help  | about  | cite  | software

Gene : PAM16 Homo sapiens

Name  ? presequence translocase associated motor 16 Cytological Location  16p13.3
Brief Description  presequence translocase associated motor 16
description  This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017]
  • synonyms:
  • TIMM16,
  • CGI-136,
  • mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction,
  • NM_016069,
  • TIM16,
  • TIMM16,
  • HGNC:29679,
  • uc059qdf.1,
  • presequence translocase-associated motor 16 homolog (S. cerevisiae),
  • Magmas,
  • OTTHUMG00000129466,
  • PAM16,
  • Tim16,
  • presequence translocase associated motor 16 homolog,
  • AK026514,
  • identifiers:
  • 51025,
  • ENSG00000217930,
  • PAM16

Genome feature

Region: gene ? Length: 11071  
Location: 16:4340251-4351321 reverse strand Cyto location: 16p13.3

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


Homologue Displayer

Gene --> Orthologues


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



3756 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results