TSPAN12 (tetraspanin 12)

Gene

• Entrez ID: 23554
• Gene name: Tetraspanin 12
• Gene symbol: TSPAN12
• Synonyms: EVR5, NET-2, NET2, TM4SF12
• Chromosome: 7
• Chromosome location: 7q31.31
• Summary: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs145449060	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200519776	A>G	Pathogenic	Missense variant, coding sequence variant
rs267607151	C>G	Pathogenic	Missense variant, coding sequence variant
rs267607152	A>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs267607153	A>T	Pathogenic	Coding sequence variant, stop gained
rs267607154	C>G	Pathogenic	Missense variant, coding sequence variant
rs538591733	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs587777283	T>C	Pathogenic	Coding sequence variant, missense variant
rs587777284	C>G	Pathogenic	Splice acceptor variant
rs587777285	C>T	Pathogenic	Splice donor variant
rs794726655	CTGGT>-	Pathogenic	Intron variant, splice acceptor variant
rs878853243	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057518477	T>C	Likely-pathogenic	Splice acceptor variant
rs1171910750	GAT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1335735639	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554403626	->ACAGCAA	Pathogenic	Coding sequence variant, frameshift variant
rs1554403767	A>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026095	hsa-miR-196a-5p	Sequencing	20371350
MIRT027371	hsa-miR-101-3p	Sequencing	20371350
MIRT029887	hsa-miR-26b-5p	Microarray	19088304
MIRT546162	hsa-miR-140-5p	PAR-CLIP	21572407
MIRT546161	hsa-miR-5692a	PAR-CLIP	21572407
MIRT546160	hsa-miR-132-3p	PAR-CLIP	21572407
MIRT546159	hsa-miR-212-3p	PAR-CLIP	21572407
MIRT546158	hsa-miR-203b-5p	PAR-CLIP	21572407
MIRT546157	hsa-miR-6718-5p	PAR-CLIP	21572407
MIRT546156	hsa-miR-8063	PAR-CLIP	21572407
MIRT546155	hsa-miR-4698	PAR-CLIP	21572407
MIRT546154	hsa-miR-4727-3p	PAR-CLIP	21572407
MIRT546153	hsa-miR-4460	PAR-CLIP	21572407
MIRT546152	hsa-miR-607	PAR-CLIP	21572407
MIRT319421	hsa-miR-1305	PAR-CLIP	21572407
MIRT735686	hsa-miR-196b-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	32041891
MIRT546162	hsa-miR-140-5p	PAR-CLIP	21572407
MIRT546161	hsa-miR-5692a	PAR-CLIP	21572407
MIRT546160	hsa-miR-132-3p	PAR-CLIP	21572407
MIRT546159	hsa-miR-212-3p	PAR-CLIP	21572407
MIRT546158	hsa-miR-203b-5p	PAR-CLIP	21572407
MIRT546157	hsa-miR-6718-5p	PAR-CLIP	21572407
MIRT546156	hsa-miR-8063	PAR-CLIP	21572407
MIRT546155	hsa-miR-4698	PAR-CLIP	21572407
MIRT546154	hsa-miR-4727-3p	PAR-CLIP	21572407
MIRT546153	hsa-miR-4460	PAR-CLIP	21572407
MIRT546152	hsa-miR-607	PAR-CLIP	21572407
MIRT319421	hsa-miR-1305	PAR-CLIP	21572407
MIRT1459324	hsa-miR-1270	CLIP-seq
MIRT1459325	hsa-miR-1323	CLIP-seq
MIRT1459326	hsa-miR-137	CLIP-seq
MIRT1459327	hsa-miR-300	CLIP-seq
MIRT1459328	hsa-miR-3613-3p	CLIP-seq
MIRT1459329	hsa-miR-371b-5p	CLIP-seq
MIRT1459330	hsa-miR-381	CLIP-seq
MIRT1459331	hsa-miR-3977	CLIP-seq
MIRT1459332	hsa-miR-4307	CLIP-seq
MIRT1459333	hsa-miR-432	CLIP-seq
MIRT1459334	hsa-miR-4531	CLIP-seq
MIRT1459335	hsa-miR-4666-3p	CLIP-seq
MIRT1459336	hsa-miR-4717-3p	CLIP-seq
MIRT1459337	hsa-miR-4799-5p	CLIP-seq
MIRT1459338	hsa-miR-4803	CLIP-seq
MIRT1459339	hsa-miR-499a-5p	CLIP-seq
MIRT1459340	hsa-miR-548c-3p	CLIP-seq
MIRT1459341	hsa-miR-548o	CLIP-seq
MIRT1459342	hsa-miR-578	CLIP-seq
MIRT1459343	hsa-miR-620	CLIP-seq
MIRT1459344	hsa-miR-890	CLIP-seq
MIRT1459345	hsa-miR-892a	CLIP-seq
MIRT2358744	hsa-miR-4775	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0005515	Function	Protein binding	IPI	19587294, 25416956, 32296183
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0007166	Process	Cell surface receptor signaling pathway	ISS
GO:0010842	Process	Retina layer formation	ISS
GO:0016020	Component	Membrane	TAS	10719184
GO:0016021	Component	Integral component of membrane	TAS	10719184
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0042813	Function	Wnt-activated receptor activity	ISS
GO:0045765	Process	Regulation of angiogenesis	ISS
GO:1900746	Process	Regulation of vascular endothelial growth factor signaling pathway	IBA	21873635

