IGSF11 (immunoglobulin superfamily member 11)

Gene

• Entrez ID: 152404
• Gene name: Immunoglobulin superfamily member 11
• Gene symbol: IGSF11
• Synonyms (NCBI Gene): BT-IgSF, BTIGSF, CT119, CXADRL1, Igsf13, VSIG3
• Chromosome: 3
• Chromosome location: 3q13.32
• Summary: IGSF11 is an immunoglobulin (Ig) superfamily member that is preferentially expressed in brain and testis. It shares significant homology with coxsackievirus and adenovirus receptor (CXADR; MIM 602621) and endothelial cell-selective adhesion molecule (ESAM

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT617993	hsa-miR-3163	HITS-CLIP	19536157
MIRT617992	hsa-miR-340-5p	HITS-CLIP	19536157
MIRT617991	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT617990	hsa-miR-4668-5p	HITS-CLIP	19536157
MIRT617993	hsa-miR-3163	HITS-CLIP	23824327
MIRT617992	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT617991	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617990	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT617992	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT617991	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617990	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT617991	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617992	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT617990	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT617993	hsa-miR-3163	HITS-CLIP	23824327
MIRT617992	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT617991	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617990	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT617993	hsa-miR-3163	HITS-CLIP	19536157
MIRT617992	hsa-miR-340-5p	HITS-CLIP	19536157
MIRT617991	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT617990	hsa-miR-4668-5p	HITS-CLIP	19536157
MIRT617993	hsa-miR-3163	HITS-CLIP	23824327
MIRT617992	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT617991	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617990	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT617992	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT617991	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617990	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT617991	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617992	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT617990	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT617993	hsa-miR-3163	HITS-CLIP	23824327
MIRT617992	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT617991	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT617990	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT755582	hsa-miR-125a-5p	Western blotting, qRT-PCR, Immunoprecipitaion (IP), CLIP-seq, ChIP-seq, Flow cytometry, RNA pull down assay	37370798
MIRT755582	hsa-miR-125a-5p	CLIP-seq
MIRT1062472	hsa-miR-125b	CLIP-seq
MIRT1062473	hsa-miR-1913	CLIP-seq
MIRT1062474	hsa-miR-2110	CLIP-seq
MIRT1062475	hsa-miR-324-3p	CLIP-seq
MIRT1062476	hsa-miR-346	CLIP-seq
MIRT1062477	hsa-miR-4271	CLIP-seq
MIRT1062478	hsa-miR-4290	CLIP-seq
MIRT1062479	hsa-miR-4319	CLIP-seq
MIRT1062480	hsa-miR-4725-3p	CLIP-seq
MIRT1062481	hsa-miR-4732-3p	CLIP-seq
MIRT1062482	hsa-miR-491-5p	CLIP-seq
MIRT1062483	hsa-miR-541	CLIP-seq
MIRT1062484	hsa-miR-654-5p	CLIP-seq
MIRT1062485	hsa-miR-670	CLIP-seq
MIRT1062486	hsa-miR-9	CLIP-seq
MIRT1062487	hsa-miR-103a	CLIP-seq
MIRT1062488	hsa-miR-106a	CLIP-seq
MIRT1062489	hsa-miR-106b	CLIP-seq
MIRT1062490	hsa-miR-107	CLIP-seq
MIRT1062491	hsa-miR-1301	CLIP-seq
MIRT1062492	hsa-miR-142-5p	CLIP-seq
MIRT1062493	hsa-miR-17	CLIP-seq
MIRT1062494	hsa-miR-20a	CLIP-seq
MIRT1062495	hsa-miR-20b	CLIP-seq
MIRT1062496	hsa-miR-3609	CLIP-seq
MIRT1062497	hsa-miR-376c	CLIP-seq
MIRT1062498	hsa-miR-423-3p	CLIP-seq
MIRT1062499	hsa-miR-4714-3p	CLIP-seq
MIRT1062500	hsa-miR-4796-3p	CLIP-seq
MIRT1062501	hsa-miR-5047	CLIP-seq
MIRT1062502	hsa-miR-519d	CLIP-seq
MIRT1062503	hsa-miR-548ah	CLIP-seq
MIRT1062504	hsa-miR-646	CLIP-seq
MIRT1062505	hsa-miR-93	CLIP-seq
MIRT2014761	hsa-miR-4495	CLIP-seq
MIRT2247047	hsa-miR-1298	CLIP-seq
MIRT2247048	hsa-miR-23a	CLIP-seq
MIRT2247049	hsa-miR-23b	CLIP-seq
MIRT2247050	hsa-miR-23c	CLIP-seq
MIRT2247051	hsa-miR-548u	CLIP-seq
MIRT2247052	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26595655, 32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IBA
GO:0005911	Component	Cell-cell junction	IDA	26595655
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IMP	15795899
GO:0016020	Component	Membrane	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IPI	26595655
GO:0045202	Component	Synapse	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA
GO:0099537	Process	Trans-synaptic signaling	IEA
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	IEA
GO:1905606	Process	Regulation of presynapse assembly	IEA

Other IDs

• MIM: 608351
• HGNC: 16669
• e!Ensembl: ENSG00000144847

Protein

• UniProt ID: Q5DX21
• Protein name: Immunoglobulin superfamily member 11 (IgSF11) (Brain and testis-specific immunoglobulin superfamily protein) (Bt-IGSF) (V-set and immunoglobulin domain-containing protein 3)
• Protein function: Functions as a cell adhesion molecule through homophilic interaction. Stimulates cell growth.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	27 → 141	Immunoglobulin V-set domain	Domain
  PF13927	Ig_3	145 → 219		Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundantly expressed in testis and ovary and to a lower extent in brain, kidney and skeletal muscle. {ECO:0000269|PubMed:16108831}.
• Sequence:

  MTSQRSPLAPLLLLSLHGVAASLEVSESPGSIQVARGQPAVLPCTFTTSAALINLNVIWM
  VTPLSNANQPEQVILYQGGQMFDGAPRFHGRVGFTGTMPATNVSIFINNTQLSDTGTYQC
  LVNNLPDIGGRNIGVTGLTVLVPPSAPHCQIQGSQDIGSDVILLCSSEEGIPRPTYLWEK
  LDNTLKLPPTATQDQVQGTVTIRNISALSSGLYQCVASNAIGTSTCLLDLQVISPQPRNI
  GLIAGAIGTGAVIIIFCIALILGAFFYWRSKNKEEEEEEIPNEIREDDLPPKCSSAKAFH
  TEISSSDNNTLTSSNAYNSRYWSNNPKVHRNTESVSHFSDLGQSFSFHSGNANIPSIYAN
  GTHLVPGQHKTLVVTANRGSSPQVMSRSNGSVSRKPRPPHTHSYTISHATLERIGAVPVM
  VPAQSRAGSLV

• Sequence length: 431

Pathways

KEGG:

Cell adhesion molecules

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinogenesis	Carcinogenesis	Pubtator	19671168	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16108831		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12851705		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16108831, 28867483		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35922788	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12851705		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	16108831		★☆☆☆☆ Found in Text Mining only