SCX

scleraxis bHLH transcription factor, the group of Basic helix-loop-helix proteins

Basic information

Region (hg38): 8:144266453-144268481

Previous symbols: [ "SCXA", "SCXB" ]

Links

ENSG00000260428

∙ NCBI:642658 ∙ OMIM:609067 ∙ HGNC:32322 ∙ Uniprot:Q7RTU7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SCX gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SCX gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in SCX

This is a list of pathogenic ClinVar variants found in the SCX region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-144267025-G-A		not specified	Uncertain significance (Apr 25, 2022)	2285773

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays an early essential role in mesoderm formation, as well as a later role in formation of somite-derived chondrogenic lineages. {ECO:0000250}.;

Mouse Genome Informatics

Gene name: Scx
Phenotype: homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; embryo phenotype; skeleton phenotype; limbs/digits/tail phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process: mesoderm formation;tissue homeostasis;endochondral ossification;chondrocyte differentiation;heart valve morphogenesis;heart valve formation;transcription, DNA-templated;positive regulation of cell population proliferation;positive regulation of gene expression;cell differentiation;collagen fibril organization;BMP signaling pathway;positive regulation of collagen biosynthetic process;skeletal muscle cell differentiation;tendon development;tendon cell differentiation;tendon formation;deltoid tuberosity development;negative regulation of apoptotic process;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;embryonic skeletal system development;Sertoli cell differentiation;face morphogenesis;regulation of cartilage development;positive regulation of cartilage development;sclerotome development;cellular response to mechanical stimulus;cellular response to transforming growth factor beta stimulus;positive regulation of gastrulation
Cellular component: nucleus;transcription factor complex
Molecular function: RNA polymerase II distal enhancer sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;bHLH transcription factor binding;sequence-specific DNA binding;protein heterodimerization activity;E-box binding