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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7044
Gene name Gene Name - the full gene name approved by the HGNC.	Left-right determination factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LEFTY2
Synonyms (NCBI Gene) Gene synonyms aliases	EBAF, LEFTA, LEFTYA, TGFB4
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q42.12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs777139964	G>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant

Show/Hide all(28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005557	hsa-miR-302a-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21266536
MIRT005634	hsa-miR-302d-3p	Immunohistochemistry, Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blo	21266536
MIRT437959	hsa-miR-373-3p	Luciferase reporter assay	24709321
MIRT437959	hsa-miR-373-3p	Luciferase reporter assay	24709321
MIRT437959	hsa-miR-373-3p	Luciferase reporter assay	24709321
MIRT437959	hsa-miR-373-3p	Luciferase reporter assay	24709321
MIRT643756	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT643757	hsa-miR-4267	HITS-CLIP	23824327
MIRT643755	hsa-miR-5193	HITS-CLIP	23824327
MIRT643754	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT643753	hsa-miR-4268	HITS-CLIP	23824327
MIRT643752	hsa-miR-3658	HITS-CLIP	23824327
MIRT643751	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT643756	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT643757	hsa-miR-4267	HITS-CLIP	23824327
MIRT643755	hsa-miR-5193	HITS-CLIP	23824327
MIRT643754	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT643753	hsa-miR-4268	HITS-CLIP	23824327
MIRT643752	hsa-miR-3658	HITS-CLIP	23824327
MIRT643751	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT1107236	hsa-miR-24	CLIP-seq
MIRT1107237	hsa-miR-3925-3p	CLIP-seq
MIRT1107238	hsa-miR-4264	CLIP-seq
MIRT1107239	hsa-miR-4708-3p	CLIP-seq
MIRT1107240	hsa-miR-520a-5p	CLIP-seq
MIRT1107241	hsa-miR-525-5p	CLIP-seq
MIRT1107242	hsa-miR-622	CLIP-seq
MIRT1107243	hsa-miR-766	CLIP-seq

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002576	Process	Platelet degranulation	TAS
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005160	Function	Transforming growth factor beta receptor binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	TAS	9153275
GO:0007275	Process	Multicellular organism development	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	21873635
GO:0030509	Process	BMP signaling pathway	IBA	21873635
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0060395	Process	SMAD protein signal transduction	IBA	21873635
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23658023

MIM	HGNC	e!Ensembl
601877	3122	ENSG00000143768

Protein

UniProt ID

O00292

Protein name

Left-right determination factor 2 (Endometrial bleeding-associated factor) (Left-right determination factor A) (Protein lefty-2) (Protein lefty-A) (Transforming growth factor beta-4) (TGF-beta-4)

Protein function

Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	76 → 229	TGF-beta propeptide	Family
PF00019	TGF_beta	262 → 353	Transforming growth factor beta like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Mesenchymal cells of the endometrial stroma.

Sequence

MWPLWLCWALWVLPLAGPGAALTEEQLLGSLLRQLQLSEVPVLDRADMEKLVIPAHVRAQ
YVVLLRRSHGDRSRGKRFSQSFREVAGRFLASEASTHLLVFGMEQRLPPNSELVQAVLRL
FQEPVPKAALHRHGRLSPRSAQARVTVEWLRVRDDGSNRTSLIDSRLVSVHESGWKAFDV
TEAVNFWQQLSRPRQPLLLQVSVQREHLGPLASGAHKLVRFASQGAPAGLGEPQLELHTL
DLRDYGAQGDCDPEAPMTEGTRCCRQEMYIDLQGMKWAKNWVLEPPGFLAYECVGTCQQP
PEALAFNWPFLGPRQCIASETASLPMIVSIKEGGRTRPQVVSLPNMRVQKCSCASDGALV
PRRLQP

Sequence length

366

Interactions

View interactions

	KEGG		Reactome
	TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells		Platelet degranulation

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial isomerism	Right Atrial Isomerism	rs121434422, rs606231383, rs1555702261, rs753643819	10053005
Heterotaxia	Heterotaxy Syndrome	rs200321595, rs775946081, rs1060501464, rs1560086701	10053005
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	10053005

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	Source
Unknown
Heterotaxy, Visceral	visceral heterotaxy		GenCC
Congenital Heart Disease	congenital heart disease		GenCC
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587	GWAS, CBGDA

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	40244244
Double Outlet Right Ventricle	Inhibit	23899608
Endometrial Neoplasms	Inhibit	19874624, 29845221
Endometrial Neoplasms	Associate	27497669, 32236143
Exfoliation Syndrome	Stimulate	34964803
Glaucoma	Associate	27293372
Glioma	Associate	36124685
Granulosa cell tumor of the ovary	Associate	26497383
Heart Diseases	Associate	23899608
Heart Septal Defects Ventricular	Associate	23899608
Menorrhagia	Associate	32236143
Neoplasm Invasiveness	Inhibit	30401983
Neoplasms	Inhibit	27497669, 29845221, 32236143
Retinoblastoma	Associate	30401983
Severe Acute Respiratory Syndrome	Associate	38575325
Uterine Diseases	Associate	32236143, 9153275

LEFTY2 (left-right determination factor 2)