IGSF21 (immunoglobin superfamily member 21)

Gene

• Entrez ID: 84966
• Gene name: Immunoglobin superfamily member 21
• Gene symbol: IGSF21
• Synonyms (NCBI Gene): -
• Chromosome: 1
• Chromosome location: 1p36.13
• Summary: This gene encodes a protein which has two immunoglobulin (Ig) domains 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019159	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	ISS
GO:0016020	Component	Membrane	IEA
GO:0030054	Component	Cell junction	IBA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0060074	Process	Synapse maturation	IEA
GO:0060074	Process	Synapse maturation	ISS
GO:0060077	Component	Inhibitory synapse	IEA
GO:0060077	Component	Inhibitory synapse	ISS
GO:0098552	Component	Side of membrane	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0099550	Process	Trans-synaptic signaling, modulating synaptic transmission	IBA
GO:0099550	Process	Trans-synaptic signaling, modulating synaptic transmission	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q96ID5
• Protein name: Immunoglobulin superfamily member 21 (IgSF21)
• Protein function: Involved in synaptic inhibition in the brain. Selectively regulates inhibitory presynaptic differentiation through interacting with presynaptic NRXN2.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	31 → 134	Immunoglobulin V-set domain	Domain

• Sequence:

  MRTAPSLRRCVCLLLAAILDLARGYLTVNIEPLPPVVAGDAVTLKCNFKTDGRMREIVWY
  RVTDGGTIKQKIFTFDAMFSTNYSHMENYRKREDLVYQSTVRLPEVRISDNGPYECHVGI
  YDRATREKVVLASGNIFLNVMAPPTSIEVVAADTPAPFSRYQAQNFTLVCIVSGGKPAPM
  VYFKRDGEPIDAVPLSEPPAASSGPLQDSRPFRSLLHRDLDDTKMQKSLSLLDAENRGGR
  PYTERPSRGLTPDPNILLQPTTENIPETVVSREFPRWVHSAEPTYFLRHSRTPSSDGTVE
  VRALLTWTLNPQIDNEALFSCEVKHPALSMPMQAEVTLVAPKGPKIVMTPSRARVGDTVR
  ILVHGFQNEVFPEPMFTWTRVGSRLLDGSAEFDGKELVLERVPAELNGSMYRCTAQNPLG
  STDTHTRLIVFENPNIPRGTEDSNGSIGPTGARLTLVLALTVILELT

• Sequence length: 467

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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	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
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bladder Neoplasm	Bladder Neoplasm	CTD_human_DG	26039340		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27607899		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	23209562	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	27607899		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	CTD_human_DG	26039340		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24784717		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	28470677		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23180869	Associate	★☆☆☆☆ Found in Text Mining only