IGHG2 (immunoglobulin heavy constant gamma 2 (G2m marker))

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Gene Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 3501
• Gene name: Immunoglobulin heavy constant gamma 2 (G2m marker)
• Gene symbol: IGHG2
• Synonyms (NCBI Gene): -
• Chromosome: 14
• Chromosome location: 14q32.33

Gene ontology (GO) Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002250	Process	Adaptive immune response	NAS	20176268
GO:0002376	Process	Immune system process	IEA
GO:0003823	Function	Antigen binding	IBA
GO:0005515	Function	Protein binding	IPI	16457820
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005615	Component	Extracellular space	IDA	25645918
GO:0005615	Component	Extracellular space	NAS	20176268
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	20176268
GO:0006958	Process	Complement activation, classical pathway	IBA
GO:0016020	Component	Membrane	IEA
GO:0019731	Process	Antibacterial humoral response	IBA
GO:0019814	Component	Immunoglobulin complex	IEA
GO:0034987	Function	Immunoglobulin receptor binding	IBA
GO:0042571	Component	Immunoglobulin complex, circulating	IBA
GO:0050853	Process	B cell receptor signaling pathway	NAS	20176268
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071735	Component	IgG immunoglobulin complex	NAS	20176268
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 147110
• HGNC: 5526
• e!Ensembl: ENSG00000211893

Protein

• UniProt ID: P01859
• Protein name: Immunoglobulin heavy constant gamma 2 (Ig gamma-2 chain C region) (Ig gamma-2 chain C region DOT) (Ig gamma-2 chain C region TIL) (Ig gamma-2 chain C region ZIE)
• Protein function: Constant region of immunoglobulin heavy chains. 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 s
• PDB: 2QSC , 4HAF , 4HAG , 4L4J , 7LUS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07654	C1-set	227 → 311	Immunoglobulin C1-set domain	Domain
  PF07654	C1-set	119 → 207	Immunoglobulin C1-set domain	Domain
  PF07654	C1-set	8 → 90	Immunoglobulin C1-set domain	Domain

• Sequence:

  ASTKGPSVFPLAPCSRSTSESTAALGCLVKDYFPEPVTVSWNSGALTSGVHTFPAVLQSS
  GLYSLSSVVTVPSSNFGTQTYTCNVDHKPSNTKVDKTVERKCCVECPPCPAPPVAGPSVF
  LFPPKPKDTLMISRTPEVTCVVVDVSHEDPEVQFNWYVDGVEVHNAKTKPREEQFNSTFR
  VVSVLTVVHQDWLNGKEYKCKVSNKGLPAPIEKTISKTKGQPREPQVYTLPPSREEMTKN
  QVSLTCLVKGFYPSDISVEWESNGQPENNYKTTPPMLDSDGSFFLYSKLTVDKSRWQQGN
  VFSCSVMHEALHNHYTQKSLSLSPGK

• Sequence length: 326

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Decreased circulating IgG2 concentration	Pathogenic	rs766666014	RCV000015931	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Associations from Text Mining Show/Hide Text Mining Associations (10)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	BEFREE	18213529, 9531163		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	37843500	Associate	★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	18213529, 9531163		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	CTD_human_DG	18821675		★☆☆☆☆ Found in Text Mining only
IgG Deficiency disorder	IgG Deficiency Disorder	ORPHANET_DG	9449702		★☆☆☆☆ Found in Text Mining only
Kappa-Chain Deficiency	Kappa-Chain Deficiency	ORPHANET_DG	9449702		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	CTD_human_DG	18821675		★☆☆☆☆ Found in Text Mining only
Myositis, Focal	Myositis	CTD_human_DG	18821675		★☆☆☆☆ Found in Text Mining only
Myositis, Proliferative	Myositis	CTD_human_DG	18821675		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	36155774	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for IGHG2.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to IGHG2.