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Gene : CARMIL2 Homo sapiens

Name  ? capping protein regulator and myosin 1 linker 2 Cytological Location  16q22.1
Brief Description  capping protein regulator and myosin 1 linker 2
Description  This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]
  • synonyms:
  • AB113647,
  • leucine rich repeat containing 16C,
  • CARMIL2,
  • IMD58,
  • RLTPR,
  • OTTHUMG00000184043,
  • RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing,
  • NM_001013838,
  • RLTPR,
  • LRRC16C,
  • CARMIL2b,
  • uc002etn.4,
  • HGNC:27089,
  • LRRC16C,
  • RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein
  • identifiers:
  • 146206,
  • ENSG00000159753,
  • CARMIL2

Genome feature

Region: gene ? Length: 12566  
Location: 16:67645004-67657569 Cyto location: 16q22.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

84 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results