IGLL1 (immunoglobulin lambda like polypeptide 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3543
Gene name Gene Name - the full gene name approved by the HGNC.
Immunoglobulin lambda like polypeptide 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IGLL1
Synonyms (NCBI Gene) Gene synonyms aliases
14.1, AGM2, CD179b, IGL1, IGL5, IGLJ14.1, IGLL, IGO, IGVPB, VPREB2
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
The preB cell receptor is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locu
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs74315491 G>A Pathogenic Stop gained, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0003823 Function Antigen binding IBA
GO:0005515 Function Protein binding IPI 19273555, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
146770 5870 ENSG00000128322
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P15814
Protein name Immunoglobulin lambda-like polypeptide 1 (CD179 antigen-like family member B) (Ig lambda-5) (Immunoglobulin omega polypeptide) (Immunoglobulin-related protein 14.1) (CD antigen CD179b)
Protein function Critical for B-cell development.
PDB 2H32 , 2H3N , 2LKQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07654 C1-set 116 → 201 Immunoglobulin C1-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed only in pre-B-cells and a special B-cell line (which is surface Ig negative). {ECO:0000269|PubMed:2128466}.
Sequence 
MRPGTGQGGLEAPGEPGPNLRQRWPLLLLGLAVVTHGLLRPTAASQSRALGPGAPGGSSR
SSLRSRWGRFLLQRGSWTGPRCWPRGFQSKHNSVTHVFGSGTQLTVLSQPKATPSVTLFP
PSSEELQANKATLVCLMNDFYPGILTVTWKADGTPITQGVEMTTPSKQSNNKYAASSYLS
LTPEQWRSRRSYSCQVMHEGSTVEKTVAPAECS
Sequence length 213
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Primary immunodeficiency   Cell surface interactions at the vascular wall
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Agammaglobulinemia agammaglobulinemia 2, autosomal recessive, autosomal agammaglobulinemia N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (17)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 39549297
Agammaglobulinemia non Bruton type Associate 21039741
Amyotrophic Lateral Sclerosis Stimulate 36982312
Ataxia Telangiectasia Associate 9834238
Bruton type agammaglobulinemia Associate 39549297
Carcinoma Hepatocellular Associate 24278187
Carcinoma Squamous Cell Associate 33907270
Colorectal Neoplasms Associate 22970209
Leukemia Myeloid Acute Associate 37409118
Lymphoma B Cell Associate 14976526