• Gene id: 401474

Gene Summary

• Gene Symbol: SAMD12   Gene   UCSC   Ensembl
• Gene name: sterile alpha motif domain containing 12
• Alternate names: sterile alpha motif domain-containing protein 12, SAM domain-containing protein 12,
• Gene location: 8q24.11-q24.12 (118621962: 118131824)     Exons: 9     NC_000008.11
• OMIM: 618073

Protein Summary

• Protein general information: Q8N8I0  
  • Name: Sterile alpha motif domain containing protein 12 (SAM domain containing protein 12)
  • Length: 201  
  • Mass: 22907
  • Tissue specificity: Expressed in the brain. {ECO
• Sequence:

  MAVEALHCGLNPRGIDHPAHAEGIKLQIEGEGVESQSIKNKNFQKVPDQKGTPKRLQAEAETAKSATVKLSKPVA
  LWTQQDVCKWLKKHCPNQYQIYSESFKQHDITGRALLRLTDKKLERMGIAQENLRQHILQQVLQLKVREEVRNLQ
  LLTQGTLLLPDGWMDGEIRRKTTLLLGQTGVRENLLLFLHRISIIENSIQI

• Structural information:
  • Protein Domains: (77..14-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR039144  IPR001660  IPR013761  
  • Prosite: PS50105
  • CDD: cd09510
  • STRING: ENSP00000314173
• Other Databases: GeneCards:  SAMD12  Malacards:  SAMD12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Familial adult myoclonic epilepsy	KEGG:H02213
Familial adult myoclonic epilepsy	KEGG:H02213
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)