IGSF23 (immunoglobulin superfamily member 23)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
147710
Gene name Gene Name - the full gene name approved by the HGNC.
Immunoglobulin superfamily member 23
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IGSF23
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein 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
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Associate 31560140
Osteopetrosis Associate 31560140
Osteoporosis Associate 31560140