonadotropin inducible transcription repressor-2
    gonadotropin-inducible ovary transcription repressor 2
    zinc finger protein 55
    zinc finger protein 58
    zinc finger protein KOX7
    zinc finger protein ZnFP12

    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_001164276.2 → NP_001157748.1  zinc finger protein 44 isoform 1

      See identical proteins and their annotated locations for NP_001157748.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA525756, AK297528, BC001868, BE766488
      Consensus CDS
      CCDS54223.1
      UniProtKB/Swiss-Prot
      B4DML9, B9EGJ5, B9ZVM2, P15621, P17018, Q9ULZ7
      Related
      ENSP00000348419.5, ENST00000356109.10
      Conserved Domains (5) summary
      smart00349
      Location:52 → 88
      KRAB; krueppel associated box
      COG5048
      Location:244 → 655
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:582 → 602
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:52 → 88
      KRAB; KRAB box
      pfam13465
      Location:595 → 619
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001353549.2 → NP_001340478.1  zinc finger protein 44 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 4 and 5, encodes isoform 3.
      Source sequence(s)
      AC012618
      Conserved Domains (2) summary
      COG5048
      Location:164 → 575
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:502 → 522
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001353550.2 → NP_001340479.1  zinc finger protein 44 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 3 and 5, encodes isoform 3.
      Source sequence(s)
      AC012618
      Conserved Domains (2) summary
      COG5048
      Location:164 → 575
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:502 → 522
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_001353551.1 → NP_001340480.1  zinc finger protein 44 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 3 and 4, encodes isoform 3.
      Source sequence(s)
      AC012618
      Conserved Domains (2) summary
      COG5048
      Location:164 → 575
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:502 → 522
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. NM_001353552.2 → NP_001340481.1  zinc finger protein 44 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variant 7, encodes isoform 4.
      Source sequence(s)
      AC012618
      Conserved Domains (2) summary
      COG5048
      Location:84 → 495
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:422 → 442
      ZF_C2H2; C2H2 Zn finger [structural motif]

    6. NM_001353553.2 → NP_001340482.1  zinc finger protein 44 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variant 6, encodes isoform 4.
      Source sequence(s)
      AC012618
      Conserved Domains (2) summary
      COG5048
      Location:84 → 495
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:422 → 442
      ZF_C2H2; C2H2 Zn finger [structural motif]

    7. NM_016264.4 → NP_057348.3  zinc finger protein 44 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment near the N-terminus, compared to isoform 1.
      Source sequence(s)
      AA525756, AC012618, BC001868, DA815414
      Consensus CDS
      CCDS45988.1
      UniProtKB/TrEMBL
      F8W7T7
      Related
      ENSP00000347910.5, ENST00000355684.6
      Conserved Domains (5) summary
      smart00349
      Location:4 → 40
      KRAB; krueppel associated box
      COG5048
      Location:196 → 607
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:534 → 554
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 40
      KRAB; KRAB box
      pfam13465
      Location:547 → 571
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      12224686..12294883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438924.1 → XP_047294880.1  zinc finger protein 44 isoform X4

      Related
      ENSP00000380850.3, ENST00000397742.7

    2. XM_047438922.1 → XP_047294878.1  zinc finger protein 44 isoform X2

      Related
      ENSP00000377008.3, ENST00000393337.7

    3. XM_011528062.4 → XP_011526364.1  zinc finger protein 44 isoform X1

      Conserved Domains (5) summary
      smart00349
      Location:42 → 78
      KRAB; krueppel associated box
      COG5048
      Location:234 → 645
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:572 → 592
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:42 → 78
      KRAB; KRAB box
      pfam13465
      Location:585 → 609
      zf-H2C2_2; Zinc-finger double domain

    4. XM_011528066.3 → XP_011526368.1  zinc finger protein 44 isoform X5

      Conserved Domains (3) summary
      COG5048
      Location:152 → 563
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:490 → 510
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:503 → 527
      zf-H2C2_2; Zinc-finger double domain

    5. XM_047438923.1 → XP_047294879.1  zinc finger protein 44 isoform X3

    RNA

    1. XR_007066867.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      12352931..12423209 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321202.1 → XP_054177177.1  zinc finger protein 44 isoform X9

    2. XM_054321203.1 → XP_054177178.1  zinc finger protein 44 isoform X10

    3. XM_047446905.1 → XP_047302861.1  zinc finger protein 44 isoform X8

    4. XM_054321200.1 → XP_054177175.1  zinc finger protein 44 isoform X4

    5. XM_054321199.1 → XP_054177174.1  zinc finger protein 44 isoform X7

    6. XM_054321198.1 → XP_054177173.1  zinc finger protein 44 isoform X2

    7. XM_054321197.1 → XP_054177172.1  zinc finger protein 44 isoform X6

    8. XM_054321201.1 → XP_054177176.1  zinc finger protein 44 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15621.3 GenPept UniProtKB/Swiss-Prot:P15621

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