Aliases for GGNBP2 Gene

Aliases for GGNBP2 Gene

  • Gametogenetin Binding Protein 2 2 3 5
  • LZK1 2 3 4
  • Laryngeal Carcinoma-Related Protein 1 3 4
  • Gametogenetin-Binding Protein 2 3 4
  • Zinc Finger Protein 403 2 3
  • ZFP403 2 3
  • ZNF403 3 4
  • DIF-3 2 3
  • LCRG1 3 4
  • DIF3 2 3
  • Laryngeal Carcinoma Related Gene 1 3
  • C3HC4-Type Zinc Finger Protein 3
  • Protein ZNF403 4
  • FLJ22561 2
  • FLJ21230 2
  • GGNBP2 5

External Ids for GGNBP2 Gene

Previous HGNC Symbols for GGNBP2 Gene

  • ZNF403

Previous GeneCards Identifiers for GGNBP2 Gene

  • GC17P031974
  • GC17P034900
  • GC17P030837

Summaries for GGNBP2 Gene

GeneCards Summary for GGNBP2 Gene

GGNBP2 (Gametogenetin Binding Protein 2) is a Protein Coding gene. Diseases associated with GGNBP2 include Chromosome 17Q12 Deletion Syndrome.

UniProtKB/Swiss-Prot Summary for GGNBP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GGNBP2 Gene

Genomics for GGNBP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GGNBP2 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
GH17J036543 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.1 1089 5.6 CHD2 TBP ZBTB10 BCL11A SP1 CEBPA SIX5 IKZF1 BRCA1 SMAD5 GGNBP2 lnc-MYO19-1 ZNHIT3 MYO19 DHRS11 HE856173 HSALNG0116040 lnc-GGNBP2-1
GH17J036102 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 2.3 -438.9 -438907 6.2 TRIM22 ZNF341 EBF1 SPI1 BHLHE40 POLR2A ZNF189 ZNF24 ELF1 IKZF1 CCL4 CCL3 CCL3L3 CCL5 CCL18 CCL15 PIGW SLFN12L MYO19 GGNBP2
GH17J036148 Enhancer 1.3 FANTOM5 Ensembl ENCODE 1.9 -395.7 -395712 2 ZBTB10 DEK CTCF ZIC2 THAP11 CEBPB REST IRF4 SMAD4 TRIM22 HSALNG0116006 LOC101927369 CCL4 CCL3 CCL3L3 PEX12 TBC1D3G CCL5 CCL23 LYZL6
GH17J036092 Enhancer 0.9 FANTOM5 ENCODE 1.8 -452.6 -452560 0.5 NFE2 BHLHE40 BATF MAFG ATF2 BACH1 IKZF1 ATF7 IKZF2 CREM piR-61945-203 CCL3 CCL3L3 CCL4 CCL18 CCL5 GGNBP2 lnc-CCL3-1 ENSG00000277089
GH17J036154 Enhancer 0.7 FANTOM5 Ensembl 1.5 -391.2 -391218 2.2 SMARCA5 NFE2 SCRT1 CTCF IKZF1 SPI1 IKZF2 CCL4 CCL3L3 CCL3 CCL4L2 CCL5 CCL23 GGNBP2 LOC101927369 ENSG00000282738 LOC100420851
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGNBP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GGNBP2

Top Transcription factor binding sites by QIAGEN in the GGNBP2 gene promoter:
  • AREB6
  • Elk-1
  • HOXA5
  • HTF
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Nkx2-5

Genomic Locations for GGNBP2 Gene

Latest Assembly
chr17:36,544,912-36,589,848
(GRCh38/hg38)
Size:
44,937 bases
Orientation:
Plus strand

Previous Assembly
chr17:34,900,768-34,946,278
(GRCh37/hg19 by Entrez Gene)
Size:
45,511 bases
Orientation:
Plus strand

Genomic View for GGNBP2 Gene

Genes around GGNBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGNBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGNBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGNBP2 Gene

Proteins for GGNBP2 Gene

  • Protein details for GGNBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3C7-GGNB2_HUMAN
    Recommended name:
    Gametogenetin-binding protein 2
    Protein Accession:
    Q9H3C7
    Secondary Accessions:
    • B2RPK7
    • Q96T90
    • Q9GZR8
    • Q9H767

    Protein attributes for GGNBP2 Gene

    Size:
    697 amino acids
    Molecular mass:
    79086 Da
    Quaternary structure:
    • Interacts with GGN.
    SequenceCaution:
    • Sequence=BAB15031.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB15397.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC18878.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Strongly down-regulated in 40% of primary laryngeal carcinoma and in 6 of 10 various cancer cell lines.

