MAGEC3 MAGE family member C3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGEC3provided by HGNC
Official Full Name: MAGE family member C3provided by HGNC
Primary source: HGNC:HGNC:23798
See related: Ensembl:ENSG00000165509 MIM:300469; AllianceGenome:HGNC:23798
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: HCA2; CT7.2; MAGEC4; MAGE-C3
Summary: This gene is a member of the MAGEC gene family. The members of this family are not expressed in normal tissues, except for testis, and are expressed in tumors of various histological types. The MAGEC genes are clustered on chromosome Xq26-q27. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: Xq27.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (141838316..141897832)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (140147128..140206644)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (140926102..140985618)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nicotinic acid suppresses sebaceous lipogenesis of human sebocytes via activating hydroxycarboxylic acid receptor 2 (HCA2 ).
Title: Nicotinic acid suppresses sebaceous lipogenesis of human sebocytes via activating hydroxycarboxylic acid receptor 2 (HCA(2) ).
The data support an important role for prostaglandin activation of sAC and PKA in H2O2-induced barrier disruption.
Title: Soluble adenylyl cyclase mediates hydrogen peroxide-induced changes in epithelial barrier function.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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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Markers

G67199 (e-PCR)
- UniSTS:186385

NoName (e-PCR)
- UniSTS:484189

MAGEC3__7360 (e-PCR)
- UniSTS:471487

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: melanoma-associated antigen C3

Names: MAGE family testis and tumor-specific protein; MAGE-C3 antigen; cancer/testis antigen 7.2; cancer/testis antigen family 7, member 2; hepatocellular carcinoma-associated antigen 2; hepatocellular carcinoma-associated protein HCA2; melanoma antigen family C, 3; melanoma antigen family C3

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.

Genomic

NG_013272.1 RefSeqGene

Range

5001..64517

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_138702.1 → NP_619647.1 melanoma-associated antigen C3 isoform 1

See identical proteins and their annotated locations for NP_619647.1

Status: REVIEWED

Description

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

Source sequence(s)

AF490508

Consensus CDS

CCDS14676.1

UniProtKB/Swiss-Prot

Q3SYA7, Q5JZ43, Q8TD91, Q9BZ80

Related

ENSP00000298296.1, ENST00000298296.1
NM_177456.2 → NP_803251.1 melanoma-associated antigen C3 isoform 2

See identical proteins and their annotated locations for NP_803251.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has several alternate splice sites, as compared to variant 1. It encodes the shorter isoform (2), which has different N- and C-termini, as compared to isoform 1.

Source sequence(s)

AL022152

Consensus CDS

CCDS14677.1

UniProtKB/Swiss-Prot

Q8TD91

Related

ENSP00000440444.1, ENST00000544766.5

Conserved Domains (1) summary

pfam01454
Location:165 → 333

MAGE; MAGE family