• Gene id: 741

Gene Summary

• Gene Symbol: ZNHIT2   Gene   UCSC   Ensembl
• Aliases: C11orf5, FON
• Gene name: zinc finger HIT-type containing 2
• Alternate names: zinc finger HIT domain-containing protein 2, zinc finger, HIT domain containing 2, zinc finger, HIT type 2,
• Gene location: 11q13.1 (65117700: 65116402)     Exons: 1     NC_000011.10
• OMIM: 607029

SNPs

rs16891278

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42401679A>G
NC_000008.11   g.42401679A>T
NC_000008.10   g.42259197A>G
NC_000008.10   g.42259197A>T|SEQ=[A/G/T]|GENE=VDAC3

rs7896741

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.75219460G>C
NC_000010.10   g.76979218G>C|SEQ=[G/C]|GENE=VDAC2

rs7004637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs2804535

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.75212086C>A
NC_000010.11   g.75212086C>G
NC_000010.11   g.75212086C>T
NC_000010.10   g.76971844C>A
NC_000010.10   g.76971844C>G
NC_000010.10   g.76971844C>T|SEQ=[C/A/G/T]|GENE=VDAC2

rs6773

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42405639T>C
NC_000008.10   g.42263157T>C
NM_005662.7   c.*177T>C
NM_005662.6   c.*177T>C
NM_001135694.2   c.*177T>C
XM_006716394.1   c.*177T>C|SEQ=[T/C]|GENE=VDAC3

rs11001334

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.75229537C>T
NC_000010.10   g.76989295C>T|SEQ=[C/T]|GENE=VDAC2

rs11857513

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.50497226G>A
NC_000015.10   g.50497226G>C
NC_000015.9   g.50789423G>A
NC_000015.9   g.50789423G>C
NG_047101.1   g.77850G>A
NG_047101.1   g.77850G>C
NM_001128610.2   c.3033G>A
NM_001128610.2   c.3033G>C
NM_001128610.3   c.3033G>A
NM_001128610.3   c.3033G>

Protein Summary

• Protein general information: Q9UHR6  
  • Name: Zinc finger HIT domain containing protein 2 (Protein FON)
  • Length: 403  
  • Mass: 42884
  • Tissue specificity: Low expression in most tissues; highly expressed in testis. {ECO
• Sequence:

  MEPAGPCGFCPAGEVQPARYTCPRCNAPYCSLRCYRTHGTCAENFYRDQVLGELRGCSAPPSRLASALRRLRQQR
  ETEDEPGEAGLSSGPAPGGLSGLWERLAPGEKAAFERLLSRGEAGRLLPPWRPWWWNRGAGPQLLEELDNAPGSD
  AAELELAPARTPPDSVKDASAAEPAAAERVLGDVPGACTPVVPTRIPAIVSLSRGPVSPLVRFQLPNVLFAYAHT
  LALYHGGDDALLSDFCATLLGVSGALGAQQVFASAEEALQAAAHVLEAGEHPPGPLGTRGAMHEVARILLGEGPT
  NQKGYTLAALGDLAQTLGRARKQAVAREERDHLYRARKKCQFLLAWTNENEAALTPLALDCARAHQAHAVVAEEV
  AALTGELERLWGGPVPPAPRTLIEELPS

• Structural information:
  • Interpro: IPR007529  IPR039646  
  • Prosite: PS51083
  • PDB: 1X4S
  • PDBsum: 1X4S
  • STRING: ENSP00000308548
• Other Databases: GeneCards:  ZNHIT2  Malacards:  ZNHIT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq