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TMEM231 transmembrane protein 231 [ Homo sapiens (human) ]

Gene ID: 79583, updated on 23-Nov-2021

Summary

Official Symbol
TMEM231provided by HGNC
Official Full Name
transmembrane protein 231provided by HGNC
Primary source
HGNC:HGNC:37234
See related
Ensembl:ENSG00000205084 MIM:614949
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
MKS11; JBTS20; ALYE870; PRO1886
Summary
This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Expression
Broad expression in testis (RPKM 8.7), thyroid (RPKM 6.9) and 24 other tissues See more
Orthologs
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Genomic context

See TMEM231 in Genome Data Viewer
Location:
16q23.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (75536741..75556286, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75570639..75590184, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene TMEM231 pseudogene 1 Neighboring gene carbohydrate sulfotransferase 5 Neighboring gene GABA type A receptor associated protein like 2 Neighboring gene adenosine deaminase tRNA specific 1

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

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available
Joubert syndrome
MedGen: C0431399 GeneReviews: Joubert Syndrome
Compare labs
Joubert syndrome 20
MedGen: C3554235 OMIM: 614970 GeneReviews: Joubert Syndrome
Compare labs
Meckel syndrome, type 11
MedGen: C3809352 OMIM: 615397 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22167

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 camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuroepithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in vasculature development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of MKS complex ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in ciliary membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in ciliary transition zone ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of 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.

Genomic

  1. NG_033109.1 RefSeqGene

    Range
    5001..23170
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001077416.2NP_001070884.2  transmembrane protein 231 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK096650, BC010609, BC063677, BM973146, DC330418
    UniProtKB/Swiss-Prot
    Q9H6L2
    Related
    ENSP00000476267.1, ENST00000568377.5
    Conserved Domains (1) summary
    pfam10149
    Location:95348
    TM231; Transmembrane protein 231
  2. NM_001077418.3NP_001070886.1  transmembrane protein 231 isoform 2

    See identical proteins and their annotated locations for NP_001070886.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction in the 5' coding region which causes translation initiation at an alternate start codon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC009163, AK025820, BC016401
    Consensus CDS
    CCDS45530.1
    UniProtKB/Swiss-Prot
    Q9H6L2
    Related
    ENSP00000258173.5, ENST00000258173.11
    Conserved Domains (1) summary
    pfam10149
    Location:1295
    TM231; Transmembrane protein 231

RNA

  1. NR_074083.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal segment in the 5' region and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC009163, AK096650, BC010609, BC016401, BC063677, BU173659, DC330418

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    75536741..75556286 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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