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    GARIN6 golgi associated RAB2 interactor family member 6 [ Homo sapiens (human) ]

    Gene ID: 196472, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GARIN6provided by HGNC
    Official Full Name
    golgi associated RAB2 interactor family member 6provided by HGNC
    Primary source
    HGNC:HGNC:28594
    See related
    Ensembl:ENSG00000180219 AllianceGenome:HGNC:28594
    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
    FAM71C
    Expression
    Restricted expression toward testis (RPKM 10.9) See more
    Orthologs
    all
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    Genomic context

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    See GARIN6 in Genome Data Viewer
    Location:
    12q23.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (99647753..99650114)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (99612431..99614791)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (100041531..100043892)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and sterile alpha motif domain containing 1B Neighboring gene uncharacterized LOC101928937 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:99502667-99503267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6850 Neighboring gene RNA, 5S ribosomal pseudogene 366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:99548399-99548898 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31500 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4758 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:99848949-99849450 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:99849451-99849950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4759 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:100064333-100064865 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:100074143-100074643 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:100117017-100117569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:100377744-100378574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4760 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:100414790-100414953 Neighboring gene ribosomal protein S4X pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4761 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:100536197-100536960 Neighboring gene bridge-like lipid transfer protein family member 3B

    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. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514
    2. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    3. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article
    4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Homology

    Clone Names

    • MGC39520

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    Golgi-associated RAB2 interactor protein 6
    Names
    Golgi associated RAB2 interactor protein 6
    family with sequence similarity 71 member C
    protein FAM71C

    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_153364.4 → NP_699195.1  Golgi-associated RAB2 interactor protein 6

      See identical proteins and their annotated locations for NP_699195.1

      Status: VALIDATED

      Source sequence(s)
      AA401734, AC141554, AW181907, BC031221, DB055853, DB514813
      Consensus CDS
      CCDS9072.1
      UniProtKB/Swiss-Prot
      B2R6Y6, Q8NEG0
      Related
      ENSP00000315247.1, ENST00000324341.2
      Conserved Domains (1) summary
      pfam12480
      Location:115 → 183
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      99647753..99650114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      99612431..99614791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NEG0.1 GenPept UniProtKB/Swiss-Prot:Q8NEG0

    Gene LinkOut

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

    Chemical Information
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