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Gene id 374407
Gene Summary     SNPs    Diseases    PubMed    

Gene Summary

Gene Symbol DNAJB13   Gene   UCSC   Ensembl
Aliases CILD34, RSPH16A, TSARG5, TSARG6
Gene name DnaJ heat shock protein family (Hsp40) member B13
Alternate names dnaJ homolog subfamily B member 13, DnaJ (Hsp40) homolog, subfamily B, member 13, DnaJ (Hsp40) related, subfamily B, member 13, DnaJ-like protein, radial spoke 16 homolog A, testis and spermatogenesis cell-related protein 6, testis spermatocyte apoptosis-relate,
Gene location 11q13.4 (73950318: 73970286)     Exons: 15     NC_000001.11
Gene summary(Entrez) This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein ass
OMIM 610263

SNPs


rs775700619

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

NC_000011.10   g.73951138G>A
NC_000011.10   g.73951138G>C
NC_000011.9   g.73662183G>A
NC_000011.9   g.73662183G>C
NG_053111.1   g.5820G>A
NG_053111.1   g.5820G>C|SEQ=[G/A/C]|GENE=DNAJB13

rs754776389

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

NC_000011.10   g.73969996T>C
NC_000011.10   g.73969996T>G
NC_000011.9   g.73681041T>C
NC_000011.9   g.73681041T>G
NG_053111.1   g.24678T>C
NG_053111.1   g.24678T>G
NM_153614.3   c.833T>C
NM_153614.3   c.833T>G
NM_153614.2   c.833T>C
NM_153614.2   c.833T>G
XM_011545004.3  
Associated diseases References
Primary ciliary dyskinesia KEGG: H00564
Spermatogenesis defects MIK: 25233908
Male factor infertility MIK: 29298896
Acephalic spermatozoa MIK: 29298896
Acephalic spermatozoa MIK: 29298896
Cryptorchidism MIK: 28606200
Important for mouse spermatogenesis MIK: 25233908
Male Infertility MIK: 27486783

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
29298896 Acephalic
spermatozo
a, Male in
fertility
SUN5 mutation (c.475C?T; p.Arg159*)

Male infertility
Show abstract
25233908 Important
for mouse
spermatoge
nesis


Male infertility
Show abstract
27486783 Male Infer
tility
c.833T>G, p.Met278Arg, c.68+1G>C
1 Primary cilia
ry dyskinesia (
PCD), Male infe
rtility
Male infertility
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract