Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	199720
Gene name	Gametogenetin
Gene symbol	GGN
Synonyms (NCBI Gene)	-
Chromosome	19
Chromosome location	19q13.2
Summary	This gene is a germ cell-specific gene that encodes proteins that interact with POG (proliferation of germ cells). Alternatively spliced transcript variants of a similar mouse gene encode at least three different proteins, namely gametogenetin protein 1a,

miRTarBase ID	miRNA	Experiments
MIRT2388438	hsa-miR-4271	CLIP-seq
MIRT2388439	hsa-miR-4725-3p	CLIP-seq
MIRT2388440	hsa-miR-4747-5p	CLIP-seq

7 Show/Hide all (7)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0006302	Process	Double-strand break repair	IEA
GO:0007276	Process	Gamete generation	IEA
GO:0007276	Process	Gamete generation	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IBA

MIM	HGNC	e!Ensembl
609966	18869	ENSG00000179168

Q86UU5

Protein name

Gametogenetin

Protein function

May be involved in spermatogenesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15685	GGN	2 → 652	Gametogenetin	Family

Sequence

MGNLQSEPSAGGGSRKVQPSDRAPDSRRTSLVEPEMTSQAMRLTRGLGVWFPGSATPPGL
MVPREPQASPSTLPLTLERPSPVMPPPEEAAAVSAPPPAPAGTLLPGPSKWQKPAGTPVP
RIRRLLEASHRGQGDPPSLRPLKPPPPPRQLSVKDTVPRAPSQFPPPLETWKPPPPLPSE
RQPADRRITPALATPASPPTESQAGPRNQGQTAGRARGGAPPHAGEGEMAQPADSESGLS
LLCKITFKSRPSLAPPAASSSLAAKASLGGGGGGGLFAASGAISYAEVLKQGPLPPGAAR
PLGEVSRGAQEAEGGDGDGEGCSGPPSAPASQARALPPPPYTTFPGSKPKFDWVSAPDGP
ERHFRFNGAGGGIGAPRRRAAALSGPWGSPPPPPEQIHSAPGPRRPAPALLAPPTFIFPA
PTNGEPMRPGPPGLQELPPLPPPTPPPTLQPPALQPTPLPVAPPLTPGLGHKESALAPTA
APALPPALAADQAPAPSPAPAPTVAEPSPPVSAPAPAAAPIKTRTRRNKGSRAARGATRK
DGLHGDGPRERATATVPDSSGGGGGGSGASQTGAANTRAARHWLPFQVLNSCPCKCYCHH
QPRHRRLPRNVSAWLSTSTNHLGEPPWVATIKLSGSLVAKLEHYDLQATHSN

Sequence length

652

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 69	Pathogenic	rs751658286, rs2145140504	RCV002221168 RCV002221169	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GGN-related disorder	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO GLOBOZOOSPERMIA	—	Orphanet	31985809	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO ROUND-HEADED SPERMATOZOA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	38632662	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	38632662	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	30450530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30721393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30721393	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	31030566		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30450530		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ZPBP	3	["Male infertility globozoospermia","Male infertility round headed spermatozoa","Spermatogenic failure"]	[]	5	["Orphanet (Male infertility globozoospermia)","Disgenet (Male infertility round headed spermatozoa)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
DPY19L2	3	["Male infertility globozoospermia","Male infertility round headed spermatozoa","Spermatogenic failure"]	[]	5	["Orphanet (Male infertility globozoospermia)","Disgenet (Male infertility round headed spermatozoa)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
CATSPERT	2	["Male infertility globozoospermia","Spermatogenic failure"]	[]	3	["Orphanet (Male infertility globozoospermia)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
C2CD6	2	["Male infertility round headed spermatozoa","Spermatogenic failure"]	[]	2	["Disgenet (Male infertility round headed spermatozoa)","Disgenet (Spermatogenic failure)"]
SPATA16	3	["Male infertility globozoospermia","Male infertility round headed spermatozoa","Spermatogenic failure"]	[]	4	["Orphanet (Male infertility globozoospermia)","Disgenet (Male infertility round headed spermatozoa)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)"]

GGN (gametogenetin)

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