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ZNF180 zinc finger protein 180 [ Homo sapiens (human) ]

Gene ID: 7733, updated on 3-Nov-2024

Summary

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Official Symbol
ZNF180provided by HGNC
Official Full Name
zinc finger protein 180provided by HGNC
Primary source
HGNC:HGNC:12970
See related
Ensembl:ENSG00000167384 MIM:606740; AllianceGenome:HGNC:12970
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
HHZ168
Summary
Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]
Expression
Ubiquitous expression in thyroid (RPKM 1.7), prostate (RPKM 1.7) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See ZNF180 in Genome Data Viewer
Location:
19q13.31
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44474431..44500522, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47300104..47326030, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44978648..45004574, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:44937098-44937334 Neighboring gene zinc finger protein 229 Neighboring gene zinc finger protein 285B, pseudogene Neighboring gene MPRA-validated peak3500 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45003842-45004342 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45004343-45004843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14763 Neighboring gene CEA cell adhesion molecule 20 Neighboring gene CEA cell adhesion molecule 22, 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 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. Identification of a locus of zinc finger genes in human chromosome 19q13.1-q13.3 region by fluorescence in situ hybridization. Wang R, et al. Somat Cell Mol Genet, 1996 May. PMID 8914611
  2. Genome-wide association scan for five major dimensions of personality. Terracciano A, et al. Mol Psychiatry, 2010 Jun. PMID 18957941, Free PMC Article
  3. Differential expansion of zinc-finger transcription factor loci in homologous human and mouse gene clusters. Shannon M, et al. Genome Res, 2003 Jun. PMID 12743021, Free PMC Article
  4. HENA, heterogeneous network-based data set for Alzheimer's disease. Sügis E, et al. Sci Data, 2019 Aug 14. PMID 31413325, Free PMC Article
  5. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824

See all (18) 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 scan for five major dimensions of personality.
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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Homology

Clone Names

  • AC069278.4

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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 180

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_001278508.4 → NP_001265437.2  zinc finger protein 180 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to variant 1.
    Source sequence(s)
    AC245748
    Consensus CDS
    CCDS62708.1
    UniProtKB/TrEMBL
    G5E9B8
    Related
    ENSP00000375818.3, ENST00000391956.8
    Conserved Domains (5) summary
    smart00349
    Location:47 → 108
    KRAB; krueppel associated box
    COG5048
    Location:307 → 667
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:330 → 350
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:47 → 86
    KRAB; KRAB box
    pfam13465
    Location:370 → 395
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001278509.3 → NP_001265438.2  zinc finger protein 180 isoform 3

    See identical proteins and their annotated locations for NP_001265438.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (3) with a shorter N-terminus, compared to isoform 1. Both variants 3 and 8 encode the same isoform.
    Source sequence(s)
    AC245748, AF192913, AK024047, DA947036
    Consensus CDS
    CCDS62707.1
    Related
    ENSP00000468021.1, ENST00000592529.6
    Conserved Domains (5) summary
    smart00349
    Location:45 → 106
    KRAB; krueppel associated box
    COG5048
    Location:305 → 665
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:328 → 348
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:45 → 84
    KRAB; KRAB box
    pfam13465
    Location:368 → 393
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001288759.4 → NP_001275688.2  zinc finger protein 180 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (4) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC245748
    UniProtKB/Swiss-Prot
    Q9UJW8
    Conserved Domains (5) summary
    smart00349
    Location:71 → 132
    KRAB; krueppel associated box
    COG5048
    Location:331 → 691
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:354 → 374
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:71 → 110
    KRAB; KRAB box
    pfam13465
    Location:394 → 419
    zf-H2C2_2; Zinc-finger double domain

  4. NM_001288760.3 → NP_001275689.1  zinc finger protein 180 isoform 5

    See identical proteins and their annotated locations for NP_001275689.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, contains alternate exons, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (5) with a shorter N-terminus, compared to isoform 1. Variants 5, 6, and 7 encode the same protein.
    Source sequence(s)
    AC245748, AF192913, BC051903, DA442282
    UniProtKB/Swiss-Prot
    Q9UJW8
    Conserved Domains (3) summary
    COG5048
    Location:3 → 349
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:12 → 32
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:52 → 77
    zf-H2C2_2; Zinc-finger double domain

  5. NM_001288761.3 → NP_001275690.1  zinc finger protein 180 isoform 5

    See identical proteins and their annotated locations for NP_001275690.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (5) with a shorter N-terminus, compared to isoform 1. Variants 5, 6, and 7 encode the same protein.
    Source sequence(s)
    AC245748, AF192913, AK024047, DA947036
    UniProtKB/Swiss-Prot
    Q9UJW8
    Conserved Domains (3) summary
    COG5048
    Location:3 → 349
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:12 → 32
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:52 → 77
    zf-H2C2_2; Zinc-finger double domain

  6. NM_001288762.3 → NP_001275691.1  zinc finger protein 180 isoform 5

    See identical proteins and their annotated locations for NP_001275691.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (5) with a shorter N-terminus, compared to isoform 1. Variants 5, 6, and 7 encode the same protein.
    Source sequence(s)
    AC245748, AF192913, DB223974
    UniProtKB/Swiss-Prot
    Q9UJW8
    Conserved Domains (3) summary
    COG5048
    Location:3 → 349
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:12 → 32
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:52 → 77
    zf-H2C2_2; Zinc-finger double domain

  7. NM_001291633.2 → NP_001278562.1  zinc finger protein 180 isoform 3

    See identical proteins and their annotated locations for NP_001278562.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (3) with a shorter N-terminus, compared to isoform 1. Both variants 3 and 8 encode the same isoform.
    Source sequence(s)
    AC245748, AF192913, AU132370, DA947036
    Consensus CDS
    CCDS62707.1
    Conserved Domains (5) summary
    smart00349
    Location:45 → 106
    KRAB; krueppel associated box
    COG5048
    Location:305 → 665
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:328 → 348
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:45 → 84
    KRAB; KRAB box
    pfam13465
    Location:368 → 393
    zf-H2C2_2; Zinc-finger double domain

  8. NM_013256.7 → NP_037388.3  zinc finger protein 180 isoform 1

    See identical proteins and their annotated locations for NP_037388.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC245748
    Consensus CDS
    CCDS12639.1
    UniProtKB/Swiss-Prot
    A0A0A0MP75, B2RCN6, B3KV56, K7EQX9, Q58F03, Q9P1U2, Q9UJW8
    Related
    ENSP00000221327.3, ENST00000221327.8
    Conserved Domains (5) summary
    smart00349
    Location:72 → 133
    KRAB; krueppel associated box
    COG5048
    Location:332 → 692
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:355 → 375
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:72 → 111
    KRAB; KRAB box
    pfam13465
    Location:395 → 420
    zf-H2C2_2; Zinc-finger double domain

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    44474431..44500522 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    47300104..47326030 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UJW8.3 GenPept UniProtKB/Swiss-Prot:Q9UJW8

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