Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	54843
Gene name	Synaptotagmin like 2
Gene symbol	SYTL2
Synonyms (NCBI Gene)	CHR11SYTEXO4PPP1R151SGA72MSLP2SLP2A
Chromosome	11
Chromosome location	11q14.1
Summary	The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-2

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519445	C>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant

98 Show/Hide all (98)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023665	hsa-miR-1-3p	Microarray	18668037
MIRT1407819	hsa-miR-144	CLIP-seq
MIRT1407820	hsa-miR-181a	CLIP-seq
MIRT1407821	hsa-miR-181b	CLIP-seq
MIRT1407822	hsa-miR-181c	CLIP-seq
MIRT1407823	hsa-miR-181d	CLIP-seq
MIRT1407824	hsa-miR-1909	CLIP-seq
MIRT1407825	hsa-miR-3160-5p	CLIP-seq
MIRT1407826	hsa-miR-4262	CLIP-seq
MIRT1407827	hsa-miR-4666-5p	CLIP-seq
MIRT1407828	hsa-miR-4728-3p	CLIP-seq
MIRT1407829	hsa-miR-4735-5p	CLIP-seq
MIRT1407830	hsa-miR-548a-3p	CLIP-seq
MIRT1407831	hsa-miR-548e	CLIP-seq
MIRT1407832	hsa-miR-548f	CLIP-seq
MIRT1407833	hsa-miR-561	CLIP-seq
MIRT1407834	hsa-miR-576-5p	CLIP-seq
MIRT1407835	hsa-miR-891b	CLIP-seq
MIRT2122254	hsa-miR-1244	CLIP-seq
MIRT2122255	hsa-miR-1260	CLIP-seq
MIRT2122256	hsa-miR-1260b	CLIP-seq
MIRT2122257	hsa-miR-1283	CLIP-seq
MIRT2122258	hsa-miR-1305	CLIP-seq
MIRT2122259	hsa-miR-1323	CLIP-seq
MIRT2122260	hsa-miR-155	CLIP-seq
MIRT2122261	hsa-miR-188-3p	CLIP-seq
MIRT2122262	hsa-miR-219-2-3p	CLIP-seq
MIRT2122263	hsa-miR-224	CLIP-seq
MIRT2122264	hsa-miR-2964a-3p	CLIP-seq
MIRT2122265	hsa-miR-2964a-5p	CLIP-seq
MIRT2122266	hsa-miR-3156-3p	CLIP-seq
MIRT2122267	hsa-miR-3650	CLIP-seq
MIRT2122268	hsa-miR-3688-5p	CLIP-seq
MIRT2122269	hsa-miR-383	CLIP-seq
MIRT2122270	hsa-miR-3941	CLIP-seq
MIRT2122271	hsa-miR-4276	CLIP-seq
MIRT2122272	hsa-miR-4330	CLIP-seq
MIRT2122273	hsa-miR-4446-5p	CLIP-seq
MIRT2122274	hsa-miR-4643	CLIP-seq
MIRT2122275	hsa-miR-466	CLIP-seq
MIRT2122276	hsa-miR-4672	CLIP-seq
MIRT2122277	hsa-miR-4676-5p	CLIP-seq
MIRT2122278	hsa-miR-4680-3p	CLIP-seq
MIRT2122279	hsa-miR-4714-3p	CLIP-seq
MIRT2122280	hsa-miR-4719	CLIP-seq
MIRT1407829	hsa-miR-4735-5p	CLIP-seq
MIRT2122281	hsa-miR-4789-3p	CLIP-seq
MIRT2122282	hsa-miR-496	CLIP-seq
MIRT2122283	hsa-miR-498	CLIP-seq
MIRT2122284	hsa-miR-510	CLIP-seq
MIRT2122285	hsa-miR-512-5p	CLIP-seq
MIRT2122286	hsa-miR-520d-5p	CLIP-seq
MIRT2122287	hsa-miR-524-5p	CLIP-seq
MIRT2122288	hsa-miR-544	CLIP-seq
MIRT2122289	hsa-miR-548o	CLIP-seq
MIRT2122290	hsa-miR-575	CLIP-seq
MIRT2122291	hsa-miR-654-3p	CLIP-seq
MIRT2122292	hsa-miR-765	CLIP-seq
MIRT2637899	hsa-miR-1304	CLIP-seq
MIRT2637900	hsa-miR-134	CLIP-seq
MIRT1407820	hsa-miR-181a	CLIP-seq
MIRT1407821	hsa-miR-181b	CLIP-seq
MIRT1407822	hsa-miR-181c	CLIP-seq
MIRT1407823	hsa-miR-181d	CLIP-seq
MIRT2637901	hsa-miR-2467-5p	CLIP-seq
MIRT2637902	hsa-miR-3118	CLIP-seq
MIRT2637903	hsa-miR-3164	CLIP-seq
MIRT2637904	hsa-miR-3188	CLIP-seq
MIRT2637905	hsa-miR-3714	CLIP-seq
MIRT2637906	hsa-miR-3922-5p	CLIP-seq
MIRT2637907	hsa-miR-3975	CLIP-seq
MIRT1407826	hsa-miR-4262	CLIP-seq
MIRT2637908	hsa-miR-452	CLIP-seq
MIRT2637909	hsa-miR-4676-3p	CLIP-seq
MIRT2637910	hsa-miR-4684-3p	CLIP-seq
MIRT1407828	hsa-miR-4728-3p	CLIP-seq
MIRT1407829	hsa-miR-4735-5p	CLIP-seq
MIRT2637911	hsa-miR-485-5p	CLIP-seq
MIRT2637912	hsa-miR-513c	CLIP-seq
MIRT2637913	hsa-miR-514b-5p	CLIP-seq
MIRT2637914	hsa-miR-518a-5p	CLIP-seq
MIRT2637915	hsa-miR-527	CLIP-seq
MIRT1407830	hsa-miR-548a-3p	CLIP-seq
MIRT1407831	hsa-miR-548e	CLIP-seq
MIRT1407832	hsa-miR-548f	CLIP-seq
MIRT1407834	hsa-miR-576-5p	CLIP-seq
MIRT2637916	hsa-miR-758	CLIP-seq
MIRT2637899	hsa-miR-1304	CLIP-seq
MIRT2637901	hsa-miR-2467-5p	CLIP-seq
MIRT2637904	hsa-miR-3188	CLIP-seq
MIRT2637905	hsa-miR-3714	CLIP-seq
MIRT2637906	hsa-miR-3922-5p	CLIP-seq
MIRT2637907	hsa-miR-3975	CLIP-seq
MIRT2637908	hsa-miR-452	CLIP-seq
MIRT2637909	hsa-miR-4676-3p	CLIP-seq
MIRT2637911	hsa-miR-485-5p	CLIP-seq
MIRT2637912	hsa-miR-513c	CLIP-seq
MIRT2637913	hsa-miR-514b-5p	CLIP-seq

