CD109 (CD109 molecule)

Gene

• Entrez ID: 135228
• Gene name: CD109 molecule
• Gene symbol: CD109
• Synonyms (NCBI Gene): CPAMD7, p180, r150
• Chromosome: 6
• Chromosome location: 6q13
• Summary: This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020701	hsa-miR-155-5p	Proteomics	18668040
MIRT023686	hsa-miR-1-3p	Proteomics	18668040
MIRT023686	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT721115	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT721114	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT721113	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT709006	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT709005	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT709004	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT709003	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT709002	hsa-miR-4482-3p	HITS-CLIP	19536157
MIRT709006	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT709005	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT709004	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT709003	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT709002	hsa-miR-4482-3p	HITS-CLIP	19536157
MIRT709006	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT709005	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT709004	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT709003	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT709002	hsa-miR-4482-3p	HITS-CLIP	19536157
MIRT709006	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT709005	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT709004	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT709003	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT709002	hsa-miR-4482-3p	HITS-CLIP	19536157
MIRT721115	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT721114	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT721113	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT709006	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT709005	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT709004	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT709003	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT709002	hsa-miR-4482-3p	HITS-CLIP	19536157
MIRT709006	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT709005	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT709004	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT709003	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT709002	hsa-miR-4482-3p	HITS-CLIP	19536157
MIRT709006	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT709005	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT709004	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT709003	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT709002	hsa-miR-4482-3p	HITS-CLIP	19536157
MIRT709006	hsa-miR-449b-3p	HITS-CLIP	19536157
MIRT709005	hsa-miR-1199-5p	HITS-CLIP	19536157
MIRT709004	hsa-miR-6751-3p	HITS-CLIP	19536157
MIRT709003	hsa-miR-6807-5p	HITS-CLIP	19536157
MIRT709002	hsa-miR-4482-3p	HITS-CLIP	19536157
MIRT873637	hsa-miR-122	CLIP-seq
MIRT873638	hsa-miR-1252	CLIP-seq
MIRT873639	hsa-miR-1253	CLIP-seq
MIRT873640	hsa-miR-1321	CLIP-seq
MIRT873641	hsa-miR-2117	CLIP-seq
MIRT873642	hsa-miR-214	CLIP-seq
MIRT873643	hsa-miR-3121-3p	CLIP-seq
MIRT873644	hsa-miR-3135b	CLIP-seq
MIRT873645	hsa-miR-3162-5p	CLIP-seq
MIRT873646	hsa-miR-3194-3p	CLIP-seq
MIRT873647	hsa-miR-320a	CLIP-seq
MIRT873648	hsa-miR-320b	CLIP-seq
MIRT873649	hsa-miR-320c	CLIP-seq
MIRT873650	hsa-miR-320d	CLIP-seq
MIRT873651	hsa-miR-361-3p	CLIP-seq
MIRT873652	hsa-miR-3619-5p	CLIP-seq
MIRT873653	hsa-miR-3652	CLIP-seq
MIRT873654	hsa-miR-3920	CLIP-seq
MIRT873655	hsa-miR-4274	CLIP-seq
MIRT873656	hsa-miR-4291	CLIP-seq
MIRT873657	hsa-miR-4311	CLIP-seq
MIRT873658	hsa-miR-4429	CLIP-seq
MIRT873659	hsa-miR-4430	CLIP-seq
MIRT873660	hsa-miR-4434	CLIP-seq
MIRT873661	hsa-miR-4516	CLIP-seq
MIRT873662	hsa-miR-4521	CLIP-seq
MIRT873663	hsa-miR-4684-5p	CLIP-seq
MIRT873664	hsa-miR-4695-3p	CLIP-seq
MIRT873665	hsa-miR-4739	CLIP-seq
MIRT873666	hsa-miR-4756-5p	CLIP-seq
MIRT873667	hsa-miR-4789-3p	CLIP-seq
MIRT873668	hsa-miR-4799-5p	CLIP-seq
MIRT873669	hsa-miR-515-5p	CLIP-seq
MIRT873670	hsa-miR-539	CLIP-seq
MIRT873671	hsa-miR-654-3p	CLIP-seq
MIRT873672	hsa-miR-761	CLIP-seq
MIRT873673	hsa-miR-922	CLIP-seq
MIRT873640	hsa-miR-1321	CLIP-seq
MIRT873645	hsa-miR-3162-5p	CLIP-seq
MIRT873646	hsa-miR-3194-3p	CLIP-seq
MIRT739427	hsa-miR-3664-3p	CLIP-seq
MIRT739428	hsa-miR-3907	CLIP-seq
MIRT873654	hsa-miR-3920	CLIP-seq
MIRT873674	hsa-miR-4715-3p	CLIP-seq
MIRT873675	hsa-miR-4731-5p	CLIP-seq
MIRT873676	hsa-miR-4738-3p	CLIP-seq
MIRT873665	hsa-miR-4739	CLIP-seq
MIRT873666	hsa-miR-4756-5p	CLIP-seq
MIRT873677	hsa-miR-4757-5p	CLIP-seq
MIRT873678	hsa-miR-4766-5p	CLIP-seq
MIRT873679	hsa-miR-4794	CLIP-seq
MIRT873680	hsa-miR-512-3p	CLIP-seq
MIRT873681	hsa-miR-513a-3p	CLIP-seq
MIRT873669	hsa-miR-515-5p	CLIP-seq
MIRT873670	hsa-miR-539	CLIP-seq
MIRT739426	hsa-miR-542-5p	CLIP-seq
MIRT873682	hsa-miR-759	CLIP-seq
MIRT739427	hsa-miR-3664-3p	CLIP-seq
MIRT739428	hsa-miR-3907	CLIP-seq
MIRT739426	hsa-miR-542-5p	CLIP-seq
MIRT1959161	hsa-miR-1243	CLIP-seq
MIRT1959162	hsa-miR-3654	CLIP-seq
MIRT873681	hsa-miR-513a-3p	CLIP-seq
MIRT1959163	hsa-miR-3120-5p	CLIP-seq
MIRT739427	hsa-miR-3664-3p	CLIP-seq
MIRT739428	hsa-miR-3907	CLIP-seq
MIRT873676	hsa-miR-4738-3p	CLIP-seq
MIRT873678	hsa-miR-4766-5p	CLIP-seq
MIRT739426	hsa-miR-542-5p	CLIP-seq
MIRT1959164	hsa-miR-548n	CLIP-seq
MIRT1959165	hsa-miR-548t	CLIP-seq
MIRT873682	hsa-miR-759	CLIP-seq
MIRT2196098	hsa-miR-4438	CLIP-seq
MIRT2196099	hsa-miR-5095	CLIP-seq
MIRT2196100	hsa-miR-101	CLIP-seq
MIRT873637	hsa-miR-122	CLIP-seq
MIRT2196101	hsa-miR-1286	CLIP-seq
MIRT2196102	hsa-miR-144	CLIP-seq
MIRT873644	hsa-miR-3135b	CLIP-seq
MIRT2196103	hsa-miR-3149	CLIP-seq
MIRT2196104	hsa-miR-3170	CLIP-seq
MIRT2196105	hsa-miR-342-5p	CLIP-seq
MIRT873651	hsa-miR-361-3p	CLIP-seq
MIRT873653	hsa-miR-3652	CLIP-seq
MIRT739427	hsa-miR-3664-3p	CLIP-seq
MIRT2196106	hsa-miR-3664-5p	CLIP-seq
MIRT2196107	hsa-miR-3940-5p	CLIP-seq
MIRT2196108	hsa-miR-3944-5p	CLIP-seq
MIRT2196109	hsa-miR-4252	CLIP-seq
MIRT2196110	hsa-miR-4284	CLIP-seq
MIRT873659	hsa-miR-4430	CLIP-seq
MIRT2196098	hsa-miR-4438	CLIP-seq
MIRT2196111	hsa-miR-4507	CLIP-seq
MIRT2196112	hsa-miR-4639-3p	CLIP-seq
MIRT2196113	hsa-miR-4651	CLIP-seq
MIRT2196114	hsa-miR-4664-5p	CLIP-seq
MIRT873664	hsa-miR-4695-3p	CLIP-seq
MIRT2196115	hsa-miR-4716-5p	CLIP-seq
MIRT2196116	hsa-miR-4722-5p	CLIP-seq
MIRT873675	hsa-miR-4731-5p	CLIP-seq
MIRT2196099	hsa-miR-5095	CLIP-seq
MIRT873680	hsa-miR-512-3p	CLIP-seq
MIRT739426	hsa-miR-542-5p	CLIP-seq
MIRT2196117	hsa-miR-587	CLIP-seq
MIRT2196118	hsa-miR-608	CLIP-seq
MIRT873682	hsa-miR-759	CLIP-seq
MIRT2385726	hsa-miR-4436b-5p	CLIP-seq
MIRT873641	hsa-miR-2117	CLIP-seq
MIRT2436171	hsa-miR-4475	CLIP-seq
MIRT873662	hsa-miR-4521	CLIP-seq
MIRT873663	hsa-miR-4684-5p	CLIP-seq
MIRT873641	hsa-miR-2117	CLIP-seq
MIRT2436171	hsa-miR-4475	CLIP-seq
MIRT873662	hsa-miR-4521	CLIP-seq
MIRT873663	hsa-miR-4684-5p	CLIP-seq
MIRT2499149	hsa-miR-1185	CLIP-seq
MIRT873637	hsa-miR-122	CLIP-seq
MIRT2499150	hsa-miR-1228	CLIP-seq
MIRT2499151	hsa-miR-1229	CLIP-seq
MIRT873638	hsa-miR-1252	CLIP-seq
MIRT2499152	hsa-miR-1265	CLIP-seq
MIRT2499153	hsa-miR-128	CLIP-seq
MIRT2499154	hsa-miR-1283	CLIP-seq
MIRT2499155	hsa-miR-1307	CLIP-seq
MIRT2499156	hsa-miR-138	CLIP-seq
MIRT2196102	hsa-miR-144	CLIP-seq
MIRT2499157	hsa-miR-149	CLIP-seq
MIRT2499158	hsa-miR-188-5p	CLIP-seq
MIRT2499159	hsa-miR-1915	CLIP-seq
MIRT2499160	hsa-miR-1976	CLIP-seq
MIRT2499161	hsa-miR-24	CLIP-seq
MIRT2499162	hsa-miR-27a	CLIP-seq
MIRT2499163	hsa-miR-27b	CLIP-seq
MIRT2499164	hsa-miR-299-3p	CLIP-seq
MIRT2499165	hsa-miR-3065-3p	CLIP-seq
MIRT1959163	hsa-miR-3120-5p	CLIP-seq
MIRT873643	hsa-miR-3121-3p	CLIP-seq
MIRT873644	hsa-miR-3135b	CLIP-seq
MIRT2499166	hsa-miR-3151	CLIP-seq
MIRT2499167	hsa-miR-3156-5p	CLIP-seq
MIRT2499168	hsa-miR-3163	CLIP-seq
MIRT2499169	hsa-miR-3199	CLIP-seq
MIRT2499170	hsa-miR-3605-5p	CLIP-seq
MIRT2499171	hsa-miR-3613-5p	CLIP-seq
MIRT873651	hsa-miR-361-3p	CLIP-seq
MIRT2499172	hsa-miR-3647-3p	CLIP-seq
MIRT2499173	hsa-miR-3650	CLIP-seq
MIRT873653	hsa-miR-3652	CLIP-seq
MIRT2499174	hsa-miR-3662	CLIP-seq
MIRT2499175	hsa-miR-3663-5p	CLIP-seq
MIRT2499176	hsa-miR-3679-5p	CLIP-seq
MIRT2499177	hsa-miR-3692	CLIP-seq
MIRT2499178	hsa-miR-3713	CLIP-seq
MIRT2499179	hsa-miR-3926	CLIP-seq
MIRT2499180	hsa-miR-4283	CLIP-seq
MIRT2196110	hsa-miR-4284	CLIP-seq
MIRT2499181	hsa-miR-4287	CLIP-seq
MIRT873656	hsa-miR-4291	CLIP-seq
MIRT2499182	hsa-miR-4292	CLIP-seq
MIRT2499183	hsa-miR-4308	CLIP-seq
MIRT2499184	hsa-miR-4310	CLIP-seq
MIRT2499185	hsa-miR-4428	CLIP-seq
MIRT873659	hsa-miR-4430	CLIP-seq
MIRT2196098	hsa-miR-4438	CLIP-seq
MIRT2499186	hsa-miR-4447	CLIP-seq
MIRT2499187	hsa-miR-4469	CLIP-seq
MIRT2499188	hsa-miR-4472	CLIP-seq
MIRT2499189	hsa-miR-4487	CLIP-seq
MIRT2499190	hsa-miR-4489	CLIP-seq
MIRT2499191	hsa-miR-4533	CLIP-seq
MIRT2499192	hsa-miR-4539	CLIP-seq
MIRT2499193	hsa-miR-4635	CLIP-seq
MIRT2499194	hsa-miR-4638-5p	CLIP-seq
MIRT2499195	hsa-miR-4645-3p	CLIP-seq
MIRT2499196	hsa-miR-4648	CLIP-seq
MIRT2499197	hsa-miR-4654	CLIP-seq
MIRT2499198	hsa-miR-4656	CLIP-seq
MIRT2499199	hsa-miR-4661-3p	CLIP-seq
MIRT2499200	hsa-miR-4668-3p	CLIP-seq
MIRT2499201	hsa-miR-4685-3p	CLIP-seq
MIRT2499202	hsa-miR-4685-5p	CLIP-seq
MIRT2499203	hsa-miR-4694-3p	CLIP-seq
MIRT873664	hsa-miR-4695-3p	CLIP-seq
MIRT873674	hsa-miR-4715-3p	CLIP-seq
MIRT2499204	hsa-miR-4724-5p	CLIP-seq
MIRT2499205	hsa-miR-4747-5p	CLIP-seq
MIRT2499206	hsa-miR-4755-3p	CLIP-seq
MIRT2499207	hsa-miR-4764-5p	CLIP-seq
MIRT2499208	hsa-miR-4769-5p	CLIP-seq
MIRT2499209	hsa-miR-4772-3p	CLIP-seq
MIRT873679	hsa-miR-4794	CLIP-seq
MIRT873668	hsa-miR-4799-5p	CLIP-seq
MIRT2499210	hsa-miR-4802-3p	CLIP-seq
MIRT2499211	hsa-miR-491-5p	CLIP-seq
MIRT2196099	hsa-miR-5095	CLIP-seq
MIRT2499212	hsa-miR-522	CLIP-seq
MIRT2499213	hsa-miR-548s	CLIP-seq
MIRT2499214	hsa-miR-552	CLIP-seq
MIRT2499215	hsa-miR-561	CLIP-seq
MIRT2499216	hsa-miR-577	CLIP-seq
MIRT2499217	hsa-miR-593	CLIP-seq
MIRT2499218	hsa-miR-601	CLIP-seq
MIRT2499219	hsa-miR-630	CLIP-seq
MIRT2499220	hsa-miR-7	CLIP-seq
MIRT2499221	hsa-miR-764	CLIP-seq
MIRT873637	hsa-miR-122	CLIP-seq
MIRT2499150	hsa-miR-1228	CLIP-seq
MIRT873638	hsa-miR-1252	CLIP-seq
MIRT2677637	hsa-miR-1266	CLIP-seq
MIRT2499153	hsa-miR-128	CLIP-seq
MIRT2677638	hsa-miR-1297	CLIP-seq
MIRT2499155	hsa-miR-1307	CLIP-seq
MIRT2499157	hsa-miR-149	CLIP-seq
MIRT2499158	hsa-miR-188-5p	CLIP-seq
MIRT2499160	hsa-miR-1976	CLIP-seq
MIRT873642	hsa-miR-214	CLIP-seq
MIRT2499161	hsa-miR-24	CLIP-seq
MIRT2677639	hsa-miR-26a	CLIP-seq
MIRT2677640	hsa-miR-26b	CLIP-seq
MIRT2499162	hsa-miR-27a	CLIP-seq
MIRT2499163	hsa-miR-27b	CLIP-seq
MIRT1959163	hsa-miR-3120-5p	CLIP-seq
MIRT873644	hsa-miR-3135b	CLIP-seq
MIRT2677641	hsa-miR-3154	CLIP-seq
MIRT873646	hsa-miR-3194-3p	CLIP-seq
MIRT2499169	hsa-miR-3199	CLIP-seq
MIRT2499171	hsa-miR-3613-5p	CLIP-seq
MIRT873651	hsa-miR-361-3p	CLIP-seq
MIRT873652	hsa-miR-3619-5p	CLIP-seq
MIRT2499172	hsa-miR-3647-3p	CLIP-seq
MIRT873653	hsa-miR-3652	CLIP-seq
MIRT2499175	hsa-miR-3663-5p	CLIP-seq
MIRT739427	hsa-miR-3664-3p	CLIP-seq
MIRT2499177	hsa-miR-3692	CLIP-seq
MIRT2499178	hsa-miR-3713	CLIP-seq
MIRT873654	hsa-miR-3920	CLIP-seq
MIRT2499179	hsa-miR-3926	CLIP-seq
MIRT873655	hsa-miR-4274	CLIP-seq
MIRT2677642	hsa-miR-4279	CLIP-seq
MIRT2196110	hsa-miR-4284	CLIP-seq
MIRT2499181	hsa-miR-4287	CLIP-seq
MIRT873656	hsa-miR-4291	CLIP-seq
MIRT2499182	hsa-miR-4292	CLIP-seq
MIRT2499183	hsa-miR-4308	CLIP-seq
MIRT873659	hsa-miR-4430	CLIP-seq
MIRT2196098	hsa-miR-4438	CLIP-seq
MIRT2677643	hsa-miR-4465	CLIP-seq
MIRT2499187	hsa-miR-4469	CLIP-seq
MIRT2677644	hsa-miR-4518	CLIP-seq
MIRT2499192	hsa-miR-4539	CLIP-seq
MIRT2499193	hsa-miR-4635	CLIP-seq
MIRT2499194	hsa-miR-4638-5p	CLIP-seq
MIRT2499199	hsa-miR-4661-3p	CLIP-seq
MIRT2499200	hsa-miR-4668-3p	CLIP-seq
MIRT2499201	hsa-miR-4685-3p	CLIP-seq
MIRT873664	hsa-miR-4695-3p	CLIP-seq
MIRT873674	hsa-miR-4715-3p	CLIP-seq
MIRT2499204	hsa-miR-4724-5p	CLIP-seq
MIRT2499206	hsa-miR-4755-3p	CLIP-seq
