Gene

sh3tc2

ID
ZDB-GENE-081104-347
Name
SH3 domain and tetratricopeptide repeats 2
Symbol
sh3tc2 Nomenclature History
Previous Names
  • si:dkey-192o1.5
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4C. Orthologous to human SH3TC2 (SH3 domain and tetratricopeptide repeats 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With sh3tc2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease type 4C Alliance Charcot-Marie-Tooth disease, type 4C 601596
Mononeuropathy of the median nerve, mild 613353
Associated With sh3tc2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001452 SH3 domain
Family IPR042772 SH3 domain and tetratricopeptide repeat-containing protein SH3TC1/SH3TC2
Homologous_superfamily IPR011990 Tetratricopeptide-like helical domain superfamily
Homologous_superfamily IPR036028 SH3-like domain superfamily
Repeat IPR019734 Tetratricopeptide repeat
Domain Details Per Protein
Protein Length SH3 domain SH3 domain and tetratricopeptide repeat-containing protein SH3TC1/SH3TC2 SH3-like domain superfamily Tetratricopeptide-like helical domain superfamily Tetratricopeptide repeat
UniProtKB:A0A8M9Q9J4 1242
UniProtKB:A0A8M9PZV3 1415
UniProtKB:A0A0R4IDG8 1407
UniProtKB:A0A8M9PND9 1237
UniProtKB:A0A8M2BKM4 1448
UniProtKB:E9QI21 1435
UniProtKB:A0A8M2BKL5 1440
UniProtKB:A0A8M9PYM6 1209
UniProtKB:A0A8M9PSJ6 1217
UniProtKB:A0A8M9PYM1 1250
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations