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

Gene ID: 284418, updated on 5-Mar-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
Expression
Restricted expression toward testis (RPKM 16.6) See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55354908..55363260, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58450414..58458745, complement)
105.20220307 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: 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. An investigation into the human serum "interactome". Zhou M, et al. Electrophoresis, 2004 May. PMID 15174051
  2. 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
  3. 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
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
  5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

See all (7) 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)

Genotypes

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_2023_10

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.

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