Aliases for GRAMD2B Gene

Aliases for GRAMD2B Gene

  • GRAM Domain Containing 2B 2 3 5
  • GRAM Domain-Containing Protein 2B 3 4
  • HCV NS3-Transactivated Protein 2 3 4
  • GRAM Domain Containing 3 2 3
  • GRAMD3 3 4
  • NS3TP2 3 4
  • Hepatitis C Virus Nonstructural Protein 3-Transactivating Protein 2 3
  • GRAM Domain-Containing Protein 3 3
  • HCV NS3 Transactivated Protein 2 2

External Ids for GRAMD2B Gene

Previous HGNC Symbols for GRAMD2B Gene

  • GRAMD3

Summaries for GRAMD2B Gene

GeneCards Summary for GRAMD2B Gene

GRAMD2B (GRAM Domain Containing 2B) is a Protein Coding gene. Diseases associated with GRAMD2B include Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant. An important paralog of this gene is GRAMD2A.

Additional gene information for GRAMD2B Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRAMD2B Gene

Genomics for GRAMD2B Gene

GeneHancer (GH) Regulatory Elements for GRAMD2B Gene

Promoters and enhancers for GRAMD2B 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
GH05J126422 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 511.2 +64.7 64704 4.8 ZNF217 ZFX POLR2A ZBTB26 CHD1 GATAD2B NFYB HDAC2 CTBP1 ZNF341 GRAMD2B ENSG00000250602 LOC101927514 NONHSAG041439.2
GH05J126357 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 508.1 -0.9 -917 3.6 SP1 ZBTB7A TRIM22 BCL11A NR2F2 TCF12 CBFB ARNT MEF2B FOSL1 GRAMD2B ENSG00000248752 lnc-ALDH7A1-7
GH05J126361 Enhancer 0.2 Ensembl 500.7 +1.5 1505 0.8 GRAMD2B ENSG00000248752
GH05J126518 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.9 +159.4 159428 2.9 EP300 CTBP1 TAF9B LEF1 NCOR1 ZNF282 ZNF316 NFIC ZBTB17 TRIM28 GRAMD2B ENSG00000250602 HSALNG0044654
GH05J126592 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.7 +234.1 234105 4 ZNF217 CTCF TCF12 MYC POLR2G PHF8 ZFX ZNF639 ZIC2 POLR2A ALDH7A1 lnc-MARCH3-5 ENSG00000230929 TEX43 ENSG00000250602 GRAMD2B piR-30791-079 RF00017-4853
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRAMD2B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRAMD2B

Genomic Locations for GRAMD2B Gene

Genomic Locations for GRAMD2B Gene
chr5:126,360,096-126,496,494
(GRCh38/hg38)
Size:
136,399 bases
Orientation:
Plus strand
chr5:125,695,788-125,832,186
(GRCh37/hg19)
Size:
136,399 bases
Orientation:
Plus strand

Genomic View for GRAMD2B Gene

Genes around GRAMD2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRAMD2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRAMD2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRAMD2B Gene

Proteins for GRAMD2B Gene

  • Protein details for GRAMD2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HH9-GRM2B_HUMAN
    Recommended name:
    GRAM domain-containing protein 2B
    Protein Accession:
    Q96HH9
    Secondary Accessions:
    • B7Z1F2
    • B7Z3R1
    • B7Z6D8
    • B7Z8T2
    • D3DSZ3
    • Q9H753

    Protein attributes for GRAMD2B Gene

    Size:
    432 amino acids
    Molecular mass:
    47869 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GRAMD2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRAMD2B Gene

Post-translational modifications for GRAMD2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GRAMD2B Gene

Domains & Families for GRAMD2B Gene

Gene Families for GRAMD2B Gene

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

Protein Domains for GRAMD2B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRAMD2B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50440, highly similar to GRAM domain-containing protein 3 (B7Z1F2_HUMAN)
  • cDNA FLJ51759, highly similar to GRAM domain-containing protein 3 (B7Z3R1_HUMAN)
  • cDNA FLJ50592, highly similar to GRAM domain-containing protein 3 (B7Z4W8_HUMAN)
  • cDNA, FLJ79187, highly similar to GRAM domain-containing protein 3 (B7Z6D8_HUMAN)
  • cDNA FLJ55291, highly similar to GRAM domain-containing protein 3 (B7Z8T2_HUMAN)
genes like me logo Genes that share domains with GRAMD2B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GRAMD2B Gene

Function for GRAMD2B Gene

Phenotypes From GWAS Catalog for GRAMD2B Gene

Gene Ontology (GO) - Molecular Function for GRAMD2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with GRAMD2B: view
genes like me logo Genes that share phenotypes with GRAMD2B: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GRAMD2B Gene

Localization for GRAMD2B 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 GRAMD2B gene
Compartment Confidence
cytoskeleton 5
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1
plasma membrane 0
extracellular 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GRAMD2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005881 cytoplasmic microtubule IDA 23264731
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GRAMD2B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GRAMD2B Gene

Pathways & Interactions for GRAMD2B Gene

PathCards logo

SuperPathways for GRAMD2B Gene

No Data Available

Gene Ontology (GO) - Biological Process for GRAMD2B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GRAMD2B Gene

Drugs & Compounds for GRAMD2B Gene

No Compound Related Data Available

Transcripts for GRAMD2B Gene

mRNA/cDNA for GRAMD2B Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRAMD2B Gene

No ASD Table

Relevant External Links for GRAMD2B Gene

GeneLoc Exon Structure for
GRAMD2B

Expression for GRAMD2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRAMD2B

Evidence on tissue expression from TISSUES for GRAMD2B Gene

  • Nervous system(4.8)
  • Intestine(4.3)
genes like me logo Genes that share expression patterns with GRAMD2B: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRAMD2B Gene

Orthologs for GRAMD2B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GRAMD2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRAMD3 31 30
  • 99.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GRAMD3 31 30
  • 89.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GRAMD3 31 30
  • 89.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gramd3 17 31 30
  • 85.73 (n)
rat
(Rattus norvegicus)
Mammalia Gramd3 30
  • 84.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GRAMD3 31
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRAMD3 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves GRAMD3 31 30
  • 64.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 61 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gramd3 30
  • 57.48 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100335008 30
  • 54.88 (n)
GRAMD3 31
  • 35 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6854 30
worm
(Caenorhabditis elegans)
Secernentea ZC328.3 31
  • 12 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 31
  • 7 (a)
ManyToMany
YSP2 31
  • 6 (a)
ManyToMany
Species where no ortholog for GRAMD2B was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • 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 GRAMD2B Gene

ENSEMBL:
Gene Tree for GRAMD2B (if available)
TreeFam:
Gene Tree for GRAMD2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRAMD2B: view image

Paralogs for GRAMD2B Gene

Paralogs for GRAMD2B Gene

genes like me logo Genes that share paralogs with GRAMD2B: view

Variants for GRAMD2B Gene

Additional dbSNP identifiers (rs#s) for GRAMD2B Gene

Structural Variations from Database of Genomic Variants (DGV) for GRAMD2B Gene

Variant ID Type Subtype PubMed ID
esv3310122 CNV mobile element insertion 20981092
esv3342460 CNV insertion 20981092
esv3390638 CNV insertion 20981092
esv3606677 CNV gain 21293372
esv3606678 CNV gain 21293372
esv3606679 CNV gain 21293372
esv3606680 CNV gain 21293372
nsv1016666 CNV loss 25217958
nsv4987 CNV insertion 18451855
nsv4989 CNV deletion 18451855
nsv830477 CNV gain 17160897

Variation tolerance for GRAMD2B Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRAMD2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRAMD2B

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 GRAMD2B Gene

Disorders for GRAMD2B Gene

MalaCards: The human disease database

(1) MalaCards diseases for GRAMD2B Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GRAMD2B

genes like me logo Genes that share disorders with GRAMD2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRAMD2B Gene

Publications for GRAMD2B Gene

  1. GRAM domain proteins specialize functionally distinct ER-PM contact sites in human cells. (PMID: 29469807) Besprozvannaya M … Nunnari J (eLife 2018) 2 3 54
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  3. 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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2. (PMID: 30639242) Kovalski JR … Khavari PA (Molecular cell 2019) 3 54

Products for GRAMD2B Gene

Sources for GRAMD2B Gene