SPGF6
MCID: SPR041
MIFTS: 44

Spermatogenic Failure 6 (SPGF6)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 6

MalaCards integrated aliases for Spermatogenic Failure 6:

Name: Spermatogenic Failure 6 56 12 73 15
Globozoospermia 56 52 25 73 36 29 13 54 6
Acrosome Malformation of Spermatozoa 56 25 73
Round-Headed Spermatozoa 56 25 73
Spermatogenic Failure 9 52 25 71
Spgf6 56 12 73
Male Infertility Due to Round-Headed Spermatozoa 52 58
Male Infertility Due to Globozoospermia 52 58
Round-Headed Sperm Syndrome 52 58
Mae Infertility Due to Round-Headed Spermatozoa 52
Spermatogenic Failure, Type 6 39
Spermatozoa, Round-Headed 56
Globozoospermia, Complete 52
Globozoospermia, Total 52
Spgf9 52

Characteristics:

Orphanet epidemiological data:

58
male infertility due to globozoospermia
Inheritance: Autosomal recessive; Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one ashkenazi jewish family with globozoospermia and spata16 mutation has been described (last curated april 2015)


HPO:

31
spermatogenic failure 6:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders


External Ids:

Disease Ontology 12 DOID:0070167
OMIM 56 102530
OMIM Phenotypic Series 56 PS258150
KEGG 36 H01208
MeSH 43 D007248
ICD10 via Orphanet 33 N46
Orphanet 58 ORPHA171709
MedGen 41 C0403825
SNOMED-CT via HPO 68 236818008 258211005 2904007
UMLS 71 C3151407

Summaries for Spermatogenic Failure 6

NIH Rare Diseases : 52 Globozoospermia is a rare form of male infertility . Men affected by this condition have abnormal sperm with a round (rather than oval) head and no acrosome (a cap-like covering which contains enzymes that break down the outer membrane of an egg cell ). As a result of these abnormalities, the sperm are unable to fertilize an egg cell, leading to male factor infertility. Approximately 70% of men with globozoospermia have changes (mutations ) in the DPY19L2 gene , which are inherited in an autosomal recessive manner. In the remaining cases, the underlying cause of the condition is unknown; however, researchers suspect that mutations in other genes likely cause globozoospermia. Although there is currently no cure for the condition, certain assisted reproductive technologies (ICSI combined with assisted egg cell activation, specifically) can help men affected by the condition conceive children.

MalaCards based summary : Spermatogenic Failure 6, also known as globozoospermia, is related to spermatogenic failure 9 and infertility. An important gene associated with Spermatogenic Failure 6 is SPATA16 (Spermatogenesis Associated 16). The drugs Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include Testis and testes, and related phenotypes are male infertility and globozoospermia

Disease Ontology : 12 A male infertility characterized by autosomal recessive inheritance of globozoospermia that has material basis in mutation in the SPATA16 gene on chromosome 3q26.

Genetics Home Reference : 25 Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia, however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility.

OMIM : 56 Spermatogenic failure-6 is a form of male infertility with globozoospermia. The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (102530)

KEGG : 36 Globozoospermia is a rare form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. Acrosome plays an important role at the site of sperm-zonapellucida binding during the fertilization process. It was suggested that a homozygous mutation in SPATA16 was associated with male infertility in human globozoospermia. It has also been reported that a recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.

UniProtKB/Swiss-Prot : 73 Spermatogenic failure 6: An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon.

Related Diseases for Spermatogenic Failure 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 9 32.4 SPATA16 PICK1 GOPC DPY19L2 CSNK2A2
2 infertility 30.8 SPATA16 DPY19L2 ACR
3 male infertility 30.5 SPATA16 PICK1 DPY19L2 ACR
4 male infertility with teratozoospermia due to single gene mutation 11.2
5 varicocele 10.4
6 polykaryocytosis inducer 10.3
7 partial deletion of y 10.3
8 spermatogenic failure 3 10.1
9 azoospermia 10.1
10 oligospermia 10.1
11 chromosomal triplication 10.1
12 rapidly involuting congenital hemangioma 10.1
13 down syndrome 10.1
14 ring chromosome 2 10.1
15 spermatogenic failure 5 9.8 SPATA16 PICK1 DPY19L2
16 oligoasthenoteratozoospermia 9.7 SPATA16 ACR
17 distal muscular dystrophy with anterior tibial onset 9.4 PRKD1 CSNK2A2

