IGLL1 (immunoglobulin lambda like polypeptide 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3543
Gene name Immunoglobulin lambda like polypeptide 1
Gene symbol IGLL1
Synonyms (NCBI Gene)
14.1AGM2CD179bIGL1IGL5IGLJ14.1IGLLIGOIGVPBVPREB2
Chromosome 22
Chromosome location 22q11.23
Summary 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.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
146770 5870 ENSG00000128322
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Gene ontology Other IDs Protein Pathways 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)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Agammaglobulinemia 2, autosomal recessive Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
GWAS catalog
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL AGAMMAGLOBULINEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL NON-SYNDROMIC AGAMMAGLOBULINEMIA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (38)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agammaglobulinemia Agammaglobulinemia GENOMICS_ENGLAND_DG 27576013
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 39549297 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE Agammaglobulinemia GENOMICS_ENGLAND_DG 27576013
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE Agammaglobulinemia UNIPROT_DG 9419212
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE Agammaglobulinemia CLINVAR_DG
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Agammaglobulinemia, non-Bruton type Agammaglobulinemia ORPHANET_DG 9419212
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 36982312 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only