• Gene id: 23081

Gene Summary

• Gene Symbol: KDM4C   Gene   UCSC   Ensembl
• Aliases: GASC1, JHDM3C, JMJD2C, TDRD14C
• Gene name: lysine demethylase 4C
• Alternate names: lysine-specific demethylase 4C, JmjC domain-containing histone demethylation protein 3C, gene amplified in squamous cell carcinoma 1 protein, jumonji domain-containing protein 2C, lysine (K)-specific demethylase 4C, tudor domain containing 14C,
• Gene location: 9p24.1 (6720862: 7175647)     Exons: 30     NC_000009.12
• Gene summary(Entrez): This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and
• OMIM: 605469

Protein Summary

• Protein general information: Q9H3R0  
  • Name: Lysine specific demethylase 4C (EC 1.14.11. ) (Gene amplified in squamous cell carcinoma 1 protein) (GASC 1 protein) (JmjC domain containing histone demethylation protein 3C) (Jumonji domain containing protein 2C)
  • Length: 1056  
  • Mass: 119982
  • Tissue specificity: Overexpressed in several esophageal squamous cell carcinomas (ESCs). {ECO
• Sequence:

  MEVAEVESPLNPSCKIMTFRPSMEEFREFNKYLAYMESKGAHRAGLAKVIPPKEWKPRQCYDDIDNLLIPAPIQQ
  MVTGQSGLFTQYNIQKKAMTVKEFRQLANSGKYCTPRYLDYEDLERKYWKNLTFVAPIYGADINGSIYDEGVDEW
  NIARLNTVLDVVEEECGISIEGVNTPYLYFGMWKTTFAWHTEDMDLYSINYLHFGEPKSWYAIPPEHGKRLERLA
  QGFFPSSSQGCDAFLRHKMTLISPSVLKKYGIPFDKITQEAGEFMITFPYGYHAGFNHGFNCAESTNFATVRWID
  YGKVAKLCTCRKDMVKISMDIFVRKFQPDRYQLWKQGKDIYTIDHTKPTPASTPEVKAWLQRRRKVRKASRSFQC
  ARSTSKRPKADEEEEVSDEVDGAEVPNPDSVTDDLKVSEKSEAAVKLRNTEASSEEESSASRMQVEQNLSDHIKL
  SGNSCLSTSVTEDIKTEDDKAYAYRSVPSISSEADDSIPLSSGYEKPEKSDPSELSWPKSPESCSSVAESNGVLT
  EGEESDVESHGNGLEPGEIPAVPSGERNSFKVPSIAEGENKTSKSWRHPLSRPPARSPMTLVKQQAPSDEELPEV
  LSIEEEVEETESWAKPLIHLWQTKSPNFAAEQEYNATVARMKPHCAICTLLMPYHKPDSSNEENDARWETKLDEV
  VTSEGKTKPLIPEMCFIYSEENIEYSPPNAFLEEDGTSLLISCAKCCVRVHASCYGIPSHEICDGWLCARCKRNA
  WTAECCLCNLRGGALKQTKNNKWAHVMCAVAVPEVRFTNVPERTQIDVGRIPLQRLKLKCIFCRHRVKRVSGACI
  QCSYGRCPASFHVTCAHAAGVLMEPDDWPYVVNITCFRHKVNPNVKSKACEKVISVGQTVITKHRNTRYYSCRVM
  AVTSQTFYEVMFDDGSFSRDTFPEDIVSRDCLKLGPPAEGEVVQVKWPDGKLYGAKYFGSNIAHMYQVEFEDGSQ
  IAMKREDIYTLDEELPKRVKARFSTASDMRFEDTFYGADIIQGERKRQRVLSSRFKNEYVADPVYRTFLKSSFQK
  KCQKRQ

• Structural information:
  • Protein Domains: (16..5-)
    (/note="JmjN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00537-)
    (144..31-)
    (/note="JmjC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00538-)
    (877..93-)
    (/note="Tudor-1)
    (935..99-)
    (/note="Tudor-2")
  • Interpro: IPR034732  IPR003347  IPR003349  IPR040477  IPR002999   IPR011011  IPR001965  IPR013083  
  • Prosite: PS51805 PS51184 PS51183
  • PDB: 2XDP 2XML 4XDO 4XDP 5FJH 5FJK 5KR7
  • PDBsum: 2XDP 2XML 4XDO 4XDP 5FJH 5FJK 5KR7
  • DIP: 60098
  • STRING: ENSP00000370710
• Other Databases: GeneCards:  KDM4C  Malacards:  KDM4C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035097	histone methyltransferase complex	IBA	cellular component
GO:0032454	histone demethylase activity (H3-K9 specific)	IBA	molecular function
GO:0032452	histone demethylase activity	IBA	molecular function
GO:0006338	chromatin remodeling	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0033169	histone H3-K9 demethylation	IDA	biological process
GO:0032454	histone demethylase activity (H3-K9 specific)	IDA	molecular function
GO:0032454	histone demethylase activity (H3-K9 specific)	IMP	molecular function
GO:0033169	histone H3-K9 demethylation	IMP	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0032454	histone demethylase activity (H3-K9 specific)	IEA	molecular function
GO:0032452	histone demethylase activity	EXP	molecular function
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:0000790	nuclear chromatin	IEA	cellular component
GO:2000736	regulation of stem cell differentiation	IEA	biological process
GO:1900113	negative regulation of histone H3-K9 trimethylation	IEA	biological process
GO:0032452	histone demethylase activity	IEA	molecular function
GO:0019899	enzyme binding	IEA	molecular function
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0050681	androgen receptor binding	IEA	molecular function
GO:0033169	histone H3-K9 demethylation	IEA	biological process
GO:0005721	pericentric heterochromatin	IEA	cellular component
GO:0001825	blastocyst formation	IEA	biological process
GO:0032454	histone demethylase activity (H3-K9 specific)	IMP	molecular function
GO:0050681	androgen receptor binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0033169	histone H3-K9 demethylation	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0033169	histone H3-K9 demethylation	IDA	biological process
GO:0032454	histone demethylase activity (H3-K9 specific)	IDA	molecular function
GO:0070544	histone H3-K36 demethylation	IDA	biological process
GO:0051864	histone demethylase activity (H3-K36 specific)	IDA	molecular function

Diseases

Associated diseases	References
medulloblastoma	PMID:19270706
Prostate cancer	PMID:20127736
head and neck cancer	PMID:19339270
autistic disorder	PMID:20410850
Breast cancer	PMID:24952432
Esophagus squamous cell carcinoma	PMID:24224128
Esophagus squamous cell carcinoma	PMID:15805246
renal cell carcinoma	PMID:22483639
stomach carcinoma	PMID:24418035
Alopecia areata	PMID:21936853
Cryptorchidism	MIK: 21412036
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray