SPGF3
MCID: SPR086
MIFTS: 47

Spermatogenic Failure 3 (SPGF3)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 3

MalaCards integrated aliases for Spermatogenic Failure 3:

Name: Spermatogenic Failure 3 57 12 72 29 13 6
Spgf3 57 12 72
Spermatogenic Failure, Type 3 39
Azoospermia, Nonobstructive 70
Asthenozoospermia 44

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
spermatogenic failure 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070168
OMIM® 57 606766
OMIM Phenotypic Series 57 PS258150
MeSH 44 D053627
SNOMED-CT via HPO 68 15296000 263681008 8619003
UMLS 70 C1847540

Summaries for Spermatogenic Failure 3

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 3: A disorder characterized by primary infertility, sperm morphologic abnormalities, and moderate to severe asthenozoospermia, condition in which the percentage of progressively motile sperm is abnormally low.

MalaCards based summary : Spermatogenic Failure 3, also known as spgf3, is related to non-syndromic male infertility due to sperm motility disorder and male infertility. An important gene associated with Spermatogenic Failure 3 is SLC26A8 (Solute Carrier Family 26 Member 8), and among its related pathways/superpathways is Meiosis. The drugs Letrozole and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include testis, kidney and spinal cord, and related phenotypes are infertility and reproductive system

Disease Ontology : 12 A male infertility characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has material basis in heterozygous mutation in the SLC26A8 gene on chromosome 6p21.

OMIM® : 57 In spermatogenic failure-3, primary infertility is associated with nonobstructive asthenozoospermia (Dirami et al., 2013). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (606766) (Updated 05-Apr-2021)

Related Diseases for Spermatogenic Failure 3

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 5
Spermatogenic Failure 1 Spermatogenic Failure 4
Spermatogenic Failure 3 Spermatogenic Failure 7
Spermatogenic Failure 8 Spermatogenic Failure 9
Spermatogenic Failure 10 Spermatogenic Failure 11
Spermatogenic Failure 12 Spermatogenic Failure 13
Spermatogenic Failure 14 Spermatogenic Failure 15
Spermatogenic Failure 16 Spermatogenic Failure 17
Spermatogenic Failure 18 Spermatogenic Failure 19
Spermatogenic Failure 20 Spermatogenic Failure 21
Spermatogenic Failure 22 Spermatogenic Failure 23
Spermatogenic Failure 24 Spermatogenic Failure 25
Spermatogenic Failure 26 Spermatogenic Failure 27
Spermatogenic Failure 28 Spermatogenic Failure 29
Spermatogenic Failure 30 Spermatogenic Failure 31
Spermatogenic Failure 32 Spermatogenic Failure 33
Spermatogenic Failure 34 Spermatogenic Failure 35
Spermatogenic Failure 36 Spermatogenic Failure 37
Spermatogenic Failure 38 Spermatogenic Failure 39
Spermatogenic Failure 40 Spermatogenic Failure 41
Spermatogenic Failure 42 Spermatogenic Failure 43
Spermatogenic Failure 44 Spermatogenic Failure 45
Spermatogenic Failure 46 Spermatogenic Failure 47
Spermatogenic Failure 48 Spermatogenic Failure 49
Spermatogenic Failure 50 Spermatogenic Failure 51
Spermatogenic Failure 52 Spermatogenic Failure 53

