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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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See ZNF44 in Genome Data Viewer
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

Gene LinkOut

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