PSD2 (pleckstrin and Sec7 domain containing 2)

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

Gene

• Entrez ID: 84249
• Gene name: Pleckstrin and Sec7 domain containing 2
• Gene symbol: PSD2
• Synonyms (NCBI Gene): EFA6C
• Chromosome: 5
• Chromosome location: 5q31.2

miRNA Show/Hide all (75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1269189	hsa-miR-1182	CLIP-seq
MIRT1269190	hsa-miR-1193	CLIP-seq
MIRT1269191	hsa-miR-149	CLIP-seq
MIRT1269192	hsa-miR-185	CLIP-seq
MIRT1269193	hsa-miR-193a-3p	CLIP-seq
MIRT1269194	hsa-miR-193b	CLIP-seq
MIRT1269195	hsa-miR-22	CLIP-seq
MIRT1269196	hsa-miR-2278	CLIP-seq
MIRT1269197	hsa-miR-2392	CLIP-seq
MIRT1269198	hsa-miR-300	CLIP-seq
MIRT1269199	hsa-miR-3125	CLIP-seq
MIRT1269200	hsa-miR-3150b-3p	CLIP-seq
MIRT1269201	hsa-miR-3165	CLIP-seq
MIRT1269202	hsa-miR-3170	CLIP-seq
MIRT1269203	hsa-miR-3176	CLIP-seq
MIRT1269204	hsa-miR-3192	CLIP-seq
MIRT1269205	hsa-miR-3605-5p	CLIP-seq
MIRT1269206	hsa-miR-3667-3p	CLIP-seq
MIRT1269207	hsa-miR-3682-5p	CLIP-seq
MIRT1269208	hsa-miR-3689a-3p	CLIP-seq
MIRT1269209	hsa-miR-3689c	CLIP-seq
MIRT1269210	hsa-miR-381	CLIP-seq
MIRT1269211	hsa-miR-3907	CLIP-seq
MIRT1269212	hsa-miR-3916	CLIP-seq
MIRT1269213	hsa-miR-3921	CLIP-seq
MIRT1269214	hsa-miR-3922-3p	CLIP-seq
MIRT1269215	hsa-miR-3944-5p	CLIP-seq
MIRT1269216	hsa-miR-4267	CLIP-seq
MIRT1269217	hsa-miR-4270	CLIP-seq
MIRT1269218	hsa-miR-4303	CLIP-seq
MIRT1269219	hsa-miR-4306	CLIP-seq
MIRT1269220	hsa-miR-4329	CLIP-seq
MIRT1269221	hsa-miR-4441	CLIP-seq
MIRT1269222	hsa-miR-4477b	CLIP-seq
MIRT1269223	hsa-miR-4640-5p	CLIP-seq
MIRT1269224	hsa-miR-4644	CLIP-seq
MIRT1269225	hsa-miR-4653-5p	CLIP-seq
MIRT1269226	hsa-miR-4666-3p	CLIP-seq
MIRT1269227	hsa-miR-4699-3p	CLIP-seq
MIRT1269228	hsa-miR-4726-5p	CLIP-seq
MIRT1269229	hsa-miR-4728-5p	CLIP-seq
MIRT1269230	hsa-miR-4731-5p	CLIP-seq
MIRT1269231	hsa-miR-4784	CLIP-seq
MIRT1269232	hsa-miR-4786-5p	CLIP-seq
MIRT1269233	hsa-miR-4789-5p	CLIP-seq
MIRT1269234	hsa-miR-570	CLIP-seq
MIRT1269235	hsa-miR-760	CLIP-seq
MIRT1269236	hsa-miR-764	CLIP-seq
MIRT1269237	hsa-miR-765	CLIP-seq
MIRT1269238	hsa-miR-769-5p	CLIP-seq
MIRT2079084	hsa-miR-1228	CLIP-seq
MIRT2079085	hsa-miR-342-3p	CLIP-seq
MIRT2079086	hsa-miR-4281	CLIP-seq
MIRT2305425	hsa-miR-1321	CLIP-seq
MIRT2305426	hsa-miR-3129-3p	CLIP-seq
MIRT2305427	hsa-miR-3612	CLIP-seq
MIRT2305428	hsa-miR-3661	CLIP-seq
MIRT1269208	hsa-miR-3689a-3p	CLIP-seq
MIRT1269209	hsa-miR-3689c	CLIP-seq
MIRT2305429	hsa-miR-4477a	CLIP-seq
MIRT1269229	hsa-miR-4728-5p	CLIP-seq
MIRT2305430	hsa-miR-4739	CLIP-seq
MIRT2305431	hsa-miR-4756-5p	CLIP-seq
MIRT2305432	hsa-miR-595	CLIP-seq
MIRT2305433	hsa-miR-631	CLIP-seq
MIRT2305434	hsa-miR-650	CLIP-seq
MIRT1269238	hsa-miR-769-5p	CLIP-seq
MIRT1269223	hsa-miR-4640-5p	CLIP-seq
MIRT1269228	hsa-miR-4726-5p	CLIP-seq
MIRT1269191	hsa-miR-149	CLIP-seq
MIRT2457295	hsa-miR-3194-3p	CLIP-seq
MIRT1269235	hsa-miR-760	CLIP-seq
MIRT2457296	hsa-miR-767-3p	CLIP-seq
MIRT2602516	hsa-miR-548l	CLIP-seq
MIRT2602517	hsa-miR-548n	CLIP-seq

