TENM4 teneurin transmembrane protein 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TENM4provided by HGNC
Official Full Name: teneurin transmembrane protein 4provided by HGNC
Primary source: HGNC:HGNC:29945
See related: Ensembl:ENSG00000149256 MIM:610084; AllianceGenome:HGNC:29945
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: Doc4; ETM5; ODZ4; TEN4; TNM4; ten-4; Ten-M4
Summary: The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]
Expression: Biased expression in ovary (RPKM 7.7), thyroid (RPKM 3.2) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q14.1

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (78652829..79441030, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (78586105..79375273, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (78363874..79152074, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.
Title: Han family with essential tremor caused by the P421L variant of the TENM4 gene in China.
This study demonstrated the TENM4 mutation associate with Essential tremor in Chinese.
Title: Essential tremor linked TENM4 mutation found in healthy Chinese individuals.
TENM4 is not a cause for essential tremor in a Canadian population.
Title: Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. Mutant proteins mislocalize in oligodendrocyte precursor cells.
Title: Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.
the ODZ4 risk variant influences reward processing in the amygdala
Title: The risk variant in ODZ4 for bipolar disorder impacts on amygdala activation during reward processing.
Ten-4 suppresses chondrogenic differentiation and regulates the expression and activation of the key molecules for chondrogenesis
Title: Teneurin-4, a transmembrane protein, is a novel regulator that suppresses chondrogenic differentiation.
Data indicate that expression of several predicted chimeric genes and genes with disrupted exon structure including ALK, NBAS, FHIT, PTPRD and ODZ4 in neuroblastoma.
Title: Breakpoint features of genomic rearrangements in neuroblastoma with unbalanced translocations and chromothripsis.
An intronic variant in ODZ4 is being associated with bipolar disorder.
Title: Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
Observational study of gene-disease association. (HuGE Navigator)
Title: Generalist genes analysis of DNA markers associated with mathematical ability and disability reveals shared influence across ages and abilities.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Tremor, hereditary essential, 5 MedGen: C4225223 OMIM: 616736 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of retinopathy in individuals without diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study reveals two new risk loci for bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 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

