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Gene : ACVR1C Homo sapiens

Name  ? activin A receptor type 1C Cytological Location  2q24.1
Brief Description  activin A receptor type 1C
description  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]
  • synonyms:
  • ACVRLK7,
  • activin A receptor, type IC,
  • ACVRLK7,
  • ALK7,
  • uc002tzk.5,
  • ALK7,
  • NM_145259,
  • OTTHUMG00000131964,
  • ACVR1C,
  • HGNC:18123,
  • BC022530
  • identifiers:
  • 130399,
  • ENSG00000123612,
  • ACVR1C

Genome feature

Region: gene ? Length: 102121  
Location: 2:157526767-157628887 reverse strand Cyto location: 2q24.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

168 SN Ps

5 Cross References

16 Data Sets

15 Homologues

0 Located Features

90 Rna Seq Results