Format

Send to:

Choose Destination

TMIE transmembrane inner ear [ Homo sapiens (human) ]

Gene ID: 259236, updated on 3-Mar-2019

Summary

Official Symbol
TMIEprovided by HGNC
Official Full Name
transmembrane inner earprovided by HGNC
Primary source
HGNC:HGNC:30800
See related
Ensembl:ENSG00000181585 MIM:607237
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
DFNB6
Summary
This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]
Expression
Broad expression in adrenal (RPKM 2.0), brain (RPKM 1.3) and 20 other tissues See more
Orthologs

Genomic context

See TMIE in Genome Data Viewer
Location:
3p21.31
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (46693778..46710923)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (46742823..46752413)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 240 member A Neighboring gene ALS2 C-terminal like Neighboring gene serine protease 50 Neighboring gene serine protease 46, pseudogene

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

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
inner ear morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane inner ear expressed protein
Names
transmembrane inner ear protein

NCBI Reference Sequences (RefSeq)

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_011628.1 RefSeqGene

    Range
    5001..14591
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_147196.2NP_671729.2  transmembrane inner ear expressed protein precursor

    See identical proteins and their annotated locations for NP_671729.2

    Status: REVIEWED

    Source sequence(s)
    AC134504, AY081842
    Consensus CDS
    CCDS43081.1
    UniProtKB/Swiss-Prot
    Q8NEW7
    Related
    ENSP00000324775.3, ENST00000326431.3
    Conserved Domains (1) summary
    pfam16038
    Location:46122
    TMIE; TMIE protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    46693778..46710923
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713097.4XP_006713160.1  transmembrane inner ear expressed protein isoform X1

    See identical proteins and their annotated locations for XP_006713160.1

    Related
    ENSP00000495111.1, ENST00000644830.1
    Conserved Domains (1) summary
    pfam16038
    Location:169
    TMIE; TMIE protein
  2. XM_024453446.1XP_024309214.1  transmembrane inner ear expressed protein isoform X1

    Conserved Domains (1) summary
    pfam16038
    Location:169
    TMIE; TMIE protein
Support Center