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Aliases for ZNF630 Gene

Aliases for ZNF630 Gene

  • Zinc Finger Protein 630 2 3 5
  • DJ54B20.2 (Novel KRAB Box Containing C2H2 Type Zinc Finger Protein) 3
  • DJ54B20.2 3

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 mental retardation. 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. GO annotations related to this gene include nucleic acid binding and transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is ZNF248.

UniProtKB/Swiss-Prot for ZNF630 Gene

  • May be involved in transcriptional regulation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZNF630 Gene

Genomics for ZNF630 Gene

Regulatory Elements for ZNF630 Gene

Promoters for ZNF630 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ZNF630 on UCSC Golden Path with GeneCards custom track

Genomic Location for ZNF630 Gene

Chromosome:
X
Start:
47,983,356 bp from pter
End:
48,071,658 bp from pter
Size:
88,303 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

Proteomics data for ZNF630 Gene at MOPED

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

Protein Domains for ZNF630 Gene

Suggested Antigen Peptide Sequences for ZNF630 Gene

Graphical View of Domain Structure for InterPro Entry

Q2M218

UniProtKB/Swiss-Prot:

ZN630_HUMAN :
  • Contains 1 KRAB domain.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
  • Contains 14 C2H2-type zinc fingers.
Domain:
  • Contains 1 KRAB domain.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Similarity:
  • Contains 14 C2H2-type zinc fingers.
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.

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , 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
Jensen Localization Image for ZNF630 Gene COMPARTMENTS Subcellular localization image for ZNF630 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for ZNF630 Gene

Pathways & Interactions for ZNF630 Gene

SuperPathways for ZNF630 Gene

No Data Available

Interacting Proteins for ZNF630 Gene

Gene Ontology (GO) - Biological Process for ZNF630 Gene

None

No data available for Pathways by source and 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 :
(5) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ZNF630 Gene

Zinc finger protein 630:
Representative Sequences:

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

No ASD Table

Relevant External Links for ZNF630 Gene

GeneLoc Exon Structure for
ZNF630
ECgene alternative splicing isoforms for
ZNF630

Expression for ZNF630 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for ZNF630 Gene



SOURCE GeneReport for Unigene cluster for ZNF630 Gene Hs.650883

genes like me logo Genes that share expression patterns with ZNF630: view

Protein tissue co-expression partners for ZNF630 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
dog
(Canis familiaris)
Mammalia ZNF630 35
  • 86.42 (n)
  • 78.84 (a)
-- 36
  • 41 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia ZNF630 35
  • 98.93 (n)
  • 97.85 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 44 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 38 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gm13212 36
  • 37 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 35 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 44 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-111k8.2 36
  • 35 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
ManyToMany
-- 36
  • 39 (a)
ManyToMany
-- 36
  • 35 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
Species with no ortholog for ZNF630:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ZNF630 Gene

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

Pseudogenes.org Pseudogenes for ZNF630 Gene

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

Variants for ZNF630 Gene

Sequence variations from dbSNP and Humsavar for ZNF630 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs491034 -- 48,068,725(+) ATGAG(C/T)TGATG intron-variant
rs502100 -- 48,069,125(+) agtcc(C/T)ggcta intron-variant
rs517605 -- 48,068,099(-) ccttc(C/T)ctcct intron-variant
rs471559 -- 48,068,122(+) cagga(C/G)agaag intron-variant
rs573896 -- 48,069,431(+) CAACC(A/C)TAGCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2442e1 CNV Complex 17122850
dgv2443e1 CNV Complex 17122850
nsv6890 CNV Loss 18451855
dgv14n29 CNV Complex 16826518
nsv471601 CNV Gain 15918152
nsv522886 CNV Gain 19592680
dgv2444e1 CNV Complex 17122850
esv2752324 CNV Gain 17911159
esv25781 CNV Gain 19812545
esv32909 CNV Gain+Loss 17666407
dgv2445e1 CNV Complex 17122850
dgv37n14 CNV Gain 18776910
nsv442804 CNV CNV 18776908
nsv515199 CNV Complex 21397061
nsv438131 CNV Loss 16468122
nsv470351 CNV Loss 18288195
nsv470352 CNV Gain 18288195
nsv818025 CNV Gain+Loss 17921354
nsv517350 CNV Gain+Loss 19592680
nsv519165 CNV Loss 19592680
dgv268e55 CNV Loss 17911159
esv34932 CNV Gain 17911159
esv34308 CNV Gain 17911159
nsv9940 CNV Gain 18304495
nsv521227 CNV Gain 19592680

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)

Relevant External Links for ZNF630 Gene

HapMap Linkage Disequilibrium report
ZNF630

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZNF630 Gene

Disorders for ZNF630 Gene

Relevant External Links for ZNF630

Genetic Association Database (GAD)
ZNF630
Human Genome Epidemiology (HuGE) Navigator
ZNF630
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZNF630

No disorders were found for ZNF630 Gene.

No data available for MalaCards , 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 A.P. (Am. J. Med. Genet. A 2010) 3 48 67
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for ZNF630 Gene

Sources for ZNF630 Gene

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