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Aliases for TECR Gene

Aliases for TECR Gene

  • Trans-2,3-Enoyl-CoA Reductase 2 3 4 5
  • Synaptic Glycoprotein SC2 3 4
  • Glycoprotein, Synaptic 2 2 3
  • GPSN2 3 4
  • SC2 3 4
  • TER 3 4
  • Very-Long-Chain Enoyl-CoA Reductase 3
  • EC 1.3.1.38 56
  • EC 1.3.1.93 4
  • EC 1.3.1 56
  • MRT14 3

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 Fatty Acyl-CoA Biosynthesis and Fatty acid elongation. 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 for TECR Gene

  • Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle. 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. 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. 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.

Gene Wiki entry for TECR Gene

Additional gene information for TECR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TECR Gene

Genomics for TECR Gene

GeneHancer (GH) Regulatory Elements for TECR Gene

Promoters and enhancers for TECR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I014525 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.7 +11.1 11106 5.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B DNAJB1 TECR GC19P014530 GC19P014531 PIR54842 MIR639 CCDC130 AKAP8 MRI1 BRD4
GH19I014512 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 566.8 +1.4 1445 12 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC TECR DNAJB1 NOTCH3 SYDE1 AKAP8 SNRPGP15 BRD4 ENSG00000273218 GIPC1 IL27RA
GH19I014000 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.7 -513.0 -512985 7 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 NFYC RFX1 CCDC130 TRMT1 DDX39A DCAF15 ZNF333 MRI1 LOC284454 TECR PKN1
GH19I014362 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.2 -153.5 -153531 1.9 ATF1 YBX1 ZNF2 TCF12 ZNF121 GLIS2 ARID2 ATF7 SP3 NCOA1 DCAF15 DDX39A ADGRE5 RFX1 TECR ZNF333 PKN1 ADGRE2 LINC01841 LINC01842
GH19I014227 Enhancer 1 ENCODE dbSUPER 10.7 -288.8 -288836 0.7 ZNF493 ZNF335 ZNF354C ZNF138 ZNF202 ZNF680 SMAD5 ZBTB11 ZC3H11A OVOL3 CCDC130 MRI1 ZNF333 RFX1 DCAF15 DDX39A NOTCH3 SYDE1 SNRPGP15 C19orf67
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TECR on UCSC Golden Path with GeneCards custom track

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)

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.
  • Ubiquitination at posLast=22, isoforms=212, isoforms=16, posLast=2222, isoforms=33, posLast=3838, posLast=6767, and isoforms=2291
  • Glycosylation at posLast=164164 and isoforms=2247
  • Modification sites at PhosphoSitePlus

Domains & Families for TECR Gene

Gene Families for TECR Gene

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

Suggested Antigen Peptide Sequences for TECR Gene

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 CatalyticActivity:
A very-long-chain acyl-CoA + NADP(+) = a very-long-chain trans-2,3-dehydroacyl-CoA + NADPH.
UniProtKB/Swiss-Prot Function:
Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle. 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. 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. 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.

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 --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0017099 very-long-chain-acyl-CoA dehydrogenase activity TAS --
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

miRNA for TECR Gene

Clone Products

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
nucleus 5
endoplasmic reticulum 5
cytosol 3
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
lysosome 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 IDA,HDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 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.

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:0030497 fatty acid elongation IDA 12482854
GO:0035338 long-chain fatty-acyl-CoA biosynthetic process TAS --
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
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

Unigene Clusters for TECR Gene

Trans-2,3-enoyl-CoA reductase:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
TECR

Expression for TECR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TECR Gene



Protein tissue co-expression partners for TECR Gene

NURSA nuclear receptor signaling pathways regulating expression of TECR Gene:

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(4.8)
  • Skin(4.7)
  • Blood(4.4)
  • Muscle(2.8)
  • Liver(2.3)
  • Eye(2.2)
  • Kidney(2.2)
  • Intestine(2.1)
  • Lymph node(2)

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 34 33
  • 99.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TECR 34 33
  • 93.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TECR 34 33
  • 93.72 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TECR 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tecr 33 16 34
  • 89.72 (n)
rat
(Rattus norvegicus)
Mammalia Tecr 33
  • 89.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TECR 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves TECR 34 33
  • 68.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TECR 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tecr 33
  • 78.25 (n)
Str.9089 33
African clawed frog
(Xenopus laevis)
Amphibia gpsn2-prov 33
zebrafish
(Danio rerio)
Actinopterygii tecrb 34 33
  • 78.35 (n)
OneToMany
tecra 34
  • 67 (a)
OneToMany
gpsn2 33
fruit fly
(Drosophila melanogaster)
Insecta Sc2 33 34
  • 61.33 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010714 33
  • 59.48 (n)
worm
(Caenorhabditis elegans)
Secernentea art-1 33 34
  • 58.39 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER215W 33
  • 51.54 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04367g 33
  • 46.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TSC13 33 34 36
  • 43.53 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CER10 33
  • 49.52 (n)
rice
(Oryza sativa)
Liliopsida Os01g0150000 33
  • 51.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7956 34
  • 62 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU03362 33
  • 52.98 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC646.07c 33
  • 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 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)

Paralogs for TECR Gene

Paralogs for TECR Gene

Pseudogenes.org Pseudogenes for TECR Gene

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

Variants for TECR Gene

Sequence variations from dbSNP and Humsavar for TECR Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs199469705 pathogenic, Mental retardation, autosomal recessive 14, Mental retardation, autosomal recessive 14 (MRT14) [MIM:614020] 14,564,841(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs10405483 likely-benign, not specified 14,565,669(+) C/G/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 coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs552540887 likely-benign, not specified 14,562,539(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant

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

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

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 14
  • mrt14
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
seborrheic infantile dermatitis
  • complement component 5 deficiency
tinea pedis
  • athlete's foot
oral cavity cancer
  • malignant neoplasm of anterior portion of floor of mouth
- 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}. 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 58
  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 58
  3. 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 58
  4. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis. (PMID: 20937905) Ohno Y … Kihara A (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for TECR Gene

Sources for TECR Gene

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