Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	8448
Gene name	Double C2 domain alpha
Gene symbol	DOC2A
Synonyms (NCBI Gene)	Doc2
Chromosome	16
Chromosome location	16p11.2
Summary	There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene whic

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miRTarBase ID	miRNA	Experiments
MIRT942719	hsa-miR-1207-5p	CLIP-seq
MIRT942720	hsa-miR-1257	CLIP-seq
MIRT942721	hsa-miR-1291	CLIP-seq
MIRT942722	hsa-miR-1305	CLIP-seq
MIRT942723	hsa-miR-130a	CLIP-seq
MIRT942724	hsa-miR-130b	CLIP-seq
MIRT942725	hsa-miR-153	CLIP-seq
MIRT942726	hsa-miR-1909	CLIP-seq
MIRT942727	hsa-miR-196a	CLIP-seq
MIRT942728	hsa-miR-196b	CLIP-seq
MIRT942729	hsa-miR-301a	CLIP-seq
MIRT942730	hsa-miR-301b	CLIP-seq
MIRT942731	hsa-miR-3173-5p	CLIP-seq
MIRT942732	hsa-miR-3666	CLIP-seq
MIRT942733	hsa-miR-3686	CLIP-seq
MIRT942734	hsa-miR-3927	CLIP-seq
MIRT942735	hsa-miR-4269	CLIP-seq
MIRT942736	hsa-miR-4295	CLIP-seq
MIRT942737	hsa-miR-4459	CLIP-seq
MIRT942738	hsa-miR-4464	CLIP-seq
MIRT942739	hsa-miR-448	CLIP-seq
MIRT942740	hsa-miR-4501	CLIP-seq
MIRT942741	hsa-miR-4514	CLIP-seq
MIRT942742	hsa-miR-454	CLIP-seq
MIRT942743	hsa-miR-4652-3p	CLIP-seq
MIRT942744	hsa-miR-4670-3p	CLIP-seq
MIRT942745	hsa-miR-4671-3p	CLIP-seq
MIRT942746	hsa-miR-4692	CLIP-seq
MIRT942747	hsa-miR-4719	CLIP-seq
MIRT942748	hsa-miR-4722-5p	CLIP-seq
MIRT942749	hsa-miR-4736	CLIP-seq
MIRT942750	hsa-miR-4742-3p	CLIP-seq
MIRT942751	hsa-miR-4742-5p	CLIP-seq
MIRT942752	hsa-miR-4748	CLIP-seq
MIRT942753	hsa-miR-4749-3p	CLIP-seq
MIRT942754	hsa-miR-4763-3p	CLIP-seq
MIRT942755	hsa-miR-4779	CLIP-seq
MIRT942756	hsa-miR-665	CLIP-seq
MIRT942757	hsa-miR-940	CLIP-seq
MIRT942719	hsa-miR-1207-5p	CLIP-seq
MIRT942721	hsa-miR-1291	CLIP-seq
MIRT942726	hsa-miR-1909	CLIP-seq
MIRT942731	hsa-miR-3173-5p	CLIP-seq
MIRT1979174	hsa-miR-3177-3p	CLIP-seq
MIRT1979175	hsa-miR-361-3p	CLIP-seq
MIRT1979176	hsa-miR-3657	CLIP-seq
MIRT1979177	hsa-miR-4297	CLIP-seq
MIRT1979178	hsa-miR-4436b-3p	CLIP-seq
MIRT942737	hsa-miR-4459	CLIP-seq
MIRT1979179	hsa-miR-4718	CLIP-seq
MIRT942748	hsa-miR-4722-5p	CLIP-seq
MIRT942749	hsa-miR-4736	CLIP-seq
MIRT942754	hsa-miR-4763-3p	CLIP-seq
MIRT942755	hsa-miR-4779	CLIP-seq
MIRT942756	hsa-miR-665	CLIP-seq
MIRT942757	hsa-miR-940	CLIP-seq
MIRT2214268	hsa-miR-642b	CLIP-seq
MIRT2448469	hsa-miR-30a	CLIP-seq
MIRT2448470	hsa-miR-30b	CLIP-seq
MIRT2448471	hsa-miR-30c	CLIP-seq
MIRT2448472	hsa-miR-30d	CLIP-seq
MIRT2448473	hsa-miR-30e	CLIP-seq
MIRT1979174	hsa-miR-3177-3p	CLIP-seq
MIRT1979175	hsa-miR-361-3p	CLIP-seq
MIRT1979176	hsa-miR-3657	CLIP-seq
MIRT1979178	hsa-miR-4436b-3p	CLIP-seq
MIRT2448474	hsa-miR-4484	CLIP-seq
MIRT1979179	hsa-miR-4718	CLIP-seq
MIRT2214268	hsa-miR-642b	CLIP-seq
MIRT2448469	hsa-miR-30a	CLIP-seq
MIRT2448470	hsa-miR-30b	CLIP-seq
MIRT2448471	hsa-miR-30c	CLIP-seq
MIRT2448472	hsa-miR-30d	CLIP-seq
