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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	130399
Gene name	Activin A receptor type 1C
Gene symbol	ACVR1C
Synonyms (NCBI Gene)	ACVRLK7ALK7
Chromosome	2
Chromosome location	2q24.1
Summary	ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005775	hsa-miR-376c-3p	Luciferase reporter assayWestern blot	21224400
MIRT005775	hsa-miR-376c-3p	Luciferase reporter assayWestern blot	21224400
MIRT005775	hsa-miR-376c-3p	Luciferase reporter assayWestern blot	21224400
MIRT005775	hsa-miR-376c-3p	Luciferase reporter assayWestern blot	21224400
MIRT005776	hsa-miR-376a-3p	Luciferase reporter assay	21224400
MIRT005777	hsa-miR-376a-5p	Luciferase reporter assay	21224400
MIRT005778	hsa-miR-376b-3p	Luciferase reporter assay	21224400
MIRT005779	hsa-miR-22-3p	Luciferase reporter assayWestern blot	21224400
MIRT005775	hsa-miR-376c-3p	Luciferase reporter assay	21224400
MIRT005780	hsa-miR-412-3p	Luciferase reporter assay	21224400
MIRT005781	hsa-miR-147a	Luciferase reporter assay	21224400
MIRT005781	hsa-miR-147a	Luciferase reporter assay	21224400
MIRT005782	hsa-miR-122-5p	Luciferase reporter assay	21224400
MIRT005780	hsa-miR-412-3p	Reporter assay	21224400
MIRT005778	hsa-miR-376b-3p	Reporter assay;Western blot	21224400
MIRT005776	hsa-miR-376a-3p	Reporter assay;Western blot	21224400
MIRT005777	hsa-miR-376a-5p	Reporter assay;Western blot	21224400
MIRT005775	hsa-miR-376c-3p	Reporter assay;Western blot;qRT-PCR	21224400
MIRT005782	hsa-miR-122-5p	Reporter assay	21224400
MIRT005781	hsa-miR-147a	Reporter assay	21224400
MIRT005779	hsa-miR-22-3p	Reporter assay;Western blot	21224400
MIRT005775	hsa-miR-376c-3p	Luciferase reporter assayqRT-PCRWestern blot	23424236
MIRT005775	hsa-miR-376c-3p	Luciferase reporter assayqRT-PCRWestern blot	23424236
MIRT539489	hsa-miR-323a-3p	PAR-CLIP	22012620
MIRT539488	hsa-miR-4699-3p	PAR-CLIP	22012620
MIRT539487	hsa-miR-8063	PAR-CLIP	22012620
MIRT539486	hsa-miR-4698	PAR-CLIP	22012620
MIRT539485	hsa-miR-4639-3p	PAR-CLIP	22012620
MIRT539484	hsa-miR-676-5p	PAR-CLIP	22012620
MIRT539483	hsa-miR-6837-3p	PAR-CLIP	22012620
MIRT539482	hsa-miR-3682-5p	PAR-CLIP	22012620
MIRT539481	hsa-miR-6794-3p	PAR-CLIP	22012620
MIRT735689	hsa-miR-548c-3p	Western blottingImmunofluorescenceqRT-PCR	33114016
MIRT539489	hsa-miR-323a-3p	PAR-CLIP	22012620
MIRT539488	hsa-miR-4699-3p	PAR-CLIP	22012620
MIRT539487	hsa-miR-8063	PAR-CLIP	22012620
MIRT539486	hsa-miR-4698	PAR-CLIP	22012620
MIRT539485	hsa-miR-4639-3p	PAR-CLIP	22012620
MIRT539484	hsa-miR-676-5p	PAR-CLIP	22012620
MIRT539483	hsa-miR-6837-3p	PAR-CLIP	22012620
MIRT539482	hsa-miR-3682-5p	PAR-CLIP	22012620
MIRT539481	hsa-miR-6794-3p	PAR-CLIP	22012620
MIRT765043	hsa-let-7a	CLIP-seq
MIRT765044	hsa-let-7b	CLIP-seq
MIRT765045	hsa-let-7c	CLIP-seq
MIRT765046	hsa-let-7d	CLIP-seq
MIRT765047	hsa-let-7e	CLIP-seq
MIRT765048	hsa-let-7f	CLIP-seq
MIRT765049	hsa-let-7g	CLIP-seq
MIRT765050	hsa-let-7i	CLIP-seq
MIRT765051	hsa-miR-1179	CLIP-seq
MIRT765052	hsa-miR-1245b-3p	CLIP-seq
MIRT765053	hsa-miR-1283	CLIP-seq
MIRT765054	hsa-miR-1290	CLIP-seq
MIRT765055	hsa-miR-1304	CLIP-seq
MIRT765056	hsa-miR-137	CLIP-seq
MIRT765057	hsa-miR-202	CLIP-seq
MIRT765058	hsa-miR-217	CLIP-seq
MIRT765059	hsa-miR-218	CLIP-seq
MIRT765060	hsa-miR-3129-3p	CLIP-seq
MIRT765061	hsa-miR-3148	CLIP-seq
MIRT765062	hsa-miR-3167	CLIP-seq
MIRT765063	hsa-miR-3184	CLIP-seq
MIRT765064	hsa-miR-3185	CLIP-seq
MIRT765065	hsa-miR-337-3p	CLIP-seq
MIRT765066	hsa-miR-3613-3p	CLIP-seq
MIRT765067	hsa-miR-376c	CLIP-seq
MIRT765068	hsa-miR-3927	CLIP-seq
MIRT765069	hsa-miR-3940-3p	CLIP-seq
MIRT765070	hsa-miR-3942-3p	CLIP-seq
MIRT765071	hsa-miR-423-5p	CLIP-seq
MIRT765072	hsa-miR-4263	CLIP-seq
MIRT765073	hsa-miR-4418	CLIP-seq
MIRT765074	hsa-miR-4458	CLIP-seq
MIRT765075	hsa-miR-4500	CLIP-seq
MIRT765076	hsa-miR-452	CLIP-seq
MIRT765077	hsa-miR-4521	CLIP-seq
MIRT765078	hsa-miR-4650-3p	CLIP-seq
MIRT765079	hsa-miR-4653-3p	CLIP-seq
MIRT765080	hsa-miR-4668-5p	CLIP-seq
MIRT765081	hsa-miR-4676-3p	CLIP-seq
MIRT765082	hsa-miR-4693-5p	CLIP-seq
MIRT765083	hsa-miR-4735-5p	CLIP-seq
MIRT765084	hsa-miR-4738-3p	CLIP-seq
MIRT765085	hsa-miR-4768-3p	CLIP-seq
MIRT765086	hsa-miR-4773	CLIP-seq
MIRT765087	hsa-miR-4775	CLIP-seq
MIRT765088	hsa-miR-487a	CLIP-seq
MIRT765089	hsa-miR-509-3-5p	CLIP-seq
MIRT765090	hsa-miR-509-5p	CLIP-seq
MIRT765091	hsa-miR-539	CLIP-seq
MIRT765092	hsa-miR-582-5p	CLIP-seq
MIRT765093	hsa-miR-590-3p	CLIP-seq
MIRT765094	hsa-miR-636	CLIP-seq
MIRT765095	hsa-miR-876-5p	CLIP-seq
MIRT765096	hsa-miR-98	CLIP-seq
MIRT765072	hsa-miR-4263	CLIP-seq
MIRT765076	hsa-miR-452	CLIP-seq
MIRT765077	hsa-miR-4521	CLIP-seq
MIRT765079	hsa-miR-4653-3p	CLIP-seq
MIRT765081	hsa-miR-4676-3p	CLIP-seq
MIRT765082	hsa-miR-4693-5p	CLIP-seq
MIRT765086	hsa-miR-4773	CLIP-seq
MIRT1545064	hsa-miR-3609	CLIP-seq
MIRT1545065	hsa-miR-548ah	CLIP-seq
MIRT1545066	hsa-miR-605	CLIP-seq
MIRT1925394	hsa-miR-2052	CLIP-seq
MIRT1925395	hsa-miR-2054	CLIP-seq
MIRT1925396	hsa-miR-4517	CLIP-seq
MIRT1925397	hsa-miR-5096	CLIP-seq
MIRT765086	hsa-miR-4773	CLIP-seq
MIRT2443109	hsa-miR-155	CLIP-seq
MIRT2443110	hsa-miR-2116	CLIP-seq
MIRT765076	hsa-miR-452	CLIP-seq
MIRT765081	hsa-miR-4676-3p	CLIP-seq
MIRT2443111	hsa-miR-4793-5p	CLIP-seq
MIRT1925397	hsa-miR-5096	CLIP-seq
MIRT2443112	hsa-miR-570	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001834	Process	Trophectodermal cell proliferation	IDA	15150278
GO:0002021	Process	Response to dietary excess	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IC	15531507
GO:0005886	Component	Plasma membrane	TAS
GO:0006468	Process	Protein phosphorylation	IC	12063393
GO:0006915	Process	Apoptotic process	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0009749	Process	Response to glucose	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016361	Function	Activin receptor activity, type I	IBA
GO:0016361	Function	Activin receptor activity, type I	IDA	12063393
GO:0016740	Function	Transferase activity	IEA
GO:0017002	Function	Activin receptor activity	IDA	15150278
GO:0019838	Function	Growth factor binding	IPI	21805089
GO:0019915	Process	Lipid storage	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030154	Process	Cell differentiation	IDA	15531507
GO:0030262	Process	Apoptotic nuclear changes	IDA	15531507
GO:0030334	Process	Regulation of cell migration	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032924	Process	Activin receptor signaling pathway	IBA
GO:0032924	Process	Activin receptor signaling pathway	IMP	15150278
GO:0038092	Process	Nodal signaling pathway	IMP	15150278
GO:0038100	Function	Nodal binding	IMP	21356369
GO:0043065	Process	Positive regulation of apoptotic process	IDA	15150278
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046872	Function	Metal ion binding	IC	12063393
GO:0046872	Function	Metal ion binding	IEA
GO:0048179	Component	Activin receptor complex	IBA
GO:0048179	Component	Activin receptor complex	IDA	15531507
GO:0051239	Process	Regulation of multicellular organismal process	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IBA
GO:0097190	Process	Apoptotic signaling pathway	IMP	15150278
GO:0141091	Process	Transforming growth factor beta receptor superfamily signaling pathway	IEA
GO:1901164	Process	Negative regulation of trophoblast cell migration	IDA	21356369
GO:1901383	Process	Negative regulation of chorionic trophoblast cell proliferation	IMP	15150278
GO:1902554	Component	Serine/threonine protein kinase complex	IEA

