U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

GEMIN4 gem nuclear organelle associated protein 4 [ Homo sapiens (human) ]

Gene ID: 50628, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
GEMIN4provided by HGNC
Official Full Name
gem nuclear organelle associated protein 4provided by HGNC
Primary source
HGNC:HGNC:15717
See related
Ensembl:ENSG00000179409 MIM:606969; AllianceGenome:HGNC:15717
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
p97; HC56; HCAP1; HHRF-1; NEDMCR
Summary
The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression
Broad expression in testis (RPKM 20.3), skin (RPKM 9.4) and 23 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
17p13.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (744421..754410, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (629497..641166, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (647661..655504, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903893 Neighboring gene Sharpr-MPRA regulatory region 11717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7942 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7945 Neighboring gene TLC domain containing 3A Neighboring gene diazepam binding inhibitor-like 5, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11440 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:685572-686120 Neighboring gene glyoxalase domain containing 4 Neighboring gene Sharpr-MPRA regulatory region 8532 Neighboring gene mitochondrial rRNA methyltransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11442 Neighboring gene nucleoredoxin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:736782-737522 Neighboring gene Sharpr-MPRA regulatory region 9814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:746053-747038 Neighboring gene uncharacterized LOC124903894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:753668-754242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:754898-755398

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Association of GEMIN4 gene polymorphisms with the risk of colorectal cancer in the Polish population. Cieślak A, et al. Pol Przegl Chir, 2021 Nov 17. PMID 35384865
  2. A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts. Aldhalaan H, et al. Genes (Basel), 2021 Dec 30. PMID 35052432, Free PMC Article
  3. Genetic variants in the microRNA machinery gene GEMIN4 are associated with risk of prostate cancer: a case-control study of the Chinese Han population. Liu J, et al. DNA Cell Biol, 2012 Jul. PMID 22506892, Free PMC Article
  4. Identification and characterisation of a nuclear localisation signal in the SMN associated protein, Gemin4. Lorson MA, et al. Biochem Biophys Res Commun, 2008 Oct 10. PMID 18675250, Free PMC Article
  5. Two variants of the human hepatocellular carcinoma-associated HCAP1 gene and their effect on the growth of the human liver cancer cell line Hep3B. Wan D, et al. Genes Chromosomes Cancer, 2004 Jan. PMID 14603441

See all (146) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
    Title: Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
  2. A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
    Title: A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts.
  3. Association of GEMIN4 gene polymorphisms with the risk of colorectal cancer in the Polish population.
    Title: Association of GEMIN4 gene polymorphisms with the risk of colorectal cancer in the Polish population.
  4. We selected five single nucleotide polymorphisms (SNPs) (rs7813, rs2740349, rs2291778, rs910924, rs595961) in two key microRNA biosynthesis genes (GEMIN4 and AGO1) and systematically evaluated the association between these SNPs, the gene-environment interaction and lung cancer risk. This is the first study showing that rs7813 and rs595961 could be meaningful as genetic markers for lung cancer risk.
    Title: Polymorphisms in GEMIN4 and AGO1 Genes Are Associated with the Risk of Lung Cancer: A Case-Control Study in Chinese Female Non-Smokers.
  5. These findings indicate that GEMIN4 functions as a novel coregulator of the MR.
    Title: GEMIN4 functions as a coregulator of the mineralocorticoid receptor.
  6. the association between the GEMIN4 gene and the risk of prostate cancer
    Title: Genetic variants in the microRNA machinery gene GEMIN4 are associated with risk of prostate cancer: a case-control study of the Chinese Han population.
  7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Role of primary miRNA polymorphic variants in metastatic colon cancer patients treated with 5-fluorouracil and irinotecan.
  8. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Black carbon exposures, blood pressure, and interactions with single nucleotide polymorphisms in MicroRNA processing genes.
  9. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of a common AGO1 variant with lung cancer risk: a two-stage case-control study.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
MedGen: C4693567 OMIM: 617913 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr is identified to have a physical interaction with gem (nuclear organelle) associated protein 4 (GEMIN4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • DKFZp434B131, DKFZp434D174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ribonucleoprotein complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in rRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in spliceosomal snRNP assembly EXP
Inferred from Experiment
more info
 PubMed 
involved_in spliceosomal snRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spliceosomal snRNP assembly IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Cajal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Gemini of coiled bodies IEA
Inferred from Electronic Annotation
more info
  
part_of SMN complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of SMN complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of SMN complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of SMN-Sm protein complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of small nuclear ribonucleoprotein complex TAS
Traceable Author Statement
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
gem-associated protein 4
Names
HCC-associated protein 1
component of gems 4
gemin-4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

  1. NG_046938.1 RefSeqGene

    Range
    5609..13452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015721.3 → NP_056536.2  gem-associated protein 4

    See identical proteins and their annotated locations for NP_056536.2

    Status: REVIEWED

    Source sequence(s)
    AC087392, BC020062, BC036024, DB455185
    Consensus CDS
    CCDS45559.1
    UniProtKB/Swiss-Prot
    P57678, Q9NZS7, Q9UG32, Q9Y4Q2
    UniProtKB/TrEMBL
    Q8WUM5
    Related
    ENSP00000321706.5, ENST00000319004.6

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    744421..754410 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436180.1 → XP_047292136.1  gem-associated protein 4 isoform X1

  2. XM_005256670.6 → XP_005256727.1  gem-associated protein 4 isoform X2

    See identical proteins and their annotated locations for XP_005256727.1

    UniProtKB/TrEMBL
    I3L2C7, Q9HBB9

  3. XM_011523911.3 → XP_011522213.1  gem-associated protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011522213.1

    UniProtKB/TrEMBL
    Q8WUM5

  4. XM_017024709.2 → XP_016880198.1  gem-associated protein 4 isoform X1

    UniProtKB/TrEMBL
    Q8WUM5

  5. XM_011523910.3 → XP_011522212.1  gem-associated protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011522212.1

    UniProtKB/TrEMBL
    Q8WUM5

  6. XM_011523913.3 → XP_011522215.1  gem-associated protein 4 isoform X2

    See identical proteins and their annotated locations for XP_011522215.1

    UniProtKB/TrEMBL
    I3L2C7, Q9HBB9

  7. XM_011523912.3 → XP_011522214.1  gem-associated protein 4 isoform X2

    See identical proteins and their annotated locations for XP_011522214.1

    UniProtKB/TrEMBL
    I3L2C7, Q9HBB9
    Related
    ENSP00000459565.1, ENST00000576778.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    629497..641166 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316332.1 → XP_054172307.1  gem-associated protein 4 isoform X1

  2. XM_054316333.1 → XP_054172308.1  gem-associated protein 4 isoform X2

    UniProtKB/TrEMBL
    Q9HC39

  3. XM_054316330.1 → XP_054172305.1  gem-associated protein 4 isoform X1

  4. XM_054316329.1 → XP_054172304.1  gem-associated protein 4 isoform X1

  5. XM_054316331.1 → XP_054172306.1  gem-associated protein 4 isoform X1

  6. XM_054316335.1 → XP_054172310.1  gem-associated protein 4 isoform X2

    UniProtKB/TrEMBL
    Q9HC39

  7. XM_054316334.1 → XP_054172309.1  gem-associated protein 4 isoform X2

    UniProtKB/TrEMBL
    Q9HC39
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P57678.2 GenPept UniProtKB/Swiss-Prot:P57678

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous