ACVR1C activin A receptor type 1C
Gene ID: 130399, updated on 18-Sep-2024Gene type: protein coding
Also known as: ALK7; ACVRLK7
- See all available tests in GTR for this gene
- Go to complete Gene record for ACVR1C
- Go to Variation Viewer for ACVR1C variants
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 complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
Genomic context
- Location:
- 2q24.1
- Sequence:
- Chromosome: 2; NC_000002.12 (157526767..157628864, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ACVR1C variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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