26 Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001786	Function	Phosphatidylserine binding	IMP	17182843
GO:0005515	Function	Protein binding	IPI	15231748, 18812475, 18940603, 19389623, 32296183
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IMP	17182843
GO:0005737	Component	Cytoplasm	IDA	18812475
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17182843
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006887	Process	Exocytosis	IBA
GO:0006887	Process	Exocytosis	IDA	18812475
GO:0006887	Process	Exocytosis	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	IDA	18812475
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0019902	Function	Phosphatase binding	IDA	19389623
GO:0031267	Function	Small GTPase binding	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042043	Function	Neurexin family protein binding	IBA
GO:0042043	Function	Neurexin family protein binding	ISS
GO:0042470	Component	Melanosome	ISS
GO:0070382	Component	Exocytic vesicle	IBA
GO:0070382	Component	Exocytic vesicle	IDA	18812475

MIM	HGNC	e!Ensembl
612880	15585	ENSG00000137501

Q9HCH5

Protein name

Synaptotagmin-like protein 2 (Breast cancer-associated antigen SGA-72M) (Exophilin-4)

Protein function

Isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinosito

PDB

3BC1 , 7OPP , 7OPQ , 7OPR , 8P3G , 8P3H , 8P3I , 8P3J , 8P3K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	643 → 755	C2 domain	Domain
PF00168	C2	792 → 899	C2 domain	Domain
PF02318	FYVE_2	5 → 61	FYVE-type zinc finger	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is expressed in hematopoietic lineages with a strong expression in CD4 and CD8 T-lymphocytes. It is also widely expressed in nonhematopoietic tissues. Isoform 5 is expressed only in nonhematopoietic tissues. Isoform 4 is expr

Sequence

MIDLSFLTEEEQEAIMKVLQRDAALKRAEEERVRHLPEKIKDDQQLKNMSGQWFYEAKAK
RHRDKIHGADIIRASMRKKRPQIAAEQSKDRENGAKESWVNNVNKDAFLPPELAGVVEEP
EEDAAPASPSSSVVNPASSVIDMSQENTRKPNVSPEKRKNPFNSSKLPEGHSSQQTKNEQ
SKNGRTGLFQTSKEDELSESKEKSTVADTSIQKLEKSKQTLPGLSNGSQIKAPIPKARKM
IYKSTDLNKDDNQSFPRQRTDSLKARGAPRGILKRNSSSSSTDSETLRYNHNFEPKSKIV
SPGLTIHERISEKEHSLEDNSSPNSLEPLKHVRFSAVKDELPQSPGLIHGREVGEFSVLE
SDRLKNGMEDAGDTEEFQSDPKPSQYRKPSLFHQSTSSPYVSKSETHQPMTSGSFPINGL
HSHSEVLTARPQSMENSPTINEPKDKSSELTRLESVLPRSPADELSHCVEPEPSQVPGGS
SRDRQQGSEEEPSPVLKTLERSAARKMPSKSLEDISSDSSNQAKVDNQPEELVRSAEDVS
TVPTQPDNPFSHPDKLKRMSKSVPAFLQDESDDRETDTASESSYQLSRHKKSPSSLTNLS
SSSGMTSLSSVSGSVMSVYSGDFGNLEVKGNIQFAIEYVESLKELHVFVAQCKDLAAADV
KKQRSDPYVKAYLLPDKGKMGKKKTLVVKKTLNPVYNEILRYKIEKQILKTQKLNLSIWH
RDTFKRNSFLGEVELDLETWDWDNKQNKQLRWYPLKRKTAPVALEAENRGEMKLALQYVP
EPVPGKKLPTTGEVHIWVKECLDLPLLRGSHLNSFVKCTILPDTSRKSRQKTRAVGKTTN
PIFNHTMVYDGFRPEDLMEACVELTVWDHYKLTNQFLGGLRIGFGTGKSYGTEVDWMDST
SEEVALWEKMVNSPNTWIEATLPLRMLLIAKISK

Sequence length

934

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Angioedema	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (50)
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	29364474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	26750533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	26750533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	37640670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	30944651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16533792, 19839737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26487491, 27220283, 30944651		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29181097, 29516570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29181097, 29516570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30389319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22875147	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33378017, 35487942	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	35346221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	29195083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	39955494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	16533792, 17342323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	26487491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	30389319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	30389319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	29951933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	23918306, 30389319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29033585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28387911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	28387911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	30389319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	23918306, 30389319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31571899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16533792, 19839737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27220283, 30944651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	23371255, 30555578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	26750533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16533792, 17342323, 23918306, 29033585, 29181097, 29516570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29181097, 29516570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	LHGDN	18832576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19597348, 19839737, 24190591, 26487491, 26750533, 30157785, 30555578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29556045		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27220283, 30944651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24190591, 26750533, 29951933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	28387911, 29364474		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	36232302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	37029109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19839737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16533792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31198983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23371255, 30555578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30555578	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	38073379	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	26750533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	26750533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22724020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with SYTL2 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for SYTL2.

Diseases Linked via Similar Genes Diseases curated for genes most similar to SYTL2 (see Related Genes above), that are NOT already directly curated for SYTL2 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to SYTL2.

SYTL2 (synaptotagmin like 2)

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