Human (GRCh37.p13)
Description

deafness, autosomal recessive 59 [Source:HGNC Symbol;Acc:29502]

Gene Synonyms

PJVK, pejvakin

Location

Chromosome 2: 179,316,163-179,326,117 forward strand.

GRCh37:CM000664.1

About this gene

This gene has 6 transcripts (splice variants), 1 paralogue and is associated with 2 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000409117.3DFNB59-0011531352aaENSP00000386647.3
 
Protein coding
CCDS42787A0PK15 Q0ZLH3 NM_001042702.3GENCODE basic
ENST00000375129.4DFNB59-0031202352aaENSP00000364271.4
 
Protein coding
CCDS42787A0PK15 Q0ZLH3 -GENCODE basic
ENST00000442710.1DFNB59-005713156aaENSP00000410776.1
 
Protein coding
--CDS 5' incomplete
ENST00000444615.1DFNB59-004471105aaENSP00000399579.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000605419.1DFNB59-006261No protein-
 
Processed transcript
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ENST00000437056.1DFNB59-0021942No protein-
 
Retained intron
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