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Aliases for IGHV3-48 Gene

Aliases for IGHV3-48 Gene

  • Immunoglobulin Heavy Variable 3-48 2 3 5
  • Ig Heavy Chain V-III Region WEA 3 4
  • Immunogloblin Heavy Chain Variable Region 3
  • IGHV348 3
  • VH 3

External Ids for IGHV3-48 Gene

Previous GeneCards Identifiers for IGHV3-48 Gene

  • GC14U990180
  • GC14M104965
  • GC14M106045
  • GC14M106064
  • GC14M106994
  • GC14M107014
  • GC14M107477
  • GC14M107669
  • GC14M106585
  • GC14M107051
  • GC14M107771
  • GC14M107864
  • GC14M107963
  • GC14M108085
  • GC14M108226
  • GC14M108370

Summaries for IGHV3-48 Gene

GeneCards Summary for IGHV3-48 Gene

IGHV3-48 (Immunoglobulin Heavy Variable 3-48) is a Protein Coding gene. An important paralog of this gene is IGHV3-21.

UniProtKB/Swiss-Prot for IGHV3-48 Gene

  • V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).

Additional gene information for IGHV3-48 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGHV3-48 Gene

Genomics for IGHV3-48 Gene

GeneHancer (GH) Regulatory Elements for IGHV3-48 Gene

Promoters and enhancers for IGHV3-48 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
GH14J106539 Enhancer 1.2 Ensembl ENCODE dbSUPER 650.7 -1.8 -1754 1.2 HDGF PKNOX1 RB1 YBX1 BATF ZNF2 RAD21 ZNF207 ZNF143 ATF7 IGHV3-48 IGHV4-39 IGHV3-53 GC14P106550 IGH
GH14J106538 Enhancer 0.5 ENCODE dbSUPER 650.7 -0.1 -65 0.8 CTCF IGHV3-48 IGHV4-39 GC14P106550 IGH
GH14J105688 Enhancer 1.1 ENCODE dbSUPER 4.8 +847.9 847895 3.5 HDGF ZNF493 NEUROD1 YBX1 ZBTB7B ZNF207 ZNF592 AEBP2 NBN ZNF8 MTA1 ENSG00000257270 CDCA4 ENSG00000225200 LINC00638 TMEM121 CLBA1 PACS2 AKT1 BRF1
GH14J106544 Enhancer 0.5 dbSUPER 0.4 -8.2 -8187 3.7 ZNF316 MAFF JUNB MAFG NFE2 EMSY MAFK IGHV4-39 IGHV3-66 IGHV3-53 IGHV3-33 GC14P106550 IGHV3-48 IGH
GH14J106535 Enhancer 0.2 dbSUPER 0.7 +2.5 2480 1.3 IGHV4-39 IGHV3-48 PIR53975 IGH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IGHV3-48 on UCSC Golden Path with GeneCards custom track

Genomic Locations for IGHV3-48 Gene

Genomic Locations for IGHV3-48 Gene
chr14:106,537,810-106,538,344
(GRCh38/hg38)
Size:
535 bases
Orientation:
Minus strand
chr14:106,993,812-106,994,346
(GRCh37/hg19)
Size:
535 bases
Orientation:
Minus strand

Genomic View for IGHV3-48 Gene

Genes around IGHV3-48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGHV3-48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGHV3-48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGHV3-48 Gene

Proteins for IGHV3-48 Gene

  • Protein details for IGHV3-48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01763-HV348_HUMAN
    Recommended name:
    Immunoglobulin heavy variable 3-48
    Protein Accession:
    P01763
    Secondary Accessions:
    • A0A0C4DH37

    Protein attributes for IGHV3-48 Gene

    Size:
    117 amino acids
    Molecular mass:
    12813 Da
    Quaternary structure:
    • Immunoglobulins are composed of two identical heavy chains and two identical light chains; disulfide-linked.

neXtProt entry for IGHV3-48 Gene

Post-translational modifications for IGHV3-48 Gene

Other Protein References for IGHV3-48 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for IGHV3-48 Gene

Domains & Families for IGHV3-48 Gene

Gene Families for IGHV3-48 Gene

Protein Domains for IGHV3-48 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IGHV3-48: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for IGHV3-48 Gene

Function for IGHV3-48 Gene

Molecular function for IGHV3-48 Gene

UniProtKB/Swiss-Prot Function:
V region of the variable domain of immunoglobulin heavy chains that participates in the antigen recognition (PubMed:24600447). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:20176268, PubMed:17576170).

Gene Ontology (GO) - Molecular Function for IGHV3-48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding NAS 6410398
GO:0004252 serine-type endopeptidase activity TAS --
genes like me logo Genes that share ontologies with IGHV3-48: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGHV3-48 Gene

Localization for IGHV3-48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGHV3-48 Gene

Secreted. Cell membrane.

Gene Ontology (GO) - Cellular Components for IGHV3-48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with IGHV3-48: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for IGHV3-48 Gene

Pathways & Interactions for IGHV3-48 Gene

SuperPathways for IGHV3-48 Gene

No Data Available

Interacting Proteins for IGHV3-48 Gene

Gene Ontology (GO) - Biological Process for IGHV3-48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0006955 immune response NAS 6410398
GO:0006956 complement activation TAS --
genes like me logo Genes that share ontologies with IGHV3-48: view

No data available for Pathways by source and SIGNOR curated interactions for IGHV3-48 Gene

Drugs & Compounds for IGHV3-48 Gene

No Compound Related Data Available

Transcripts for IGHV3-48 Gene

mRNA/cDNA for IGHV3-48 Gene

(437) Additional mRNA sequences :
(261) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IGHV3-48 Gene

Immunoglobulin heavy variable 3-48:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGHV3-48 Gene

No ASD Table

Relevant External Links for IGHV3-48 Gene

GeneLoc Exon Structure for
IGHV3-48
ECgene alternative splicing isoforms for
IGHV3-48

Expression for IGHV3-48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGHV3-48 Gene

mRNA differential expression in normal tissues according to GTEx for IGHV3-48 Gene

This gene is overexpressed in Spleen (x10.4), Colon - Transverse (x7.6), Whole Blood (x5.7), and Small Intestine - Terminal Ileum (x4.7).

Protein differential expression in normal tissues from HIPED for IGHV3-48 Gene

This gene is overexpressed in Saliva (35.4), Urine (13.2), and Skin (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IGHV3-48 Gene



Protein tissue co-expression partners for IGHV3-48 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for IGHV3-48 Gene:

Hs.703936
genes like me logo Genes that share expression patterns with IGHV3-48: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGHV3-48 Gene

Orthologs for IGHV3-48 Gene

This gene was present in the common ancestor of mammals.

Orthologs for IGHV3-48 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 34
  • 69 (a)
ManyToMany
Species where no ortholog for IGHV3-48 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IGHV3-48 Gene

ENSEMBL:
Gene Tree for IGHV3-48 (if available)
TreeFam:
Gene Tree for IGHV3-48 (if available)

Paralogs for IGHV3-48 Gene

Variants for IGHV3-48 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IGHV3-48 Gene

HV348_HUMAN-P01763
There are several alleles. The sequence shown is that of IMGT allele IGHV3-48*03.

Additional Variant Information for IGHV3-48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGHV3-48

No data available for Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGHV3-48 Gene

Disorders for IGHV3-48 Gene

Additional Disease Information for IGHV3-48

No disorders were found for IGHV3-48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for IGHV3-48 Gene

Publications for IGHV3-48 Gene

  1. Amino acid sequence of the Fv region of a human monoclonal IgM (protein WEA) with antibody activity against 3,4-pyruvylated galactose in Klebsiella polysaccharides K30 and K33. (PMID: 6410398) Goñi F … Frangione B (Proceedings of the National Academy of Sciences of the United States of America 1983) 3 4 58
  2. Immunoglobulin and T Cell Receptor Genes: IMGT(®) and the Birth and Rise of Immunoinformatics. (PMID: 24600447) Lefranc MP (Frontiers in immunology 2014) 4 58
  3. LGALS3BP regulates centriole biogenesis and centrosome hypertrophy in cancer cells. (PMID: 23443559) Fogeron ML … Lange BM (Nature communications 2013) 3 58
  4. Molecular programming of B cell memory. (PMID: 22158414) McHeyzer-Williams M … McHeyzer-Williams L (Nature reviews. Immunology 2011) 4 58
  5. Structure and function of immunoglobulins. (PMID: 20176268) Schroeder HW … Cavacini L (The Journal of allergy and clinical immunology 2010) 4 58

Products for IGHV3-48 Gene

Sources for IGHV3-48 Gene

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