TERT telomerase reverse transcriptase [Homo sapiens (human)] - Gene

Summary

Official Symbol: TERTprovided by HGNC
Official Full Name: telomerase reverse transcriptaseprovided by HGNC
Primary source: HGNC:HGNC:11730
See related: Ensembl:ENSG00000164362 MIM:187270; AllianceGenome:HGNC:11730
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: TP2; TRT; CMM9; EST2; TCS1; hTRT; DKCA2; DKCB4; hEST2; PFBMFT1
Summary: Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 5p15.33

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (1253167..1295068, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (1160074..1202878, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (1253282..1295183, complement)

Chromosome 5 - NC_000005.10 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?

Modulation of dynamic DNA G-quadruplex structures in the hTERT promoter region by ligands.
Title: Modulation of dynamic DNA G-quadruplex structures in the hTERT promoter region by ligands.
Fructose-1,6-bisphosphatase 1 dephosphorylates and inhibits TERT for tumor suppression.
Title: Fructose-1,6-bisphosphatase 1 dephosphorylates and inhibits TERT for tumor suppression.
Crosstalk between BER and NHEJ in XRCC4-Deficient Cells Depending on hTERT Overexpression.
Title: Crosstalk between BER and NHEJ in XRCC4-Deficient Cells Depending on hTERT Overexpression.
TERT Promoter Mutations Increase Tumor Aggressiveness by Altering TERT mRNA Splicing in Papillary Thyroid Carcinoma.
Title: TERT Promoter Mutations Increase Tumor Aggressiveness by Altering TERT mRNA Splicing in Papillary Thyroid Carcinoma.
TERT activation targets DNA methylation and multiple aging hallmarks.
Title: TERT activation targets DNA methylation and multiple aging hallmarks.
Association and causal impact of TERT genetic variants on peripheral blood leukocyte telomere length and cerebral small vessel disease risk in a Chinese Han population: a mendelian randomization analysis.
Title: Association and causal impact of TERT genetic variants on peripheral blood leukocyte telomere length and cerebral small vessel disease risk in a Chinese Han population: a mendelian randomization analysis.
Distinct transcriptional and prognostic impacts of TERT promoter mutations C228T and C250T in papillary thyroid carcinoma.
Title: Distinct transcriptional and prognostic impacts of TERT promoter mutations C228T and C250T in papillary thyroid carcinoma.
SMAR1 suppresses the cancer stem cell population via hTERT repression in colorectal cancer cells.
Title: SMAR1 suppresses the cancer stem cell population via hTERT repression in colorectal cancer cells.
A systematic analysis with the hierarchical cluster analysis strategy on the complex interaction of TERT and CTNNB1 somatic mutations in Vietnamese hepatocellular carcinoma patients.
Title: A systematic analysis with the hierarchical cluster analysis strategy on the complex interaction of TERT and CTNNB1 somatic mutations in Vietnamese hepatocellular carcinoma patients.
Association of BRAF or TERT Promoter Mutations and Advanced Papillary Thyroid Carcinoma.
Title: Association of BRAF or TERT Promoter Mutations and Advanced Papillary Thyroid Carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (1968)

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
Acute myeloid leukemia MedGen: C0023467 OMIM: 601626 GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	Compare labs
Aplastic anemia MedGen: C0002874 OMIM: 609135 GeneReviews: Not available	Compare labs
Dyskeratosis congenita, autosomal dominant 1 MedGen: C4551974 OMIM: 127550 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders	Compare labs
Dyskeratosis congenita, autosomal dominant 2 MedGen: C3151443 OMIM: 613989 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders	Compare labs
Interstitial lung disease 2 MedGen: C5561926 OMIM: 178500 GeneReviews: Pulmonary Fibrosis Predisposition Overview	Compare labs
Melanoma, cutaneous malignant, susceptibility to, 9 MedGen: C3554574 OMIM: 615134 GeneReviews: Not available	Compare labs
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 MedGen: C3553617 OMIM: 614742 GeneReviews: Pulmonary Fibrosis Predisposition Overview, Dyskeratosis Congenita and Related Telomere Biology Disorders	Compare labs

EBI GWAS Catalog

Description
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Chromosome 7p11.2 (EGFR) variation influences glioma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic correction of PSA values using sequence variants associated with PSA levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies five susceptibility loci for glioma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci associated with bladder cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three new melanoma susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of glioma and meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Lung cancer susceptibility locus at 5p15.33. EBI GWAS Catalog EBI GWAS CatalogPubMed
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Telomerase activity in normal CD34+ hematopoietic progenitor cells (HPC) exposed to recombinant gp120 is significantly reduced	PubMed
Tat	tat	HIV-1 Tat downregulates the expression of HSP90 in CD4+ T cells, which may contribute to the impairment of hTERT stability and activation in Tat exposed cells	PubMed
	tat	HIV-1 Tat upregulates the total levels of PP2A protein and downregulates the inactive form of phosphorylated PP2A, which leads to inhibit hTERT activity directly or indirectly in CD4+ T cells	PubMed
	tat	HIV-1 Tat downregulates the amount of TERT component in the nucleus, where this subunit is required for telomere elongation	PubMed
	tat	Inhibition of hTERT results in the upregulation of HIV-1 Tat-induced overexpression of intercellular adhesion molecule-1 (ICAM-1) via the nuclear factor-kappaB-regulated mechanism	PubMed
Vpr	vpr	The interaction of HIV-1 Vpr with the EDVP E3 ligase complex (EDD, DDB1, and VPRBP) promotes Vpr-mediated downregulation of TERT protein	PubMed
	vpr	HIV-1 Vpr inhibits telomerase activity via TERT protein downregulation in a dose- and time-dependent manner. Vpr mutants Q65R, F72L, and R77Q fail to downregulate TERT protein	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

PMC99947P1 (e-PCR)
- UniSTS:273708

PMC133987P6 (e-PCR)
- UniSTS:270704

PMC209426P1 (e-PCR)
- UniSTS:271993

PMC166208P1 (e-PCR)
- UniSTS:271577

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA-dependent RNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA-directed DNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA-directed DNA polymerase activity	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables telomerase RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables telomerase RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables telomerase RNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables telomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables telomerase activity	TAS Traceable Author Statement more info	PubMed
enables telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables template-free RNA nucleotidyltransferase	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA strand elongation	IDA Inferred from Direct Assay more info	PubMed
involved_in RNA-templated DNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in RNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization to telomere	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrion organization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cellular senescence	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endothelial cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of D-glucose import	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of hair cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of miRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of nitric-oxide synthase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to nucleolus	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stem cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transdifferentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein stability	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in replicative senescence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in siRNA processing	IDA Inferred from Direct Assay more info	PubMed
involved_in siRNA transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance	TAS Traceable Author Statement more info	PubMed
involved_in telomere maintenance via recombination	NAS Non-traceable Author Statement more info	PubMed
involved_in telomere maintenance via telomerase	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance via telomerase	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with PML body	IDA Inferred from Direct Assay more info	PubMed
part_of RNA-directed RNA polymerase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of TERT-RMRP complex	IDA Inferred from Direct Assay more info	PubMed
part_of TERT-RMRP complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromosome, telomeric region	IC Inferred by Curator more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IDA Inferred from Direct Assay more info
part_of nuclear telomere cap complex	IC Inferred by Curator more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of telomerase catalytic core complex	IBA Inferred from Biological aspect of Ancestor more info
part_of telomerase catalytic core complex	IDA Inferred from Direct Assay more info	PubMed
part_of telomerase catalytic core complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of telomerase catalytic core complex	IPI Inferred from Physical Interaction more info	PubMed
part_of telomerase catalytic core complex	NAS Non-traceable Author Statement more info	PubMed
part_of telomerase holoenzyme complex	IDA Inferred from Direct Assay more info	PubMed
part_of telomerase holoenzyme complex	IPI Inferred from Physical Interaction more info	PubMed
part_of telomerase holoenzyme complex	NAS Non-traceable Author Statement more info	PubMed
part_of telomerase holoenzyme complex	TAS Traceable Author Statement more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: telomerase reverse transcriptase

Names: telomerase catalytic subunit; telomerase-associated protein 2

NP_001180305.1

EC 2.7.7.49

NP_937983.2

EC 2.7.7.49

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_009265.1 RefSeqGene

Range

5001..46881

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_343

mRNA and Protein(s)

NM_001193376.3 → NP_001180305.1 telomerase reverse transcriptase isoform 2

See identical proteins and their annotated locations for NP_001180305.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AB085628, AC114291, AF015950

Consensus CDS

CCDS54831.1

UniProtKB/Swiss-Prot

O14746

Related

ENSP00000334346.6, ENST00000334602.10

Conserved Domains (3) summary

smart00975
Location:460 → 594

Telomerase_RBD; Telomerase ribonucleoprotein complex - RNA binding domain

cd01648
Location:825 → 884

TERT; TERT: Telomerase reverse transcriptase (TERT). Telomerase is a ribonucleoprotein (RNP) that synthesizes telomeric DNA repeats. The telomerase RNA subunit provides the template for synthesis of these repeats. The catalytic subunit of RNP is known as ...

cl02808
Location:618 → 729

RT_like; RT_like: Reverse transcriptase (RT, RNA-dependent DNA polymerase)_like family. An RT gene is usually indicative of a mobile element such as a retrotransposon or retrovirus. RTs occur in a variety of mobile elements, including retrotransposons, ...
NM_198253.3 → NP_937983.2 telomerase reverse transcriptase isoform 1

See identical proteins and their annotated locations for NP_937983.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC114291, AF015950, AF018167

Consensus CDS

CCDS3861.2

UniProtKB/Swiss-Prot

O14746, O14783, Q2XS35, Q8N6C3, Q8NG38, Q8NG46

Related

ENSP00000309572.5, ENST00000310581.10

Conserved Domains (3) summary

smart00975
Location:460 → 594

Telomerase_RBD; Telomerase ribonucleoprotein complex - RNA binding domain

cd01648
Location:825 → 936

TERT; TERT: Telomerase reverse transcriptase (TERT). Telomerase is a ribonucleoprotein (RNP) that synthesizes telomeric DNA repeats. The telomerase RNA subunit provides the template for synthesis of these repeats. The catalytic subunit of RNP is known as ...

cl02808
Location:618 → 729

RT_like; RT_like: Reverse transcriptase (RT, RNA-dependent DNA polymerase)_like family. An RT gene is usually indicative of a mobile element such as a retrotransposon or retrovirus. RTs occur in a variety of mobile elements, including retrotransposons, ...

RNA

NR_149162.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AB086379, AC114291
NR_149163.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AB086950, AC114291

Related

ENST00000460137.6

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_000005.10 Reference GRCh38.p14 Primary Assembly

Range

1253167..1295068 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

1160074..1202878 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_198254.1: Suppressed sequence

Description

NM_198254.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_198255.2: Suppressed sequence

Description

NM_198255.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.