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] See more...

Aliases for ZNF630 Gene

Aliases for ZNF630 Gene

  • Zinc Finger Protein 630 2 3 4 5
  • DJ54B20.2 2 3
  • DJ54B20.2 (Novel KRAB Box Containing C2H2 Type Zinc Finger Protein) 3
  • MGC138344 2
  • BC037316 2
  • FLJ20573 2
  • ZNF630 5

External Ids for ZNF630 Gene

Previous GeneCards Identifiers for ZNF630 Gene

  • GC0XM046964
  • GC0XM047673
  • GC0XM047802
  • GC0XM047842
  • GC0XM045632

Summaries for ZNF630 Gene

Entrez Gene Summary for ZNF630 Gene

  • 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]

GeneCards Summary for ZNF630 Gene

ZNF630 (Zinc Finger Protein 630) is a Protein Coding gene. Diseases associated with ZNF630 include Atrial Septal Defect 9. Among its related pathways are Herpes simplex virus 1 infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA-binding transcription factor activity. An important paralog of this gene is ZNF268.

UniProtKB/Swiss-Prot Summary for ZNF630 Gene

Additional gene information for ZNF630 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ZNF630 Gene

Genomics for ZNF630 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ZNF630 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ048070 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 612.4 +0.1 96 1.9 SP1 CREB1 PRDM10 ZHX2 DDX20 PKNOX1 POLR2A REST IKZF2 PBX2 ZNF630 ENSG00000287757 SPACA5
GH0XJ048069 Promoter 0.3 EPDnew 600.7 +1.8 1775 0.1 ENSG00000287757 ZNF630 ZNF630-AS1 SPACA5
GH0XJ048538 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 12.1 -468.3 -468251 3.3 CREB1 ATF7 PRDM10 ZNF629 RFX1 BACH1 ZHX2 JUND GABPA ZIC2 TBC1D25 NONHSAG054422.2 ENSG00000204620 RBM3 LOC101927635 PORCN FTSJ1 RN7SL262P ZNF630 ENSG00000228343
GH0XJ047216 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +853.1 853054 5.2 SP1 CREB1 HNRNPL ATF7 ZNF629 PRDM10 REST SIX5 IKZF1 ZNF692 CDK16 LOC105373194 ENSG00000224072 ZNF182 LINC01560 ZNF674-AS1 ZNF81 RBM10 INE1 USP11
GH0XJ048002 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 +68.4 68357 3.4 CREB1 ATF7 PRDM10 ZNF629 ZNF692 POLR2A ZNF7 JUND FOXA1 PRDM1 ZNF182 SPACA5 ZNF630 ENSG00000228343 RF00017-8405 ZNF81
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ZNF630 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ZNF630

Genomic Locations for ZNF630 Gene

Genomic Locations for ZNF630 Gene
chrX:47,983,356-48,071,658
(GRCh38/hg38)
Size:
88,303 bases
Orientation:
Minus strand
chrX:47,842,756-47,931,025
(GRCh37/hg19)
Size:
88,270 bases
Orientation:
Minus strand

Genomic View for ZNF630 Gene

Genes around ZNF630 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZNF630 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZNF630 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZNF630 Gene

Proteins for ZNF630 Gene

  • Protein details for ZNF630 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M218-ZN630_HUMAN
    Recommended name:
    Zinc finger protein 630
    Protein Accession:
    Q2M218
    Secondary Accessions:
    • F8WAG4
    • Q5H8Z5

    Protein attributes for ZNF630 Gene

    Size:
    657 amino acids
    Molecular mass:
    76094 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ZNF630 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZNF630 Gene

Post-translational modifications for ZNF630 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZNF630 Gene

Domains & Families for ZNF630 Gene

Gene Families for ZNF630 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ZNF630 Gene

InterPro:
Blocks:
  • KRAB box
ProtoNet:

Suggested Antigen Peptide Sequences for ZNF630 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 630 (B2ZWG8_HUMAN)
  • Zinc finger protein 630 (B2ZWG9_HUMAN)
  • Zinc finger protein 630 (B2ZWH0_HUMAN)
  • Zinc finger protein 630 (ZN630_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M218

UniProtKB/Swiss-Prot:

ZN630_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with ZNF630: view

Function for ZNF630 Gene

Molecular function for ZNF630 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

Phenotypes From GWAS Catalog for ZNF630 Gene

Gene Ontology (GO) - Molecular Function for ZNF630 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZNF630: view

Phenotypes for ZNF630 Gene

GenomeRNAi human phenotypes for ZNF630:
genes like me logo Genes that share phenotypes with ZNF630: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF630