Other IDs

• MIM: 613138
• HGNC: 21641
• e!Ensembl: ENSG00000106025

Protein

• UniProt ID: O95859
• Protein name: Tetraspanin-12 (Tspan-12) (Tetraspan NET-2) (Transmembrane 4 superfamily member 12)
• Protein function: Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation o
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00335	Tetraspanin	10 → 247	Tetraspanin family	Family

• Sequence:

  MAREDSVKCLRCLLYALNLLFWLMSISVLAVSAWMRDYLNNVLTLTAETRVEEAVILTYF
  PVVHPVMIAVCCFLIIVGMLGYCGTVKRNLLLLAWYFGSLLVIFCVELACGVWTYEQELM
  VPVQWSDMVTLKARMTNYGLPRYRWLTHAWNFFQREFKCCGVVYFTDWLEMTEMDWPPDS
  CCVREFPGCSKQAHQEDLSDLYQEGCGKKMYSFLRGTKQLQVLRFLGISIGVTQILAMIL
  TITLLWALYYDRREPGTDQMMSLKNDNSQHLSCPSVELLKPSLSRIFEHTSMANSFNTHF
  EMEEL

• Sequence length: 305

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Exudative vitreoretinopathy	Familial Exudative Vitreoretinopathy, Exudative vitreoretinopathy 1, Exudative Vitreoretinopathy 5, Exudative vitreoretinopathy	rs267607154, rs1554403626, rs267607153, rs794726655, rs80358301, rs80358303, rs80358294, rs80358292, rs121908664, rs80358322, rs80358321, rs80358312, rs121908674, rs28939709, rs80358305, rs80358307, rs104894868, rs28933684, rs104894878, rs104894876, rs137852220, rs587777283, rs587777284, rs587777285, rs373273223, rs80358295, rs80358284, rs1057519379, rs1057519380, rs878853243, rs886039332, rs886043590, rs1057518477, rs1555086007, rs1553631770, rs1244761864, rs765402802, rs1460859456, rs1335735639, rs1425566595, rs759432455	20159111, 22427576, 20159112
Persistent hyperplastic primary vitreous	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	rs587777664, rs587777666, rs878853243

Unknown
Disease name	Disease term	dbSNP ID	References
Disorder of eye	Disorder of eye
Norrie disease	Norrie disease
Vitreoretinal degeneration	Vitreoretinal degeneration