    Alternative splice isoforms for GGNBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GGNBP2 Gene

Post-translational modifications for GGNBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GGNBP2 Gene

Domains & Families for GGNBP2 Gene

Gene Families for GGNBP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GGNBP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GGNBP2 Gene

GenScript: Design optimal peptide antigens:
  • Protein ZNF403 (GGNB2_HUMAN)
genes like me logo Genes that share domains with GGNBP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GGNBP2 Gene

Function for GGNBP2 Gene

Molecular function for GGNBP2 Gene

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

Phenotypes From GWAS Catalog for GGNBP2 Gene

genes like me logo Genes that share phenotypes with GGNBP2: view

Animal Models for GGNBP2 Gene

MGI Knock Outs for GGNBP2:

Animal Models for research

  • Taconic Biosciences Mouse Models for GGNBP2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGNBP2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GGNBP2 Gene

Localization for GGNBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GGNBP2 Gene

Cytoplasmic vesicle. Note=Associated with vesicular structures. {ECO:0000250}.

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 GGNBP2 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GGNBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with GGNBP2: view

Pathways & Interactions for GGNBP2 Gene

PathCards logo

SuperPathways for GGNBP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GGNBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0008285 negative regulation of cell proliferation IEA --
GO:0010629 negative regulation of gene expression IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with GGNBP2: view

No data available for Pathways by source and SIGNOR curated interactions for GGNBP2 Gene

Drugs & Compounds for GGNBP2 Gene

No Compound Related Data Available

Transcripts for GGNBP2 Gene

mRNA/cDNA for GGNBP2 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GGNBP2

Alternative Splicing Database (ASD) splice patterns (SP) for GGNBP2 Gene

No ASD Table

Relevant External Links for GGNBP2 Gene

GeneLoc Exon Structure for
GGNBP2

Expression for GGNBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GGNBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GGNBP2 Gene

This gene is overexpressed in Testis (38.9) and Peripheral blood mononuclear cells (24.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GGNBP2 Gene



Protein tissue co-expression partners for GGNBP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GGNBP2

SOURCE GeneReport for Unigene cluster for GGNBP2 Gene:

Hs.514116

mRNA Expression by UniProt/SwissProt for GGNBP2 Gene:

Q9H3C7-GGNB2_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed more abundantly in heart, pancreas and skeletal muscle.

Evidence on tissue expression from TISSUES for GGNBP2 Gene

  • Intestine(4.3)
  • Nervous system(3.4)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with GGNBP2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGNBP2 Gene

Orthologs for GGNBP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GGNBP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GGNBP2 30
  • 99.86 (n)
Dog
(Canis familiaris)
Mammalia GGNBP2 30
  • 95.34 (n)
Cow
(Bos Taurus)
Mammalia GGNBP2 30
  • 95.16 (n)
Rat
(Rattus norvegicus)
Mammalia Ggnbp2 30
  • 93.73 (n)
Mouse
(Mus musculus)
Mammalia Ggnbp2 30 17
  • 92.91 (n)
Chicken
(Gallus gallus)
Aves GGNBP2 30
  • 85.54 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ggnbp2 30
  • 68.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15356 30
Zebrafish
(Danio rerio)
Actinopterygii ggnbp2 30
  • 66.89 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14063 30
Species where no ortholog for GGNBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GGNBP2 Gene

ENSEMBL:
Gene Tree for GGNBP2 (if available)
TreeFam:
Gene Tree for GGNBP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GGNBP2: view image

Paralogs for GGNBP2 Gene

No data available for Paralogs for GGNBP2 Gene

Variants for GGNBP2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GGNBP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GGNBP2 Gene

Variant ID Type Subtype PubMed ID
dgv3155n100 CNV gain 25217958
esv2758686 CNV gain+loss 17122850
esv2763162 CNV gain 21179565
esv3640471 CNV gain 21293372
esv3640472 CNV gain 21293372
esv3640474 CNV gain 21293372
nsv457734 CNV gain 19166990
nsv469760 CNV loss 16826518
nsv469853 CNV gain+loss 16826518
nsv471697 CNV gain 15918152
nsv476134 CNV novel sequence insertion 20440878
nsv516100 CNV gain+loss 19592680
nsv574909 CNV gain 21841781
nsv833428 CNV loss 17160897
nsv978416 CNV duplication 23825009

Variation tolerance for GGNBP2 Gene

Residual Variation Intolerance Score: 19.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GGNBP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGNBP2

SNP Genotyping and Copy Number Assays for research

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 GGNBP2 Gene

Disorders for GGNBP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GGNBP2 Gene - From: COP

Disorder Aliases PubMed IDs
chromosome 17q12 deletion syndrome
  • 17q12 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GGNBP2

genes like me logo Genes that share disorders with GGNBP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GGNBP2 Gene

Publications for GGNBP2 Gene

  1. Molecular cloning and characterization of LCRG1 a novel gene localized to the tumor suppressor locus D17S800-D17S930. (PMID: 15145523) Li Y … Chen Z (Cancer letters 2004) 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Dioxin induces a novel nuclear factor, DIF-3, that is implicated in spermatogenesis. (PMID: 11728448) Ohbayashi T … Mukai K (FEBS letters 2001) 2 3
  4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  5. Effects of gametogenetin-binding protein 2 on proliferation, invasion and migration of prostate cancer PC-3 cells. (PMID: 31797427) Yang Z … Ma L (Andrologia 2020) 3

Products for GGNBP2 Gene

Sources for GGNBP2 Gene