Gene ontology (GO) Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005543	Function	Phospholipid binding	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0030425	Component	Dendrite	IEA
GO:0032012	Process	Regulation of ARF protein signal transduction	IEA
GO:0032154	Component	Cleavage furrow	IEA
GO:0032154	Component	Cleavage furrow	ISS
GO:0032587	Component	Ruffle membrane	IEA
GO:0032587	Component	Ruffle membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

Other IDs

• MIM: 620656
• HGNC: 19092
• e!Ensembl: ENSG00000146005

Protein

• UniProt ID: Q9BQI7
• Protein name: PH and SEC7 domain-containing protein 2 (Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 C) (Exchange factor for ARF6 C) (Pleckstrin homology and SEC7 domain-containing protein 2)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01369	Sec7	296 → 464	Sec7 domain	Domain
  PF15410	PH_9	514 → 625	Pleckstrin homology domain	Domain

• Sequence:

  MEEDKLLSAVPEEGDATRDPGPEPEEEPGVRNGMASEGLNSSLCSPGHERRGTPADTEEP
  TKDPDVAFHGLSLGLSLTNGLALGPDLNILEDSAESRPWRAGVLAEGDNASRSLYPDAED
  PQLGLDGPGEPDVRDGFSATFEKILESELLRGTQYSSLDSLDGLSLTDESDSCVSFEAPL
  TPLIQQRARDSPEPGAGLGIGDMAFEGDMGAAGGDGELGSPLRRSISSSRSENVLSRLSL
  MAMPNGFHEDGPQGPGGDEDDDEEDTDKLLNSASDPSLKDGLSDSDSELSSSEGLEPGSA
  DPLANGCQGVSEAAHRLARRLYHLEGFQRCDVARQLGKNNEFSRLVAGEYLSFFDFSGLT
  LDGALRTFLKAFPLMGETQERERVLTHFSRRYCQCNPDDSTSEDGIHTLTCALMLLNTDL
  HGHNIGKKMSCQQFIANLDQLNDGQDFAKDLLKTLYNSIKNEKLEWAIDEDELRKSLSEL
  VDDKFGTGTKKVTRILDGGNPFLDVPQALSATTYKHGVLTRKTHADMDGKRTPRGRRGWK
  KFYAVLKGTILYLQKDEYRPDKALSEGDLKNAIRVHHALATRASDYSKKSNVLKLKTADW
  RVFLFQAPSKEEMLSWILRINLVAAIFSAPAFPAAVSSMKKFCRPLLPSCTTRLCQEEQL
  RSHENKLRQLTAELAEHRCHPVERGIKSKEAEEYRLKEHYLTFEKSRYETYIHLLAMKIK
  VGSDDLERIEARLATLEGDDPSLRKTHSSPALSQGHVTGSKTTKDATGPDT

• Sequence length: 771

Pathways

KEGG Pathway:

Endocytosis

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	Reference	Evidence Score
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	39046104	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	28738127		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29084334	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for PSD2.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to PSD2.