GDF3 growth differentiation factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GDF3provided by HGNC
Official Full Name: growth differentiation factor 3provided by HGNC
Primary source: HGNC:HGNC:4218
See related: Ensembl:ENSG00000184344 MIM:606522; AllianceGenome:HGNC:4218
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KFS3; MCOP7; MCOPCB6
Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role ocular and skeletal development. Mutations in this gene are associated with microphthalmia, coloboma, and skeletal abnormalities in human patients. [provided by RefSeq, Aug 2016]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (7689784..7695775, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (7704552..7710540, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (7842380..7848371, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel Cardiokine GDF3 Predicts Adverse Fibrotic Remodeling After Myocardial Infarction.
Title: Novel Cardiokine GDF3 Predicts Adverse Fibrotic Remodeling After Myocardial Infarction.
Increased Serum Levels of Growth-Differentiation Factor 3 (GDF3) and Inflammasome-Related Markers in Pregnant Women during Acute Zika Virus Infection.
Title: Increased Serum Levels of Growth-Differentiation Factor 3 (GDF3) and Inflammasome-Related Markers in Pregnant Women during Acute Zika Virus Infection.
the 4 of the 5 variants in [i]GDF3[/i] gene contribute different pathogenicity in congenital scoliosis, which may provide molecular evidence for clinical genetic testing.
Title: Functional and In Silico Assessment of GDF3 Gene Variants in a Chinese Congenital Scoliosis Population.
OCT4 plays a role as a transcriptional activator for GDF3 transcription in pluripotent human embryonic carcinoma NCCIT cells and contributes to the understanding of the molecular networks of stem cell regulators in germ cell-derived pluripotency and tumorigenesis.
Title: Growth and Differentiation Factor 3 Is Transcriptionally Regulated by OCT4 in Human Embryonic Carcinoma Cells.
The results expand the spectrum of mutations associated with CHDs and first suggest the potentially disease-related GDF3 gene variant in the pathogenesis of CHDs.
Title: A novel variation of GDF3 in Chinese Han children with a broad phenotypic spectrum of non-syndromic CHDs.
first evidence that NANOG is a transcriptional activator of the expression of the oncogenic growth factor GDF3 in embryonic carcinoma cells
Title: Regulation of human growth and differentiation factor 3 gene expression by NANOG in human embryonic carcinoma NCCIT cells.
GDF3 expression level was significantly down-regulated in breast cancer tissues compared to the surrounding nontumorous tissues.
Title: GDF3 inhibits the growth of breast cancer cells and promotes the apoptosis induced by Taxol.
the conditioned medium from CHO-GDF3 could reduce PC12 cell growth and induce cell differentiation
Title: The conditioned medium from a stable human GDF3-expressing CHO cell line, induces the differentiation of PC12 cells.
Growth differentiation factor 3 is induced by bone morphogenetic protein 6 (BMP-6) and BMP-7 and increases luteinizing hormone receptor messenger RNA expression in human granulosa cells.
Title: Growth differentiation factor 3 is induced by bone morphogenetic protein 6 (BMP-6) and BMP-7 and increases luteinizing hormone receptor messenger RNA expression in human granulosa cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Isolated microphthalmia 7 MedGen: C3150969 OMIM: 613704 GeneReviews: Not available	Compare labs
Klippel-Feil syndrome 3, autosomal dominant MedGen: C3150967 OMIM: 613702 GeneReviews: Not available	Compare labs
Microphthalmia, isolated, with coloboma 6 MedGen: C3150968 OMIM: 613703 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDF3_670 (e-PCR)
- UniSTS:277275

RH91884 (e-PCR)
- UniSTS:87290

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endoderm development	IEA Inferred from Electronic Annotation more info
involved_in eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in formation of anatomical boundary	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of epidermal cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of myoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in notochord development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in primitive streak formation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell fate commitment	IDA Inferred from Direct Assay more info	PubMed
involved_in response to dietary excess	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somite rostral/caudal axis specification	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: growth/differentiation factor 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028167.1 RefSeqGene

Range

4990..10981

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020634.3 → NP_065685.1 growth/differentiation factor 3 preproprotein

See identical proteins and their annotated locations for NP_065685.1

Status: REVIEWED

Source sequence(s)

AA926805, AF263538, AY358875

Consensus CDS

CCDS8581.1

UniProtKB/Swiss-Prot

Q8NEJ4, Q9NR23

UniProtKB/TrEMBL

Q8NI58

Related

ENSP00000331745.3, ENST00000329913.4

Conserved Domains (2) summary

smart00204
Location:264 → 364

TGFB; Transforming growth factor-beta (TGF-beta) family

pfam00688
Location:109 → 220

TGFb_propeptide; TGF-beta propeptide