This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants ha... See more...

Aliases for TECR Gene

Aliases for TECR Gene

  • Trans-2,3-Enoyl-CoA Reductase 2 3 4 5
  • Very-Long-Chain Enoyl-CoA Reductase 2 3 4
  • TER 2 3 4
  • Synaptic Glycoprotein SC2 3 4
  • Glycoprotein, Synaptic 2 2 3
  • GPSN2 3 4
  • MRT14 2 3
  • SC2 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 1.3.1.38 51
  • EC 1.3.1.93 4
  • EC 1.3.1 51
  • TECR 5

External Ids for TECR Gene

Previous HGNC Symbols for TECR Gene

  • SC2
  • GPSN2

Previous GeneCards Identifiers for TECR Gene

  • GC19P014641
  • GC19P014210
  • GC19P014642
  • GC19P014629

Summaries for TECR Gene

Entrez Gene Summary for TECR Gene

  • This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2011]

GeneCards Summary for TECR Gene

TECR (Trans-2,3-Enoyl-CoA Reductase) is a Protein Coding gene. Diseases associated with TECR include Mental Retardation, Autosomal Recessive 14 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Metabolism and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity, acting on the CH-CH group of donors. An important paralog of this gene is TECRL.

UniProtKB/Swiss-Prot Summary for TECR Gene

  • Involved in both the production of very long-chain fatty acids for sphingolipid synthesis and the degradation of the sphingosine moiety in sphingolipids through the sphingosine 1-phosphate metabolic pathway (PubMed:25049234). Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle (PubMed:12482854). This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle (PubMed:12482854). This enzyme reduces the trans-2,3-enoyl-CoA fatty acid intermediate to an acyl-CoA that can be further elongated by entering a new cycle of elongation (PubMed:12482854). Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (PubMed:12482854). Catalyzes the saturation step of the sphingosine 1-phosphate metabolic pathway, the conversion of trans-2-hexadecenoyl-CoA to palmitoyl-CoA (PubMed:25049234).

Gene Wiki entry for TECR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TECR Gene

Genomics for TECR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TECR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TECR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TECR

Genomic Locations for TECR Gene

Genomic Locations for TECR Gene
chr19:14,517,085-14,565,980
(GRCh38/hg38)
Size:
48,896 bases
Orientation:
Plus strand
chr19:14,627,897-14,676,792
(GRCh37/hg19)
Size:
48,896 bases
Orientation:
Plus strand

Genomic View for TECR Gene

Genes around TECR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TECR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TECR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TECR Gene

Proteins for TECR Gene

  • Protein details for TECR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ01-TECR_HUMAN
    Recommended name:
    Very-long-chain enoyl-CoA reductase
    Protein Accession:
    Q9NZ01
    Secondary Accessions:
    • B2RD55
    • O75350
    • Q6IBB2
    • Q9BWK3
    • Q9Y6P0

    Protein attributes for TECR Gene

    Size:
    308 amino acids
    Molecular mass:
    36034 Da
    Quaternary structure:
    • Interacts with ELOVL1 and LASS2.

    Three dimensional structures from OCA and Proteopedia for TECR Gene

    Alternative splice isoforms for TECR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TECR Gene

Selected DME Specific Peptides for TECR Gene

Q9NZ01:
  • FVHRFSHGTMP
  • TMPLRNIFKNC
  • LRDLRPAGSK

Post-translational modifications for TECR Gene

  • Glycosylated.
  • Glycosylation at Asn247 and Asn164
  • Ubiquitination at Lys2, Lys12, Lys16, Lys22, Lys33, Lys38, Lys67, and Lys291
  • Modification sites at PhosphoSitePlus

Domains & Families for TECR Gene

Gene Families for TECR Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for TECR Gene

InterPro:
Blocks:
  • 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for TECR Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ36768 fis, clone ADIPS1000064, highly similar to Synaptic glycoprotein SC2 (B3KSQ1_HUMAN)
  • Synaptic glycoprotein SC2 (TECR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZ01

UniProtKB/Swiss-Prot:

TECR_HUMAN :
  • Belongs to the steroid 5-alpha reductase family.
Family:
  • Belongs to the steroid 5-alpha reductase family.
genes like me logo Genes that share domains with TECR: view

Function for TECR Gene

Molecular function for TECR Gene

UniProtKB/Swiss-Prot Function:
Involved in both the production of very long-chain fatty acids for sphingolipid synthesis and the degradation of the sphingosine moiety in sphingolipids through the sphingosine 1-phosphate metabolic pathway (PubMed:25049234). Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle (PubMed:12482854). This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle (PubMed:12482854). This enzyme reduces the trans-2,3-enoyl-CoA fatty acid intermediate to an acyl-CoA that can be further elongated by entering a new cycle of elongation (PubMed:12482854). Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (PubMed:12482854). Catalyzes the saturation step of the sphingosine 1-phosphate metabolic pathway, the conversion of trans-2-hexadecenoyl-CoA to palmitoyl-CoA (PubMed:25049234).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a very-long-chain 2,3-saturated fatty acyl-CoA + NADP(+) = a very-long-chain (2E)-enoyl-CoA + H(+) + NADPH; Xref=Rhea:RHEA:14473, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:83724, ChEBI:CHEBI:83728; EC=1.3.1.93; Evidence={ECO:0000269|PubMed:12482854};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=NADP(+) + octadecanoyl-CoA = (2E)-octadecenoyl-CoA + H(+) + NADPH; Xref=Rhea:RHEA:35351, ChEBI:CHEBI:15378, ChEBI:CHEBI:57394, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:71412; Evidence={ECO:0000269|PubMed:12482854};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E,7Z,10Z,13Z,16Z)-docosapentaenoyl-CoA + H(+) + NADPH = (7Z,10Z,13Z,16Z)-docosatetraenoyl-CoA + NADP(+); Xref=Rhea:RHEA:39331, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:73856, ChEBI:CHEBI:76416; Evidence={ECO:0000269|PubMed:12482854};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + H(+) + NADPH = (7Z,10Z,13Z,16Z,19Z)-docosapentaenoyl-CoA + NADP(+); Xref=Rhea:RHEA:39467, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:73870, ChEBI:CHEBI:76461; Evidence={ECO:0000269|PubMed:12482854};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E,8Z,11Z,14Z)-eicosatetraenoyl-CoA + H(+) + NADPH = (8Z,11Z,14Z)-eicosatrienoyl-CoA + NADP(+); Xref=Rhea:RHEA:39319, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:74264, ChEBI:CHEBI:76412; Evidence={ECO:0000269|PubMed:12482854};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E)-hexadecenoyl-CoA + H(+) + NADPH = hexadecanoyl-CoA + NADP(+); Xref=Rhea:RHEA:36143, ChEBI:CHEBI:15378, ChEBI:CHEBI:57379, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:61526; Evidence={ECO:0000269|PubMed:24220030, ECO:0000269|PubMed:25049234};.

Enzyme Numbers (IUBMB) for TECR Gene

Phenotypes From GWAS Catalog for TECR Gene

Gene Ontology (GO) - Molecular Function for TECR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016491 oxidoreductase activity IBA 21873635
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0102758 very-long-chain enoyl-CoA reductase activity IMP 24220030
genes like me logo Genes that share ontologies with TECR: view
genes like me logo Genes that share phenotypes with TECR: view

Human Phenotype Ontology for TECR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TECR

CRISPR Products

miRNA for TECR Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TECR

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TECR Gene

Localization for TECR Gene

Subcellular locations from UniProtKB/Swiss-Prot for TECR Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TECR gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TECR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005783 endoplasmic reticulum IEA,IDA 24220030
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TECR: view

Pathways & Interactions for TECR Gene

genes like me logo Genes that share pathways with TECR: view

UniProtKB/Swiss-Prot Q9NZ01-TECR_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.
  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for TECR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006665 sphingolipid metabolic process IMP 25049234
GO:0030497 fatty acid elongation IDA 12482854
genes like me logo Genes that share ontologies with TECR: view

No data available for SIGNOR curated interactions for TECR Gene

Drugs & Compounds for TECR Gene

(2) Drugs for TECR Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADP Experimental Pharma 0
NADPH Experimental Pharma 0

(1) Additional Compounds for TECR Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
stearoyl-coa
  • Octadecanoyl-CoA
  • Octadecanoyl-coenzyme A
  • S-Octadecanoate
  • S-Octadecanoate CoA
  • S-Octadecanoate coenzyme A
362-66-3
genes like me logo Genes that share compounds with TECR: view

Transcripts for TECR Gene

mRNA/cDNA for TECR Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TECR

Alternative Splicing Database (ASD) splice patterns (SP) for TECR Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
SP1: - - -
SP2: - -
SP3:
SP4:

Relevant External Links for TECR Gene

GeneLoc Exon Structure for
TECR

Expression for TECR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TECR Gene

Protein differential expression in normal tissues from HIPED for TECR Gene

This gene is overexpressed in Nasal epithelium (18.2), Placenta (6.8), and Fetal testis (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TECR Gene



Protein tissue co-expression partners for TECR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TECR

SOURCE GeneReport for Unigene cluster for TECR Gene:

Hs.515642

mRNA Expression by UniProt/SwissProt for TECR Gene:

Q9NZ01-TECR_HUMAN
Tissue specificity: Expressed in most tissues tested. Highly expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for TECR Gene

