Human (GRCh38.p14)
Description

espin [Source:HGNC Symbol;Acc:HGNC:13281]

Gene Synonyms

DFNB36

Location

Chromosome 1: 6,424,776-6,461,367 forward strand.

GRCh38:CM000663.2

About this gene

This gene has 16 transcripts (splice variants), 199 orthologues, 1 paralogue and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000645284.1ESPN-2163543854aaENSP00000496593.1
 
Protein coding
CCDS70B1AK53-1 NM_031475.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1
ENST00000636330.1ESPN-21447311362aaENSP00000490186.1
 
Protein coding
A0A1B0GUN9 -GENCODE basicTSL:5
ENST00000633239.1ESPN-2121494237aaENSP00000488071.1
 
Protein coding
A0A0J9YWQ8 -TSL:5CDS 5' incomplete
ENST00000461727.6ESPN-2031339288aaENSP00000465308.1
 
Protein coding
B1AK53-2 -GENCODE basicTSL:1
ENST00000477679.2ESPN-207879206aaENSP00000495669.1
 
Protein coding
A0A2R8YG57 -TSL:2CDS 5' incomplete
ENST00000475228.6ESPN-205813179aaENSP00000488721.2
 
Protein coding
A0A0J9YY76 -TSL:5CDS 3' incomplete
ENST00000434576.2ESPN-202747188aaENSP00000413621.1
 
Protein coding
H0Y7L4 -TSL:3CDS 5' incomplete
ENST00000418286.1ESPN-201641213aaENSP00000401793.1
 
Protein coding
Q5JYL1 -TSL:3CDS 5' and 3' incomplete
ENST00000636644.1ESPN-215544176aaENSP00000490230.1
 
Protein coding
A0A1B0GUS9 -TSL:5CDS 3' incomplete
ENST00000632593.1ESPN-21050684aaENSP00000495145.1
 
Protein coding
A0A2R8Y6D3 -TSL:2CDS 3' incomplete
ENST00000632803.1ESPN-21145560aaENSP00000487748.1
 
Protein coding
A0A0J9YW00 -TSL:3CDS 3' incomplete
ENST00000475479.2ESPN-20636082aaENSP00000496370.1
 
Protein coding
A0A2R8Y7L7 -TSL:3CDS 3' incomplete
ENST00000478323.1ESPN-20827028aaENSP00000466437.1
 
Protein coding
K7EMB7 -TSL:5CDS 3' incomplete
ENST00000468561.2ESPN-204661No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000633651.1ESPN-213566No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000632142.1ESPN-209564No protein-
 
Retained intron
--TSL:2