Diseases related to Spermatogenic Failure 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 non-syndromic male infertility due to sperm motility disorder 31.5 SLC26A8 CFAP251
2 male infertility 30.3 TEX14 STAG3 SLC26A8 CFAP251
3 infertility 29.9 TEX14 STAG3 SLC26A8 MSH5 CFAP251
4 azoospermia 29.7 TEX14 STAG3 MSH4
5 spermatogenic failure, x-linked, 3 11.4
6 spermatogenic failure 39 11.1
7 spermatogenic failure 11 11.1
8 male infertility due to sperm motility disorder 11.0
9 oligoasthenoteratozoospermia 11.0
10 spermatogenic failure 41 10.9
11 spermatogenic failure 50 10.9
12 varicocele 10.3
13 primary ciliary dyskinesia 10.2
14 oligospermia 10.1
15 rapidly involuting congenital hemangioma 10.1
16 immunodeficiency 25 10.0 MSH5 MSH4
17 premature ovarian failure 13 10.0 MSH5-SAPCD1 MSH5
18 tubulin, beta 10.0
19 prostatitis 10.0
20 bardet-biedl syndrome 10.0
21 spermatogenic failure 6 9.8
22 vas deferens, congenital bilateral aplasia of 9.8
23 glycerol kinase 2 9.8
24 hyperprolactinemia 9.8
25 spermatogenic failure 42 9.8
26 kartagener syndrome 9.8
27 rickets 9.8
28 microcephaly 9.8
29 spermatocele 9.8
30 gonadal dysgenesis 9.8
31 situs inversus 9.8
32 47,xyy 9.8
33 y chromosome infertility 9.8
34 dentinogenesis imperfecta type 2 9.8
35 partial deletion of y 9.8
36 hypoxia 9.8
37 ciliopathy 9.8
38 premature menopause 9.5 STAG3 MSH5 MSH4
39 fanconi anemia, complementation group a 9.2 TEX14 STAG3 MSH5 MSH4

Graphical network of the top 20 diseases related to Spermatogenic Failure 3:



Diseases related to Spermatogenic Failure 3

Symptoms & Phenotypes for Spermatogenic Failure 3

Human phenotypes related to Spermatogenic Failure 3:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility due to asthenozoospermia
flagellar defects
spermatozoa with coiled tails (in some patients)
abnormally shaped posterior part of sperm head (in some patients)
low sperm counts (in some patients)

Clinical features from OMIM®:

606766 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Spermatogenic Failure 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.17 FOXP3 M1AP MSH4 MSH5 SLC26A8 STAG3

Drugs & Therapeutics for Spermatogenic Failure 3

Drugs for Spermatogenic Failure 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
2
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2
3
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
4
Sodium citrate Approved, Investigational Phase 3 68-04-2
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
7
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
8 Tocotrienol Investigational Phase 2, Phase 3 6829-55-6
9
Enclomiphene Investigational Phase 3 15690-57-0
10 Aromatase Inhibitors Phase 3
11 Nutrients Phase 2, Phase 3
12 Trace Elements Phase 2, Phase 3
13 Micronutrients Phase 2, Phase 3
14 Vitamins Phase 2, Phase 3
15 Omega 3 Fatty Acid Phase 2, Phase 3
16 Tocopherols Phase 2, Phase 3
17 Tocotrienols Phase 2, Phase 3
18 Protective Agents Phase 2, Phase 3
19 Vitamin B9 Phase 2, Phase 3
20 Hematinics Phase 2, Phase 3
21 Vitamin B Complex Phase 2, Phase 3
22 Folate Phase 2, Phase 3
23 Citrate Phase 3
24 Hormone Antagonists Phase 3
25 Hormones Phase 3
26 Zuclomiphene Phase 3
27 Estrogen Receptor Modulators Phase 3
28 Estrogens Phase 3
29 Estrogen Receptor Antagonists Phase 3
30 Clomiphene Phase 3
31 Estrogen Antagonists Phase 3
32
Zinc Approved, Investigational Phase 2 7440-66-6 32051
33
Zinc sulfate Approved, Investigational Phase 2 7733-02-0
34 Dermatologic Agents Phase 2
35
Testosterone Approved, Investigational 58-22-0 6013
36
Pentoxifylline Approved, Investigational 6493-05-6 4740
37
Nitric Oxide Approved 10102-43-9 145068
38 English walnut Approved
39
Inositol Approved, Investigational, Withdrawn 87-89-8
40
Ramipril Approved 87333-19-5 5362129
41
Ginseng Approved, Investigational, Nutraceutical 50647-08-0
42 Anesthetics
43 Vasodilator Agents
44 Phosphodiesterase Inhibitors
45 Radiation-Protective Agents
46 Platelet Aggregation Inhibitors
47 Propolis
48 Anti-Infective Agents
49 Bee Products
50 Antioxidants

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Effect of Letrozole on Seminal Parameters in Men With Non Obstructive Azoospermia and Severe Oligozoospermia. Completed NCT02900105 Phase 3 Letrozole
2 The Effects of Administration of Combined Docosahexaenoic Acid and Vitamin E Supplements on Spermatogram and Seminal Plasma Oxidative Stress in Infertile Men With Asthenozoospermia Completed NCT01846325 Phase 2, Phase 3
3 Effect of Treatment With Myo-inositol on Human Semen Parameters in Patients Undergoing IVF Cycles Completed NCT01828710 Phase 2, Phase 3
4 Interest of Clomiphene Citrate (CC) Associated With a Second Testicular Sperm Extraction (TESE) in Patients With Non-obstructive Azoospermia (NOA) After Failure of a First TESE, on the Quantity of Sperm Cells Available for Intracytoplasmic Sperm Injection (ICSI). Randomized Double Blind Trial Versus Placebo. Not yet recruiting NCT03615547 Phase 3 Clomifene Citrate
5 The Effect of Oral Zinc Supplementation on Thiol Oxido-reductive Index and Thiol Related Enzymes in Spermatozoa of Iraqi Asthenospermic Patients Completed NCT02985905 Phase 2
6 Study of the Effect of Oral Zinc Supplementation on Superoxide Radical Scavengers in Spermatozoa of Patients With Asthenospermia Completed NCT02217189 Phase 2
7 Predictors for Successful Sperm Reterival by Testicular Sperm Extraxtion(TESE) in Patients With Non Obstructive Azospermia Unknown status NCT03146260
8 Multicenter, Randomized, Double-blind, Placebo-controlled Clinical Trial for Evaluation of Sperm Motility Improvement Effect of Fermented Ginseng(GINST) Unknown status NCT03183999
9 Seminal TEX101 as a Predictor of Recovery of Spermatogenesis in Azoospermic Men With Palpable Varicocele Completed NCT04397887
10 The Effects of Intratesticular PRP Injection Completed NCT04237779
11 Beneficial Effect of Adding Pentoxifylline to Processed Semen Samples on ICSI Outcome in Infertile Males With Mild and Moderate Asthenozoospermia: Randomized Controlled Prospective Crossover Study Completed NCT01793272
12 Study the Effect of Oral Zinc Supplementation on High Molecular Weight Zinc Binding Protein in Semen Completed NCT01612403
13 Study the Effect of Oral Zinc Supplementation on Enzymes of Nitric Oxide Pathway Completed NCT01684059
14 Male Infertility and Complementary Treatment Completed NCT03463005
15 Effect of Walnuts on Sperm Parameters and Male Fertility Completed NCT01954498
16 The Potential of Sperm Retrieved by Micro-TESE to Fertilize Vitrified/Warmed Oocytes Recruiting NCT03809026
17 Retrieval of Sperm From Men With Azoospermia Using Ultrasound-guided Rete Testis Aspiration Recruiting NCT03291522
18 Evaluation of the Effects of Semen Incubation With ANDROSITOL®DGN on Sperm Motility and Mitochondrial Membrane Potential Before and After Oral Supplementation With Antioxidants and Myo-inositol Recruiting NCT04291495
19 Seminal Level of Clusterin in Infertile Men as a Predictor for Spermatogenesis Before Testicular Sperm Extraction Not yet recruiting NCT03857828
20 Ramipril for the Treatment of Oligospermia: A Double-Blind Randomized Control Trial Terminated NCT01856361 Ramipril;Placebo

Search NIH Clinical Center for Spermatogenic Failure 3

Cochrane evidence based reviews: asthenozoospermia

Genetic Tests for Spermatogenic Failure 3

Genetic tests related to Spermatogenic Failure 3:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 3 29 SLC26A8

Anatomical Context for Spermatogenic Failure 3

MalaCards organs/tissues related to Spermatogenic Failure 3:

40
Testis, Kidney, Spinal Cord, Testes, Endothelial, Thyroid, Bone

Publications for Spermatogenic Failure 3

Articles related to Spermatogenic Failure 3:

