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ZNF648 zinc finger protein 648 [ Homo sapiens (human) ]

Gene ID: 127665, updated on 29-Mar-2023

Summary

Official Symbol
ZNF648provided by HGNC
Official Full Name
zinc finger protein 648provided by HGNC
Primary source
HGNC:HGNC:18190
See related
Ensembl:ENSG00000179930 AllianceGenome:HGNC:18190
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
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See ZNF648 in Genome Data Viewer
Location:
1q25.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (182054570..182069646, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (181409936..181425377, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182023705..182030847, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5358 Neighboring gene uncharacterized LOC105371640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182025348-182025878 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:182070081-182070851 Neighboring gene uncharacterized LOC105371642

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

Description
Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

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_001009992.1NP_001009992.1  zinc finger protein 648

    See identical proteins and their annotated locations for NP_001009992.1

    Status: VALIDATED

    Source sequence(s)
    AL355482
    Consensus CDS
    CCDS30952.1
    UniProtKB/Swiss-Prot
    B2RP16, Q5T619
    Related
    ENSP00000344129.3, ENST00000339948.3
    Conserved Domains (3) summary
    COG5048
    Location:307494
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:281301
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:294317
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    182054570..182069646 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453260.2XP_024309028.1  zinc finger protein 648 isoform X1

    UniProtKB/Swiss-Prot
    B2RP16
    Conserved Domains (3) summary
    COG5048
    Location:307494
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:281301
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:294317
    zf-H2C2_2; Zinc-finger double domain
  2. XM_047445722.1XP_047301678.1  zinc finger protein 648 isoform X1

    UniProtKB/Swiss-Prot
    B2RP16

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    181409936..181425377 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334375.1XP_054190350.1  zinc finger protein 648 isoform X1

  2. XM_054334374.1XP_054190349.1  zinc finger protein 648 isoform X1