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

Gene ID: 196472, updated on 5-Mar-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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Location:
12q23.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (99647753..99650114)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (99612431..99614791)
105.20220307 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)

Genotypes

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_2023_10

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

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