MIRT2448473	hsa-miR-30e	CLIP-seq
MIRT1979174	hsa-miR-3177-3p	CLIP-seq
MIRT2448474	hsa-miR-4484	CLIP-seq
MIRT2214268	hsa-miR-642b	CLIP-seq
MIRT942719	hsa-miR-1207-5p	CLIP-seq
MIRT942721	hsa-miR-1291	CLIP-seq
MIRT942726	hsa-miR-1909	CLIP-seq
MIRT2518600	hsa-miR-22	CLIP-seq
MIRT2448469	hsa-miR-30a	CLIP-seq
MIRT2448470	hsa-miR-30b	CLIP-seq
MIRT2448471	hsa-miR-30c	CLIP-seq
MIRT2448472	hsa-miR-30d	CLIP-seq
MIRT2448473	hsa-miR-30e	CLIP-seq
MIRT942731	hsa-miR-3173-5p	CLIP-seq
MIRT1979174	hsa-miR-3177-3p	CLIP-seq
MIRT1979175	hsa-miR-361-3p	CLIP-seq
MIRT1979176	hsa-miR-3657	CLIP-seq
MIRT1979177	hsa-miR-4297	CLIP-seq
MIRT2518601	hsa-miR-4313	CLIP-seq
MIRT942737	hsa-miR-4459	CLIP-seq
MIRT2448474	hsa-miR-4484	CLIP-seq
MIRT2518602	hsa-miR-4659a-5p	CLIP-seq
MIRT2518603	hsa-miR-4659b-5p	CLIP-seq
MIRT2518604	hsa-miR-4685-5p	CLIP-seq
MIRT2518605	hsa-miR-4707-5p	CLIP-seq
MIRT942749	hsa-miR-4736	CLIP-seq
MIRT942754	hsa-miR-4763-3p	CLIP-seq
MIRT2518606	hsa-miR-4769-3p	CLIP-seq
MIRT942755	hsa-miR-4779	CLIP-seq
MIRT2214268	hsa-miR-642b	CLIP-seq
MIRT942756	hsa-miR-665	CLIP-seq
MIRT942719	hsa-miR-1207-5p	CLIP-seq
MIRT942721	hsa-miR-1291	CLIP-seq
MIRT942726	hsa-miR-1909	CLIP-seq
MIRT2448469	hsa-miR-30a	CLIP-seq
MIRT2448470	hsa-miR-30b	CLIP-seq
MIRT2448471	hsa-miR-30c	CLIP-seq
MIRT2448472	hsa-miR-30d	CLIP-seq
MIRT2448473	hsa-miR-30e	CLIP-seq
MIRT942731	hsa-miR-3173-5p	CLIP-seq
MIRT1979174	hsa-miR-3177-3p	CLIP-seq
MIRT1979175	hsa-miR-361-3p	CLIP-seq
MIRT1979176	hsa-miR-3657	CLIP-seq
MIRT1979177	hsa-miR-4297	CLIP-seq
MIRT2518601	hsa-miR-4313	CLIP-seq
MIRT942737	hsa-miR-4459	CLIP-seq
MIRT2448474	hsa-miR-4484	CLIP-seq
MIRT2518605	hsa-miR-4707-5p	CLIP-seq
MIRT942749	hsa-miR-4736	CLIP-seq
MIRT942754	hsa-miR-4763-3p	CLIP-seq
MIRT942755	hsa-miR-4779	CLIP-seq
MIRT2214268	hsa-miR-642b	CLIP-seq
MIRT942756	hsa-miR-665	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18354201, 24722188, 28514442, 32296183, 33961781
GO:0005544	Function	Calcium-dependent phospholipid binding	IEA
GO:0005764	Component	Lysosome	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	7826360
GO:0007399	Process	Nervous system development	TAS	7826360
GO:0016020	Component	Membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0017158	Process	Regulation of calcium ion-dependent exocytosis	IEA
GO:0017158	Process	Regulation of calcium ion-dependent exocytosis	IMP	18354201
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0061669	Process	Spontaneous neurotransmitter secretion	IEA
GO:0098850	Component	Extrinsic component of synaptic vesicle membrane	IBA
GO:0098850	Component	Extrinsic component of synaptic vesicle membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099502	Process	Calcium-dependent activation of synaptic vesicle fusion	IBA
GO:0099502	Process	Calcium-dependent activation of synaptic vesicle fusion	IEA