(show top 50) (show all 869)
# Title Authors PMID Year
1
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. 6 61 57
23582645 2013
2
Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men. 61 6
30122541 2018
3
Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals. 6
33448284 2021
4
The forkhead transcription factor, FOXP3: a critical role in male fertility in mice. 6
24258212 2014
5
A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia. 57
22541561 2012
6
Susceptibility gene for non-obstructive azoospermia located near HLA-DR and -DQ loci in the HLA class II region. 57
11935327 2002
7
Deficiency of TBL1XR1 causes asthenozoospermia. 61
33528066 2021
8
Effects of Pulsed-Wave Photobiomodulation Therapy on Human Spermatozoa. 61
33792933 2021
9
The Roles of MicroRNAs in Male Infertility. 61
33805594 2021
10
RNA N6-methyladenosine modification, spermatogenesis, and human male infertility. 61
33749751 2021
11
The effect of a novel LRRC6 mutation on the flagellar ultrastructure in a primary ciliary dyskinesia patient. 61
33403504 2021
12
Efficacy and safety of papaverine as an in vitro motility enhancer on human spermatozoa. 61
33772411 2021
13
A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome. 61
33689014 2021
14
The evaluation of Human papilloma virus and human herpes viruses (EBV, CMV, VZV HSV-1 and HSV-2) in semen samples. 61
33774857 2021
15
Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome. 61
33770252 2021
16
Novel variants in DNAH9 lead to nonsyndromic severe asthenozoospermia. 61
33610189 2021
17
A novel splicing variant in DNAH8 causes asthenozoospermia. 61
33611675 2021
18
Upregulated microRNA-423-5p promotes oxidative stress through targeting glutathione S-transferase mu 1 in asthenozoospermia. 61
33507590 2021
19
The epigenetic alterations of human sperm cells caused by heroin use disorder. 61
33099803 2021
20
Causes and consequences of sperm mitochondrial dysfunction. 61
32510691 2021
21
CFAP43-mediated intra-manchette transport is required for sperm head shaping and flagella formation. 61
33046149 2021
22
Highly Cited Articles in the Field of Male Infertility and Antioxidants: A Scientometric Analysis. 61
33663027 2021
23
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system. 61
33561200 2021
24
Underexpression of hsa-miR-449 family and their promoter hypermethylation in infertile men: A case-control study. 61
33554000 2021
25
Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes. 61
33475980 2021
26
The Effect of Daily Intake of Selenium, Vitamin E and Folic Acid on Sperm Parameters in Males with Idiopathic Infertility: A Single-Blind Randomized Controlled Clinical Trial. 61
33497041 2021
27
The genetic architecture of morphological abnormalities of the sperm tail. 61
31950240 2021
28
Efficacy of electroacupuncture for the treatment of asthenozoospermia: A protocol for systematic review and meta-analysis. 61
33530158 2021
29
Study of Linc00574 Regulatory Effect on the TCTE3 Expression in Sperm Motility. 61
32749594 2021
30
Testis developmental related gene 1 (TDRG1) encodes a progressive motility-associated protein in human spermatozoa. 61
33279973 2021
31
Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men. 61
33459881 2021
32
Screening, identification and interaction analysis of key MicroRNAs and genes in Asthenozoospermia. 61
33746583 2021
33
Roles of CatSper channels in the pathogenesis of asthenozoospermia and the therapeutic effects of acupuncture-like treatment on asthenozoospermia. 61
33456575 2021
34
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice. 61
33118031 2021
35
The sodium/proton exchanger SLC9C1 (sNHE) is essential for human sperm motility and fertility. 61
33462806 2021
36
Analysis of semen quality of 38 905 infertile male patients during 2008-2016 in Wenzhou, China. 61
33433531 2021
37
Investigating the regulatory function of the ANO1-AS2 on the ANO1 gene in infertile men with asthenozoospermia and terato-asthenozoospermia. 61
32916161 2020
38
Mutation of GALNTL5 gene identified in patients diagnosed with asthenozoospermia. 61
30628500 2020
39
DJ-1 deficiency causes metabolic abnormality in ornidazole-induced asthenozoospermia. 61
33112771 2020
40
Primary and secondary infertility in Africa: systematic review with meta-analysis. 61
33292584 2020
41
Genetic underpinnings of asthenozoospermia. 61
33191078 2020
42
Supplementing post-wash asthenozoospermic human spermatozoa with coenzyme Q10 for 1 hr in vitro improves sperm motility, but not oxidative stress. 61
32986892 2020
43
A review on the stem cell therapy and an introduction to exosomes as a new tool in reproductive medicine. 61
32900639 2020
44
Leukocytospermia in late adolescents: possible clinical interpretations. 61
33226627 2020
45
[The efficacy of recombinant interferon -2b in the treat ment of male infertility caused by human papilloma- virus]. 61
33185349 2020
46
Does Lepidium meyenii (Maca) improve seminal quality? 61
32654242 2020
47
Gene transcription profiling of astheno- and normo-zoospermic sperm subpopulations. 61
32167074 2020
48
Oxidative stress markers in seminal plasma of idiopathic infertile men may be associated with glutathione S-transferase M1 and T1 null genotypes. 61
32525579 2020
49
Protective Effect of Ursolic Acid in Prunella vulgaris L on LPS-induced asthenozoospermia via Bcl-2/Bax Apoptosis Signaling Pathway. 61
33109038 2020
50
Yishentongluo decoction in treatment of idiopathic asthenozoospermia infertility: Study protocol for a randomized controlled trial. 61
33120757 2020