MIRT2499209	hsa-miR-4772-3p	CLIP-seq
MIRT873667	hsa-miR-4789-3p	CLIP-seq
MIRT873679	hsa-miR-4794	CLIP-seq
MIRT873668	hsa-miR-4799-5p	CLIP-seq
MIRT2196099	hsa-miR-5095	CLIP-seq
MIRT2499213	hsa-miR-548s	CLIP-seq
MIRT2499214	hsa-miR-552	CLIP-seq
MIRT2499215	hsa-miR-561	CLIP-seq
MIRT2499216	hsa-miR-577	CLIP-seq
MIRT2499217	hsa-miR-593	CLIP-seq
MIRT2499218	hsa-miR-601	CLIP-seq
MIRT2677645	hsa-miR-642b	CLIP-seq
MIRT873672	hsa-miR-761	CLIP-seq
MIRT2499221	hsa-miR-764	CLIP-seq
MIRT873673	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001942	Process	Hair follicle development	IEA
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0009986	Component	Cell surface	HDA	19581412
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0016020	Component	Membrane	IEA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	16754747
GO:0031092	Component	Platelet alpha granule membrane	TAS
GO:0043616	Process	Keratinocyte proliferation	IEA
GO:0045616	Process	Regulation of keratinocyte differentiation	IEA
GO:0061045	Process	Negative regulation of wound healing	IDA	16754747
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072675	Process	Osteoclast fusion	IEA
GO:0098552	Component	Side of membrane	IEA
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

Other IDs

• MIM: 608859
• HGNC: 21685
• e!Ensembl: ENSG00000156535

Protein

• UniProt ID: Q6YHK3
• Protein name: CD109 antigen (150 kDa TGF-beta-1-binding protein) (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7) (Platelet-specific Gov antigen) (p180) (r150) (CD antigen CD109)
• Protein function: Modulates negatively TGFB1 signaling in keratinocytes.
• PDB: 8S3O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01835	MG2	130 → 221	MG2 domain	Domain
  PF17791	MG3	223 → 302	Macroglobulin domain MG3	Domain
  PF07703	A2M_BRD	468 → 599	Alpha-2-macroglobulin bait region domain	Domain
  PF00207	A2M	693 → 784	Alpha-2-macroglobulin family	Family
  PF07678	TED_complement	897 → 1194	A-macroglobulin TED domain	Domain
  PF07677	A2M_recep	1311 → 1395	A-macroglobulin receptor binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with high level in uterus, aorta, heart, lung, trachea, placenta and in fetal heart, kidney, liver, spleen and lung. Expressed by CD34(+) acute myeloid leukemia cell lines, T-cell lines, activated T-lymphoblasts, endot
• Sequence:

  MQGPPLLTAAHLLCVCTAALAVAPGPRFLVTAPGIIRPGGNVTIGVELLEHCPSQVTVKA
  ELLKTASNLTVSVLEAEGVFEKGSFKTLTLPSLPLNSADEIYELRVTGRTQDEILFSNST
  RLSFETKRISVFIQTDKALYKPKQEVKFRIVTLFSDFKPYKTSLNILIKDPKSNLIQQWL
  SQQSDLGVISKTFQLSSHPILGDWSIQVQVNDQTYYQSFQVSEYVLPKFEVTLQTPLYCS
  MNSKHLNGTITAKYTYGKPVKGDVTLTFLPLSFWGKKKNITKTFKINGSANFSFNDEEMK
  NVMDSSNGLSEYLDLSSPGPVEILTTVTESVTGISRNVSTNVFFKQHDYIIEFFDYTTVL
  KPSLNFTATVKVTRADGNQLTLEERRNNVVITVTQRNYTEYWSGSNSGNQKMEAVQKINY
  TVPQSGTFKIEFPILEDSSELQLKAYFLGSKSSMAVHSLFKSPSKTYIQLKTRDENIKVG
  SPFELVVSGNKRLKELSYMVVSRGQLVAVGKQNSTMFSLTPENSWTPKACVIVYYIEDDG
  EIISDVLKIPVQLVFKNKIKLYWSKVKAEPSEKVSLRISVTQPDSIVGIVAVDKSVNLMN
  ASNDITMENVVHELELYNTGYYLGMFMNSFAVFQECGLWVLTDANLTKDYIDGVYDNAEY
