IGLL1 (immunoglobulin lambda like polypeptide 1)

2017-10-01  

Identity

HGNC
LOCATION
22q11.23
LOCUSID
ALIAS
14.1,AGM2,CD179b,IGL1,IGL5,IGLJ14.1,IGLL,IGO,IGVPB,VPREB2
FUSION GENES

Other Information

Locus ID:

NCBI: 3543
MIM: 146770
HGNC: 5870
Ensembl: ENSG00000128322

Variants:

dbSNP: 3543
ClinVar: 3543
TCGA: ENSG00000128322
COSMIC: IGLL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128322ENST00000249053P15814
ENSG00000128322ENST00000330377P15814
ENSG00000128322ENST00000438703C9JEE0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Primary immunodeficiencyKEGGko05340
Primary immunodeficiencyKEGGhsa05340
HemostasisREACTOMER-HSA-109582
Cell surface interactions at the vascular wallREACTOMER-HSA-202733

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
275760132016Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation.3
276118672016The Expression Pattern of the Pre-B Cell Receptor Components Correlates with Cellular Stage and Clinical Outcome in Acute Lymphoblastic Leukemia.18
275760132016Autosomal recessive agammaglobulinemia associated with an IGLL1 gene missense mutation.3
276118672016The Expression Pattern of the Pre-B Cell Receptor Components Correlates with Cellular Stage and Clinical Outcome in Acute Lymphoblastic Leukemia.18
231242032012Structural basis for galectin-1-dependent pre-B cell receptor (pre-BCR) activation.22
231242032012Structural basis for galectin-1-dependent pre-B cell receptor (pre-BCR) activation.22

Citation

Dessen P

IGLL1 (immunoglobulin lambda like polypeptide 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57093/css/lib/gene-explorer/