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UniProtKB - O60383 (GDF9_HUMAN)

Entry version 160 (07 Oct 2020)
Sequence version 1 (01 Aug 1998)
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Protein

Growth/differentiation factor 9

Gene

GDF9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Required for ovarian folliculogenesis. Promotes primordial follicle development. Stimulates granulosa cell proliferation. Promotes cell transition from G0/G1 to S and G2/M phases, through an increase of CCND1 and CCNE1 expression, and RB1 phosphorylation. It regulates STAR expression and cAMP-dependent progesterone release in granulosa and thecal cells. Attenuates the suppressive effects of activin A on STAR expression and progesterone production by increasing the expression of inhibin B. It suppresses FST and FSTL3 production in granulosa-lutein cells.5 Publications

Miscellaneous

Ovarian physiology and fertility are controlled by endocrine and paracrine signals. These act in a species-dependent manner and determine the ovulation quota in different mammalian species. While humans, and mammals such as the cow or red deer, normally ovulate only one egg per cycle, other mammals such as mouse and pig can ovulate in excess of ten per cycle. The mechanisms that regulate the species-specific differences in the number of follicles that go onto ovulate during each reproductive cycle are poorly understood. According to PubMed:21970812, mRNA expression levels of GDF9 and BMP15 are tightly coregulated within each species and influence species-specific ovulation-rates.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCytokine, Growth factor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O60383

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Growth/differentiation factor 9
Short name:
GDF-9
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GDF9
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000164404.8

Human Gene Nomenclature Database

More...HGNCi		HGNC:4224, GDF9

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601918, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O60383

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Altered GDF9 function may be involved in ovarian disorders and contribute to the likelihood of dizygotic twinning.1 Publication
Premature ovarian failure 14 (POF14)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06693457D → Y in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138136756Ensembl.1
Natural variantiVAR_05894567K → E in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_066935103P → S in POF14; unknown pathological significance; also found at higher frequency in mothers of dizygotic twins than in controls. 2 PublicationsCorresponds to variant dbSNP:rs61754583Ensembl.1
Natural variantiVAR_066937146R → C in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs76349024Ensembl.1
Natural variantiVAR_058946186S → Y in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_058947216V → M in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1205723048Ensembl.1
Natural variantiVAR_066938238T → A in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_066940428S → T in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118080183Ensembl.1

Keywords - Diseasei

Premature ovarian failure

Organism-specific databases

DisGeNET

More...DisGeNETi		2661

MalaCards human disease database

More...MalaCardsi		GDF9
MIMi618014, phenotype

Open Targets

More...OpenTargetsi		ENSG00000164404

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		619, NON RARE IN EUROPE: Primary ovarian failure

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28639

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O60383, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GDF9

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000003398025 – 319Sequence analysisAdd BLAST295
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000033981320 – 454Growth/differentiation factor 9Add BLAST135

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi106N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi163N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi236N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi255N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi268N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei325Phosphoserine; by CK1 Publication1
Glycosylationi338N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi353 ↔ 419By similarity
Disulfide bondi382 ↔ 451By similarity
Disulfide bondi386 ↔ 453By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated; phosphorylation is critical for GDF9 function. In vitro, can be phosphorylated by CK at Ser-325.2 Publications

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O60383

PeptideAtlas

More...PeptideAtlasi		O60383

PRoteomics IDEntifications database

More...PRIDEi		O60383

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49386

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O60383, 6 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O60383

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O60383

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in ovarian granulosa cells. Present in oocytes of primary follicles (at protein level).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000164404, Expressed in oocyte and 117 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O60383, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O60383, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000164404, Group enriched (epididymis, testis)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer or heterodimer (Potential). But, in contrast to other members of this family, cannot be disulfide-linked (By similarity).

By similarityCurated

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108930, 51 interactors

Protein interaction database and analysis system

More...IntActi		O60383, 50 interactors

Molecular INTeraction database

More...MINTi		O60383

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000367942

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O60383, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TGF-beta family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3900, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159784

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O60383

KEGG Orthology (KO)

More...KOi		K22673

Identification of Orthologs from Complete Genome Data

More...OMAi		LKLDHWI

Database of Orthologous Groups

More...OrthoDBi		724783at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O60383

TreeFam database of animal gene trees

More...TreeFami		TF351788

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.10.90.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029034, Cystine-knot_cytokine
IPR015617, Growth_differentiation_fac-9
IPR001839, TGF-b_C
IPR015615, TGF-beta-rel
IPR017948, TGFb_CS

The PANTHER Classification System

More...PANTHERi		PTHR11848, PTHR11848, 1 hit
PTHR11848:SF19, PTHR11848:SF19, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00019, TGF_beta, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00204, TGFB, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57501, SSF57501, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00250, TGF_BETA_1, 1 hit
PS51362, TGF_BETA_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O60383-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARPNKFLLW FCCFAWLCFP ISLGSQASGG EAQIAASAEL ESGAMPWSLL 
        60         70         80         90        100
QHIDERDRAG LLPALFKVLS VGRGGSPRLQ PDSRALHYMK KLYKTYATKE 
       110        120        130        140        150
GIPKSNRSHL YNTVRLFTPC TRHKQAPGDQ VTGILPSVEL LFNLDRITTV 
       160        170        180        190        200
EHLLKSVLLY NINNSVSFSS AVKCVCNLMI KEPKSSSRTL GRAPYSFTFN 
       210        220        230        240        250
SQFEFGKKHK WIQIDVTSLL QPLVASNKRS IHMSINFTCM KDQLEHPSAQ 
       260        270        280        290        300
NGLFNMTLVS PSLILYLNDT SAQAYHSWYS LHYKRRPSQG PDQERSLSAY 
       310        320        330        340        350
PVGEEAAEDG RSSHHRHRRG QETVSSELKK PLGPASFNLS EYFRQFLLPQ 
       360        370        380        390        400
NECELHDFRL SFSQLKWDNW IVAPHRYNPR YCKGDCPRAV GHRYGSPVHT 
       410        420        430        440        450
MVQNIIYEKL DSSVPRPSCV PAKYSPLSVL TIEPDGSIAY KEYEDMIATK 

