GJB2 &#160; ingelesa (Q18025996)

ensembl Release 106 ^ingelesa

proteinak kodetzen dituen genea

honen azpiklasea

Erreferentzia bat

Ensembl Release 87 ^ingelesa

irudia

Protein GJB2 PDB 1XIR.png
1.200 × 1.000; 67 KB

0 erreferentzia

taxon honetan dago

Homo sapiens

Erreferentzia bat

ensembl Release 106 ^ingelesa

kodetzen du

Gap junction protein beta 2 ^ingelesa

Erreferentzia bat

UniProt ^ingelesa

6 uztaila 2017

UniProt protein ID ^ingelesa

genetic association ^ingelesa

autosomal dominant nonsyndromic deafness 3A ^ingelesa

Erreferentzia bat

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Vohwinkel syndrome ^ingelesa

2 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000165474/MONDO_0007422

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

palmoplantar keratoderma-deafness syndrome ^ingelesa

2 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000165474/MONDO_0007852

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Bart-Pumphrey syndrome ^ingelesa

3 erreferentzia

UniProt ^ingelesa

UniProt protein ID ^ingelesa

13 abuztua 2019

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000165474/MONDO_0007866

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000165474/Orphanet_2698

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

syndromic genetic deafness ^ingelesa

2 erreferentzia

ClinGen ^ingelesa

8 abendua 2020

https://search.clinicalgenome.org/kb/gene-validity/9d7b8505-4def-4b99-a8a2-853c07e9969e--2018-06-26T16:00:00

ClinGen ^ingelesa

25 urtarrila 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9d7b8505-4def-4b99-a8a2-853c07e9969e-2018-06-26T160000.000Z

gortasun

Erreferentzia bat

Open Targets Platform ^ingelesa

24 abuztua 2023

https://platform.opentargets.org/evidence/ENSG00000165474/EFO_0004238

based on heuristic ^ingelesa

inferred from an Open Targets association score over 0.7 ^ingelesa

human chromosome 13 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

strand orientation ^ingelesa

reverse strand ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic start ^ingelesa

20761609

human chromosome 13 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

20187463

human chromosome 13 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

genomic end ^ingelesa

20767037

human chromosome 13 ^ingelesa

genomic assembly ^ingelesa

Genome assembly GRCh37 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

20192938

human chromosome 13 ^ingelesa

genomic assembly ^ingelesa

genome assembly GRCh38 ^ingelesa

Erreferentzia bat

ensembl Release 106 ^ingelesa

cytogenetic location ^ingelesa

13q12.11

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HomoloGene ID ^ingelesa

2975

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Gjb2 ^ingelesa

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

2975

Gjb2 ^ingelesa

taxon honetan dago

Arratoi arrunt

Erreferentzia bat

HomoloGene build68 ^ingelesa

HomoloGene ID ^ingelesa

2975

expressed in ^ingelesa

giza zakil

1

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

body of tongue ^ingelesa

2

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

oral cavity ^ingelesa

3

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

Alu

4

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

pancreatic ductal cell ^ingelesa

5

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

skin of abdomen ^ingelesa

6

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

trigeminal ganglion ^ingelesa

7

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

Parotida guruin

8

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

Timo

9

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

superior surface of tongue ^ingelesa

10

Erreferentzia bat

Bgee ^ingelesa

20 apirila 2022

http://identifiers.org/ncbigene/2706

baliokidetasun zehatza

Erreferentzia bat

Identifiers.org ^ingelesa

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

Identifikatzaileak

RNAren identifikatzailea

XM_011535049

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

Erreferentzia bat

ensembl Release 106 ^ingelesa

Ensembl-ren transkripzio-identifikatzailea

ENST00000382848

Erreferentzia bat

ensembl Release 106 ^ingelesa

ENST00000382844

Erreferentzia bat

ensembl Release 106 ^ingelesa

Freebase-ren identifikatzailea

0 erreferentzia

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

HGNC ID ^ingelesa

Erreferentzia bat

NCBI Gene ^ingelesa

15 maiatza 2022

OMIM ID ^ingelesa

121011

Erreferentzia bat

Online Mendelian Inheritance in Man

19 abuztua 2019

UMLS CUI ^ingelesa

C1415077

Erreferentzia bat

based on heuristic ^ingelesa

inferred by common HGNC mappings on source and on Wikidata ^ingelesa

UMLS 2023 ^ingelesa