Graphical network of the top 20 diseases related to Spermatogenic Failure 6:



Diseases related to Spermatogenic Failure 6

Symptoms & Phenotypes for Spermatogenic Failure 6

Human phenotypes related to Spermatogenic Failure 6:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 very rare (1%) HP:0003251
2 globozoospermia 31 very rare (1%) HP:0012205
3 decreased acrosin in sperm head 31 HP:0031136

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
infertility
abnormal sperm morphology
oligoasthenoteratozoospermia
globozoospermia, total
reduced or absent acrosin in the acrosome

Clinical features from OMIM:

102530

MGI Mouse Phenotypes related to Spermatogenic Failure 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.61 ACR BICC1 CAV1 CSNK2A2 DPY19L2 GOPC
2 reproductive system MP:0005389 9.28 ACR BICC1 CAV1 CSNK2A2 DPY19L2 GOPC

Drugs & Therapeutics for Spermatogenic Failure 6

Drugs for Spermatogenic Failure 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones
2 Pharmaceutical Solutions
3 Ionophores
4 Calcium, Dietary
5 Ionomycin
6 Calcium Ionophores
7
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Calcium Ionophore Solution on Fertilization Rate During ICSI Cycles of Poor Ovarian Reserve Patients Unknown status NCT02045914
2 COMPARISON BETWEEN IMSI AND ICSI TECHNIQUES WITH DONATED EGGS Completed NCT01316705

Search NIH Clinical Center for Spermatogenic Failure 6

Genetic Tests for Spermatogenic Failure 6

Genetic tests related to Spermatogenic Failure 6:

# Genetic test Affiliating Genes
1 Globozoospermia 29 SPATA16

Anatomical Context for Spermatogenic Failure 6

MalaCards organs/tissues related to Spermatogenic Failure 6:

40
Testis, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Spermatogenic Failure 6:
# Tissue Anatomical CompartmentCell Relevance
1 Testis Seminiferous Tubules Elongated Spermatid Affected by disease

Publications for Spermatogenic Failure 6

Articles related to Spermatogenic Failure 6:

