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    GARIN5B golgi associated RAB2 interactor family member 5B [ Homo sapiens (human) ]

    Gene ID: 284418, updated on 27-Dec-2024

    Summary

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    Official Symbol
    GARIN5Bprovided by HGNC
    Official Full Name
    golgi associated RAB2 interactor family member 5Bprovided by HGNC
    Primary source
    HGNC:HGNC:25278
    See related
    Ensembl:ENSG00000180043 AllianceGenome:HGNC:25278
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAM71E2; C19orf16
    Summary
    Predicted to act upstream of or within cell morphogenesis; single fertilization; and vacuole organization. Predicted to be active in sperm head. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 16.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See GARIN5B in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55354908..55363260, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58450414..58458745, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55866276..55874628, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11023 Neighboring gene lysine methyltransferase 5C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55855204-55856008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55856009-55856814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55858005-55858699 Neighboring gene cytochrome c oxidase subunit 6B2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11024 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55871113-55871613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55874435-55875039 Neighboring gene interleukin 11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55880086-55880927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55881771-55882611 Neighboring gene CRISPRi-validated cis-regulatory element chr19.6204 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55885919-55886140 Neighboring gene transmembrane protein 190

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. An investigation into the human serum "interactome". Zhou M, et al. Electrophoresis, 2004 May. PMID 15174051
    2. Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets. Mihalič F, et al. Nat Commun, 2023 Sep 13. PMID 37704626, Free PMC Article
    3. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article
    5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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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    Potential readthrough

    Included gene: COX6B2

    Homology

    Clone Names

    • MGC35045, DKFZp434G1729

    General protein information

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    Preferred Names
    Golgi-associated RAB2 interactor protein 5B
    Names
    Golgi associated RAB2 interactor protein 5B
    family with sequence similarity 71 member E2
    protein FAM71E2
    putative protein FAM71E2

    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_001145402.2 → NP_001138874.1  Golgi-associated RAB2 interactor protein 5B

      See identical proteins and their annotated locations for NP_001138874.1

      Status: VALIDATED

      Source sequence(s)
      AC020922, AK127979, AL834316, BC031875, KF573705
      UniProtKB/Swiss-Prot
      Q8N5Q1, Q8ND99
      Related
      ENSP00000398617.1, ENST00000424985.3
      Conserved Domains (3) summary
      PHA03247
      Location:363 → 616
      PHA03247; large tegument protein UL36; Provisional
      PRK14951
      Location:423 → 546
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional
      pfam12480
      Location:98 → 159
      DUF3699; Protein of unknown function (DUF3699)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55354908..55363260 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58450414..58458745 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5Q1.3 GenPept UniProtKB/Swiss-Prot:Q8N5Q1

    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