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

Gene ID: 113201, updated on 5-Mar-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
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Genomic context

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Location:
15q15.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (44288719..44415758)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (42096412..42223439)
105.20220307 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. 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
  2. Expression of HER2/neu does not correlate with survival in soft tissue sarcoma. Sato T, et al. Onkologie, 2003 Jun. PMID 12845212
  3. [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
  4. SRSF1-Regulated Alternative Splicing in Breast Cancer. Anczuków O, et al. Mol Cell, 2015 Oct 1. PMID 26431027, Free PMC Article
  5. Identification of differentially expressed genes associated with HER-2/neu overexpression in human breast cancer cells. Oh JJ, et al. Nucleic Acids Res, 1999 Oct 15. PMID 10497265, Free PMC Article

See all (28) 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)

Genotypes

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

    See identical proteins and their annotated locations for NP_612432.2

    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

    See identical proteins and their annotated locations for NP_816929.1

    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_2023_10

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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