Variations for Spermatogenic Failure 3

ClinVar genetic disease variations for Spermatogenic Failure 3:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 M1AP NM_138804.4(M1AP):c.676dup (p.Trp226fs) Duplication Pathogenic 805830 rs144217347 GRCh37: 2:74808893-74808894
GRCh38: 2:74581766-74581767
2 SLC26A8 NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln) SNV Pathogenic 50909 rs140210148 GRCh37: 6:35980078-35980078
GRCh38: 6:36012301-36012301
3 SLC26A8 NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys) SNV Pathogenic 50910 rs142724470 GRCh37: 6:35918978-35918978
GRCh38: 6:35951201-35951201
4 SLC26A8 NM_052961.4(SLC26A8):c.2860C>T (p.Arg954Cys) SNV Pathogenic 50911 rs398123027 GRCh37: 6:35911730-35911730
GRCh38: 6:35943953-35943953
5 CFAP251 NM_144668.6(CFAP251):c.1588_1589del (p.Leu530fs) Deletion Pathogenic 545693 rs1565912409 GRCh37: 12:122395032-122395033
GRCh38: 12:121957126-121957127
6 FOXP3 NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) SNV Pathogenic 712945 rs17847095 GRCh37: X:49114808-49114808
GRCh38: X:49258351-49258351
7 FOXP3 NM_014009.4(FOXP3):c.691C>A (p.Gln231Lys) SNV Pathogenic 810691 rs1602684496 GRCh37: X:49112220-49112220
GRCh38: X:49255759-49255759
8 SLC26A8 NM_052961.4(SLC26A8):c.1444C>T (p.Gln482Ter) SNV Pathogenic 998271 GRCh37: 6:35930320-35930320
GRCh38: 6:35962543-35962543
9 TEX14 NM_001201457.1(TEX14):c.4297G>A (p.Glu1433Lys) SNV Likely pathogenic 684735 rs147575609 GRCh37: 17:56636922-56636922
GRCh38: 17:58559561-58559561
10 TRIM71 NM_001039111.3(TRIM71):c.224_240dup (p.Gly81fs) Duplication Likely pathogenic 996339 GRCh37: 3:32859791-32859792
GRCh38: 3:32818299-32818300
11 MSH4 NM_002440.4(MSH4):c.1453C>T (p.Gln485Ter) SNV Likely pathogenic 992887 GRCh37: 1:76343916-76343916
GRCh38: 1:75878231-75878231
12 MSH4 NM_002440.4(MSH4):c.1686del (p.Lys562_Val563insTer) Deletion Likely pathogenic 992888 GRCh37: 1:76345741-76345741
GRCh38: 1:75880056-75880056
13 MSH4 NM_002440.4(MSH4):c.2198C>A (p.Ser733Ter) SNV Likely pathogenic 992889 GRCh37: 1:76355026-76355026
GRCh38: 1:75889341-75889341
14 MSH5-SAPCD1 , MSH5 NM_172166.4(MSH5):c.75dup (p.Ser26fs) Duplication Likely pathogenic 992890 GRCh37: 6:31708314-31708315
GRCh38: 6:31740537-31740538
15 MSH5-SAPCD1 , MSH5 NM_172166.4(MSH5):c.1857del (p.Ala620fs) Deletion Likely pathogenic 992891 GRCh37: 6:31728511-31728511
GRCh38: 6:31760734-31760734
16 NPAS2-AS1 , NPAS2 NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala) SNV Likely pathogenic 242856 rs879253743 GRCh37: 2:101592000-101592000
GRCh38: 2:100975538-100975538
17 STAG3 NM_001282716.1(STAG3):c.1262T>G (p.Leu421Arg) SNV Likely pathogenic 617739 rs1161498711 GRCh37: 7:99796115-99796115
GRCh38: 7:100198492-100198492
18 STAG3 NM_001282716.1(STAG3):c.1312C>T (p.Arg438Ter) SNV Likely pathogenic 617740 rs751680143 GRCh37: 7:99796165-99796165
GRCh38: 7:100198542-100198542
19 MSH4 NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu) SNV Conflicting interpretations of pathogenicity 869115 rs377712900 GRCh37: 1:76356415-76356415
GRCh38: 1:75890730-75890730
20 TEX14 NM_198393.3(TEX14):c.709C>G (p.Gln237Glu) SNV Uncertain significance 684771 rs35551271 GRCh37: 17:56693594-56693594
GRCh38: 17:58616233-58616233