CTCR
Length:454
Mass (Da):51,444
Last modified:August 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i94EA366E90CDBC27
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DXG3B4DXG3_HUMAN
Growth/differentiation factor 9
GDF9
366Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06693457D → Y in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138136756Ensembl.1
Natural variantiVAR_05894567K → E in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_066935103P → S in POF14; unknown pathological significance; also found at higher frequency in mothers of dizygotic twins than in controls. 2 PublicationsCorresponds to variant dbSNP:rs61754583Ensembl.1
Natural variantiVAR_066936121T → I Rare polymorphism; found at higher frequency in mothers of dizygotic twins than in controls. 1 PublicationCorresponds to variant dbSNP:rs149821575Ensembl.1
Natural variantiVAR_066937146R → C in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs76349024Ensembl.1
Natural variantiVAR_058946186S → Y in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_058947216V → M in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1205723048Ensembl.1
Natural variantiVAR_066938238T → A in POF14; unknown pathological significance. 1 Publication1
Natural variantiVAR_066939374P → L Rare polymorphism; found at higher frequency in mothers of dizygotic twins than in controls. 1 PublicationCorresponds to variant dbSNP:rs373477788Ensembl.1
Natural variantiVAR_066940428S → T in POF14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs118080183Ensembl.1
Natural variantiVAR_066941454R → C Rare polymorphism; found at higher frequency in mothers of dizygotic twins than in controls. 1 PublicationCorresponds to variant dbSNP:rs61754582Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AC004500 Genomic DNA Translation: AAC08450.1
BC096228 mRNA Translation: AAH96228.1
BC096229 mRNA Translation: AAH96229.1
BC096230 mRNA Translation: AAH96230.1
BC096231 mRNA Translation: AAH96231.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4162.1

NCBI Reference Sequences

More...RefSeqi		NP_001275753.1, NM_001288824.2
NP_005251.1, NM_005260.5
XP_011541610.1, XM_011543308.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000378673; ENSP00000367942; ENSG00000164404

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2661

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2661

UCSC genome browser

More...UCSCi		uc003kxz.3, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004500 Genomic DNA Translation: AAC08450.1
BC096228 mRNA Translation: AAH96228.1
BC096229 mRNA Translation: AAH96229.1
BC096230 mRNA Translation: AAH96230.1
BC096231 mRNA Translation: AAH96231.1
CCDSiCCDS4162.1
RefSeqiNP_001275753.1, NM_001288824.2
NP_005251.1, NM_005260.5
XP_011541610.1, XM_011543308.2

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi108930, 51 interactors
IntActiO60383, 50 interactors
MINTiO60383
STRINGi9606.ENSP00000367942

PTM databases

GlyGeniO60383, 6 sites
iPTMnetiO60383
PhosphoSitePlusiO60383

Polymorphism and mutation databases

BioMutaiGDF9

Proteomic databases

PaxDbiO60383
PeptideAtlasiO60383
PRIDEiO60383
ProteomicsDBi49386

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26178, 546 antibodies

Genome annotation databases

EnsembliENST00000378673; ENSP00000367942; ENSG00000164404
GeneIDi2661
KEGGihsa:2661
UCSCiuc003kxz.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2661
DisGeNETi2661
EuPathDBiHostDB:ENSG00000164404.8

GeneCards: human genes, protein and diseases

More...GeneCardsi		GDF9
HGNCiHGNC:4224, GDF9
HPAiENSG00000164404, Group enriched (epididymis, testis)
MalaCardsiGDF9
MIMi601918, gene
618014, phenotype
neXtProtiNX_O60383
OpenTargetsiENSG00000164404
Orphaneti619, NON RARE IN EUROPE: Primary ovarian failure
PharmGKBiPA28639

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3900, Eukaryota
GeneTreeiENSGT00940000159784
InParanoidiO60383
KOiK22673
OMAiLKLDHWI
OrthoDBi724783at2759
PhylomeDBiO60383
TreeFamiTF351788

Enzyme and pathway databases

PathwayCommonsiO60383

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2661, 2 hits in 871 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GDF9, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Growth_differentiation_factor-9

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2661
PharosiO60383, Tbio

Protein Ontology

More...PROi		PR:O60383
RNActiO60383, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000164404, Expressed in oocyte and 117 other tissues
ExpressionAtlasiO60383, baseline and differential
GenevisibleiO60383, HS

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034, Cystine-knot_cytokine
IPR015617, Growth_differentiation_fac-9
IPR001839, TGF-b_C
IPR015615, TGF-beta-rel
IPR017948, TGFb_CS
PANTHERiPTHR11848, PTHR11848, 1 hit
PTHR11848:SF19, PTHR11848:SF19, 1 hit
PfamiView protein in Pfam
PF00019, TGF_beta, 1 hit
SMARTiView protein in SMART
SM00204, TGFB, 1 hit
SUPFAMiSSF57501, SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS00250, TGF_BETA_1, 1 hit
PS51362, TGF_BETA_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGDF9_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60383
Secondary accession number(s): Q4VAW5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: August 1, 1998
Last modified: October 7, 2020
This is version 160 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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