SLC39A12 (solute carrier family 39 member 12)

Gene

• Entrez ID: 221074
• Gene name: Solute carrier family 39 member 12
• Gene symbol: SLC39A12
• Synonyms (NCBI Gene): LZT-Hs8, ZIP-12, ZIP12, bA570F3.1
• Chromosome: 10
• Chromosome location: 10p12.33
• Summary: Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019023	hsa-miR-335-5p	Microarray	18185580
MIRT1363199	hsa-miR-2681	CLIP-seq
MIRT1363200	hsa-miR-3978	CLIP-seq
MIRT1363201	hsa-miR-4261	CLIP-seq
MIRT1363202	hsa-miR-4694-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001841	Process	Neural tube formation	ISS
GO:0005385	Function	Zinc ion transmembrane transporter activity	IBA
GO:0005385	Function	Zinc ion transmembrane transporter activity	IEA
GO:0005385	Function	Zinc ion transmembrane transporter activity	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006829	Process	Zinc ion transport	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0015701	Process	Bicarbonate transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0030001	Process	Metal ion transport	IEA
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IBA
GO:0031113	Process	Regulation of microtubule polymerization	IEA
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071578	Process	Zinc ion import across plasma membrane	IBA
GO:0071578	Process	Zinc ion import across plasma membrane	IEA
GO:0071578	Process	Zinc ion import across plasma membrane	ISS
GO:0140410	Function	Monoatomic cation:bicarbonate symporter activity	IBA
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1990138	Process	Neuron projection extension	ISS

Other IDs

• MIM: 608734
• HGNC: 20860
• e!Ensembl: ENSG00000148482

Protein

• UniProt ID: Q504Y0
• Protein name: Zinc transporter ZIP12 (LIV-1 subfamily of ZIP zinc transporter 8) (LZT-Hs8) (Solute carrier family 39 member 12) (Zrt- and Irt-like protein 12) (ZIP-12)
• Protein function: Uniporter that promotes Zn(2+) import from the extracellular space to the cytoplasm across the cell membrane. The transport activity is temperature dependent. May play a role in neurulation and neurite extension. May play a key role in maintaini
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18292	ZIP4_domain	63 → 222	Zinc transporter ZIP4 domain	Domain
  PF02535	Zip	364 → 683	ZIP Zinc transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain and eye. {ECO:0000269|PubMed:12107410, ECO:0000269|PubMed:15342556}.
• Sequence:

  MCFRTKLSVSWVPLFLLLSRVFSTETDKPSAQDSRSRGSSGQPADLLQVLSAGDHPPHNH
  SRSLIKTLLEKTGCPRRRNGMQGDCNLCFEPDALLLIAGGNFEDQLREEVVQRVSLLLLY
  YIIHQEEICSSKLNMSNKEYKFYLHSLLSLRQDEDSSFLSQNETEDILAFTRQYFDTSQS
  QCMETKTLQKKSGIVSSEGANESTLPQLAAMIITLSLQGVCLGQGNLPSPDYFTEYIFSS
  LNRTNTLRLSELDQLLNTLWTRSTCIKNEKIHQFQRKQNNIITHDQDYSNFSSSMEKESE
  DGPVSWDQTCFSARQLVEIFLQKGLSLISKEDFKQMSPGIIQQLLSCSCHLPKDQQAKLP
  PTTLEKYGYSTVAVTLLTLGSMLGTALVLFHSCEENYRLILQLFVGLAVGTLSGDALLHL
  IPQVLGLHKQEAPEFGHFHESKGHIWKLMGLIGGIHGFFLIEKCFILLVSPNDKQGLSLV
  NGHVGHSHHLALNSELSDQAGRGKSASTIQLKSPEDSQAAEMPIGSMTASNRKCKAISLL
  AIMILVGDSLHNFADGLAIGAAFSSSSESGVTTTIAILCHEIPHEMGDFAVLLSSGLSMK
  TAILMNFISSLTAFMGLYIGLSVSADPCVQDWIFTVTAGMFLYLSLVEMLPEMTHVQTQR
  PWMMFLLQNFGLILGWLSLLLLAIYEQNIKI

• Sequence length: 691

Pathways

KEGG:

Alzheimer disease
Parkinson disease

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	32744318	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29431830		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	35486108	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	26258299, 29431830		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Degeneration	Retinal degeneration	Pubtator	35486108	Associate	★☆☆☆☆ Found in Text Mining only