IGSF23 (immunoglobulin superfamily member 23)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 147710
Gene name Immunoglobulin superfamily member 23
Gene symbol IGSF23
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.31
Summary This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by Re
miRNA miRNA information provided by mirtarbase database.
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT2247053 hsa-miR-183 CLIP-seq
MIRT2247054 hsa-miR-2392 CLIP-seq
MIRT2247055 hsa-miR-3649 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IDA 31560140
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
GO:0030316 Process Osteoclast differentiation IDA 31560140
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A1L1A6
Protein name Immunoglobulin superfamily member 23
Protein function May be involved in osteoclast differentiation.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in bone and small intestine (PubMed:31560140). Highly expressed in osteoclasts, and low expressed in osteoblasts and peripheral blood mononuclear cells (PBMCs) (PubMed:31560140). {ECO:0000269|PubMed:31560140}.
Sequence 
MRAKPQSPLPRNPVPAWSPPTTTTDPMLEKDAAGGDFPANLVLQLMPLKTFPAAIRGVIQ
SELNYSVILQWVVTMDPEPVLSWTFSGVPCGMGEKLFIRRLSCEQLGTYMCIATNSKKQL
VSEPVTISLPKPIMQPTEAEPMEPDPTLSLSGGSAIGLLAAGILGAGALIAGMCFIIIQS
LRTDRQRIGICS
Sequence length 192
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein 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 (2)
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
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 29777097, 30617256
★★★★★
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 31560140 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteopenia Osteopenia BEFREE 31560140
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteopetrosis Osteopetrosis BEFREE 31560140
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteopetrosis Osteopetrosis Pubtator 31560140 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis BEFREE 31560140
★★★★★
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis Pubtator 31560140 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only