|
Gene id |
3304 |
| Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
HSPA1B Gene UCSC Ensembl |
|
Aliases |
HSP70-1B, HSP70-2, HSP70.2 |
|
Gene name |
heat shock protein family A (Hsp70) member 1B |
|
Alternate names |
heat shock 70 kDa protein 1B, HSP70-1/HSP70-2, HSP70.1/HSP70.2, heat shock 70 kDa protein 1/2, heat shock 70 kDa protein 1A/1B, heat shock 70 kDa protein 2, heat shock 70kD protein 1B, heat shock 70kDa protein 1B, |
|
Gene location |
6p21.33 (31827734: 31830253) Exons: 1 NC_000006.12
|
|
Gene summary(Entrez) |
This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly tr
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|
OMIM |
603012 |
SNPs |
rs16895863
Strand: Allele origin: Allele change: Mutation type: snv
NC_000006.12 g.42603608A>T
NC_000006.11 g.42571346A>T
XM_005248966.3 c.-1554A>T
XR_001743284.2 n.1051A>T
XM_011514438.2 c.633A>T
NM_015255.2 c.552A>T
XM_017010595.1 c.633A>T
XM_017010596.1 c.552A>T
NM_001363705.1 c.552A>T
XM_017010594.1 c.633A>T
XR_0
rs3749897
Strand: Allele origin: Allele change: Mutation type: snv
NC_000006.12 g.42564364C>G
NC_000006.12 g.42564364C>T
NC_000006.11 g.42532102C>G
NC_000006.11 g.42532102C>T
XR_001743284.2 n.410C>G
XR_001743284.2 n.410C>T
XM_011514438.2 c.-9C>G
XM_011514438.2 c.-9C>T
NM_015255.2 c.45C>G
NM_015255.2 c.45C>T
XM_01701
rs373341
Strand: Allele origin: Allele change: Mutation type: snv
NC_000006.12 g.42691014T>C
NC_000006.12 g.42691014T>G
NC_000006.11 g.42658752T>C
NC_000006.11 g.42658752T>G|SEQ=[T/C/G]|GENE=UBR2
|
Protein Summary
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|
| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Cancer | GAD: 20012387 |
| Cancer (gastric) | GAD: 19626584 |
| Cancer (Hepatocellular) | GAD: 18344806 |
| Cancer (leukemia) | GAD: 20012387 |
| Cancer (lung) | GAD: 20704535 |
| Cancer (nasopharyngeal) | GAD: 12691826 |
| Cancer (stomach) | GAD: 18478330 |
| Atherosclerosis | GAD: 16953332 |
| Hypertension | GAD: 19085089 |
| Cardiovascular disease | GAD: 18759004 |
| Restenosis | GAD: 12082592 |
| Asthma | GAD: 10221440 |
| Autoimmune diseases | GAD: 18657583 |
| Crohn's disease | GAD: 16165702 |
| Multiple sclerosis | GAD: 11696222 |
| Systemic lupus erythematosus (SLE) | GAD: 19851445 |
| Diabetes | GAD: 15223990 |
| Obesity | GAD: 11319647 |
| Osteoporosis | GAD: 18551993 |
| Spondylarthropathies | GAD: 11779758 |
| Stroke | GAD: 12008944 |
| Alzheimer's disease | GAD: 12967056 |
| Parkinson disease | GAD: 14605873 |
| Schizophrenia | GAD: 15963589 |
| Abortion | GAD: 20587610 |
| Preeclampsia | GAD: 16202503 |
| Primary infertility | MIK: 26160076 |
| Male factor infertility | MIK: 11730740 |
| Sertoli cell only syndrome (SCOS) | MIK: 11730740 |
| Varicocele | MIK: 24481955 |
| Maturation arrest | MIK: 11730740 |
| Hypothyroidism | GAD: 15236755 |
| Chronic obstructive pulmonary disease (COPD) | GAD: 15165109 |
| Connective tissue diseases | GAD: 19527514 |
| Associated with spermatogenesis and epigenetic regulation | MIK: 21674046 |
| Male infertility | MIK: 26453269 |
| Maturational arrest | MIK: 11730740 |
| Sertoli cell-only syndrome | MIK: 11730740 |
| Nonobstructive azoospermia | MIK: 29528137 |
| Primary infertility | MIK: 26160076 |
| Teratozoospermia | MIK: 17327269 |
| Unexplained infertility | MIK: 25753583 |
| Varicocele | MIK: 24481955 |
| Sperm defects | MIK: 24481955 |
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|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 24481955 |
Varicocel
e-related
sperm impa
irment, ma
le inferti
lity
|
|
|
|
Male infertility |
miR-15a
HSPA1B
|
Show abstract |
| 26160076 |
Primary in
fertility
|
HSPA1B gene (NM_005346.4, GI: 3304):c.1059G>A, (PstI G>A; dbSNP: rs1061581G>A) and HSPA1L gene (NM_005527.3, GI: 3305) c.1478C>T (NcoIC>T, dbSNP: rs2227956) |
|
140 (68 were in
fertile cases,
72 fertile cont
rols)
|
Male infertility |
HSPA1B
HSPA1L
|
Show abstract |
| 11730740 |
Male infer
tility, ma
turational
arrest, S
ertoli cel
l-only syn
drome
|
|
|
|
Male infertility |
hsp70-2
|
Show abstract |
| 29528137 |
Nonobstruc
tive azoos
permia
|
|
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21 (14 nonobstr
uctive azoosper
mic men (N = 4;
normal FSH and
normal testicu
lar volume and
N = 10; high FS
H and small tes
ticular volume)
, seven normozo
ospermic men)
|
Male infertility |
|
Show abstract |
| 26453269 |
Male infer
tility
|
|
|
|
Male infertility |
Methylation array
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
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13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 21674046 |
Associated
with sper
matogenesi
s and epig
enetic reg
ulation
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
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46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|