IGHG1

other

immunoglobulin heavy constant gamma 1 (G1m marker), the group of Immunoglobulin heavy locus at 14q32.33

Gene summary

Enables Fc-gamma receptor I complex binding activity. Involved in antibody-dependent cellular cytotoxicity and complement-dependent cytotoxicity. Located in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

systemic lupus erythematosus

Max pathogenic AF

—

Genomic locus

chr14:105,736,343-105,743,071

External References & Databases

Ensembl (ENSG00000211896)

Transcript & Mutation Effects

hg38 • Region Span ~6.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

systemic lupus erythematosusSUPPORTIVE

Inheritance Pattern: Unknown

Disease ID:MONDO:0007915

Submitter: Orphanet

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to IGHG1 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
ENST00000390542.6	Ensembl	ENSP00000374984.2	5	Standard
ENST00000390548.6	Ensembl	ENSP00000374990.2	6	Standard
ENST00000390549.6	Ensembl	ENSP00000374991.2	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Interleukin-4 and 13 signaling
FCGR activation
Role of phospholipids in phagocytosis
Fcgamma receptor (FCGR) dependent phagocytosis
Innate Immune System

Biological Process

proteolysis
phagocytosis, recognition
phagocytosis, engulfment
complement activation
complement activation, classical pathway

Molecular Function

antigen binding
serine-type endopeptidase activity
protein binding
immunoglobulin receptor binding

Cellular Component

extracellular region
extracellular space
external side of plasma membrane
immunoglobulin complex, circulating
extracellular exosome

dbNSFP Gene Annotations

Source: dbNSFP

Function: 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 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:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170, ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}.;
Disease: DISEASE: Multiple myeloma (MM) [MIM:254500]: A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. {ECO:0000269|PubMed:11972529, ECO:0000269|PubMed:8943038}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving IGHG1 is found in multiple myeloma. Translocation t(11;14)(q13;q32) with the IgH locus. Translocation t(11;14)(q13;q32) with CCND1; translocation t(4;14)(p16.3;q32.3) with FGFR3; translocation t(6;14)(p25;q32) with IRF4.;

Essentials

Indispensability pred.: E
Indispensability score: 0.539