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CLRN2 clarin 2 [ Homo sapiens (human) ]

Gene ID: 645104, updated on 22-Sep-2022

Summary

Official Symbol
CLRN2provided by HGNC
Official Full Name
clarin 2provided by HGNC
Primary source
HGNC:HGNC:33939
See related
Ensembl:ENSG00000249581 MIM:618988; AllianceGenome:HGNC:33939
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
DFNB117
Summary
This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See CLRN2 in Genome Data Viewer
Location:
4p15.32
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (17515165..17527104)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (17496915..17508853)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (17516788..17528727)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900676 Neighboring gene Sharpr-MPRA regulatory region 11631 Neighboring gene quinoid dihydropteridine reductase Neighboring gene small nucleolar RNA U13 Neighboring gene NACA pseudogene 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in auditory receptor cell stereocilium organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in stereocilium maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in stereocilium bundle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in stereocilium membrane IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001079827.2NP_001073296.1  clarin-2

    See identical proteins and their annotated locations for NP_001073296.1

    Status: REVIEWED

    Source sequence(s)
    AC093600, BC127863
    Consensus CDS
    CCDS47032.1
    UniProtKB/Swiss-Prot
    A0PK11
    Related
    ENSP00000424711.2, ENST00000511148.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    17515165..17527104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    17496915..17508853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)