SCX scleraxis bHLH transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCXprovided by HGNC
Official Full Name: scleraxis bHLH transcription factorprovided by HGNC
Primary source: HGNC:HGNC:32322
See related: Ensembl:ENSG00000260428 MIM:609067; AllianceGenome:HGNC:32322
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCXA; SCXB; bHLHa48
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and bHLH transcription factor binding activity. Contributes to E-box binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Nov 2024]
Annotation information: Note: In the NCBI Build GRCh37 reference assembly SCXA and SCXB are duplicate genes in close proximity to each other on chromosome 8. In August, 2010 the Genome Reference Consortium determined that the region contains a duplication error. The clone on which SCXA was based (AC110280.8) was be removed from the GRCh38 reference assembly and SCXB was retained and renamed to SCX. [27 Sep 2015]
Expression: Ubiquitous expression in appendix (RPKM 1.6), prostate (RPKM 1.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (144266453..144268481)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (145433863..145437284)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (145321356..145323384)

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 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?

Regulation of Cardiac Fibroblast GLS1 Expression by Scleraxis.
Title: Regulation of Cardiac Fibroblast GLS1 Expression by Scleraxis.
The transcription factor scleraxis differentially regulates gene expression in tenocytes isolated at different developmental stages.
Title: The transcription factor scleraxis differentially regulates gene expression in tenocytes isolated at different developmental stages.
The Transcription Factor SCX is a Potential Serum Biomarker of Fibrotic Diseases.
Title: The Transcription Factor SCX is a Potential Serum Biomarker of Fibrotic Diseases.
Scleraxis as a prognostic marker of myocardial fibrosis in hypertrophic cardiomyopathy (SPARC) study.
Title: Scleraxis as a prognostic marker of myocardial fibrosis in hypertrophic cardiomyopathy (SPARC) study.
Tenogenic Contribution to Skeletal Muscle Regeneration: The Secretome of Scleraxis Overexpressing Mesenchymal Stem Cells Enhances Myogenic Differentiation In Vitro.
Title: Tenogenic Contribution to Skeletal Muscle Regeneration: The Secretome of Scleraxis Overexpressing Mesenchymal Stem Cells Enhances Myogenic Differentiation In Vitro.
Scleraxis regulates epithelial-mesenchymal transition via direct transactivation of the Twist1 and Snai1 genes.
Title: Scleraxis regulates Twist1 and Snai1 expression in the epithelial-to-mesenchymal transition.
The transcription factor scleraxis is an important inducer of extracellular matrix gene expression in the heart that also control MMP2 expression. The scleraxis can exert control over both extracellular matrix synthesis and breakdown, and thus may contribute to matrix remodeling in wound healing and disease.
Title: Regulation of cardiac fibroblast MMP2 gene expression by scleraxis.
Abnormal upregulation of HIF-2alpha served as a key switch to direct TSPCs differentiation into osteochondral-lineage rather than teno-lineage. Notably, Scleraxis (Scx), an essential tendon specific transcription factor, was suppressed on constitutive activation of HIF-2alpha and mediated the effect of HIF-2alpha on TSPCs fate decision.
Title: Pharmacological Regulation of In Situ Tissue Stem Cells Differentiation for Soft Tissue Calcification Treatment.
These studies identify an important role for Scx in regulating proteoglycans in embryonic and mature valve cells.
Title: Tgfβ-Smad and MAPK signaling mediate scleraxis and proteoglycan expression in heart valves.
Scleraxis thus appears to play a key role in the transcriptional regulation of type I collagen synthesis.
Title: Synergistic roles of scleraxis and Smads in the regulation of collagen 1α2 gene expression.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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 DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
contributes_to E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in Sertoli cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
involved_in chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in collagen fibril organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in deltoid tuberosity development	ISS Inferred from Sequence or Structural Similarity more info
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in endochondral ossification	ISS Inferred from Sequence or Structural Similarity more info
involved_in face morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in heart valve formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart valve morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesoderm formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cartilage development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of collagen biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gastrulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cartilage development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sclerotome development	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in tendon cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in tendon development	ISS Inferred from Sequence or Structural Similarity more info
involved_in tendon formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in tissue homeostasis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: basic helix-loop-helix transcription factor scleraxis

Names: class A basic helix-loop-helix protein 41; class A basic helix-loop-helix protein 48; class II bHLH protein scleraxis; scleraxis basic helix-loop-helix transcription factor; scleraxis homolog A; scleraxis homolog B

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.

mRNA and Protein(s)

NM_001080514.3 → NP_001073983.1 basic helix-loop-helix transcription factor scleraxis

See identical proteins and their annotated locations for NP_001073983.1

Status: VALIDATED

Source sequence(s)

AC145291, BG230566, CB048390, CD672767

Consensus CDS

CCDS43779.1

UniProtKB/Swiss-Prot

Q7RTU7

Related

ENSP00000476384.1, ENST00000567180.3

Conserved Domains (1) summary

cd18951
Location:73 → 140

bHLH_TS_scleraxis; basic helix-loop-helix (bHLH) domain found in scleraxis and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

144266453..144268481

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

145433863..145437284

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054361007.1 → XP_054216982.1 basic helix-loop-helix transcription factor scleraxis isoform X1

UniProtKB/Swiss-Prot

Q7RTU7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001008271.1: Suppressed sequence

Description

NM_001008271.1: This RefSeq was permanently suppressed because it was found to be redundant for this gene family.