Gene Gene information from NCBI Gene database.
Entrez ID 3476
Gene name Immunoglobulin binding protein 1
Gene symbol IGBP1
Synonyms (NCBI Gene)
ALPHA-4IBP1MRXS28alpha4
Chromosome X
Chromosome location Xq13.1
Summary The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex. Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR complex and leads to multiple signa
miRNA miRNA information provided by mirtarbase database.
146
miRTarBase ID miRNA Experiments Reference
MIRT529584 hsa-miR-34b-3p PAR-CLIP 20371350
MIRT529583 hsa-miR-8485 PAR-CLIP 20371350
MIRT529582 hsa-miR-329-3p PAR-CLIP 20371350
MIRT529581 hsa-miR-362-3p PAR-CLIP 20371350
MIRT529580 hsa-miR-603 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 17438131
GO:0005515 Function Protein binding IPI 9647778, 16085932, 16769727, 18186651, 18614045, 18715871, 18782753, 19156129, 21988832, 23892082, 24255178, 25277244, 26496610, 27880917, 28330616, 32296183, 32814053, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm NAS 9647778
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300139 5461 ENSG00000089289
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P78318
Protein name Immunoglobulin-binding protein 1 (B-cell signal transduction molecule alpha 4) (Protein alpha-4) (CD79a-binding protein 1) (Protein phosphatase 2/4/6 regulatory subunit) (Renal carcinoma antigen NY-REN-16)
Protein function Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiqu
PDB 4IYP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04177 TAP42 12 329 TAP42-like family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in heart, skeletal muscle and pancreas.
Sequence
Sequence length 339
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Autophagy - other
Autophagy - animal
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Pathogenic rs2147562704 RCV000012329
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, AGENESIS OF, WITH IMPAIRED INTELLECTUAL DEVELOPMENT, OCULAR COLOBOMA, AND MICROGNATHIA HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 28012229
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28012229
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Alport Syndrome Alport Syndrome BEFREE 14524583
★☆☆☆☆
Found in Text Mining only
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Nocturnal Epilepsy BEFREE 10563623, 10643924, 19237585
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 21339737
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Choanal Atresia Choanal Atresia HPO_DG
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma BEFREE 19655168
★☆☆☆☆
Found in Text Mining only
Coloboma of optic disc Coloboma of optic disc HPO_DG
★☆☆☆☆
Found in Text Mining only