MIM	HGNC	e!Ensembl
604567	2985	ENSG00000149927

Q14183

Protein name

Double C2-like domain-containing protein alpha (Doc2) (Doc2-alpha)

Protein function

Calcium sensor which most probably regulates fusion of vesicles with membranes. Binds calcium and phospholipids. May be involved in calcium dependent neurotransmitter release through the interaction with UNC13A. May be involved in calcium-depend

PDB

4MJJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	104 → 213	C2 domain	Domain
PF00168	C2	267 → 372	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in brain. Also expressed in testis. {ECO:0000269|PubMed:7826360, ECO:0000269|PubMed:8554557}.

Sequence

MRGRRGDRMTINIQEHMAINVCPGPIRPIRQISDYFPRGPGPEGGGGGGGEAPAHLVPLA
LAPPAALLGATTPEDGAEVDSYDSDDATALGTLEFDLLYDRASCTLHCSILRAKGLKPMD
FNGLADPYVKLHLLPGACKANKLKTKTQRNTLNPVWNEDLTYSGITDDDITHKVLRIAVC
DEDKLSHNEFIGEIRVPLRRLKPSQKKHFNICLERQVPLASPSSMSAALRGISCYLKELE
QAEQGQGLLEERGRILLSLSYSSRRRGLLVGILRCAHLAAMDVNGYSDPYVKTYLRPDVD
KKSKHKTCVKKKTLNPEFNEEFFYEIELSTLATKTLEVTVWDYDIGKSNDFIGGVSLGPG
ARGEARKHWSDCLQQPDAALERWHTLTSELPPAAGALSSA

Sequence length

400

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	11406647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	11406647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34937778	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30878151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17671122, 30459405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11406647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17671122, 30459405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11406647, 8314147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	11406647, 9696034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	9696034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	30844661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	9696034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	9696034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32943609	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	11406647	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11406647, 8314147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11406647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11812785, 16267015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17671122, 30459405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11687976, 16267015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11406647, 11687976, 27036023		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11406647, 8314147		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11406647	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	11406647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	11406647	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11812785, 16267015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23308052, 24867541	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	20503337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	16024609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	17671122, 27003158		★★★★★ ★☆☆☆☆ Found in Text Mining only

DOC2A (double C2 domain alpha)