SPGF3
MCID: SPR086
MIFTS: 44

Spermatogenic Failure 3 (SPGF3)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 3

MalaCards integrated aliases for Spermatogenic Failure 3:

Name: Spermatogenic Failure 3 56 12 73 29 13 6
Spgf3 56 12 73
Spermatogenic Failure, Type 3 39
Azoospermia, Nonobstructive 71
Asthenozoospermia 43

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
spermatogenic failure 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070168
OMIM 56 606766
OMIM Phenotypic Series 56 PS258150
MeSH 43 D053627
SNOMED-CT via HPO 68 15296000 263681008 8619003
UMLS 71 C1847540

Summaries for Spermatogenic Failure 3

UniProtKB/Swiss-Prot : 73 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 due to sperm motility disorder. An important gene associated with Spermatogenic Failure 3 is SLC26A8 (Solute Carrier Family 26 Member 8). The drugs Tocopherol and Letrozole have been mentioned in the context of this disorder. Affiliated tissues include testes, testis and prostate, and related phenotype is infertility.

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 : 56 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)

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

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 non-syndromic male infertility due to sperm motility disorder 32.0 SLC26A8 CFAP251
2 male infertility due to sperm motility disorder 11.6
3 oligoasthenoteratozoospermia 11.6
4 spermatogenic failure 39 11.5
5 spermatogenic failure 11 11.4
6 spermatogenic failure 41 11.2
7 male infertility 10.9
8 infertility 10.8
9 azoospermia 10.5
10 varicocele 10.4
11 primary ciliary dyskinesia 10.4
12 oligospermia 10.3
13 rapidly involuting congenital hemangioma 10.3
14 tubulin, beta 10.2
15 prostatitis 10.2
16 cystic fibrosis 10.0
17 vas deferens, congenital bilateral aplasia of 10.0
18 body mass index quantitative trait locus 11 10.0
19 glycerol kinase 2 10.0
20 body mass index quantitative trait locus 9 10.0
21 body mass index quantitative trait locus 8 10.0
22 body mass index quantitative trait locus 4 10.0
23 body mass index quantitative trait locus 10 10.0
24 body mass index quantitative trait locus 7 10.0
25 body mass index quantitative trait locus 12 10.0
26 body mass index quantitative trait locus 14 10.0
27 body mass index quantitative trait locus 18 10.0
28 hyperprolactinemia 10.0
29 body mass index quantitative trait locus 19 10.0
30 body mass index quantitative trait locus 20 10.0
31 spermatogenic failure 42 10.0
32 kartagener syndrome 10.0
33 rickets 10.0
34 microcephaly 10.0
35 spermatocele 10.0
36 gonadal dysgenesis 10.0
37 y chromosome infertility 10.0
38 dentinogenesis imperfecta type 2 10.0
39 partial deletion of y 10.0
40 hypoxia 10.0
41 bladder urothelial carcinoma 9.4 HOTAIR DNMT3B
42 leukemia, acute myeloid 9.0 HOTAIR FOXP3 DNMT3B
43 esophageal cancer 8.9 HOTAIR FOXP3 DNMT3B

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:

56
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

Drugs & Therapeutics for Spermatogenic Failure 3

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

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2, 54-28-4 14986
2
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
3
Sodium citrate Approved, Investigational Phase 3 68-04-2
4
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
5
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
6 Tocotrienol Investigational Phase 2, Phase 3 6829-55-6
7
Enclomiphene Investigational Phase 3 15690-57-0
8 Follicle Stimulating Hormone Phase 3
9 Trace Elements Phase 2, Phase 3
10 Micronutrients Phase 2, Phase 3
11 Nutrients Phase 2, Phase 3
12 Omega 3 Fatty Acid Phase 2, Phase 3
13 Tocopherols Phase 2, Phase 3
14 Tocotrienols Phase 2, Phase 3
15 Protective Agents Phase 2, Phase 3
16 Aromatase Inhibitors Phase 3
17 Hematinics Phase 2, Phase 3
18 Hormones Phase 3
19 Estrogen Receptor Antagonists Phase 3
20 Estrogen Antagonists Phase 3
21 Hormone Antagonists Phase 3
22 Estrogens Phase 3
23 Citrate Phase 3
24 Estrogen Receptor Modulators Phase 3
25 Clomiphene Phase 3
26 Zuclomiphene Phase 3
27
Goserelin Approved Phase 2 65807-02-5 5311128 47725
28
Zinc Approved, Investigational Phase 2 7440-66-6 32051
29
Zinc sulfate Approved, Investigational Phase 2 7733-02-0
30 Antineoplastic Agents, Hormonal Phase 2
31 Chorionic Gonadotropin Phase 2
32 Dermatologic Agents Phase 2
33
Pentoxifylline Approved, Investigational 6493-05-6 4740
34
Nitric Oxide Approved 10102-43-9 145068
35
Nicotine Approved 54-11-5 942 89594
36 Tangerine Approved
37
leucovorin Approved 58-05-9 6006 143
38
Methylcobalamin Approved, Investigational 13422-55-4
39
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
40 English walnut Approved
41
Testosterone Approved, Experimental, Investigational 58-22-0, 481-30-1 10204 6013
42
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
43
Polyestradiol phosphate Approved 28014-46-2
44
Ramipril Approved 87333-19-5 5362129
45
Ginseng Approved, Investigational, Nutraceutical 50647-08-0
46
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
47
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
48
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
49
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
50
Resveratrol Investigational 501-36-0 445154

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Follicle-stimulating Hormone Treatment for Infertile Male Patients With Non-obstructive Azoospermia: a Multicenter Randomized Clinical Trial Unknown status NCT02275169 Phase 3 Urofollitropin
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 Letrozole on Seminal Parameters in Men With Non Obstructive Azoospermia and Severe Oligozoospermia. Completed NCT02900105 Phase 3 Letrozole
4 Effect of Treatment With Myo-inositol on Human Semen Parameters in Patients Undergoing IVF Cycles Completed NCT01828710 Phase 2, Phase 3
5 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
6 GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia: A Single-center Prospective Study in China Unknown status NCT02544191 Phase 2 GnRHa/ hCG/ hMG
7 Study of the Effect of Oral Zinc Supplementation on Superoxide Radical Scavengers in Spermatozoa of Patients With Asthenospermia Completed NCT02217189 Phase 2
8 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
9 Predictors for Successful Sperm Reterival by Testicular Sperm Extraxtion(TESE) in Patients With Non Obstructive Azospermia Unknown status NCT03146260
10 Multicenter, Randomized, Double-blind, Placebo-controlled Clinical Trial for Evaluation of Sperm Motility Improvement Effect of Fermented Ginseng(GINST) Unknown status NCT03183999
11 Effect of Dietary Supplementation With Omega-3 Fatty Acids on Human Sperm Characteristics, a Preliminary Study Unknown status NCT00479960 Early Phase 1
12 Seminal TEX101 as a Predictor of Recovery of Spermatogenesis in Azoospermic Men With Palpable Varicocele Completed NCT04397887
13 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
14 Study the Effect of Oral Zinc Supplementation on High Molecular Weight Zinc Binding Protein in Semen Completed NCT01612403
15 Study the Effect of Oral Zinc Supplementation on Enzymes of Nitric Oxide Pathway Completed NCT01684059
16 Male Infertility and Complementary Treatment Completed NCT03463005
17 Sperms Activation by Direct Electrical Shocks on Testis in Infertile Males Completed NCT04173052
18 Factors Associated With Quit Intention Among Male Smokers Whose Partner Got Pregnant: An Exploration Study Completed NCT03401021
19 The Effectiveness of a Video-led Smoking Cessation Intervention in Helping Male Smokers in Mainland China Whose Partner Got Pregnant to Quit Smoking: A Randomized Control Trial Completed NCT03236025
20 The Potential of Sperm Retrieved by Micro-TESE to Fertilize Vitrified/Warmed Oocytes Recruiting NCT03809026
21 The Effects of Intratesticular PRP Injection Recruiting NCT04237779
22 Retrieval of Sperm From Men With Azoospermia Using Ultrasound-guided Rete Testis Aspiration Recruiting NCT03291522
23 Evaluation of Treatment With Trans-resveratrol, Folic Acid, Vitamin D, Vitamin B12 and B6 in Men With Infertility Recruiting NCT03864198
24 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
25 Effect of Walnuts on Sperm Parameters and Male Fertility Active, not recruiting NCT01954498
26 Seminal Level of Clusterin & Serum Testosterone/Estradiol Ratio in Infertile Men as a Predictor for Spermatogenesis Before Testicular Sperm Extraction Not yet recruiting NCT03857828
27 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
Testes, Testis, Prostate, Spinal Cord, Kidney, Endothelial, Thyroid