(show top 50) (show all 200)
# Title Authors PMID Year
1
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. 61 6 56
17847006 2007
2
Evaluation and treatment of familial globozoospermia in five brothers. 61 6 56
15533374 2004
3
Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. 61 6
22653751 2012
4
DPY19L2 deletion as a major cause of globozoospermia. 61 6
21397063 2011
5
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. 6 61
21397064 2011
6
Lack of acrosome formation in mice lacking a Golgi protein, GOPC. 61 56
12149515 2002
7
Failure of oocyte activation after intracytoplasmic sperm injection using round-headed sperm. 56 61
9207595 1997
8
Ultrastructural features of round-headed human spermatozoa. 56
1349598 1992
9
Male infertility associated with round-headed acrosomeless spermatozoa. 56
3338587 1988
10
Biochemical and genetic investigation of round-headed spermatozoa in infertile men including two brothers and their father. 56
6380341 1984
11
Acrosin and the acrosome in human spermatogenesis. 56
6357995 1983
12
[Absolute teratozoospermia in a family. Irregular microcephalic spermatozoa without acrosome]. 56
686404 1978
13
A possible haploid effect in acrosome malformations of human spermatozoa. 56
596658 1977
14
On round-headed human spermatozoa. 56
4383 1975
15
[Etiologic analysis of globozoospermia: a 1-case report]. 61 54
16833197 2006
16
Search for mutations involved in human globozoospermia. 61 54
15746197 2005
17
Searching for candidate genes for male infertility. 54 61
12778326 2003
18
Globozoospermia in mice lacking the casein kinase II alpha' catalytic subunit. 54 61
10471512 1999
19
Corrigendum to: Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia. 61
32389181 2020
20
The testis-specific LINC component SUN3 is essential for sperm head shaping during mouse spermiogenesis. 61
32156700 2020
21
Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia. 61
32312381 2020
22
[Analysis of (DPY19L2 gene variant in two brothers affected with globozoospermia]. 61
32219831 2020
23
Assisted oocyte activation with calcium ionophore 44 hours after intracytoplasmic sperm injection resulting in successful pregnancy. 61
32241192 2020
24
Knockout of serine-rich single-pass membrane protein 1 (Ssmem1) causes globozoospermia and sterility in male mice. 61
32301969 2020
25
Globozoospermia syndrome: An update. 61
31724759 2020
26
Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia. 61
31985809 2020
27
Comparison of Human Oocyte Activation Between Round-Headed Sperm Injection Followed by Calcium Ionophore Treatment and Normal Sperm Injection in a Patient With Globozoospermia. 61
32318024 2020
28
Toward Development of the Male Pill: A Decade of Potential Non-hormonal Contraceptive Targets. 61
32161754 2020
29
Proteomic Analysis of Dpy19l2-Deficient Human Globozoospermia Reveals Multiple Molecular Defects. 61
31424156 2019
30
Proteomic Research of Molecular Defects in Globozoospermia. 61
31642202 2019
31
New insights into sperm with total globozoospermia: Increased fatty acid oxidation and centrin1 alteration. 61
31204846 2019
32
Reduction of truncated Kit Expression in Men with Abnormal Semen Parameters, Globozoospermia and History of Low or Fertilization Failure. 61
31210438 2019
33
Reasons that should prompt a referral to a reproductive urologist: guidelines for the gynecologist and reproductive endocrinologist. 61
31723937 2019
34
Comparison of sperm morphology and nuclear sperm quality in SPATA16- and DPY19L2-mutated globozoospermic patients. 61
30912172 2019
35
Embryos derived from couples with consanguineous marriages with globozoospermia should be screened for gender or DPY19L2 deletion. 61
30584989 2019
36
Increase of germ cell nuclear factor expression in globozoospermic Gopc-/- knockout mice. 61
30786176 2019
37
A homozygous RNF220 mutation leads to male infertility with small-headed sperm. 61
30500349 2019
38
A successful healthy childbirth and an ongoing evolutive pregnancy in a case of partial globozoospermia by hyaluronic acid sperm selection. 61
30324675 2019
39
Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility. 61
30333325 2019
40
An Overview of The Globozoospermia as A Multigenic Identified Syndrome. 61
30291685 2019
41
Mouse DCUN1D1 (SCCRO) is required for spermatogenetic individualization. 61
30653527 2019
42
Artificial oocyte activation with calcium ionophore for frozen sperm cycles. 61
29620419 2018
43
Artificial oocyte activation with SrCl2 or calcimycin after ICSI improves clinical and embryological outcomes compared with ICSI alone: results of a randomized clinical trial. 61
30099496 2018
44
AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice. 61
29991750 2018
45
Obstetric and neonatal outcome following ICSI with assisted oocyte activation by calcium ionophore treatment. 61
29392515 2018
46
Prediction of male infertility by the World Health Organization laboratory manual for assessment of semen analysis: A systematic review. 61
29713540 2018
47
Expression of sperm PLCζ and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion. 61
29339016 2018
48
Association between total globozoospermia and sperm chromatin defects. 61
28660655 2018
49
Sperm chromatin quality and DNA integrity in partial versus total globozoospermia. 61
28517043 2018
50
Intracytoplasmic Sperm Injection with Assisted Oocyte Activation Resulting in Successful Pregnancies and Live Birth in Couples with Globozoospermia: A Report of Two Cases. 61
29681719 2018