AFM203vg1 (e-PCR), detects polymorphism
- UniSTS:88334

SHGC-132323 (e-PCR)
- UniSTS:170777

D11S4656 (e-PCR)
- UniSTS:17192

ODZ4_3312 (e-PCR)
- UniSTS:462380

SHGC-143894 (e-PCR)
- UniSTS:172082

D11S2380 (e-PCR)
- UniSTS:12595

D11S862 (e-PCR)
- UniSTS:147002

D11S980E (e-PCR)
- UniSTS:74564

D11S4172 (e-PCR), detects polymorphism
- UniSTS:30283

STS-T94418 (e-PCR)
- UniSTS:49495

D11S3968 (e-PCR)
- UniSTS:17762

SHGC-112402 (e-PCR)
- UniSTS:182373

D11S1352 (e-PCR)
- UniSTS:9072

SHGC-149869 (e-PCR)
- UniSTS:177270

WI-21054 (e-PCR)
- UniSTS:4471

AFMa140wa9 (e-PCR)
- UniSTS:13943

RH123483 (e-PCR)
- UniSTS:135806

D11S1262 (e-PCR)
- UniSTS:148355

SHGC-30999 (e-PCR)
- UniSTS:27782

STS-M55683 (e-PCR)
- UniSTS:24479

D11S918 (e-PCR), detects polymorphism
- UniSTS:47270

D11S1281 (e-PCR)
- UniSTS:62888

RH91134 (e-PCR)
- UniSTS:86441

D11S980E (e-PCR)
- UniSTS:473002

SHGC-144849 (e-PCR)
- UniSTS:172458

SHGC-82573 (e-PCR)
- UniSTS:95662

D11S1352 (e-PCR)
- UniSTS:35004

D11S3268 (e-PCR)
- UniSTS:152511

D11S3794 (e-PCR)
- UniSTS:153024

D11S4166 (e-PCR), detects polymorphism
- UniSTS:51392

SHGC-149167 (e-PCR)
- UniSTS:176841

D11S2821 (e-PCR)
- UniSTS:152010

D11S4620 (e-PCR)
- UniSTS:30682

SHGC-149621 (e-PCR)
- UniSTS:177120

SHGC-78882 (e-PCR)
- UniSTS:95723

SHGC-104507 (e-PCR)
- UniSTS:168939

D11S1027 (e-PCR)
- UniSTS:57069

SHGC-147083 (e-PCR)
- UniSTS:175600

D11S1976 (e-PCR)
- UniSTS:62451

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cell adhesion molecule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein homodimerization activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cardiac cell fate specification	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in central nervous system myelin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in central nervous system myelin formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in gastrulation with mouth forming second	IEA Inferred from Electronic Annotation more info
involved_in neuron development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gastrulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of myelination	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of oligodendrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in synaptic membrane adhesion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: teneurin-4

Names: downstream of CHOP 4; odz, odd Oz/ten-m homolog 4; protein Odd Oz/ten-m homolog 4; tenascin-M4

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_051803.1 RefSeqGene

Range

4622..792823

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001098816.3 → NP_001092286.2 teneurin-4

See identical proteins and their annotated locations for NP_001092286.2

Status: REVIEWED

Source sequence(s)

AB037723, AP001838, AP002515, AP002768, AP002957, BX640737, DR000247

Consensus CDS

CCDS44688.1

UniProtKB/Swiss-Prot

A6ND26, Q6N022, Q7Z3C7, Q96MS6, Q9P2P4, Q9Y4S2

Related

ENSP00000278550.7, ENST00000278550.12

Conserved Domains (10) summary

COG3209
Location:1682 → 2474

RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]

cd05819
Location:1232 → 1271

NHL; NHL repeat [structural motif]

TIGR01643
Location:1676 → 1716

YD_repeat_2x; YD repeat (two copies)

TIGR03696
Location:2382 → 2461

Rhs_assc_core; RHS repeat-associated core domain

pfam01500
Location:627 → 775

Keratin_B2; Keratin, high sulfur B2 protein

pfam06484
Location:11 → 340

Ten_N; Teneurin Intracellular Region

pfam07974
Location:631 → 657

EGF_2; EGF-like domain

pfam15636
Location:2687 → 2762

Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin

cl18310
Location:1222 → 1563

NHL; NHL repeat unit of beta-propeller proteins

cl19567
Location:745 → 786

DSL; Delta serrate ligand

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

78652829..79441030 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426739.1 → XP_047282695.1 teneurin-4 isoform X5
XM_047426737.1 → XP_047282693.1 teneurin-4 isoform X3
XM_047426736.1 → XP_047282692.1 teneurin-4 isoform X2
XM_017017525.2 → XP_016873014.1 teneurin-4 isoform X1
XM_047426742.1 → XP_047282698.1 teneurin-4 isoform X8
XM_047426741.1 → XP_047282697.1 teneurin-4 isoform X7
XM_047426740.1 → XP_047282696.1 teneurin-4 isoform X6
XM_047426738.1 → XP_047282694.1 teneurin-4 isoform X4
XM_011544933.4 → XP_011543235.1 teneurin-4 isoform X9

Conserved Domains (6) summary

COG3209
Location:750 → 1446

RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]

cd05819
Location:380 → 419

NHL; NHL repeat [structural motif]

TIGR01643
Location:824 → 864

YD_repeat_2x; YD repeat (two copies)

TIGR03696
Location:1530 → 1609

Rhs_assc_core; RHS repeat-associated core domain

pfam15636
Location:1835 → 1910

Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin

cl18310
Location:370 → 711

NHL; NHL repeat unit of beta-propeller proteins