GDF6 growth differentiation factor 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GDF6provided by HGNC
Official Full Name: growth differentiation factor 6provided by HGNC
Primary source: HGNC:HGNC:4221
See related: Ensembl:ENSG00000156466 MIM:601147; AllianceGenome:HGNC:4221
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: KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; SYNS4; BMP-13
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 is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]
Expression: Biased expression in placenta (RPKM 7.2), gall bladder (RPKM 1.8) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (96142333..96160806, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (97267652..97286137, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (97154561..97173034, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A novel DNA methylation signature revealed GDF6 and RCC1 as potential prognostic biomarkers correlated with cell proliferation in clear cell renal cell carcinoma.
Title: A novel DNA methylation signature revealed GDF6 and RCC1 as potential prognostic biomarkers correlated with cell proliferation in clear cell renal cell carcinoma.
Bone morphogenetic protein 13 in hepatic stellate cells and hepatic fibrosis.
Title: Bone morphogenetic protein 13 in hepatic stellate cells and hepatic fibrosis.
GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment.
Title: GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment.
A Novel Human Long Noncoding RNA SCDAL Promotes Angiogenesis through SNF5-Mediated GDF6 Expression.
Title: A Novel Human Long Noncoding RNA SCDAL Promotes Angiogenesis through SNF5-Mediated GDF6 Expression.
siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference.
Title: siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference.
Rare heterozygous GDF6 variants in patients with renal anomalies.
Title: Rare heterozygous GDF6 variants in patients with renal anomalies.
miR-98 is involved in missed abortion by targeting GDF6 and FAPP2.
Title: miR-98 is involved in missed abortion by targeting GDF6 and FAPP2.
GDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth.
Title: GDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth.
Regenerative Response of Degenerate Human Nucleus Pulposus Cells to GDF6 Stimulation.
Title: Regenerative Response of Degenerate Human Nucleus Pulposus Cells to GDF6 Stimulation.
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
Title: Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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 4 MedGen: C2751307 OMIM: 613094 GeneReviews: Not available	Compare labs
Klippel-Feil syndrome 1, autosomal dominant MedGen: C1861689 OMIM: 118100 GeneReviews: Not available	Compare labs
Leber congenital amaurosis 17 MedGen: C3715164 OMIM: 615360 GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	Compare labs
Microphthalmia, isolated, with coloboma 6 MedGen: C3150968 OMIM: 613703 GeneReviews: Not available	Compare labs
Multiple synostoses syndrome 4 MedGen: C4693531 OMIM: 617898 GeneReviews: Not available	Compare labs

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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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 identical protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in SMAD protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell migration involved in metanephros development	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within_positive_effect metanephros development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of p38MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinal cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
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 6

Names: bone morphogenetic protein 13; growth/differentiation factor 16

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_008981.1 RefSeqGene

Range

4987..23460

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001001557.4 → NP_001001557.1 growth/differentiation factor 6 preproprotein

See identical proteins and their annotated locations for NP_001001557.1

Status: REVIEWED

Source sequence(s)

AJ537424, AP003465, CA423567

Consensus CDS

CCDS34926.1

UniProtKB/Swiss-Prot

Q6KF10, Q6PI58

UniProtKB/TrEMBL

A0A0S2A5D6

Related

ENSP00000287020.4, ENST00000287020.7

Conserved Domains (2) summary

cd13766
Location:354 → 455

TGF_beta_GDF5_6_7; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 5 (GDF5), factor 6 (GDF6), factor 7 (GDF7) and similar proteins

pfam00688
Location:79 → 281

TGFb_propeptide; TGF-beta propeptide