Male Infertility Database

Search Result

Gene id

9025

Gene Summary SNPs Protein Summary Gene ontology Diseases PubMed

Gene Summary

Gene Symbol

RNF8 Gene UCSC Ensembl

Aliases

hRNF8

Gene name

ring finger protein 8

Alternate names

E3 ubiquitin-protein ligase RNF8, C3HC4-type zinc finger protein, RING-type E3 ubiquitin transferase RNF8, UBC13/UEV-interacting ring finger protein, ring finger protein (C3HC4 type) 8, ring finger protein 8, E3 ubiquitin protein ligase,

Gene location

6p21.2 (37353971: 37394737) Exons: 10 NC_000006.12

Gene summary(Entrez)

The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin liga

OMIM

611685

SNPs

rs2284922

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

NC_000006.12   g.37381257G>A
NC_000006.11   g.37349033G>A
NM_003958.4   c.1344G>A
NM_003958.3   c.1344G>A
XM_006715241.3   c.1254G>A
XR_001743734.2   n.1641G>A
XR_001743731.2   n.1558G>A
NR_046399.1   n.1643G>A
NR_046399.2   n.1632G>A
XM_017011462.1   c.1173G>A|SEQ=[G/A

rs195434

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

NC_000006.12   g.37392781T>C
NC_000006.11   g.37360557T>C
NM_003958.4   c.*2023T>C
NM_003958.3   c.*2023T>C
NM_183078.2   c.*1929T>C
NM_183078.3   c.*1929T>C
NR_046399.1   n.3780T>C
NR_046399.2   n.3769T>C|SEQ=[T/C]|GENE=RNF8

rs195432

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

NC_000006.12   g.37390246A>C
NC_000006.12   g.37390246A>G
NC_000006.12   g.37390246A>T
NC_000006.11   g.37358022A>C
NC_000006.11   g.37358022A>G
NC_000006.11   g.37358022A>T|SEQ=[A/C/G/T]|GENE=RNF8

rs104669

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

NC_000006.12   g.37386283A>T
NC_000006.11   g.37354059A>T|SEQ=[A/T]|GENE=RNF8

Protein Summary

Protein general information

O76064

Name: E3 ubiquitin protein ligase RNF8 (hRNF8) (EC 2.3.2.27) (RING finger protein 8) (RING type E3 ubiquitin transferase RNF8)

Length: 485 Mass: 55,518

Sequence

MGEPGFFVTGDRAGGRSWCLRRVGMSAGWLLLEDGCEVTVGRGFGVTYQLVSKICPLMISRNHCVLKQNPEGQWT
IMDNKSLNGVWLNRARLEPLRVYSIHQGDYIQLGVPLENKENAEYEYEVTEEDWETIYPCLSPKNDQMIEKNKEL
RTKRKFSLDELAGPGAEGPSNLKSKINKVSCESGQPVKSQGKGEVASTPSDNLDPKLTALEPSKTTGAPIYPGFP
KVTEVHHEQKASNSSASQRSLQMFKVTMSRILRLKIQMQEKHEAVMNVKKQTQKGNSKKVVQMEQELQDLQSQLC
AEQAQQQARVEQLEKTFQEEEQHLQGLEIAQGEKDLKQQLAQALQEHWALMEELNRSKKDFEAIIQAKNKELEQT
KEEKEKMQAQKEEVLSHMNDVLENELQCIICSEYFIEAVTLNCAHSFCSYCINEWMKRKIECPICRKDIKSKTYS
LVLDNCINKMVNNLSSEVKERRIVLIRERKAKRLF

Structural information

Protein Domains	FHA. (38-92)
Interpro:	IPR000253 IPR017335 IPR008984 IPR001841 IPR013083 IPR017907
Prosite:	PS50006 PS00518 PS50089
CDD:	cd00060
PDB:	2CSW 2PIE 4AYC 4ORH 4WHV
PDBsum:	2CSW 2PIE 4AYC 4ORH 4WHV
DIP:	31265
MINT:
STRING:	ENSP00000362578

Other Databases

GeneCards: RNF8 Malacards: RNF8

Gene ontology

Expand All | Collapse All

GO accession	Term name	Evidence code	Go category
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0000781	chromosome, telomeric reg ion	ISS	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	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
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006303	double-strand break repai r via nonhomologous end j oining	ISS	biological process
GO:0006303	double-strand break repai r via nonhomologous end j oining	TAS	biological process
GO:0006511	ubiquitin-dependent prote in catabolic process	IDA	biological process
GO:0006511	ubiquitin-dependent prote in catabolic process	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0007067	mitotic nuclear division	IEA	biological process
GO:0007286	spermatid development	ISS	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0010212	response to ionizing radi ation	IDA	biological process
GO:0010212	response to ionizing radi ation	IDA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0030496	midbody	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0033522	histone H2A ubiquitinatio n	IDA	biological process
GO:0033522	histone H2A ubiquitinatio n	IDA	biological process
GO:0033523	histone H2B ubiquitinatio n	ISS	biological process
GO:0034244	negative regulation of tr anscription elongation fr om RNA polymerase II prom oter	IMP	biological process
GO:0035861	site of double-strand bre ak	IDA	cellular component
GO:0036297	interstrand cross-link re pair	TAS	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043486	histone exchange	ISS	biological process
GO:0045190	isotype switching	ISS	biological process
GO:0045739	positive regulation of DN A repair	IDA	biological process
GO:0045739	positive regulation of DN A repair	IDA	biological process
GO:0051301	cell division	IEA	biological process
GO:0051865	protein autoubiquitinatio n	IDA	biological process
GO:0070534	protein K63-linked ubiqui tination	IDA	biological process
GO:0070535	histone H2A K63-linked ub iquitination	IMP	biological process
GO:0070535	histone H2A K63-linked ub iquitination	IDA	biological process
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0000781	chromosome, telomeric reg ion	ISS	cellular component
GO:0000781	chromosome, telomeric reg ion	IEA	cellular component
GO:0000781	chromosome, telomeric reg ion	IEA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IEA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	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
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006302	double-strand break repai r	IEA	biological process
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006303	double-strand break repai r via nonhomologous end j oining	ISS	biological process
GO:0006303	double-strand break repai r via nonhomologous end j oining	TAS	biological process
GO:0006511	ubiquitin-dependent prote in catabolic process	IDA	biological process
GO:0006511	ubiquitin-dependent prote in catabolic process	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0007067	mitotic nuclear division	IEA	biological process
GO:0007286	spermatid development	ISS	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0010212	response to ionizing radi ation	IDA	biological process
GO:0010212	response to ionizing radi ation	IDA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0030496	midbody	IEA	cellular component
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0033522	histone H2A ubiquitinatio n	IDA	biological process
GO:0033522	histone H2A ubiquitinatio n	IDA	biological process
GO:0033523	histone H2B ubiquitinatio n	ISS	biological process
GO:0034244	negative regulation of tr anscription elongation fr om RNA polymerase II prom oter	IMP	biological process
GO:0035861	site of double-strand bre ak	IDA	cellular component
GO:0036297	interstrand cross-link re pair	TAS	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043486	histone exchange	ISS	biological process
GO:0045190	isotype switching	ISS	biological process
GO:0045739	positive regulation of DN A repair	IDA	biological process
GO:0045739	positive regulation of DN A repair	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0051865	protein autoubiquitinatio n	IDA	biological process
GO:0070534	protein K63-linked ubiqui tination	IDA	biological process
GO:0070535	histone H2A K63-linked ub iquitination	IMP	biological process
GO:0070535	histone H2A K63-linked ub iquitination	IDA	biological process
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0000151	ubiquitin ligase complex	IDA	cellular component
GO:0000781	chromosome, telomeric reg ion	ISS	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transfe rase activity	IDA	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
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006302	double-strand break repai r	IDA	biological process
GO:0006303	double-strand break repai r via nonhomologous end j oining	ISS	biological process
GO:0006303	double-strand break repai r via nonhomologous end j oining	TAS	biological process
GO:0006511	ubiquitin-dependent prote in catabolic process	IDA	biological process
GO:0006511	ubiquitin-dependent prote in catabolic process	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0007286	spermatid development	ISS	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0010212	response to ionizing radi ation	IDA	biological process
GO:0010212	response to ionizing radi ation	IDA	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0033522	histone H2A ubiquitinatio n	IDA	biological process
GO:0033522	histone H2A ubiquitinatio n	IDA	biological process
GO:0033523	histone H2B ubiquitinatio n	ISS	biological process
GO:0034244	negative regulation of tr anscription elongation fr om RNA polymerase II prom oter	IMP	biological process
GO:0035861	site of double-strand bre ak	IDA	cellular component
GO:0036297	interstrand cross-link re pair	TAS	biological process
GO:0042393	histone binding	IDA	molecular function
GO:0042393	histone binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0043486	histone exchange	ISS	biological process
GO:0045190	isotype switching	ISS	biological process
GO:0045739	positive regulation of DN A repair	IDA	biological process
GO:0045739	positive regulation of DN A repair	IDA	biological process
GO:0051865	protein autoubiquitinatio n	IDA	biological process
GO:0070534	protein K63-linked ubiqui tination	IDA	biological process
GO:0070535	histone H2A K63-linked ub iquitination	IMP	biological process
GO:0070535	histone H2A K63-linked ub iquitination	IDA	biological process
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process
GO:0070936	protein K48-linked ubiqui tination	IDA	biological process

Diseases

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Associated diseases	References
Non obstructive azoospermia	MIK: 25374327
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Non- obstructive azoospermia	MIK: 25374327
Spermiogenesis	MIK: 28552346

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25374327	Non- obstr uctive azo ospermia	RNF8 (rs195432, rs195434, rs2284922)	Chinese Han	729 (361 men wi th NOA, 368 fer tile controls)	Male infertility	RNF8 BRDT	Show abstract
28552346	Spermiogen esis				Male infertility		Show abstract
21674046	Aberrant C pGs in Low Motility Sperm			18	Male infertility	GSE26881	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

Expand All | Collapse All

Diseases Expand All | Collapse All

Expand All | Collapse All

PubMed references

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Diseases

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