Male Infertility Database

Search Result

Gene id

221037

Gene Summary SNPs KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

JMJD1C Gene UCSC Ensembl

Aliases

KDM3C, TRIP-8, TRIP8

Gene name

jumonji domain containing 1C

Alternate names

probable JmjC domain-containing histone demethylation protein 2C, TR-interacting protein 8, thyroid hormone receptor interactor 8, thyroid receptor-interacting protein 8,

Gene location

10q21.3 (63521889: 63167220) Exons: 30 NT_033777.3

Gene summary(Entrez)

The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pat

OMIM

604503

SNPs

rs7910927

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

NC_000010.11   g.63379150T>A
NC_000010.11   g.63379150T>G
NC_000010.10   g.65138910T>A
NC_000010.10   g.65138910T>G
NG_053187.1   g.147926A>T
NG_053187.1   g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C

KEGG pathways

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Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa05202	Transcriptional misregulation in cancer

Diseases

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Associated diseases	References
Platelet aggregation	GAD: 20526338
Metabolic syndrome	GAD: 20648472
Alzheimer's disease	GAD: 16385451
Epigenetic regulation during spermatogenesis	MIK: 27649575
Maintanence of male germ cells	MIK: 24006281
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Epigenetic regulation during spermatogenesis	MIK: 27649575
Maintanence of male germ cells	MIK: 24006281
Teratozoospermia	MIK: 17327269

PubMed references

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PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
27649575	Epigenetic regulatio n during s permatogen esis		Male infertility		Show abstract
24006281	Maintanenc e of male germ cells		Male infertility		Show abstract
17327269	Teratozoos permia	19 (6 controls , 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract
21674046	Aberrant C pGs in Low Motility Sperm	18	Male infertility	GSE26881	Show abstract
28606200	Cryptorchi dism	Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

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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

KEGG pathways Expand All | Collapse All

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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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