GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] See more...

Aliases for GRAMD4 Gene

Aliases for GRAMD4 Gene

  • GRAM Domain Containing 4 2 3 5
  • GRAM Domain-Containing Protein 4 3 4
  • Death-Inducing-Protein 2 3
  • DIP 3 4
  • Death-Inducing Protein 4
  • KIAA0767 4

External Ids for GRAMD4 Gene

Previous GeneCards Identifiers for GRAMD4 Gene

  • GC22P045394
  • GC22P046971
  • GC22P029967

Summaries for GRAMD4 Gene

Entrez Gene Summary for GRAMD4 Gene

  • GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011]

GeneCards Summary for GRAMD4 Gene

GRAMD4 (GRAM Domain Containing 4) is a Protein Coding gene. Diseases associated with GRAMD4 include Lung Squamous Cell Carcinoma.

UniProtKB/Swiss-Prot Summary for GRAMD4 Gene

  • Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53 (PubMed:15565177). Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53. Inhibits TLR9 response to nucelic acids and regulates TLR9-mediated innate immune response (By similarity).

Additional gene information for GRAMD4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRAMD4 Gene

Genomics for GRAMD4 Gene

GeneHancer (GH) Regulatory Elements for GRAMD4 Gene

Promoters and enhancers for GRAMD4 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
GH22J046573 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 510.3 +2.3 2320 10.3 EP300 NRF1 POLR2G ZIC2 KDM6A ZBTB10 ZNF623 ZBTB26 CHD1 TGIF2 GRAMD4 ENSG00000234869 CERK AB372664-001 lnc-CDPF1-1 RF00017-3879
GH22J046670 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 513.8 +97.4 97355 4.9 ZIC2 KLF9 NFIC POLR2G ZFHX2 GLI4 SCRT1 NFIB POLR2A ZBTB33 GRAMD4 lnc-CDPF1-1 lnc-CERK-2 lnc-TBC1D22A-2 RF00017-3879
GH22J046619 Promoter/Enhancer 1.2 EPDnew ENCODE CraniofacialAtlas dbSUPER 510.9 +44.2 44163 1.7 FOXP2 RCOR1 POLR2A ZBTB33 PRDM4 CHD2 GATA2 PRDM10 ZNF692 GRAMD4 lnc-TBC1D22A-2 lnc-CDPF1-1 lnc-CERK-2 RF00017-3879
GH22J046627 Promoter/Enhancer 0.5 EPDnew dbSUPER 500.2 +50.7 50700 0.1 GRAMD4 lnc-TBC1D22A-2 lnc-CERK-2 lnc-CDPF1-1 RF00017-3879
GH22J046612 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.4 +37.5 37504 3 ZBTB40 ZBTB26 MXI1 ZSCAN9 POLR2A CBFB TFDP1 ZNF207 SAP130 ARNT GRAMD4 lnc-TBC1D22A-2 lnc-CDPF1-1 lnc-CERK-2 RF00017-3879
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRAMD4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRAMD4

Top Transcription factor binding sites by QIAGEN in the GRAMD4 gene promoter:
  • Evi-1
  • HNF-1
  • HNF-1A
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)

Genomic Locations for GRAMD4 Gene

Genomic Locations for GRAMD4 Gene
chr22:46,576,012-46,682,758
(GRCh38/hg38)
Size:
106,747 bases
Orientation:
Plus strand
chr22:46,971,909-47,075,688
(GRCh37/hg19)
Size:
103,780 bases
Orientation:
Plus strand

Genomic View for GRAMD4 Gene

Genes around GRAMD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRAMD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRAMD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRAMD4 Gene

Proteins for GRAMD4 Gene

  • Protein details for GRAMD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IC98-GRAM4_HUMAN
    Recommended name:
    GRAM domain-containing protein 4
    Protein Accession:
    Q6IC98
    Secondary Accessions:
    • A9IN51
    • A9IN57
    • Q68EN0
    • Q9UGE6
    • Q9Y4B9

    Protein attributes for GRAMD4 Gene

    Size:
    578 amino acids
    Molecular mass:
    66408 Da
    Quaternary structure:
    • Interacts with RTN4 (isoform B).
    SequenceCaution:
    • Sequence=BAA34487.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for GRAMD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRAMD4 Gene

Post-translational modifications for GRAMD4 Gene

  • Ubiquitination at Lys168
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GRAMD4 Gene

Domains & Families for GRAMD4 Gene

Gene Families for GRAMD4 Gene

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

Protein Domains for GRAMD4 Gene

Suggested Antigen Peptide Sequences for GRAMD4 Gene

GenScript: Design optimal peptide antigens:
  • Death-inducing protein (GRAM4_HUMAN)
genes like me logo Genes that share domains with GRAMD4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GRAMD4 Gene

Function for GRAMD4 Gene

Molecular function for GRAMD4 Gene

UniProtKB/Swiss-Prot Function:
Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53 (PubMed:15565177). Plays a role as a mediator of E2F1-induced apoptosis in the absence of p53/TP53. Inhibits TLR9 response to nucelic acids and regulates TLR9-mediated innate immune response (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated in the mitochondria by E2F1 after addition of 4-hydroxytamoxifen (at protein level).

Phenotypes From GWAS Catalog for GRAMD4 Gene

Gene Ontology (GO) - Molecular Function for GRAMD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with GRAMD4: view

Phenotypes for GRAMD4 Gene

genes like me logo Genes that share phenotypes with GRAMD4: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GRAMD4 Gene

Localization for GRAMD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRAMD4 Gene

Mitochondrion membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Colocalizes with COX4I1. {ECO:0000269 PubMed:15565177}.