Variations for Spermatogenic Failure 6

ClinVar genetic disease variations for Spermatogenic Failure 6:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPATA16 NM_031955.6(SPATA16):c.53A>G (p.His18Arg)SNV Conflicting interpretations of pathogenicity 774303 3:172835469-172835469 3:173117679-173117679
2 SPATA16 NM_031955.6(SPATA16):c.736C>T (p.Leu246Phe)SNV Conflicting interpretations of pathogenicity 790548 3:172766761-172766761 3:173048971-173048971
3 SPATA16 NM_031955.6(SPATA16):c.1588-2A>GSNV Uncertain significance 631916 rs757711631 3:172607484-172607484 3:172889694-172889694
4 SPATA16 NM_031955.6(SPATA16):c.*92A>GSNV Uncertain significance 901936 3:172607268-172607268 3:172889478-172889478
5 SPATA16 NM_031955.6(SPATA16):c.*138C>ASNV Uncertain significance 901935 3:172607222-172607222 3:172889432-172889432
6 SPATA16 NM_031955.6(SPATA16):c.*157C>TSNV Uncertain significance 901934 3:172607203-172607203 3:172889413-172889413
7 SPATA16 NM_031955.6(SPATA16):c.105G>A (p.Ala35=)SNV Uncertain significance 344226 rs141312480 3:172835417-172835417 3:173117627-173117627
8 SPATA16 NM_031955.6(SPATA16):c.576C>T (p.Tyr192=)SNV Uncertain significance 344217 rs146363552 3:172834946-172834946 3:173117156-173117156
9 SPATA16 NM_031955.6(SPATA16):c.1117G>A (p.Asp373Asn)SNV Uncertain significance 344210 rs763912965 3:172643247-172643247 3:172925457-172925457
10 SPATA16 NM_031955.6(SPATA16):c.328A>C (p.Met110Leu)SNV Uncertain significance 344222 rs147011314 3:172835194-172835194 3:173117404-173117404
11 SPATA16 NM_031955.6(SPATA16):c.828G>A (p.Glu276=)SNV Uncertain significance 344214 rs776236874 3:172737296-172737296 3:173019506-173019506
12 SPATA16 NM_031955.6(SPATA16):c.873G>A (p.Met291Ile)SNV Uncertain significance 344212 rs368670834 3:172694818-172694818 3:172977028-172977028
13 SPATA16 NM_031955.6(SPATA16):c.995C>T (p.Ala332Val)SNV Uncertain significance 344211 rs544088248 3:172674553-172674553 3:172956763-172956763
14 SPATA16 NM_031955.6(SPATA16):c.1324A>G (p.Ser442Gly)SNV Uncertain significance 344208 rs886058186 3:172642012-172642012 3:172924222-172924222
15 SPATA16 NM_031955.6(SPATA16):c.1513C>T (p.Leu505=)SNV Uncertain significance 344205 rs758141708 3:172631525-172631525 3:172913735-172913735
16 SPATA16 NM_031955.6(SPATA16):c.91A>T (p.Met31Leu)SNV Uncertain significance 344228 rs200087565 3:172835431-172835431 3:173117641-173117641
17 SPATA16 NM_031955.6(SPATA16):c.430A>C (p.Met144Leu)SNV Uncertain significance 344220 rs140920981 3:172835092-172835092 3:173117302-173117302
18 SPATA16 NM_031955.6(SPATA16):c.546T>C (p.Asp182=)SNV Uncertain significance 344218 rs886058187 3:172834976-172834976 3:173117186-173117186
19 SPATA16 NM_031955.6(SPATA16):c.25T>C (p.Leu9=)SNV Uncertain significance 344229 rs150041488 3:172835497-172835497 3:173117707-173117707
20 SPATA16 NM_031955.6(SPATA16):c.104C>T (p.Ala35Val)SNV Uncertain significance 344227 rs200483368 3:172835418-172835418 3:173117628-173117628
21 SPATA16 NM_031955.6(SPATA16):c.1401G>T (p.Gln467His)SNV Uncertain significance 344206 rs143774140 3:172634209-172634209 3:172916419-172916419
22 SPATA16 NM_031955.6(SPATA16):c.-142G>ASNV Uncertain significance 344232 rs566046620 3:172859016-172859016 3:173141226-173141226
23 SPATA16 NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln)SNV Uncertain significance 1411 rs137853118 3:172737276-172737276 3:173019486-173019486
24 SPATA16 NM_031955.6(SPATA16):c.613-13A>GSNV Uncertain significance 901438 3:172766897-172766897 3:173049107-173049107
25 SPATA16 NM_031955.6(SPATA16):c.1503+15T>CSNV Uncertain significance 902835 3:172634092-172634092 3:172916302-172916302
26 SPATA16 NM_031955.6(SPATA16):c.-2C>TSNV Uncertain significance 902898 3:172835523-172835523 3:173117733-173117733