  AERFMEENEGHIVDIHDFSLGSSPHVRKHFPETWIWLDTNMGYRIYQEFEVTVPDSITSW
  VATGFVISEDLGLGLTTTPVELQAFQPFFIFLNLPYSVIRGEEFALEITIFNYLKDATEV
  KVIIEKSDKFDILMTSNEINATGHQQTLLVPSEDGATVLFPIRPTHLGEIPITVTALSPT
  ASDAVTQMILVKAEGIEKSYSQSILLDLTDNRLQSTLKTLSFSFPPNTVTGSERVQITAI
  GDVLGPSINGLASLIRMPYGCGEQNMINFAPNIYILDYLTKKKQLTDNLKEKALSFMRQG
  YQRELLYQREDGSFSAFGNYDPSGSTWLSAFVLRCFLEADPYIDIDQNVLHRTYTWLKGH
  QKSNGEFWDPGRVIHSELQGGNKSPVTLTAYIVTSLLGYRKYQPNIDVQESIHFLESEFS
  RGISDNYTLALITYALSSVGSPKAKEALNMLTWRAEQEGGMQFWVSSESKLSDSWQPRSL
  DIEVAAYALLSHFLQFQTSEGIPIMRWLSRQRNSLGGFASTQDTTVALKALSEFAALMNT
  ERTNIQVTVTGPSSPSPVKFLIDTHNRLLLQTAELAVVQPTAVNISANGFGFAICQLNVV
  YNVKASGSSRRRRSIQNQEAFDLDVAVKENKDDLNHVDLNVCTSFSGPGRSGMALMEVNL
  LSGFMVPSEAISLSETVKKVEYDHGKLNLYLDSVNETQFCVNIPAVRNFKVSNTQDASVS
  IVDYYEPRRQAVRSYNSEVKLSSCDLCSDVQGCRPCEDGASGSHHHSSVIFIFCFKLLYF
  MELWL

• Sequence length: 1445

Pathways

Reactome:

Platelet degranulation
Post-translational modification: synthesis of GPI-anchored proteins

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	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR TELANGIECTASIA TYPE 2	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	15826242, 17493171, 31219232		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	29731998		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	28032275		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29505099		★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	29100095	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	33469081	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20035377, 25149155, 25506915	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	19016750	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15116102, 17493171		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28191885		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36907523	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19016750	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26249215, 31695056	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	29100095	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	16959974		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18507500, 21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18507500, 21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21278247, 23975090	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	BEFREE	29767469		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29100095	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28032275		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	17493171		★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	19016750	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	15826242		★☆☆☆☆ Found in Text Mining only
Fetal and neonatal alloimmune thrombocytopenia	Alloimmune Thrombocytopenia	Orphanet			★☆☆☆☆ Found in Text Mining only
FNAITP	Fetal and neonatal alloimmune thrombocytopenia	BEFREE	15752154		★☆☆☆☆ Found in Text Mining only
FNAITP	Fetal and neonatal alloimmune thrombocytopenia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	11738352		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25506915, 25724945, 29282720, 30759398		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25506915, 30759398	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25506915, 25724945, 29282720, 30759398		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28888050, 29282720		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37056564	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	28032275		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25149155	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29767469		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31015209	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27074923		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	29282720		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28191885		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29731998		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28676103		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15116102, 24376795, 25506915, 28676103, 29731998		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	29449896, 30366467		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	33469081	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	19016750	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	19016750	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	15116102		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11738352		★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Alloimmune Thrombocytopenia	Alloimmune Thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24400073, 25506915, 28032275, 28888050, 29113239, 29282720, 29731998, 30759398, 31695056		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29767469, 31219232		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	2188094		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37030166	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29731998		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36907523	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28676103		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31455659		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24376795		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	24376795	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma, Epithelioid	Sarcoma	BEFREE	24376795		★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	15116102, 15826242, 24400073, 29221155, 29625613, 31219232, 31695056		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15826242, 17922683		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29113239		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30702489	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytopenia Neonatal Alloimmune	Thrombocytopenia	Pubtator	11861285	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25149155	Stimulate	★☆☆☆☆ Found in Text Mining only