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ZNF674 zinc finger protein 674 [ Homo sapiens (human) ]

Gene ID: 641339, updated on 2-Nov-2024

Summary

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Official Symbol
ZNF674provided by HGNC
Official Full Name
zinc finger protein 674provided by HGNC
Primary source
HGNC:HGNC:17625
See related
Ensembl:ENSG00000251192 MIM:300573; AllianceGenome:HGNC:17625
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRX92; ZNF673B
Summary
This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disabilities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in brain (RPKM 1.3), prostate (RPKM 1.3) and 25 other tissues See more
Orthologs
all
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Genomic context

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See ZNF674 in Genome Data Viewer
Location:
Xp11.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (46497725..46545421, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (45904681..45952389, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46357160..46404856, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 65 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:46306311-46306968 Neighboring gene KRAB box domain containing 4 Neighboring gene VEZT pseudogene 1 Neighboring gene U6 spliceosomal RNA Neighboring gene RNA, U6 small nuclear 50, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:46404230-46405429 Neighboring gene ZNF674 antisense RNA 1 (head to head) Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:46411040-46411938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29571 Neighboring gene marker of proliferation Ki-67 pseudogene 1

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. Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? Delphin N, et al. Eur J Hum Genet, 2012 Mar. PMID 22126752, Free PMC Article
  2. ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Lugtenberg D, et al. Am J Hum Genet, 2006 Feb. PMID 16385466, Free PMC Article
  3. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Piton A, et al. Am J Hum Genet, 2013 Aug 8. PMID 23871722, Free PMC Article
  4. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  5. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These findings question the responsibility of ZNF674 deletions in intellectual disability (ID) associated with X-linked retinal dystrophy.
    Title: Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
  2. Identification of ZNF674 as the third X-linked mental retardation gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning.
    Title: ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2023-03-28)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated 2023-03-28)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686H0940

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 674
Names
zinc finger family member 674

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.

Genomic

  1. NG_023376.2 RefSeqGene

    Range
    5037..52733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039891.3 → NP_001034980.1  zinc finger protein 674 isoform 1

    See identical proteins and their annotated locations for NP_001034980.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL031393, AW173662, AY971607, BQ417100
    Consensus CDS
    CCDS48099.1
    UniProtKB/Swiss-Prot
    B4DHE2, E9PHQ4, Q2M3X9
    Related
    ENSP00000429148.1, ENST00000523374.5
    Conserved Domains (6) summary
    smart00349
    Location:8 → 68
    KRAB; krueppel associated box
    COG5048
    Location:190 → 580
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:226 → 246
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:280 → 302
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:8 → 47
    KRAB; KRAB box
    pfam13465
    Location:399 → 423
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001146291.2 → NP_001139763.1  zinc finger protein 674 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses alternate in-frame donor and acceptor splice sites at two coding exons compared to variant 1, resulting in an isoform (2), which is 6 aa shorter than isoform 1.
    Source sequence(s)
    AL031393, AW173662, AY971607, BQ417100, DA195605
    Consensus CDS
    CCDS55406.1
    UniProtKB/Swiss-Prot
    Q2M3X9
    Related
    ENSP00000428248.1, ENST00000414387.6
    Conserved Domains (3) summary
    smart00349
    Location:8 → 68
    KRAB; krueppel associated box
    COG5048
    Location:184 → 574
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:220 → 240
    ZF_C2H2; C2H2 Zn finger [structural motif]

  3. NM_001190417.2 → NP_001177346.1  zinc finger protein 674 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site at a coding exon, compared to variant 1, resulting in an isoform (3), which is 5 aa shorter than isoform 1.
    Source sequence(s)
    AL031393, AW173662, AY971607, DC317540
    Consensus CDS
    CCDS94605.1
    UniProtKB/TrEMBL
    A0A804HHU7
    Related
    ENSP00000506769.1, ENST00000683375.1
    Conserved Domains (6) summary
    smart00349
    Location:8 → 68
    KRAB; krueppel associated box
    COG5048
    Location:185 → 575
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:221 → 241
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:275 → 297
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:8 → 47
    KRAB; KRAB box
    pfam13465
    Location:394 → 418
    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    46497725..46545421 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543943.4 → XP_011542245.1  zinc finger protein 674 isoform X1

    Conserved Domains (6) summary
    smart00349
    Location:8 → 68
    KRAB; krueppel associated box
    COG5048
    Location:189 → 579
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:225 → 245
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:279 → 301
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:8 → 47
    KRAB; KRAB box
    pfam13465
    Location:398 → 422
    zf-H2C2_2; Zinc-finger double domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    45904681..45952389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327571.1 → XP_054183546.1  zinc finger protein 674 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2M3X9.1 GenPept UniProtKB/Swiss-Prot:Q2M3X9

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