Publications for Spermatogenic Failure 3

Articles related to Spermatogenic Failure 3:

(show top 50) (show all 806)
# Title Authors PMID Year
1
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. 6 61 56
23582645 2013
2
A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia. 56
22541561 2012
3
Susceptibility gene for non-obstructive azoospermia located near HLA-DR and -DQ loci in the HLA class II region. 56
11935327 2002
4
Genetic aspects of idiopathic asthenozoospermia as a cause of male infertility. 61
30198353 2020
5
Effects of Vitamin D on Apoptosis and Quality of Sperm in Asthenozoospermia. 61
32511900 2020
6
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
7
Optimization of microRNA Acquirement from Seminal Plasma and Identification of Diminished Seminal microRNA-34b as Indicator of Low Semen Concentration. 61
32521662 2020
8
Mitochondria, spermatogenesis, and male infertility - an update. 61
32534048 2020
9
Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics. 61
32503832 2020
10
Causes and consequences of sperm mitochondrial dysfunction. 61
32510691 2020
11
The possible role of NF-κB1 Rs28362491 polymorphism in male fertility of Egyptian population. 61
32441399 2020
12
Role of exosomes in the exchange of spermatozoa after leaving the seminiferous tubule. A review. 61
32433001 2020
13
Use of Biosimilar Follicle-Stimulating Hormone in Asthenozoospermic Infertile Patients: A Multicentric Study. 61
32423110 2020
14
Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new? 61
31210147 2020
15
D-Chiro-Inositol Improves Sperm Mitochondrial Membrane Potential: In Vitro Evidence. 61
32392776 2020
16
Metabolomic characterization of semen from asthenozoospermic patients using ultra-high-performance liquid chromatography-tandem quadrupole time-of-flight mass spectrometry. 61
32428267 2020
17
Seminal plasma vitamin B6 levels in men with asthenozoospermia and men with normal sperm motility, a measurement using liquid chromatography with tandem mass spectrometry. 61
32129519 2020
18
DNAH17 is associated with asthenozoospermia and multiple morphological abnormalities of sperm flagella. 61
31841227 2020
19
First custom next-generation sequencing infertility panel in Latin America: design and first results. 61
32155011 2020
20
Effects of coadministration of DHA and vitamin E on spermatogram, seminal oxidative stress, and sperm phospholipids in asthenozoospermic men: a randomized controlled trial. 61
32453396 2020
21
Haploid male germ cells-the Grand Central Station of protein transport. 61
32318721 2020
22
[The effect of polymorphisms C677T and 1298 gene MTHFR on the reproductive function of men]. 61
32351067 2020
23
Knockout of serine-rich single-pass membrane protein 1 (Ssmem1) causes globozoospermia and sterility in male mice. 61
32301969 2020
24
MiR-4485-3p expression reduced in spermatozoa of men with idiopathic asthenozoospermia. 61
32030798 2020
25
MicroRNAs association with azoospermia, oligospermia, asthenozoospermia, and teratozoospermia: a systematic review. 61
32189180 2020
26
Large-scale mtDNA deletions as genetic biomarkers for susceptibility to male infertility: A systematic review and meta-analysis. 61
32360203 2020
27
The expression of Cysteine-Rich Secretory Protein 2 (CRISP2) and miR-582-5p in seminal plasma fluid and spermatozoa of infertile men. 61
31778754 2020
28
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility. 61
32161152 2020
29
Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia. 61
31342671 2020
30
Metabolic and transcriptional changes in seminal plasma of asthenozoospermia patients. 61
31808565 2020
31
Asthenozoospermia: Cellular and molecular contributing factors and treatment strategies. 61
31680293 2020
32
[Clinical effect of acupuncture combined with traditional Chinese medicine in treatment of oligozoospermia/asthenozoospermia: a meta-analysis]. 61
32202718 2020
33
Curcumin improves asthenozoospermia by inhibiting reactive oxygen species reproduction through nuclear factor erythroid 2-related factor 2 activation. 61
31797403 2020
34
Mosaic Ring-like Small Supernumerary Marker Chromosome and Gene Mutation in a Male With Intermittent Azoospermia: A Rare Case Report. 61
32321348 2020
35
Unraveling the Footsteps of Proteomics in Male Reproductive Research: A Scientometric Approach. 61
31861964 2020
36
Posttranslational lysine 2-hydroxyisobutyrylation of human sperm tail proteins affects motility. 61
32142584 2020
37
Human sperm phosphoproteome reveals differential phosphoprotein signatures that regulate human sperm motility. 61
31972345 2020
38
The potential impact of tumor suppressor genes on human gametogenesis: a case-control study. 61
31792669 2020
39
A DNAH17 missense variant causes flagella destabilization and asthenozoospermia. 61
31658987 2020
40
Effectiveness and Safety Evaluation of Qixiong Zhongzi Decoction () in Idiopathic Asthenozoospermia Treatment: A Randomized Controlled Trial. 61
31997237 2020
41
Impact of Vitamin D Supplementation on Semen Quality in Vitamin D-Deficient Infertile Males with Oligoasthenozoospermia. 61
32030005 2020
42
Gene transcription profiling of astheno- and normo-zoospermic sperm subpopulations. 61
32167074 2020
43
4,977-bp human mitochondrial DNA deletion is associated with asthenozoospermic infertility in Jordan. 61
31746488 2020
44
Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD. 61
31942643 2020
45
Effect of Zinc Supplementation on Urate Pathway Enzymes in Spermatozoa and Seminal Plasma of Iraqi Asthenozoospermic Patients: A Randomized Controlled Trial. 61
31710193 2020
46
Evaluation of Sperm Mitochondrial Function: A Key Organelle for Sperm Motility. 61
32013061 2020
47
Motility enhancement of human spermatozoa using electrical stimulation in the nano-Ampere range with enzymatic biofuel cells. 61
32078626 2020
48
Combination therapy with antioxidants improves total motile sperm counts: A Preliminary Study. 61
31956290 2020
49
The genetic architecture of morphological abnormalities of the sperm tail. 61
31950240 2020
50
Expression and Methylation Pattern of hsa-miR-34 Family in Sperm Samples of Infertile Men. 61
32046388 2020

