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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IGHG3 Gene

protein-coding   GIFtS: 44
GCID: GC14M106231

Immunoglobulin Heavy Constant Gamma 3 (G3m Marker)

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Immunoglobulin Heavy Constant Gamma 3 (G3m Marker)1 2
IgG32
HDC3
Heavy Chain Disease Protein3

External Ids:    HGNC: 55271   Entrez Gene: 35022   Ensembl: ENSG000002118977   OMIM: 1471205   UniProtKB: P018603   

Export aliases for IGHG3 gene to outside databases

Previous GC identifers: GC14M103270 GC14U900162 GC14M104203 GC14M104148 GC14M104151 GC14M105246 GC14M105303 GC14M105255 GC14M086364


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for IGHG3 Gene: 
IGHG3 (immunoglobulin heavy constant gamma 3 (G3m marker)) is a protein-coding gene. Diseases associated with IGHG3 include heavy chain disease, and gamma heavy chain disease, and among its related super-pathways are Classical antibody-mediated complement activation and Regulation of actin dynamics for phagocytic cup formation. GO annotations related to this gene include antigen binding. An important paralog of this gene is IGHG2.

Gene Wiki entry for IGHG3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for IGHG3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIGHG3 promoter sequence
   Search SABiosciences Chromatin IP Primers for IGHG3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IGHG3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.33   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.33

IGHG3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGHG3 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M106231:  view genomic region     (about GC identifiers)

Start:
106,232,251 bp from pter      End:
106,237,742 bp from pter
Size:
5,492 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IGHG3_HUMAN, P01860 (See protein sequence)
Recommended Name: Ig gamma-3 chain C region  
Size: 377 amino acids; 41287 Da
Subunit: Homodimer
Subcellular location: Secreted
Miscellaneous: The hinge region in gamma-3 chains is about four times as long as in other gamma chains and
contains three identical 15-residue segments preceded by a similar 17-residue segment (12-28)
Secondary accessions: A2NU35

Explore the universe of human proteins at neXtProt for IGHG3: NX_P01860

Explore proteomics data for IGHG3 at MOPED 

IGHG3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

IGHG3 Protein Expression

ENSEMBL proteins: 
 ENSP00000374993  
Reactome Protein details: P01860
Human Recombinant Protein Products for IGHG3: 
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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region TAS--
GO:0016020membrane NAS--

IGHG3 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
IGH: Immunoglobulins / IGH locus

4 InterPro protein domains:
 IPR013783 Ig-like_fold
 IPR003597 Ig_C1-set
 IPR007110 Ig-like_dom
 IPR003006 Ig/MHC_CS

Graphical View of Domain Structure for InterPro Entry P01860

ProtoNet protein and cluster: P01860

1 Blocks protein domain: IPB003597 Immunoglobulin C-type


IGHG3 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:
     Genatlas biochemistry entry for IGHG3:
immunoglobulin,gamma 3 (Gm marker)

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003823antigen binding IEA--
GO:0005515protein binding ----
     
IGHG3 for ontologies           About GeneDecksing


Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for IGHG3 About                                                                                                See pathways by source

SuperPathContained pathways About
1Classical antibody-mediated complement activation
Classical antibody-mediated complement activation0.88
Complement cascade0.76
Creation of C4 and C2 activators0.88
FCGR activation0.70
Initial triggering of complement0.86
Role of phospholipids in phagocytosis0.65
2Fcgamma receptor (FCGR) dependent phagocytosis
Regulation of actin dynamics for phagocytic cup formation0.80
Fcgamma receptor (FCGR) dependent phagocytosis0.80
3Immune System
Immune System0.56
Innate Immune System0.50
4Immune response Fc epsilon RI pathway
Immune response CD16 signaling in NK cells0.32
5IL4-mediated signaling events
IL4-mediated signaling events

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for IGHG3
    Immune response CD16 signaling in NK cells


1 GeneGo (Thomson Reuters) Pathway for IGHG3
    Immune response CD16 signaling in NK cells

1 BioSystems Pathway for IGHG3
    IL4-mediated signaling events

5/10        Reactome Pathways for IGHG3 (see all 10)
    FCGR activation
Fcgamma receptor (FCGR) dependent phagocytosis
Classical antibody-mediated complement activation
Regulation of actin dynamics for phagocytic cup formation
Creation of C4 and C2 activators



IGHG3 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IGHG3

1 Interacting protein for IGHG3 (P018602, 3) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
IKBKGQ9Y6K92, 3MINT-48135 I2D: score=2 
About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006955immune response NAS--
GO:0006956complement activation TAS--
GO:0006958complement activation, classical pathway TAS--
GO:0038096Fc-gamma receptor signaling pathway involved in phagocytosis TAS--
GO:0045087innate immune response TAS--

IGHG3 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IGHG3

Search CenterWatch for drugs/clinical trials and news about IGHG3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000390551(uc001ysh.1 uc001ysi.1)

miRNA
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Inhib. RNA
Products:
     
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Clone
Products:
     
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                     Customized lentivirus expression plasmids for stable overexpression of IGHG3 
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24/413 AceView cDNA sequences (see all 413):

CR592732 CR592950 CA425337 CR601777 BU726459 CR597050 BM987706 CA447627 
BU730880 CR619232 BU616272 CR606782 AI672856 CR603685 BU616028 CR609874 
CR598462 CR600209 CR595242 CR616804 CR605127 CR619687 CA427135 BG397823 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IGHG3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
IGHG3 Expression
About this image


See IGHG3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IGHG3
    SABiosciences Custom PCR Arrays for IGHG3
Primer
Products:
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Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IGHG3
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGHG3

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for IGHG3 gene from 2/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
25(a)
1 → many
GL343491.1(461752-525278)
zebrafish
(Danio rerio)
Actinopterygii ighm6
ighz6
immunoglobulin heavy constant zeta
14(a)
12(a)
many ↔ many
many ↔ many
3(34048543-34145441)
3(34079980-34083059)
        Species with no ortholog for IGHG3

ENSEMBL Gene Tree for IGHG3 (if available)
TreeFam Gene Tree for IGHG3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for IGHG3 gene
IGHG22  IGHE2  IGHA12  IGHM2  IGHG42  IGHG12  IGHA22  
18/21 SIMAP similar genes for IGHG3 using alignment to 1 protein entry:     IGHG3_HUMAN(see all similar genes):
DKFZp686I15212    FLJ00385    VHCH1    DKFZp686E23209    DKFZp686G11190    DKFZp686H20196
DKFZp686I04196    DKFZp686I15196    DKFZp686N02209    DKFZp686O01196    DKFZp686P15220    IGH@
IGHG1    DKFZp686C11235    DKFZp686C15213    DKFZp686K03196    DKFZp686M24218    IGHG2

IGHG3 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: IGHG3_HUMAN, P01860
Polymorphism: The IGHG3 gene shows a structural polymorphism characterized by different hinge lengths. Variant WIS
is lacking most of the V region and all of the CH1 region. It has an extra interchain disulfide bond at position
7 in addition to the 11 normally present in the hinge region. Variant ZUC lackS most of the V region, all of the
CH1 region, and part of the hinge. Variant OMM may represent an allelic form or another gamma chain subclass


10 SNPs in IGHG3 are shown    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 14 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0686994
----see VAR_0686992 D N mis40--------
VAR_0038904
----see VAR_0038902 V B mis40--------
VAR_0038914
----see VAR_0038912 P L mis40--------
VAR_0038944
----see VAR_0038942 S N mis40--------
VAR_0686974
----see VAR_0686972 E Q mis40--------
VAR_0038934
----see VAR_0038932 T A mis40--------
VAR_0038924
----see VAR_0038922 Y F mis40--------
VAR_0686984
----see VAR_0686982 E Q mis40--------
VAR_0038964
----see VAR_0038962 F Y mis40--------
VAR_0687004
----see VAR_0687002 N D mis40--------

HapMap Linkage Disequilibrium report for IGHG3 (106232251 - 106237742 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for IGHG3: --

Human Gene Mutation Database (HGMD): IGHG3
SABiosciences Cancer Mutation PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing IGHG3
DNA2.0 Custom Variant and Variant Library Synthesis for IGHG3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 147120    OMIM disorders: --

12 diseases for IGHG3:    About MalaCards
heavy chain disease    gamma heavy chain disease    relapsing-remitting multiple sclerosis    congenital hypogammaglobulinemia
bullous pemphigoid    hepatitis a    ulcerative colitis    multiple sclerosis
crohn's disease    asthma    alzheimer's disease    hepatitis


IGHG3 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
Genetic Association Database (GAD): IGHG3
Human Genome Epidemiology (HuGE) Navigator: IGHG3 (1 document)

Export disorders for IGHG3 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for IGHG3 gene, integrated from 9 sources (see all 26):
(articles sorted by number of sources associating them with IGHG3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Gamma heavy chain disease in man: cDNA sequence supports partial gene deletion model. (PubMed id 6808505)1, 2, 3 Alexander A.... Buxbaum J.N. (1982)
  2. Association between Gm allotypes and asthma severity from childhood to young middle age. (PubMed id 17933503)1, 4 Gustafsson P.M....Kjellman B. (2008)
  3. Sequence of a human immunoglobulin gamma 3 heavy chain constant region gene: comparison with the other human C gamma genes. (PubMed id 3081877)1, 2 Huck S.... Lefranc G. (1986)
  4. Primary structure of human gamma 3 immunoglobulin deletion mutant: gamma 3 heavy-chain disease protein Wis. (PubMed id 6774747)1, 2 Frangione B.... Franklin E.C. (1980)
  5. Primary structure of the 'hinge' region of human IgG3. Probable quadruplication of a 15-amino acid residue basic unit. (PubMed id 402363)1, 2 Michaelsen T.E.... Franklin E.C. (1977)
  6. The amino acid sequence of 'heavy chain disease' protein ZUC. Structure of the Fc fragment of immunoglobulin G3. (PubMed id 823945)1, 2 Wolfenstein-Todel C.... Franklin E.C. (1976)
  7. Genetic variants in the immunoglobulin heavy chain loc us are associated with the IgG index in multiple sclerosis. (PubMed id 23225573)1 Buck D....Hemmer B. (2013)
  8. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
  9. Immunoglobulin GM genes as functional risk and protec tive factors for the development of Alzheimer's disease. (PubMed id 19542624)1 Pandey J.P. (2009)
  10. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 3502 HGNC: 5527 AceView: IGHD_ Ensembl:ENSG00000211897 euGenes: HUgn3502
ECgene: IGHG3 H-InvDB: IGHG3

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for IGHG3 Pharmacogenomics, SNPs, Pathways
IMGT entry for IGHG3 The international ImMunoGeneTics information system® specializing in Immunoglobulins (IG), T cell receptors (TR), Major Histocompatibility Complex (MHC) and related proteins of the immune system (RPI) of human and other vertebrate species.
IMGT/GENE-DBhttp://www.imgt.org/IMGT_GENE-DB/GENElect?query=2+IGHG3&species=Homo+sapiens

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for IGHG3 gene:
Search GeneIP for patents involving IGHG3

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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