CTAGE1 cutaneous T cell lymphoma-associated antigen 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CTAGE1provided by HGNC
Official Full Name: cutaneous T cell lymphoma-associated antigen 1provided by HGNC
Primary source: HGNC:HGNC:24346
See related: Ensembl:ENSG00000212710 MIM:608856; AllianceGenome:HGNC:24346
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CTAGE; CT21.1; CT21.2; CTAGE-1; CTAGE-2
Summary: Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport; protein secretion; and vesicle cargo loading. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum exit site and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 18q11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (22413599..22417915, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (22599922..22604238, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (19993562..19997878, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SYCP1, cTAGE1, and GTSF1 are expressed in cutaneous T-cell lymphoma, but not in normal skin or benign inflammatory dermatoses.
Title: Ectopic expression of cancer-testis antigens in cutaneous T-cell lymphoma patients.
Loss of TSC2 in the brain correlates with survival and abnormal behavior.
Title: Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.
cTAGE-1 and cTAGE-5 are new cancer germline antigens and that tumor-specific splicing of cTAGE genes may lead to further candidate proteins for specific immunotherapy of cutaneous T cell lymphoma and other malignancies.
Title: cTAGE: a cutaneous T cell lymphoma associated antigen family with tumor-specific splicing.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. 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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Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein secretion	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle cargo loading	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum exit site	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cTAGE family member 2

Names: cancer/testis antigen 21.2; cancer/testis antigen family 21, member 1; cancer/testis antigen family 21, member 2; cutaneous T-cell lymphoma-associated antigen 2; protein cTAGE-2

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.

mRNA and Protein(s)

NM_172241.3 → NP_758441.2 cTAGE family member 2

See identical proteins and their annotated locations for NP_758441.2

Status: VALIDATED

Source sequence(s)

AC099849

Consensus CDS

CCDS45837.1

UniProtKB/Swiss-Prot

A2RUF2, Q96RT6

UniProtKB/TrEMBL

Q8NEG8

Related

ENSP00000375220.2, ENST00000391403.4

Conserved Domains (1) summary

cl25732
Location:55 → 350

SMC_N; RecF/RecN/SMC N terminal domain

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_000018.10 Reference GRCh38.p14 Primary Assembly

Range

22413599..22417915 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_014040928.1 Reference GRCh38.p14 PATCHES

Range

24920..29236 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

22599922..22604238 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_022663.1: Suppressed sequence

Description

NM_022663.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.