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

Summary

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

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_000015.10 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
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?

Tn antigen promotes breast cancer metastasis via impairment of CASC4.
Title: Tn antigen promotes breast cancer metastasis via impairment of CASC4.
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.
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.
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].

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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

RH27235 (e-PCR)
- UniSTS:87581

STS-AA016055 (e-PCR)
- UniSTS:4136

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-58376 (e-PCR)
- UniSTS:26723

G35510 (e-PCR)
- UniSTS:44150

RH36905 (e-PCR)
- UniSTS:87932

RH47707 (e-PCR)
- UniSTS:40890

D15S628E (e-PCR)
- UniSTS:149967

G17838 (e-PCR)
- UniSTS:51431

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)

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
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)