(Q18046214)

English

SH3TC2

protein-coding gene in the species Homo sapiens

CMT4C
MNMN
SH3 domain and tetratricopeptide repeats 2

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Statements

1 reference

1 reference

1 reference

SH3 domain and tetratricopeptide repeats 2

1 reference

6 July 2017

autosomal recessive hereditary demyelinating motor and sensory neuropathy

1 reference

14 February 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8d2b214f-3086-4012-bf4b-a6e651618f0b-2022-02-10T020711.223Z

carpal tunnel syndrome

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000169247/EFO_0004143

based on heuristic

inferred from an Open Targets association score over 0.7

chromosome

human chromosome 5

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

genome assembly GRCh38

Genome assembly GRCh37

1 reference

148923639

genome assembly GRCh38

1 reference

148303202

Genome assembly GRCh37

1 reference

149063163

genome assembly GRCh38

1 reference

148442726

Genome assembly GRCh37

1 reference

5q32

1 reference

15 May 2022

11596

1 reference

15 May 2022

PBB GE SH3TC2 219710 at fs.png
732 × 530; 11 KB

0 references

PBB GE SH3TC2 gnf1h08545 at fs.png
732 × 530; 12 KB

0 references

2 references

11596

https://omabrowser.org/oma/vps/Q8TF17/

2 references

11596

https://omabrowser.org/oma/vps/Q8TF17/

1 reference

11596

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169247

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169247

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169247

internal globus pallidus

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169247

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169247

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169247

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169247

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169247

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169247

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169247

exact match

http://identifiers.org/ncbigene/79628

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Ensembl transcript ID

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

0 references

1 reference

15 May 2022

1 reference

15 May 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

inferred by common HGNC mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

15 June 2023

Sitelinks

Wikipedia(6 entries)

arwiki SH3TC2
arzwiki SH3TC2
bswiki SH3TC2
enwiki SH3TC2
ttwiki SH3TC2
ukwiki SH3TC2

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

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Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q18046214&oldid=2173804239"