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ZNF630 Gene

Localization for ZNF630 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZNF630 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZNF630 gene
Compartment Confidence
nucleus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ZNF630 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with ZNF630: view

Pathways & Interactions for ZNF630 Gene

PathCards logo

SuperPathways for ZNF630 Gene

genes like me logo Genes that share pathways with ZNF630: view

Pathways by source for ZNF630 Gene

1 KEGG pathway for ZNF630 Gene

Interacting Proteins for ZNF630 Gene

Gene Ontology (GO) - Biological Process for ZNF630 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ZNF630: view

No data available for SIGNOR curated interactions for ZNF630 Gene

Drugs & Compounds for ZNF630 Gene

No Compound Related Data Available

Transcripts for ZNF630 Gene

mRNA/cDNA for ZNF630 Gene

4 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ZNF630

Alternative Splicing Database (ASD) splice patterns (SP) for ZNF630 Gene

No ASD Table

Relevant External Links for ZNF630 Gene

GeneLoc Exon Structure for
ZNF630

Expression for ZNF630 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZNF630 Gene

Protein differential expression in normal tissues from HIPED for ZNF630 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (50.3), NK cells (12.2), and Bone marrow mesenchymal stem cell (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ZNF630 Gene



Protein tissue co-expression partners for ZNF630 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ZNF630

SOURCE GeneReport for Unigene cluster for ZNF630 Gene:

Hs.650883

Evidence on tissue expression from TISSUES for ZNF630 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with ZNF630: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZNF630 Gene

Orthologs for ZNF630 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZNF630 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ZNF630 30
  • 98.93 (n)
Dog
(Canis familiaris)
Mammalia ZNF630 30
  • 86.42 (n)
-- 31
  • 41 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia -- 31
  • 44 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 38 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Gm13212 31
  • 37 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 35 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 35 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 44 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii si:dkey-111k8.2 31
  • 35 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
Species where no ortholog for ZNF630 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ZNF630 Gene

ENSEMBL:
Gene Tree for ZNF630 (if available)
TreeFam:
Gene Tree for ZNF630 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ZNF630: view image

Paralogs for ZNF630 Gene

Paralogs for ZNF630 Gene

(520) SIMAP similar genes for ZNF630 Gene using alignment to 5 proteins:

  • ZN630_HUMAN
  • B2ZWG8_HUMAN
  • B2ZWG9_HUMAN
  • B2ZWH0_HUMAN
  • F8WCH7_HUMAN

Pseudogenes.org Pseudogenes for ZNF630 Gene

genes like me logo Genes that share paralogs with ZNF630: view

Variants for ZNF630 Gene

Additional dbSNP identifiers (rs#s) for ZNF630 Gene

Structural Variations from Database of Genomic Variants (DGV) for ZNF630 Gene

Variant ID Type Subtype PubMed ID
dgv17n29 CNV gain+loss 16826518
dgv2286e212 CNV gain 25503493
dgv2287e212 CNV loss 25503493
dgv268e55 CNV loss 17911159
dgv37n14 CNV gain 18776910
esv25781 CNV gain 19812545
esv2752324 CNV gain 17911159
esv2758866 CNV gain+loss 17122850
esv32909 CNV gain+loss 17666407
esv3380999 CNV duplication 20981092
esv3389425 CNV duplication 20981092
esv3425662 CNV duplication 20981092
esv34308 CNV gain 17911159
esv34932 CNV gain 17911159
nsv438131 CNV loss 16468122
nsv442804 CNV gain+loss 18776908
nsv470351 CNV loss 18288195
nsv470352 CNV gain 18288195
nsv471601 CNV gain 15918152
nsv515199 CNV gain+loss 21397061
nsv517350 CNV gain+loss 19592680
nsv519165 CNV loss 19592680
nsv521227 CNV gain 19592680
nsv522886 CNV gain 19592680
nsv6890 CNV deletion 18451855
nsv818025 CNV gain+loss 17921354
nsv9940 CNV gain 18304495

Variation tolerance for ZNF630 Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZNF630 Gene

Human Gene Mutation Database (HGMD)
ZNF630
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZNF630

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ZNF630 Gene

Disorders for ZNF630 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ZNF630 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrial septal defect 9
  • asd9
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ZNF630

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ZNF630: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ZNF630 Gene

Publications for ZNF630 Gene

  1. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. (PMID: 20186789) Lugtenberg D … de Brouwer AP (American journal of medical genetics. Part A 2010) 3 41
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for ZNF630 Gene

Sources for ZNF630 Gene