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    GOLM2 golgi membrane protein 2 [ Homo sapiens (human) ]

    Gene ID: 113201, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GOLM2provided by HGNC
    Official Full Name
    golgi membrane protein 2provided by HGNC
    Primary source
    HGNC:HGNC:24892
    See related
    Ensembl:ENSG00000166734 AllianceGenome:HGNC:24892
    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
    H63; CASC4
    Summary
    The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 38.2), adrenal (RPKM 35.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GOLM2 in Genome Data Viewer
    Location:
    15q15.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (44288719..44415758)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (42096412..42223439)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (44580917..44707956)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene FERM domain containing 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44281101-44281938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44281939-44282775 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44313333-44313547 Neighboring gene ACTB pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 1582 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 55 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44487353-44487854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:44487855-44488354 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44489254-44489489 Neighboring gene MPRA-validated peak2318 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44554114-44554319 Neighboring gene Sharpr-MPRA regulatory region 13790 Neighboring gene Sharpr-MPRA regulatory region 4392 Neighboring gene Sharpr-MPRA regulatory region 4287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9336 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 43 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:44695413-44695632 Neighboring gene uncharacterized LOC124903479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44718729-44719336 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44719337-44719944 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:44719945-44720551 Neighboring gene CTD small phosphatase like 2 Neighboring gene heterogeneous nuclear ribonucleoprotein M pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Tn antigen promotes breast cancer metastasis via impairment of CASC4. Li R, et al. Cell Biol Int, 2023 Nov. PMID 37493437
    2. [Evaluation of her-2/neu amplification/overexpression in OSCC with fluorescence in situ hybridization (FISH) and immunohistochemistry]. Scheer M, et al. Mund Kiefer Gesichtschir, 2003 May. PMID 12764679
    3. Expression of HER2/neu does not correlate with survival in soft tissue sarcoma. Sato T, et al. Onkologie, 2003 Jun. PMID 12845212
    4. Shedding of cancer susceptibility candidate 4 by the convertases PC7/furin unravels a novel secretory protein implicated in cancer progression. Duval S, et al. Cell Death Dis, 2020 Aug 20. PMID 32820145, Free PMC Article
    5. SRSF1-Regulated Alternative Splicing in Breast Cancer. Anczuków O, et al. Mol Cell, 2015 Oct 1. PMID 26431027, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tn antigen promotes breast cancer metastasis via impairment of CASC4.
      Title: Tn antigen promotes breast cancer metastasis via impairment of CASC4.
    2. Shedding of cancer susceptibility candidate 4 by the convertases PC7/furin unravels a novel secretory protein implicated in cancer progression.
      Title: Shedding of cancer susceptibility candidate 4 by the convertases PC7/furin unravels a novel secretory protein implicated in cancer progression.
    3. Of 62 analyzed specimens, 43 tumors were HER2/neu negative compared to 19 HER2/neu positive tumors. Kaplan-Meier analysis indicated no difference in survival according to HER2/neu expression (p = 0.31, log-rank test = 1.10
      Title: Expression of HER2/neu does not correlate with survival in soft tissue sarcoma.
    4. In spite of missing correlation between survival and her-2/ neu overexpression in our study, the predictive value of the her-2/ neu protooncogene in adjuvant therapy in OSCC needs further investigation.
      Title: [Evaluation of her-2/neu amplification/overexpression in OSCC with fluorescence in situ hybridization (FISH) and immunohistochemistry].
    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

    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

    Homology

    Clone Names

    • MGC74708, DKFZp459F1927

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein GOLM2
    Names
    cancer susceptibility 4
    cancer susceptibility candidate 4
    cancer susceptibility candidate gene 4 protein
    gene associated with HER-2/neu overexpression
    protein CASC4

    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)

    1. NM_138423.4 → NP_612432.2  protein GOLM2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AL832840, BC012124, BI467176, DB229269
      Consensus CDS
      CCDS10108.1
      UniProtKB/Swiss-Prot
      B4DPZ6, G5E934, Q6P4E1, Q6UY45, Q96EM1
      UniProtKB/TrEMBL
      A8K4R1
      Related
      ENSP00000299957.6, ENST00000299957.11
      Conserved Domains (2) summary
      TIGR02168
      Location:42 → 200
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl27123
      Location:169 → 266
      Arch_fla_DE; Archaeal flagella protein

    2. NM_177974.3 → NP_816929.1  protein GOLM2 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.
      Source sequence(s)
      AC025043, AY358086, BC012124, BI467176, DB229269
      Consensus CDS
      CCDS10109.1
      UniProtKB/TrEMBL
      A8K4R1
      Related
      ENSP00000335063.4, ENST00000345795.6
      Conserved Domains (1) summary
      cl19219
      Location:118 → 193
      DUF342; Protein of unknown function (DUF342)

    RNA

    1. NR_157849.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC025043, AC090519

    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

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      44288719..44415758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      42096412..42223439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P4E1.2 GenPept UniProtKB/Swiss-Prot:Q6P4E1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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