27 SPATA16 NM_031955.6(SPATA16):c.117C>T (p.Asn39=)SNV Uncertain significance 902897 3:172835405-172835405 3:173117615-173117615
28 SPATA16 NM_031955.6(SPATA16):c.205A>G (p.Ile69Val)SNV Uncertain significance 902004 3:172835317-172835317 3:173117527-173117527
29 SPATA16 NM_031955.6(SPATA16):c.251G>A (p.Arg84Gln)SNV Uncertain significance 902003 3:172835271-172835271 3:173117481-173117481
30 SPATA16 NM_031955.6(SPATA16):c.406C>T (p.Arg136Cys)SNV Uncertain significance 902002 3:172835116-172835116 3:173117326-173117326
31 SPATA16 NM_031955.6(SPATA16):c.430A>G (p.Met144Val)SNV Uncertain significance 901440 3:172835092-172835092 3:173117302-173117302
32 SPATA16 NM_031955.6(SPATA16):c.490C>T (p.His164Tyr)SNV Uncertain significance 901439 3:172835032-172835032 3:173117242-173117242
33 SPATA16 NM_031955.6(SPATA16):c.719G>A (p.Arg240Gln)SNV Uncertain significance 900278 3:172766778-172766778 3:173048988-173048988
34 SPATA16 NM_031955.6(SPATA16):c.750T>C (p.His250=)SNV Uncertain significance 900277 3:172766747-172766747 3:173048957-173048957
35 SPATA16 NM_031955.6(SPATA16):c.996G>A (p.Ala332=)SNV Uncertain significance 900276 3:172674552-172674552 3:172956762-172956762
36 SPATA16 NM_031955.6(SPATA16):c.1361G>A (p.Gly454Asp)SNV Uncertain significance 902837 3:172634249-172634249 3:172916459-172916459
37 SPATA16 NM_031955.6(SPATA16):c.1389C>A (p.Ser463Arg)SNV Uncertain significance 902836 3:172634221-172634221 3:172916431-172916431
38 SPATA16 NM_031955.6(SPATA16):c.1577T>C (p.Met526Thr)SNV Likely benign 901937 3:172631461-172631461 3:172913671-172913671
39 SPATA16 NM_031955.6(SPATA16):c.-121G>ASNV Likely benign 344230 rs189972919 3:172858995-172858995 3:173141205-173141205
40 SPATA16 NM_031955.6(SPATA16):c.1365G>T (p.Val455=)SNV Likely benign 344207 rs199707743 3:172634245-172634245 3:172916455-172916455
41 SPATA16 NM_031955.6(SPATA16):c.1526C>T (p.Ala509Val)SNV Likely benign 344204 rs115095786 3:172631512-172631512 3:172913722-172913722
42 SPATA16 NM_031955.6(SPATA16):c.1143A>G (p.Gln381=)SNV Likely benign 344209 rs73041295 3:172643221-172643221 3:172925431-172925431
43 SPATA16 NM_031955.6(SPATA16):c.149A>G (p.Asn50Ser)SNV Benign/Likely benign 344224 rs16846624 3:172835373-172835373 3:173117583-173117583
44 SPATA16 NM_031955.6(SPATA16):c.232G>A (p.Glu78Lys)SNV Benign 344223 rs1515441 3:172835290-172835290 3:173117500-173117500
45 SPATA16 NM_031955.6(SPATA16):c.397A>G (p.Met133Val)SNV Benign 344221 rs1515442 3:172835125-172835125 3:173117335-173117335
46 SPATA16 NM_031955.6(SPATA16):c.440G>A (p.Gly147Glu)SNV Benign 344219 rs16846616 3:172835082-172835082 3:173117292-173117292
47 SPATA16 NM_031955.6(SPATA16):c.130T>A (p.Ser44Thr)SNV Benign 344225 rs146572379 3:172835392-172835392 3:173117602-173117602
48 SPATA16 NM_031955.6(SPATA16):c.675C>T (p.Ser225=)SNV Benign 344216 rs508508 3:172766822-172766822 3:173049032-173049032
49 SPATA16 NM_031955.6(SPATA16):c.720G>A (p.Arg240=)SNV Benign 344215 rs55724801 3:172766777-172766777 3:173048987-173048987

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 6:

73
# Symbol AA change Variation ID SNP ID
1 SPATA16 p.Arg283Gln VAR_038334 rs137853118

Expression for Spermatogenic Failure 6

Search GEO for disease gene expression data for Spermatogenic Failure 6.

Pathways for Spermatogenic Failure 6

GO Terms for Spermatogenic Failure 6

Cellular components related to Spermatogenic Failure 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.02 SPATA16 PRKD1 PICK1 GOPC CAV1
2 endocytic vesicle membrane GO:0030666 8.96 PICK1 CAV1

Biological processes related to Spermatogenic Failure 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 8.96 NODAL BICC1
2 peptidyl-threonine phosphorylation GO:0018107 8.62 PRKD1 CSNK2A2

Sources for Spermatogenic Failure 6

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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