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TENM3 teneurin transmembrane protein 3 [ Homo sapiens (human) ]

Gene ID: 55714, updated on 1-Jun-2020

Summary

Official Symbol
TENM3provided by HGNC
Official Full Name
teneurin transmembrane protein 3provided by HGNC
Primary source
HGNC:HGNC:29944
See related
Ensembl:ENSG00000218336 MIM:610083
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
ODZ3; TEN3; TNM3; ten-3; Ten-m3; MCOPCB9; MCOPS15
Summary
This gene encodes a large transmembrane protein that may be involved in the regulation of neuronal development. Mutation in this gene causes microphthalmia. [provided by RefSeq, Aug 2015]
Expression
Broad expression in placenta (RPKM 7.1), brain (RPKM 4.3) and 14 other tissues See more
Orthologs

Genomic context

See TENM3 in Genome Data Viewer
Location:
4q34.3-q35.1
Exon count:
39
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (181447613..182803024)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (183065112..183724177)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2500 Neighboring gene uncharacterized LOC107986205 Neighboring gene epithelial cell adhesion molecule pseudogene Neighboring gene TENM3 antisense transcript 1 Neighboring gene RN7SK pseudogene 13 Neighboring gene cyclin H pseudogene 1 Neighboring gene TENM3 antisense RNA 1 Neighboring gene uncharacterized LOC105377572 Neighboring gene microRNA 1305 Neighboring gene RNA, U2 small nuclear 34, pseudogene Neighboring gene RN7SK pseudogene 67 Neighboring gene uncharacterized LOC105377571 Neighboring gene chr4 t(4;18)(q35;q18) HERV-H recombination region Neighboring gene uncharacterized LOC105377576

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Microphthalmia, isolated, with coloboma 9
MedGen: C3554592 OMIM: 615145 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of preschool internalizing problems.
NHGRI GWA Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
NHGRI GWA Catalog
Genome-wide association study of multiplex schizophrenia pedigrees.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours among Bangladeshi adults.
NHGRI GWA Catalog
Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10474, FLJ10886, KIAA1455

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cell adhesion molecule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
camera-type eye morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
homophilic cell adhesion via plasma membrane adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of homophilic cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
teneurin-3
Names
ODZ3-like protein
odz, odd Oz/ten-m homolog 3
protein Odd Oz/ten-m homolog 3
tenascin-M3
testicular tissue protein Li 195

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_042859.1 RefSeqGene

    Range
    4972..564594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080477.4NP_001073946.1  teneurin-3

    See identical proteins and their annotated locations for NP_001073946.1

    Status: REVIEWED

    Source sequence(s)
    AB040888, AC079226, AC131943, AF195420, AK001336
    Consensus CDS
    CCDS47165.1
    UniProtKB/Swiss-Prot
    Q9P273
    UniProtKB/TrEMBL
    A0A140VJW8
    Related
    ENSP00000424226.1, ENST00000511685.6
    Conserved Domains (11) summary
    COG3209
    Location:16132414
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd00054
    Location:744773
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd05819
    Location:11751210
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:18231863
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:23182392
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:579731
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam06484
    Location:11308
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:522544
    EGF_2; EGF-like domain
    pfam15636
    Location:26172692
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:11461498
    NHL; NHL repeat unit of beta-propeller proteins
    cl19567
    Location:697738
    DSL; Delta serrate ligand

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    181447613..182803024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008385.1XP_016863874.1  teneurin-3 isoform X1

    Conserved Domains (11) summary
    COG3209
    Location:16292430
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd00054
    Location:753782
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd05819
    Location:11841223
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:18391879
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:23342408
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:579731
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam06484
    Location:11308
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:522544
    EGF_2; EGF-like domain
    pfam15636
    Location:26332708
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:11551514
    NHL; NHL repeat unit of beta-propeller proteins
    cl19567
    Location:697738
    DSL; Delta serrate ligand
  2. XM_017008389.1XP_016863878.1  teneurin-3 isoform X2

  3. XM_017008390.1XP_016863879.1  teneurin-3 isoform X3

  4. XM_017008391.1XP_016863880.1  teneurin-3 isoform X4

  5. XM_017008392.1XP_016863881.1  teneurin-3 isoform X5

  6. XM_017008393.1XP_016863882.1  teneurin-3 isoform X6

    UniProtKB/Swiss-Prot
    Q9P273
    UniProtKB/TrEMBL
    A0A140VJW8
    Conserved Domains (11) summary
    COG3209
    Location:16132414
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd00054
    Location:744773
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd05819
    Location:11751210
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:18231863
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:23182392
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:579731
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam06484
    Location:11308
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:522544
    EGF_2; EGF-like domain
    pfam15636
    Location:26172692
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:11461498
    NHL; NHL repeat unit of beta-propeller proteins
    cl19567
    Location:697738
    DSL; Delta serrate ligand
  7. XM_017008394.1XP_016863883.1  teneurin-3 isoform X7

  8. XM_017008386.1XP_016863875.1  teneurin-3 isoform X1

    Conserved Domains (11) summary
    COG3209
    Location:16292430
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd00054
    Location:753782
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd05819
    Location:11841223
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:18391879
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:23342408
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:579731
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam06484
    Location:11308
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:522544
    EGF_2; EGF-like domain
    pfam15636
    Location:26332708
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:11551514
    NHL; NHL repeat unit of beta-propeller proteins
    cl19567
    Location:697738
    DSL; Delta serrate ligand
  9. XM_017008387.2XP_016863876.1  teneurin-3 isoform X1

    Conserved Domains (11) summary
    COG3209
    Location:16292430
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd00054
    Location:753782
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd05819
    Location:11841223
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:18391879
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:23342408
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:579731
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam06484
    Location:11308
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:522544
    EGF_2; EGF-like domain
    pfam15636
    Location:26332708
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:11551514
    NHL; NHL repeat unit of beta-propeller proteins
    cl19567
    Location:697738
    DSL; Delta serrate ligand
  10. XM_017008388.1XP_016863877.1  teneurin-3 isoform X1

    Conserved Domains (11) summary
    COG3209
    Location:16292430
    RhsA; Uncharacterized conserved protein RhaS, contains 28 RHS repeats [General function prediction only]
    cd00054
    Location:753782
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd05819
    Location:11841223
    NHL; NHL repeat [structural motif]
    TIGR01643
    Location:18391879
    YD_repeat_2x; YD repeat (two copies)
    TIGR03696
    Location:23342408
    Rhs_assc_core; RHS repeat-associated core domain
    pfam01500
    Location:579731
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam06484
    Location:11308
    Ten_N; Teneurin Intracellular Region
    pfam07974
    Location:522544
    EGF_2; EGF-like domain
    pfam15636
    Location:26332708
    Tox-GHH; GHH signature containing HNH/Endo VII superfamily nuclease toxin
    cl18310
    Location:11551514
    NHL; NHL repeat unit of beta-propeller proteins
    cl19567
    Location:697738
    DSL; Delta serrate ligand
  11. XM_017008396.1XP_016863885.1  teneurin-3 isoform X9

  12. XM_017008395.1XP_016863884.1  teneurin-3 isoform X8

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