21 TEX14 NM_001201457.1(TEX14):c.4297G>A (p.Glu1433Lys) SNV Uncertain significance 684770 rs147575609 GRCh37: 17:56636922-56636922
GRCh38: 17:58559561-58559561
22 DNMT3B NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) SNV Uncertain significance 6734 rs121908940 GRCh37: 20:31395599-31395599
GRCh38: 20:32807793-32807793
23 KLHL10 NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr) SNV Uncertain significance 684737 rs61752339 GRCh37: 17:40001580-40001580
GRCh38: 17:41845328-41845328
24 KLHL10 NM_152467.5(KLHL10):c.242A>T (p.Asn81Ile) SNV Uncertain significance 684736 rs36065902 GRCh37: 17:39998122-39998122
GRCh38: 17:41841870-41841870
25 TRIM71 NM_001039111.3(TRIM71):c.553G>T (p.Ala185Ser) SNV Uncertain significance 996342 GRCh37: 3:32860125-32860125
GRCh38: 3:32818633-32818633
26 TRIM71 NM_001039111.3(TRIM71):c.785G>C (p.Gly262Ala) SNV Uncertain significance 996343 GRCh37: 3:32860357-32860357
GRCh38: 3:32818865-32818865
27 TRIM71 NM_001039111.3(TRIM71):c.803T>A (p.Leu268His) SNV Uncertain significance 996344 GRCh37: 3:32860375-32860375
GRCh38: 3:32818883-32818883
28 TRIM71 NM_001039111.3(TRIM71):c.1486C>T (p.Arg496Cys) SNV Uncertain significance 996346 GRCh37: 3:32932182-32932182
GRCh38: 3:32890690-32890690
29 TRIM71 NM_001039111.3(TRIM71):c.1549C>T (p.Arg517Cys) SNV Uncertain significance 996347 GRCh37: 3:32932245-32932245
GRCh38: 3:32890753-32890753
30 TRIM71 NM_001039111.3(TRIM71):c.1613C>G (p.Ala538Gly) SNV Uncertain significance 996348 GRCh37: 3:32932309-32932309
GRCh38: 3:32890817-32890817
31 TRIM71 NM_001039111.3(TRIM71):c.1789G>A (p.Gly597Ser) SNV Uncertain significance 996349 GRCh37: 3:32932485-32932485
GRCh38: 3:32890993-32890993
32 TEX15 NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg) SNV Uncertain significance 684732 rs150606321 GRCh37: 8:30694577-30694577
GRCh38: 8:30837061-30837061
33 REC8 NM_001048205.2(REC8):c.91C>T (p.Arg31Cys) SNV Uncertain significance 684733 rs34075659 GRCh37: 14:24641956-24641956
GRCh38: 14:24172747-24172747
34 M1AP NM_138804.4(M1AP):c.949G>A (p.Gly317Arg) SNV Uncertain significance 805831 rs140179344 GRCh37: 2:74802690-74802690
GRCh38: 2:74575563-74575563
35 M1AP NM_138804.4(M1AP):c.1289T>C (p.Leu430Pro) SNV Uncertain significance 805832 rs762163965 GRCh37: 2:74787411-74787411
GRCh38: 2:74560284-74560284
36 M1AP NM_138804.4(M1AP):c.148T>C (p.Ser50Pro) SNV Uncertain significance 805833 rs1573195678 GRCh37: 2:74867255-74867255
GRCh38: 2:74640128-74640128
37 M1AP NM_138804.4(M1AP):c.1166C>T (p.Pro389Leu) SNV Uncertain significance 805834 rs751126701 GRCh37: 2:74789459-74789459
GRCh38: 2:74562332-74562332
38 TEX15 NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg) SNV Uncertain significance 684768 rs150606321 GRCh37: 8:30694577-30694577
GRCh38: 8:30837061-30837061
39 DMRT1 NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser) SNV Uncertain significance 243009 rs140506267 GRCh37: 9:894044-894044
GRCh38: 9:894044-894044
40 TEX15 NM_001350162.2(TEX15):c.7118G>A (p.Ser2373Asn) SNV Likely benign 684769 rs61738844 GRCh37: 8:30700565-30700565
GRCh38: 8:30843049-30843049
41 MON1B , SYCE1L NM_014940.4(MON1B):c.*1165C>G SNV Likely benign 684734 rs112674196 GRCh37: 16:77233370-77233370
GRCh38: 16:77199473-77199473

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 3:

72
# Symbol AA change Variation ID SNP ID
1 SLC26A8 p.Arg87Gln VAR_070058 rs140210148
2 SLC26A8 p.Glu812Lys VAR_070059 rs142724470
3 SLC26A8 p.Arg954Cys VAR_070060 rs398123027

Copy number variations for Spermatogenic Failure 3 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 266848 Y 11300000 57772954 Microdeletion Asthenozoospermia

Expression for Spermatogenic Failure 3

Search GEO for disease gene expression data for Spermatogenic Failure 3.

Pathways for Spermatogenic Failure 3

Pathways related to Spermatogenic Failure 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.26 STAG3 MSH5 MSH4

GO Terms for Spermatogenic Failure 3

Cellular components related to Spermatogenic Failure 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 condensed nuclear chromosome GO:0000794 8.96 STAG3 MSH4
2 synaptonemal complex GO:0000795 8.62 STAG3 MSH4

Biological processes related to Spermatogenic Failure 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 reciprocal meiotic recombination GO:0007131 9.37 MSH5 MSH4
2 synapsis GO:0007129 9.32 STAG3 MSH4
3 female gamete generation GO:0007292 9.26 MSH4 M1AP
4 meiotic mismatch repair GO:0000710 9.16 MSH5 MSH4
5 mismatch repair GO:0006298 9.13 MSH5-SAPCD1 MSH5 MSH4
6 meiotic cell cycle GO:0051321 8.92 STAG3 SLC26A8 MSH5 MSH4

Molecular functions related to Spermatogenic Failure 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-dependent ATPase activity GO:0008094 8.96 MSH5 MSH4
2 mismatched DNA binding GO:0030983 8.8 MSH5-SAPCD1 MSH5 MSH4

Sources for Spermatogenic Failure 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....