TMEM237 transmembrane protein 237 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMEM237provided by HGNC
Official Full Name: transmembrane protein 237provided by HGNC
Primary source: HGNC:HGNC:14432
See related: Ensembl:ENSG00000155755 MIM:614423; AllianceGenome:HGNC:14432
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: JBTS14; ALS2CR4
Summary: The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression: Ubiquitous expression in skin (RPKM 10.1), adrenal (RPKM 5.6) and 24 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 2q33.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (201620186..201643503, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (202100839..202124155, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (202484909..202508226, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMEM237 in HuTu-80 cells led to a significant induction in riboflavin uptake. Transfecting TMEM237 into HuTu-80 cells led to a marked enhancement in hRFVT-3 protein stability (reflected by an increase in protein half-life).
Title: Identification of transmembrane protein 237 as a novel interactor with the intestinal riboflavin transporter-3 (RFVT-3): role in functionality and cell biology.
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
Title: TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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	Compare labs
Joubert syndrome 14 MedGen: C3280766 OMIM: 614424 GeneReviews: Joubert Syndrome	Compare labs

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of TMEM237	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH15616 (e-PCR)
- UniSTS:26652

G54442 (e-PCR)
- UniSTS:140844

RH47568 (e-PCR)
- UniSTS:42321

RH79761 (e-PCR)
- UniSTS:90275

G65656 (e-PCR)
- UniSTS:225447

RH68361 (e-PCR)
- UniSTS:7613

STS-N48800 (e-PCR)
- UniSTS:39657

SHGC-81771 (e-PCR)
- UniSTS:103929

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 cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in cone photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in photoreceptor connecting cilium	IEA Inferred from Electronic Annotation more info
located_in rod photoreceptor outer segment	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: transmembrane protein 237

Names: amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_032049.1 RefSeqGene

Range

5027..28344

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001044385.3 → NP_001037850.1 transmembrane protein 237 isoform a

See identical proteins and their annotated locations for NP_001037850.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AB053301, AC007282, BP226834

Consensus CDS

CCDS46489.1

UniProtKB/Swiss-Prot

B4E1R8, B4E2R8, E9PAR8, E9PBF8, E9PG24, E9PGX0, Q53TS9, Q53TT2, Q7Z3B6, Q8IZ18, Q8NBF8, Q96CY1, Q96Q45

UniProtKB/TrEMBL

A0A087WWU1

Related

ENSP00000386264.2, ENST00000409883.7

Conserved Domains (1) summary

pfam15383
Location:140 → 384

TMEM237; Transmembrane protein 237
NM_152388.4 → NP_689601.2 transmembrane protein 237 isoform b

See identical proteins and their annotated locations for NP_689601.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AB053301, AC007279, AC007282

Consensus CDS

CCDS46490.1

UniProtKB/TrEMBL

A0A087WWU1

Related

ENSP00000387203.2, ENST00000409444.6

Conserved Domains (1) summary

pfam15383
Location:132 → 376

TMEM237; Transmembrane protein 237