Variations for Spermatogenic Failure 3

ClinVar genetic disease variations for Spermatogenic Failure 3:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFAP251 NM_144668.6(CFAP251):c.1588_1589del (p.Leu530fs)deletion Pathogenic 545693 rs1565912409 12:122395032-122395033 12:121957126-121957127
2 FOXP3 NM_014009.4(FOXP3):c.691C>A (p.Gln231Lys)SNV Pathogenic 810691 X:49112220-49112220 X:49255759-49255759
3 DNMT3B NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met)SNV Pathogenic 6734 rs121908940 20:31395599-31395599 20:32807793-32807793
4 SLC26A8 NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln)SNV Pathogenic 50909 rs140210148 6:35980078-35980078 6:36012301-36012301
5 SLC26A8 NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys)SNV Pathogenic 50910 rs142724470 6:35918978-35918978 6:35951201-35951201
6 SLC26A8 NM_052961.4(SLC26A8):c.2860C>T (p.Arg954Cys)SNV Pathogenic 50911 rs398123027 6:35911730-35911730 6:35943953-35943953
7 NPAS2 NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala)SNV Likely pathogenic 242856 rs879253743 2:101592000-101592000 2:100975538-100975538
8 STAG3 NM_001282716.1(STAG3):c.1262T>G (p.Leu421Arg)SNV Likely pathogenic 617739 7:99796115-99796115 7:100198492-100198492
9 STAG3 NM_001282716.1(STAG3):c.1312C>T (p.Arg438Ter)SNV Likely pathogenic 617740 7:99796165-99796165 7:100198542-100198542
10 REC8 NM_001048205.2(REC8):c.91C>T (p.Arg31Cys)SNV Likely pathogenic 684733 14:24641956-24641956 14:24172747-24172747
11 M1AP NM_001321739.2(M1AP):c.676dup (p.Trp226fs)duplication Likely pathogenic 805830 2:74808893-74808894 2:74581766-74581767
12 M1AP NM_001321739.2(M1AP):c.148T>C (p.Ser50Pro)SNV Uncertain significance 805833 2:74867255-74867255 2:74640128-74640128
13 KLHL10 NM_152467.5(KLHL10):c.242A>T (p.Asn81Ile)SNV Uncertain significance 684736 17:39998122-39998122 17:41841870-41841870
14 M1AP NM_001321739.2(M1AP):c.1289T>C (p.Leu430Pro)SNV Uncertain significance 805832 2:74787411-74787411 2:74560284-74560284
15 M1AP NM_001321739.2(M1AP):c.1166C>T (p.Pro389Leu)SNV Uncertain significance 805834 2:74789459-74789459 2:74562332-74562332
16 M1AP NM_001321739.2(M1AP):c.949G>A (p.Gly317Arg)SNV Uncertain significance 805831 2:74802690-74802690 2:74575563-74575563
17 DMRT1 NM_021951.3(DMRT1):c.671A>G (p.Asn224Ser)SNV Likely benign 243009 rs140506267 9:894044-894044 9:894044-894044
18 TEX15 NM_001350162.2(TEX15):c.9223G>A (p.Gly3075Arg)SNV Likely benign 684768 8:30694577-30694577 8:30837061-30837061
19 KLHL10 NM_152467.5(KLHL10):c.887T>C (p.Ile296Thr)SNV Benign 684737 17:40001580-40001580 17:41845328-41845328
20 TEX14 NM_001201457.1(TEX14):c.727C>G (p.Gln243Glu)SNV Benign 684771 17:56693594-56693594 17:58616233-58616233
21 SYCE1L NM_014940.4(MON1B):c.*1165C>GSNV Benign 684734 16:77233370-77233370 16:77199473-77199473
22 FOXP3 NM_014009.4(FOXP3):c.155G>T (p.Gly52Val)SNV Benign 712945 X:49114808-49114808 X:49258351-49258351
23 TEX14 NM_001201457.1(TEX14):c.4297G>A (p.Glu1433Lys)SNV no interpretation for the single variant 684770 17:56636922-56636922 17:58559561-58559561
24 TEX15 NM_001350162.2(TEX15):c.7118G>A (p.Ser2373Asn)SNV no interpretation for the single variant 684769 8:30700565-30700565 8:30843049-30843049

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

73
# 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

GO Terms for Spermatogenic Failure 3

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

# Name GO ID Score Top Affiliating Genes
1 flagellated sperm motility GO:0030317 8.62 SLC26A8 CFAP251

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

# Name GO ID Score Top Affiliating Genes
1 transcription corepressor activity GO:0003714 8.96 FOXP3 DNMT3B
2 histone deacetylase binding GO:0042826 8.62 FOXP3 DNMT3B

Sources for Spermatogenic Failure 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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