U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 284418, updated on 4-Jan-2025

Summary

Go to the top of the page Help
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, Jan 2025]
Expression
Restricted expression toward testis (RPKM 16.6) 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
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

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: 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

Go to the top of the pageHelp

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

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

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)

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

Potential readthrough

Included gene: COX6B2

Homology

Clone Names

  • MGC35045, DKFZp434G1729

General protein information

Go to the top of the page Help
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)

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.

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