Male Infertility Database

Search Result

Gene id

2968

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

GTF2H4 Gene UCSC Ensembl

Aliases

P52, TFB2, TFIIH

Gene name

general transcription factor IIH subunit 4

Alternate names

general transcription factor IIH subunit 4, BTF2 p52, TFIIH basal transcription factor complex p52 subunit, basic transcription factor 2 52 kDa subunit, general transcription factor IIH polypeptide 4, general transcription factor IIH, polypeptide 4, 52kDa,

Gene location

6p21.33 (30908206: 30914105) Exons: 14 NC_000006.12

OMIM

608127

Protein Summary

Protein general information

Q92759

Name: General transcription factor IIH subunit 4 (Basic transcription factor 2 52 kDa subunit) (BTF2 p52) (General transcription factor IIH polypeptide 4) (TFIIH basal transcription factor complex p52 subunit)

Length: 462 Mass: 52186

Sequence

MESTPSRGLNRVHLQCRNLQEFLGGLSPGVLDRLYGHPATCLAVFRELPSLAKNWVMRMLFLEQPLPQAAVALWV
KKEFSKAQEESTGLLSGLRIWHTQLLPGGLQGLILNPIFRQNLRIALLGGGKAWSDDTSQLGPDKHARDVPSLDK
YAEERWEVVLHFMVGSPSAAVSQDLAQLLSQAGLMKSTEPGEPPCITSAGFQFLLLDTPAQLWYFMLQYLQTAQS
RGMDLVEILSFLFQLSFSTLGKDYSVEGMSDSLLNFLQHLREFGLVFQRKRKSRRYYPTRLAINLSSGVSGAGGT
VHQPGFIVVETNYRLYAYTESELQIALIALFSEMLYRFPNMVVAQVTRESVQQAIASGITAQQIIHFLRTRAHPV
MLKQTPVLPPTITDQIRLWELERDRLRFTEGVLYNQFLSQVDFELLLAHARELGVLVFENSAKRLMVVTPAGHSD
VKRFWKRQKHSS

Structural information

Interpro:	IPR040662 IPR004598
PDB:	5IVW 5IY6 5IY7 5IY8 5IY9 5OF4 6NMI 6O9L 6O9M 6RO4
PDBsum:	5IVW 5IY6 5IY7 5IY8 5IY9 5OF4 6NMI 6O9L 6O9M 6RO4
DIP:	48376
MINT:
STRING:	ENSP00000259895

Other Databases

GeneCards: GTF2H4 Malacards: GTF2H4

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0016251	RNA polymerase II general transcription initiation factor activity	IDA	molecular function
GO:0008353	RNA polymerase II CTD hep tapeptide repeat kinase a ctivity	IBA	contributes to
GO:0006289	nucleotide-excision repai r	IBA	biological process
GO:0005675	transcription factor TFII H holo complex	IBA	cellular component
GO:0003690	double-stranded DNA bindi ng	IBA	molecular function
GO:0070816	phosphorylation of RNA po lymerase II C-terminal do main	IBA	biological process
GO:0000439	transcription factor TFII H core complex	IBA	cellular component
GO:0006366	transcription by RNA poly merase II	IDA	biological process
GO:0005669	transcription factor TFII D complex	IDA	cellular component
GO:0006366	transcription by RNA poly merase II	IDA	biological process
GO:0005675	transcription factor TFII H holo complex	IDA	cellular component
GO:0000438	core TFIIH complex portio n of holo TFIIH complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006289	nucleotide-excision repai r	IEA	biological process
GO:0000439	transcription factor TFII H core complex	IEA	cellular component
GO:0001671	ATPase activator activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0006283	transcription-coupled nuc leotide-excision repair	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II pr omoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II pr omoter	TAS	biological process
GO:0006368	transcription elongation from RNA polymerase II pr omoter	TAS	biological process
GO:0033683	nucleotide-excision repai r, DNA incision	TAS	biological process
GO:0000717	nucleotide-excision repai r, DNA duplex unwinding	TAS	biological process
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: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: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:0006293	nucleotide-excision repai r, preincision complex st abilization	TAS	biological process
GO:0006294	nucleotide-excision repai r, preincision complex as sembly	TAS	biological process
GO:0006294	nucleotide-excision repai r, preincision complex as sembly	TAS	biological process
GO:0006294	nucleotide-excision repai r, preincision complex as sembly	TAS	biological process
GO:0006295	nucleotide-excision repai r, DNA incision, 3'-to le sion	TAS	biological process
GO:0006296	nucleotide-excision repai r, DNA incision, 5'-to le sion	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I pro moter	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I pro moter	TAS	biological process
GO:0006362	transcription elongation from RNA polymerase I pro moter	TAS	biological process
GO:0006363	termination of RNA polyme rase I transcription	TAS	biological process
GO:0006366	transcription by RNA poly merase II	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II pr omoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II pr omoter	TAS	biological process
GO:0006370	7-methylguanosine mRNA ca pping	TAS	biological process
GO:0070911	global genome nucleotide- excision repair	TAS	biological process
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:0016607	nuclear speck	IDA	cellular component
GO:0032781	positive regulation of AT Pase activity	IEA	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

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Pathway id	Pathway name
hsa05203	Viral carcinogenesis
hsa03022	Basal transcription factors
hsa03420	Nucleotide excision repair

Diseases

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

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21674046	Aberrant C pGs in Low Motility Sperm			18	Male infertility	GSE26881	Show abstract
25753583	Unexplaine d infertil ity			46 (17 fertile men, 29 male pa tients)	Male infertility	Microarray	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

Protein Summary

Gene ontology

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KEGG pathways

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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

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

Expand All | Collapse All

Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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