TMEM231 transmembrane protein 231 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:37234
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: mouse all
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Genomic context

Location:: 16q23.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (75536741..75556286, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (81584994..81604533, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (75570639..75590184, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.
Title: Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.
Results identified a rare gene conversion event in TMEM231, leading to loss of exon 4, which in combination with c.712G>A missense mutation caused Joubert syndrome and in combination with c.334T>G missense mutation caused Meckel-Gruber syndrome.
Title: TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
Tmem231 is critical for organizing the Meckel syndrome complex and controlling ciliary composition, defects in which cause OFD3 and MKS.
Title: TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
TMEM231 represents a novel MKS locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies.
Title: Mutations in TMEM231 cause Meckel-Gruber syndrome.
mutations in TMEM231 cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone.
Title: Mutations in TMEM231 cause Joubert syndrome in French Canadians.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial aplasia of the vermis MedGen: C0431399 GeneReviews: Joubert Syndrome	not available
Joubert syndrome 20 MedGen: C3554235 OMIM: 614970 GeneReviews: Joubert Syndrome	not available
Meckel syndrome, type 11 MedGen: C3809352 OMIM: 615397 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-80010 (e-PCR)
- UniSTS:101632

G20564 (e-PCR)
- UniSTS:63793

A005X09 (e-PCR)
- UniSTS:63794

D16S3189 (e-PCR)
- UniSTS:59971

RH15634 (e-PCR)
- UniSTS:60739

RH68374 (e-PCR)
- UniSTS:80547

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
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
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
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
located_in ciliary transition zone	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transmembrane protein 231

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

NG_033109.1 RefSeqGene

Range

5035..24546

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001077416.2 → NP_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:95 → 348

TM231; Transmembrane protein 231
NM_001077418.3 → NP_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

A0JLU1, A6NDZ6, B3KU85, G5E9E3, Q6P450, Q6UWW5, Q9H6L2

UniProtKB/TrEMBL

H3BTN6

Related

ENSP00000258173.5, ENST00000258173.11

Conserved Domains (1) summary

pfam10149
Location:1 → 295

TM231; Transmembrane protein 231

RNA

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