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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 InterPro	1242
UniProtKB:A0A8M9PZV3 InterPro	1415
UniProtKB:A0A0R4IDG8 InterPro	1407
UniProtKB:A0A8M9PND9 InterPro	1237
UniProtKB:A0A8M2BKM4 InterPro	1448
UniProtKB:E9QI21 InterPro	1435
UniProtKB:A0A8M2BKL5 InterPro	1440
UniProtKB:A0A8M9PYM6 InterPro	1209
UniProtKB:A0A8M9PSJ6 InterPro	1217
UniProtKB:A0A8M9PYM1 InterPro	1250

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	sh3tc2-201 (1) Ensembl	Ensembl	5,418 nt	Select Tool ZFIN BLAST
mRNA	sh3tc2-202 (1) Ensembl	Ensembl	4,511 nt	Select Tool ZFIN BLAST
mRNA	sh3tc2-203 (1) Ensembl	Ensembl	581 nt	Select Tool ZFIN BLAST
mRNA	sh3tc2-204 (1) Ensembl	Ensembl	452 nt	Select Tool ZFIN BLAST
mRNA	sh3tc2-205 (1) Ensembl	Ensembl	400 nt	Select Tool ZFIN BLAST
mRNA	sh3tc2-206 (1) Ensembl	Ensembl	5,856 nt	Select Tool ZFIN BLAST

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