LIN7B (lin-7 cell polarity scaffold B)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64130
• Gene name: Lin-7 cell polarity scaffold B
• Gene symbol: LIN7B
• Synonyms (NCBI Gene): LIN-7B, MALS-2, MALS2, VELI2
• Chromosome: 19
• Chromosome location: 19q13.33

miRNA Show/Hide all (16)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020458	hsa-miR-106b-5p	Microarray	17242205
MIRT2261465	hsa-miR-106a	CLIP-seq
MIRT2261466	hsa-miR-106b	CLIP-seq
MIRT2261467	hsa-miR-1183	CLIP-seq
MIRT2261468	hsa-miR-17	CLIP-seq
MIRT2261469	hsa-miR-198	CLIP-seq
MIRT2261470	hsa-miR-200b	CLIP-seq
MIRT2261471	hsa-miR-200c	CLIP-seq
MIRT2261472	hsa-miR-20a	CLIP-seq
MIRT2261473	hsa-miR-20b	CLIP-seq
MIRT2261474	hsa-miR-429	CLIP-seq
MIRT2261475	hsa-miR-4693-3p	CLIP-seq
MIRT2261476	hsa-miR-4755-3p	CLIP-seq
MIRT2261477	hsa-miR-519d	CLIP-seq
MIRT2261478	hsa-miR-873	CLIP-seq
MIRT2261479	hsa-miR-93	CLIP-seq

Gene ontology (GO) Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IBA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0007269	Process	Neurotransmitter secretion	IBA
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0008582	Process	Regulation of synaptic assembly at neuromuscular junction	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0019904	Function	Protein domain specific binding	IPI	17237226
GO:0030674	Function	Protein-macromolecule adaptor activity	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048489	Process	Synaptic vesicle transport	IBA
GO:0070161	Component	Anchoring junction	IEA
GO:0097025	Component	MPP7-DLG1-LIN7 complex	IBA
GO:0098793	Component	Presynapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA

Other IDs

• MIM: 612331
• HGNC: 17788
• e!Ensembl: ENSG00000104863

Protein

• UniProt ID: Q9HAP6
• Protein name: Protein lin-7 homolog B (Lin-7B) (hLin7B) (Mammalian lin-seven protein 2) (MALS-2) (Vertebrate lin-7 homolog 2) (Veli-2) (hVeli2)
• Protein function: Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins t
• PDB: 2DKR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00595	PDZ	93 → 172	PDZ domain	Domain
  PF02828	L27	14 → 67	L27 domain	Domain

• Sequence:

  MAALVEPLGLERDVSRAVELLERLQRSGELPPQKLQALQRVLQSRFCSAIREVYEQLYDT
  LDITGSAEIRAHATAKATVAAFTASEGHAHPRVVELPKTDEGLGFNIMGGKEQNSPIYIS
  RVIPGGVADRHGGLKRGDQLLSVNGVSVEGEQHEKAVELLKAAQGSVKLVVRYTPRVLEE
  MEARFEKMRSARRRQQHQSYSSLESRG

• Sequence length: 207

Pathways

Reactome Pathway

Dopamine Neurotransmitter Release Cycle

RHO GTPases Activate Rhotekin and Rhophilins

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 Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIN7B-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	25196215		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33173439	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	20720508		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	25196215		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	25196215		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for LIN7B.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to LIN7B.