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 GRAMD4 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
endoplasmic reticulum 3
nucleus 2
extracellular 1
cytoskeleton 1
cytosol 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for GRAMD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 15565177
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GRAMD4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRAMD4 Gene

Pathways & Interactions for GRAMD4 Gene

PathCards logo

SuperPathways for GRAMD4 Gene

No Data Available

Interacting Proteins for GRAMD4 Gene

;

Gene Ontology (GO) - Biological Process for GRAMD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0034164 negative regulation of toll-like receptor 9 signaling pathway ISS --
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP 15565177
genes like me logo Genes that share ontologies with GRAMD4: view

No data available for Pathways by source and SIGNOR curated interactions for GRAMD4 Gene

Drugs & Compounds for GRAMD4 Gene

No Compound Related Data Available

Transcripts for GRAMD4 Gene

mRNA/cDNA for GRAMD4 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRAMD4 Gene

No ASD Table

Relevant External Links for GRAMD4 Gene

GeneLoc Exon Structure for
GRAMD4

Expression for GRAMD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRAMD4 Gene

mRNA differential expression in normal tissues according to GTEx for GRAMD4 Gene

This gene is overexpressed in Liver (x10.3).

Protein differential expression in normal tissues from HIPED for GRAMD4 Gene

This gene is overexpressed in Fetal Brain (13.5), Heart (12.0), and Liver (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GRAMD4 Gene



Protein tissue co-expression partners for GRAMD4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRAMD4

SOURCE GeneReport for Unigene cluster for GRAMD4 Gene:

Hs.475150

mRNA Expression by UniProt/SwissProt for GRAMD4 Gene:

Q6IC98-GRAM4_HUMAN
Tissue specificity: Expressed in lung and in primary lung squamous cell carcinoma (LSCC).

Evidence on tissue expression from TISSUES for GRAMD4 Gene

  • Nervous system(4.3)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with GRAMD4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRAMD4 Gene

Orthologs for GRAMD4 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRAMD4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRAMD4 31 30
  • 91.7 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRAMD4 31
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRAMD4 31
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRAMD4 31
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRAMD4 31 30
  • 87.78 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gramd4 17 31 30
  • 85.99 (n)
rat
(Rattus norvegicus)
Mammalia Gramd4 30
  • 85.99 (n)
chicken
(Gallus gallus)
Aves GRAMD4 31 30
  • 77.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRAMD4 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gramd4 30
  • 72.4 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.31955 30
zebrafish
(Danio rerio)
Actinopterygii gramd4 31
  • 76 (a)
OneToMany
GRAMD4 (1 of 2) 31
  • 68 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y77E11A.12 31
  • 18 (a)
OneToOne
Species where no ortholog for GRAMD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)

Evolution for GRAMD4 Gene

ENSEMBL:
Gene Tree for GRAMD4 (if available)
TreeFam:
Gene Tree for GRAMD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRAMD4: view image

Paralogs for GRAMD4 Gene

No data available for Paralogs for GRAMD4 Gene

Variants for GRAMD4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRAMD4 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
731480 Benign: not provided 46,626,917(+) G/T MISSENSE_VARIANT
rs36211078 - p.Ser159Ile

Additional dbSNP identifiers (rs#s) for GRAMD4 Gene

Structural Variations from Database of Genomic Variants (DGV) for GRAMD4 Gene

Variant ID Type Subtype PubMed ID
dgv2469n106 OTHER inversion 24896259
dgv741e201 CNV deletion 23290073
esv1407556 CNV insertion 17803354
esv1433804 CNV insertion 17803354
esv1441208 CNV insertion 17803354
esv25117 CNV loss 19812545
esv2564691 CNV insertion 19546169
esv2724440 CNV deletion 23290073
esv2724441 CNV deletion 23290073
esv2724443 CNV deletion 23290073
esv2724444 CNV deletion 23290073
esv2724446 CNV deletion 23290073
esv2724447 CNV deletion 23290073
esv2724448 CNV deletion 23290073
esv2724449 CNV deletion 23290073
esv3558267 CNV deletion 23714750
esv6748 CNV gain 19470904
nsv1060721 CNV gain 25217958
nsv1152661 OTHER inversion 26484159
nsv472007 CNV novel sequence insertion 20440878
nsv589137 CNV gain 21841781
nsv820467 CNV deletion 20802225
nsv829281 CNV gain 20364138
nsv829293 CNV gain 20364138
nsv834227 CNV loss 17160897
nsv955179 CNV deletion 24416366

Variation tolerance for GRAMD4 Gene

Residual Variation Intolerance Score: 8.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRAMD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRAMD4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRAMD4 Gene

Disorders for GRAMD4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GRAMD4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lung squamous cell carcinoma
  • epidermoid cell carcinoma of the lung
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GRAMD4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GRAMD4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRAMD4 Gene

Publications for GRAMD4 Gene

  1. A novel mitochondrial protein DIP mediates E2F1-induced apoptosis independently of p53. (PMID: 15565177) Stanelle J … Pützer BM (Cell death and differentiation 2005) 2 3 4 23 54
  2. GRAMD4 mimics p53 and mediates the apoptotic function of p73 at mitochondria. (PMID: 21127500) John K … Pützer BM (Cell death and differentiation 2011) 2 3 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54
  5. Gene expression changes in response to E2F1 activation. (PMID: 11937641) Stanelle J … Pützer BM (Nucleic acids research 2002) 3 4 54

Products for GRAMD4 Gene

Sources for GRAMD4 Gene