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Gene id 912
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol CD1D   Gene   UCSC   Ensembl
Aliases CD1A, R3, R3G1
Gene name CD1d molecule
Alternate names antigen-presenting glycoprotein CD1d, CD1D antigen, d polypeptide, HMC class I antigen-like glycoprotein CD1D, T-cell surface glycoprotein CD1d, differentiation antigen CD1-alpha-3, thymocyte antigen CD1D,
Gene location 1q23.1 (158178037: 158186426)     Exons: 8     NC_000001.11
Gene summary(Entrez) This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the pres
OMIM 188410

SNPs


rs2656927

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

NC_000019.10   g.4908263C>T
NC_000019.9   g.4908275C>T
NG_033256.2   g.10184C>T|SEQ=[C/T]|GENE=UHRF1
ARRDC5   645432

rs8103849

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

NC_000019.10   g.4909617C>G
NC_000019.9   g.4909629C>G
NG_033256.2   g.11538C>G
NM_001048201.3   c.-49C>G
NM_001048201.2   c.-49C>G
NM_001048201.1   c.-49C>G
XM_011527942.2   c.-49C>G|SEQ=[C/G]|GENE=UHRF1
ARRDC5   645432

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa04530Tight junction
hsa04640Hematopoietic cell lineage
hsa05146Amoebiasis
hsa04530Tight junction
hsa05146Amoebiasis
hsa04640Hematopoietic cell lineage
Associated diseases References
Guillain-Barre syndrome GAD: 16820217
Associated with abnormal spermatogenesis MIK: 21323421
Associated with abnormal spermatogenesis MIK: 21323421
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21323421 Associated
with abno
rmal sperm
atogenesis


Male infertility
Show abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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