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ZNF630 zinc finger protein 630 [ Homo sapiens (human) ]

Gene ID: 57232, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF630provided by HGNC
Official Full Name
zinc finger protein 630provided by HGNC
Primary source
HGNC:HGNC:28855
See related
Ensembl:ENSG00000221994 MIM:300819; AllianceGenome:HGNC:28855
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
dJ54B20.2
Summary
This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in thyroid (RPKM 1.8), ovary (RPKM 1.5) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
Xp11.23
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48057516..48071640, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47467679..47481779, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47916905..47931007, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29600 Neighboring gene sperm acrosome associated 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20813 Neighboring gene ZNF630 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:47931149-47931345 Neighboring gene small nucleolar RNA U13 Neighboring gene SSX family member 6, 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
  • 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. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Lugtenberg D, et al. Am J Med Genet A, 2010 Mar. PMID 20186789
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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

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

General gene information

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Markers

Potential readthrough

Included gene: ZNF182

Homology

Clone Names

  • FLJ20573, FLJ97927, FLJ98691, MGC138344

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 cis-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 630
Names
dJ54B20.2 (novel KRAB box containing C2H2 type zinc finger protein)

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_022889.2 RefSeqGene

    Range
    4993..19117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001037735.4 → NP_001032824.2  zinc finger protein 630 isoform 1

    See identical proteins and their annotated locations for NP_001032824.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longest isoform (1). Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AC244636, AK000580, BC112139, BX116378, DA114160, DC353064
    Consensus CDS
    CCDS35237.2
    UniProtKB/Swiss-Prot
    F8WAG4, Q2M218, Q5H8Z5
    Related
    ENSP00000386393.3, ENST00000409324.7
    Conserved Domains (6) summary
    smart00349
    Location:8 → 68
    KRAB; krueppel associated box
    COG5048
    Location:329 → 578
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:405 → 425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:601 → 620
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:8 → 47
    KRAB; KRAB box
    pfam13465
    Location:502 → 526
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001190255.3 → NP_001177184.1  zinc finger protein 630 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC244636, AK000580, BC112139, BX116378, BX419623, DC319369
    UniProtKB/Swiss-Prot
    Q2M218
    Related
    ENSP00000480858.1, ENST00000616492.4
    Conserved Domains (6) summary
    smart00349
    Location:4 → 54
    KRAB; krueppel associated box
    COG5048
    Location:315 → 564
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:391 → 411
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:587 → 606
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:4 → 33
    KRAB; KRAB box
    pfam13465
    Location:488 → 512
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001282201.2 → NP_001269130.1  zinc finger protein 630 isoform 1

    See identical proteins and their annotated locations for NP_001269130.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AC244636
    Consensus CDS
    CCDS35237.2
    UniProtKB/Swiss-Prot
    F8WAG4, Q2M218, Q5H8Z5
    Related
    ENSP00000354683.4, ENST00000276054.9
    Conserved Domains (6) summary
    smart00349
    Location:8 → 68
    KRAB; krueppel associated box
    COG5048
    Location:329 → 578
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:405 → 425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:601 → 620
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:8 → 47
    KRAB; KRAB box
    pfam13465
    Location:502 → 526
    zf-H2C2_2; Zinc-finger double domain

  4. NM_001282202.3 → NP_001269131.1  zinc finger protein 630 isoform 3

    See identical proteins and their annotated locations for NP_001269131.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, uses an alternate splice site in the 3' terminal exon, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK000580, BC037316, BC112139, BX116378, DC319369
    UniProtKB/Swiss-Prot
    Q2M218
    UniProtKB/TrEMBL
    B2ZWH0
    Conserved Domains (3) summary
    COG5048
    Location:205 → 454
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:281 → 301
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:378 → 402
    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    48057516..48071640 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    47467679..47481779 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2M218.1 GenPept UniProtKB/Swiss-Prot:Q2M218

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