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DFNB59 deafness, autosomal recessive 59 [ Homo sapiens (human) ]

Gene ID: 494513, updated on 7-Aug-2014
Official Symbol
DFNB59provided by HGNC
Official Full Name
deafness, autosomal recessive 59provided by HGNC
Primary source
HGNC:29502
See related
Ensembl:ENSG00000204311; MIM:610219; Vega:OTTHUMG00000154425
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PJVK
Summary
The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
See DFNB59 in Epigenomics, MapViewer
Location:
2q31.2
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (178451436..178461422)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179316163..179326149)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein-like 6 Neighboring gene uncharacterized LOC101927027 Neighboring gene protein kinase, interferon-inducible double stranded RNA dependent activator Neighboring gene nuclear distribution gene C homolog (A. nidulans) pseudogene 2 Neighboring gene FK506 binding protein 7 Neighboring gene pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
pejvakin
Names
pejvakin
autosomal recessive deafness type 59 protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012186.1 

    Range
    5001..14951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042702.3NP_001036167.1  pejvakin

    See proteins identical to NP_001036167.1

    Status: REVIEWED

    Source sequence(s)
    AW006294, BC127902, DQ365827
    Consensus CDS
    CCDS42787.1
    UniProtKB/Swiss-Prot
    Q0ZLH3
    Related
    ENSP00000386647, OTTHUMP00000205645, ENST00000409117, OTTHUMT00000335160
    Conserved Domains (1) summary
    pfam04598
    Location:1236
    Blast Score: 354
    Gasdermin; Gasdermin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    178451436..178461422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246627.1XP_005246684.1  

    Conserved Domains (1) summary
    pfam04598
    Location:11239
    Blast Score: 324
    Gasdermin; Gasdermin family
  2. XM_005246629.1XP_005246686.1  

    Conserved Domains (1) summary
    pfam04598
    Location:5233
    Blast Score: 324
    Gasdermin; Gasdermin family
  3. XM_005246628.1XP_005246685.1  

    Conserved Domains (1) summary
    pfam04598
    Location:41258
    Blast Score: 316
    Gasdermin; Gasdermin family
  4. XM_005246626.1XP_005246683.1  

    Conserved Domains (1) summary
    pfam04598
    Location:41271
    Blast Score: 331
    Gasdermin; Gasdermin family
  5. XM_006712554.1XP_006712617.1  

    See proteins identical to XP_006712617.1

    UniProtKB/Swiss-Prot
    Q0ZLH3
    Conserved Domains (1) summary
    pfam04598
    Location:1236
    Blast Score: 354
    Gasdermin; Gasdermin family

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    171186847..171196797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

    Range
    179322170..179332144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)