MIM	HGNC	e!Ensembl
608981	18123	ENSG00000123612

Q8NER5

Protein name

Activin receptor type-1C (EC 2.7.11.30) (Activin receptor type IC) (ACTR-IC) (Activin receptor-like kinase 7) (ALK-7)

Protein function

Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consists of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01064	Activin_recp	26 → 96	Activin types I and II receptor domain	Domain
PF08515	TGF_beta_GS	166 → 193	Transforming growth factor beta type I GS-motif	Family
PF07714	PK_Tyr_Ser-Thr	195 → 482	Protein tyrosine and serine/threonine kinase	Domain

Tissue specificity

TISSUE SPECIFICITY: Present in pancreas, heart, colon, small intestine, ovary and the hippocampus, medulla oblongata and putamen of the brain. Isoform 1, isoform 2, isoform 3 and isoform 4 are all expressed in the placenta throughout pregnancy. {ECO:00002

Sequence

MTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVI
KSCVSLPELNAQVFCHSSNNVTKTECCFTDFCNNITLHLPTASPNAPKLGPMELAIIITV
PVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTASGSG
SGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQ
TVMLRHENILGFIAADNKDNGTWTQLWLVSEYHEQGSLYDYLNRNIVTVAGMIKLALSIA
SGLAHLHMEIVGTQGKPAIAHRDIKSKNILVKKCETCAIADLGLAVKHDSILNTIDIPQN
PKVGTKRYMAPEMLDDTMNVNIFESFKRADIYSVGLVYWEIARRCSVGGIVEEYQLPYYD
MVPSDPSIEEMRKVVCDQKFRPSIPNQWQSCEALRVMGRIMRECWYANGAARLTALRIKK
TISQLCVKEDCKA

Sequence length

493

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Signaling pathways regulating pluripotency of stem cells		Signaling by Activin

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 (10)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ACVR1C-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ 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
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31489365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22086737, 28668833, 31063757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28668833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	16603637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16603637, 21224400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22086737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23765385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34875679	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33114016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36199821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30389748	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30389748	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30389748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	31608496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36199821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31608496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	16603637, 21224400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	22086737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36124685	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	36403856	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35729773	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	22086737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22086737, 28668833, 31063757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21224400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16603637, 28668833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	19275893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	19275893	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	23765385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23765385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis	Pubtator	26966495	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	29367682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34424090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22086737, 28668833, 30401983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	22086737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19275893, 25161195, 29945891		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19275893	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18784254		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21224400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18784254	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	30012586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30401983, 31451106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	30401983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	23765385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ACVR1C (activin A receptor type 1C)