  • Nervous system(4.9)
  • Skin(4.8)
  • Blood(4.5)
  • Muscle(3.4)
  • Kidney(3.1)
  • Liver(3)
  • Eye(2.8)
  • Intestine(2.8)
  • Heart(2.7)
  • Lymph node(2.5)
  • Stomach(2.5)
  • Lung(2.5)
  • Adrenal gland(2.3)
  • Spleen(2.3)
  • Bone marrow(2.3)
  • Thyroid gland(2.1)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TECR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with TECR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TECR Gene

Orthologs for TECR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TECR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TECR 30 31
  • 99.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TECR 30 31
  • 93.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TECR 30 31
  • 93.72 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TECR 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tecr 30 17 31
  • 89.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tecr 30
  • 89.07 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TECR 31
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TECR 30 31
  • 68.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TECR 31
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tecr 30
  • 78.25 (n)
Str.9089 30
African clawed frog
(Xenopus laevis)
Amphibia gpsn2-prov 30
Zebrafish
(Danio rerio)
Actinopterygii tecrb 30 31
  • 78.35 (n)
OneToMany
tecra 31
  • 67 (a)
OneToMany
gpsn2 30
Fruit Fly
(Drosophila melanogaster)
Insecta Sc2 30 31
  • 61.33 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010714 30
  • 59.48 (n)
Worm
(Caenorhabditis elegans)
Secernentea art-1 30 31
  • 58.39 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER215W 30
  • 51.54 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04367g 30
  • 46.49 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TSC13 30 31 33
  • 43.53 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CER10 30
  • 49.52 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0150000 30
  • 51.48 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7956 31
  • 62 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU03362 30
  • 52.98 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC646.07c 30
  • 50.07 (n)
Species where no ortholog for TECR was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TECR Gene

ENSEMBL:
Gene Tree for TECR (if available)
TreeFam:
Gene Tree for TECR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TECR: view image

Paralogs for TECR Gene

Paralogs for TECR Gene

(2) SIMAP similar genes for TECR Gene using alignment to 10 proteins:

  • TECR_HUMAN
  • B3KSQ1_HUMAN
  • B4DR74_HUMAN
  • M0QXM3_HUMAN
  • M0QXS1_HUMAN
  • M0R0N5_HUMAN
  • M0R2E5_HUMAN
  • M0R329_HUMAN
  • M0R372_HUMAN
  • M0R3C3_HUMAN

Pseudogenes.org Pseudogenes for TECR Gene

genes like me logo Genes that share paralogs with TECR: view

Variants for TECR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TECR Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
733840 Benign: not provided 14,565,638(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
739108 Benign: not provided 14,565,673(+) C/T INTRON_VARIANT
rs10405483 Likely Benign: not specified 14,565,669(+) C/T INTRON_VARIANT
rs113855270 Likely Benign: not specified 14,562,510(+) G/A INTRON_VARIANT
rs117833765 Likely Benign: not specified 14,564,848(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TECR Gene

Structural Variations from Database of Genomic Variants (DGV) for TECR Gene

Variant ID Type Subtype PubMed ID
dgv625e199 CNV deletion 23128226
esv3643743 CNV loss 21293372
esv3643744 CNV loss 21293372
esv3643745 CNV loss 21293372
esv3643746 CNV loss 21293372

Variation tolerance for TECR Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TECR Gene

Human Gene Mutation Database (HGMD)
TECR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TECR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TECR Gene

Disorders for TECR Gene

MalaCards: The human disease database

(7) MalaCards diseases for TECR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 14
  • mrt14
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
bladder neck cancer
  • malignant neoplasm of urinary bladder neck
seborrheic infantile dermatitis
  • complement component 5 deficiency
cataract 24
  • ctrct24
- elite association - COSMIC cancer census association via MalaCards
Search TECR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TECR_HUMAN
  • Mental retardation, autosomal recessive 14 (MRT14) [MIM:614020]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21212097, ECO:0000269 PubMed:24220030}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TECR

genes like me logo Genes that share disorders with TECR: view

No data available for Genatlas for TECR Gene

Publications for TECR Gene

  1. Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade. (PMID: 12482854) Moon YA … Horton JD (The Journal of biological chemistry 2003) 2 3 4
  2. Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. (PMID: 9653160) Mao M … Chen Z (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4
  3. Dual functions of the trans-2-enoyl-CoA reductase TER in the sphingosine 1-phosphate metabolic pathway and in fatty acid elongation. (PMID: 25049234) Wakashima T … Kihara A (The Journal of biological chemistry 2014) 3 4
  4. Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile. (PMID: 24220030) Abe K … Kihara A (The Journal of biological chemistry 2013) 3 4
  5. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. (PMID: 21212097) Çalışkan M … Ober C (Human molecular genetics 2011) 3 4

Products for TECR Gene

Sources for TECR Gene