• Gene id: 84681

Gene Summary

• Gene Symbol: HINT2   Gene   UCSC   Ensembl
• Aliases: HIT-17
• Gene name: histidine triad nucleotide binding protein 2
• Alternate names: histidine triad nucleotide-binding protein 2, mitochondrial, HINT-2, HINT-3, HIT-17kDa, PKCI-1-related HIT protein, protein kinase C inhibitor-2,
• Gene location: 9p13.3 (35815478: 35812959)     Exons: 6     NC_000009.12
• Gene summary(Entrez): Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]
• OMIM: 609997

Protein Summary

• Protein general information: Q9BX68  
  • Name: Histidine triad nucleotide binding protein 2, mitochondrial (HINT 2) (EC 3. . . ) (HINT 3) (HIT 17kDa) (PKCI 1 related HIT protein)
  • Length: 163  
  • Mass: 17162
  • Tissue specificity: High expression in liver and pancreas. Expression is significantly down-regulated in hepatocellular carcinoma (HCC) patients. {ECO
• Sequence:

  MAAAVVLAAGLRAARRAVAATGVRGGQVRGAAGVTDGNEVAKAQQATPGGAAPTIFSRILDKSLPADILYEDQQC
  LVFRDVAPQAPVHFLVIPKKPIPRISQAEEEDQQLLGHLLLVAKQTAKAEGLGDGYRLVINDGKLGAQSVYHLHI
  HVLGGRQLQWPPG

• Structural information:
  • Protein Domains: (55..16-)
    (/note="HIT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00464"-)
  • Interpro: IPR019808  IPR001310  IPR011146  IPR036265  
  • Prosite: PS00892 PS51084
  • PDB: 4INC 4INI 4NJX 4NJY 4NJZ 4NK0 5KM5 5KM8 5KM9
  • PDBsum: 4INC 4INI 4NJX 4NJY 4NJZ 4NK0 5KM5 5KM8 5KM9
  • STRING: ENSP00000259667
• Other Databases: GeneCards:  HINT2  Malacards:  HINT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016787	hydrolase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:2000757	negative regulation of peptidyl-lysine acetylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005739	mitochondrion	ISS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray