PAM16 (presequence translocase associated motor 16)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51025
Gene name Gene Name - the full gene name approved by the HGNC.
Presequence translocase associated motor 16
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PAM16
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-136, MAGMAS, SMDMDM, TIM16, TIMM16
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 impo
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT020614 hsa-miR-155-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0001405 Component PAM complex, Tim23 associated import motor IEA
GO:0001405 Component PAM complex, Tim23 associated import motor IGI 20053669
GO:0001405 Component PAM complex, Tim23 associated import motor ISS
GO:0001503 Process Ossification IMP 24786642
GO:0005515 Function Protein binding IPI 19564938, 20053669, 23263864, 25416956, 32296183, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614336 29679 ENSG00000217930
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9Y3D7
Protein name Mitochondrial import inner membrane translocase subunit TIM16 (Mitochondria-associated granulocyte macrophage CSF-signaling molecule) (Presequence translocated-associated motor subunit PAM16)
Protein function Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03656 Pam16 1 → 125 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:15704001}.
Sequence
Sequence length 125
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spondylometaphyseal Dysplasia Autosomal recessive spondylometaphyseal dysplasia, Megarbane type rs786203989, rs1596247721 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathy Dilated Associate 20053669
Neoplasms Associate 25165880
Prostatitis Stimulate 20053669