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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7044
Gene name	Left-right determination factor 2
Gene symbol	LEFTY2
Synonyms (NCBI Gene)	EBAFLEFTALEFTYATGFB4
Chromosome	1
Chromosome location	1q42.12
Summary	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

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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005557	hsa-miR-302a-3p	ImmunohistochemistryLuciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern blot	21266536
MIRT005634	hsa-miR-302d-3p	ImmunohistochemistryLuciferase reporter assayMicroarrayNorthern blotqRT-PCRWestern 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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005160	Function	Transforming growth factor beta receptor binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0009948	Process	Anterior/posterior axis specification	IBA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0031012	Component	Extracellular matrix	HDA	23658023
GO:0031093	Component	Platelet alpha granule lumen	TAS

MIM	HGNC	e!Ensembl
601877	3122	ENSG00000143768

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

144

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Left-right axis malformations	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs545519108, rs754829336, rs781615840, rs571804276, rs1432998403, rs772445393, rs764757236, rs746743976, rs1024178424, rs1257327332, rs951676207, rs143444872, rs199979438, rs74578461, rs149969900 View all (107 more)	RCV001316183 RCV001342088 RCV001348886 RCV001360059 RCV001358947 RCV001438510 RCV001435763 RCV001463146 RCV001470121 RCV001505731 RCV001479240 RCV001519675 RCV000474712 RCV000397720 RCV000466563 RCV000467952 RCV000461305 RCV001913896 RCV002037537 RCV001912979 RCV002030574 RCV001899755 RCV001909351 RCV002173249 RCV002169971 RCV002201327 RCV002294868 RCV002299911 RCV003060594 RCV003085961 RCV003085962 RCV003090371 RCV002585691 RCV002612416 RCV002667882 RCV002856198 RCV002890208 RCV002947120 RCV002926860 RCV002966493 RCV002985710 RCV005099679 RCV000008078 RCV000008079 RCV000229178 RCV000537742 RCV001100760 RCV001443005 RCV000644866 RCV000374488 RCV000261956 RCV000861464 RCV000331080 RCV000296054 RCV000344010 RCV000397722 RCV000260078 RCV000317507 RCV000388026 RCV000816180 RCV000326907 RCV000292477 RCV000472797 RCV001048756 RCV000472160 RCV000332564 RCV003509844 RCV003511054 RCV003511256 RCV003509099 RCV003619953 RCV003620622 RCV003620855 RCV003621365 RCV003619194 RCV003619417 RCV003619441 RCV003619479 RCV003619497 RCV003620247 RCV003620191 RCV003620349 RCV003814426 RCV003877821 RCV003879322 RCV003879771 RCV003881117 RCV000462854 RCV000456894 RCV000475852 RCV000466139 RCV000557294 RCV000549597 RCV001459961 RCV000644863 RCV000644864 RCV000644865 RCV000644867 RCV000812132 RCV000861123 RCV000863582 RCV000863689 RCV001511863 RCV003619726 RCV000865889 RCV001484145 RCV001416567 RCV000878389 RCV000981352 RCV000977948 RCV001050633 RCV001100658 RCV001100927 RCV001100928 RCV001100929 RCV001100930 RCV001097188 RCV001098944 RCV001098946 RCV001100761 RCV001101019 RCV001101020 RCV001098945 RCV001205742 RCV001204372 RCV001228086 RCV001302101
LEFTY2-related disorder	Uncertain significance; Benign; Likely benign	rs780132877, rs373002929, rs112610798, rs429477, rs376643564, rs780037300, rs370508860, rs543472211, rs780082623, rs755946624	RCV003416792 RCV003393098 RCV003920200 RCV003910081 RCV003984375 RCV003897193 RCV003953152 RCV004754571 RCV003965702 RCV003945809
See cases	Uncertain significance	rs1432998403	RCV005245519
Visceral heterotaxy	Uncertain significance	rs886046059, rs886046060	RCV000383720 RCV000291786

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)