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GARIN2 golgi associated RAB2 interactor family member 2 [ Homo sapiens (human) ]

Gene ID: 161142, updated on 3-Apr-2024

Summary

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Official Symbol
GARIN2provided by HGNC
Official Full Name
golgi associated RAB2 interactor family member 2provided by HGNC
Primary source
HGNC:HGNC:20101
See related
Ensembl:ENSG00000172717 MIM:619898; AllianceGenome:HGNC:20101
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
FAM71D; GARI-L1; GARI-L2; C14orf54
Expression
Restricted expression toward testis (RPKM 6.6) See more
Orthologs
mouse all
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Genomic context

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Location:
14q23.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67189440..67228558)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61396563..61435683)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (67656157..67695275)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene probable ribosome biogenesis protein RLP24 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35856 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35883 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:67399728-67400927 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:67498602-67499102 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67533977-67534506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:67534507-67535036 Neighboring gene uncharacterized LOC105370538 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8575 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36177 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:67634697-67635896 Neighboring gene Sharpr-MPRA regulatory region 5377 Neighboring gene uncharacterized LOC124903330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5855 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:67723162-67723330 Neighboring gene MPRA-validated peak2181 silencer Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:67825632-67826418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8578 Neighboring gene protein associated with LIN7 1, MAGUK p55 family member Neighboring gene ATPase H+ transporting V1 subunit D

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. Next-generation sequencing reveals novel rare fusion events with functional implication in prostate cancer. Teles Alves I, et al. Oncogene, 2015 Jan 29. PMID 24488012
  2. The expression characteristics of FAM71D and its association with sperm motility. Ma Q, et al. Hum Reprod, 2017 Nov 1. PMID 29025071
  3. Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity. Fukuda M, et al. Mol Cell Proteomics, 2008 Jun. PMID 18256213
  4. The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets. Katsogiannou M, et al. Mol Cell Proteomics, 2014 Dec. PMID 25277244, Free PMC Article
  5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deleterious variant in FAM71D cause male infertility with asthenoteratospermia.
    Title: Deleterious variant in FAM71D cause male infertility with asthenoteratospermia.
  2. FAM71D is dispensable for spermatogenesis and male fertility in mice.
    Title: FAM71D is dispensable for spermatogenesis and male fertility in mice.
  3. Our results showed that FAM71D was exclusively expressed in the testis in an age-dependent manner. FAM71D expression exhibited dynamic change in the cytoplasm of spermatids during spermiogenesis and was finally retained in sperm flagella. FAM71D could interact with calmodulin.
    Title: The expression characteristics of FAM71D and its association with sperm motility.
  4. The unique in-frame MPP5-FAM71D fusion product is important for proliferation of PC346C cells.
    Title: Next-generation sequencing reveals novel rare fusion events with functional implication in prostate cancer.
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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Markers

Homology

Clone Names

  • FLJ36130

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in sperm midpiece ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
Golgi-associated RAB2 interactor protein 2
Names
Golgi associated RAB2 interactor protein 2
family with sequence similarity 71 member D
protein FAM71D

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_001395907.1 → NP_001382836.1  Golgi-associated RAB2 interactor protein 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL135978
    Consensus CDS
    CCDS91889.1
    UniProtKB/TrEMBL
    A0A8V8TKH0, A0A8V8TKJ2
    Related
    ENSP00000512992.1, ENST00000696955.1

  2. NM_173526.4 → NP_775797.2  Golgi-associated RAB2 interactor protein 2 isoform 2

    See identical proteins and their annotated locations for NP_775797.2

    Status: VALIDATED

    Source sequence(s)
    AK093449, AL135978, BC050401
    Consensus CDS
    CCDS9778.1
    UniProtKB/Swiss-Prot
    Q86VN4, Q8N9W8
    UniProtKB/TrEMBL
    A0A8V8TLY9
    Related
    ENSP00000483154.1, ENST00000612183.4
    Conserved Domains (1) summary
    pfam12480
    Location:112 → 185
    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    67189440..67228558
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431033.1 → XP_047286989.1  Golgi-associated RAB2 interactor protein 2 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TKJ2

  2. XM_011536500.2 → XP_011534802.1  Golgi-associated RAB2 interactor protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011534802.1

    UniProtKB/Swiss-Prot
    Q86VN4, Q8N9W8
    UniProtKB/TrEMBL
    A0A8V8TLY9
    Conserved Domains (1) summary
    pfam12480
    Location:112 → 185
    DUF3699; Protein of unknown function (DUF3699)

  3. XM_047431034.1 → XP_047286990.1  Golgi-associated RAB2 interactor protein 2 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TKJ2

  4. XM_011536503.3 → XP_011534805.1  Golgi-associated RAB2 interactor protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011534805.1

    UniProtKB/Swiss-Prot
    Q86VN4, Q8N9W8
    UniProtKB/TrEMBL
    A0A8V8TLY9
    Related
    ENSP00000512998.1, ENST00000696961.1
    Conserved Domains (1) summary
    pfam12480
    Location:112 → 185
    DUF3699; Protein of unknown function (DUF3699)

  5. XM_047431031.1 → XP_047286987.1  Golgi-associated RAB2 interactor protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q86VN4, Q8N9W8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    61396563..61435683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054375492.1 → XP_054231467.1  Golgi-associated RAB2 interactor protein 2 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TKJ2

  2. XM_054375493.1 → XP_054231468.1  Golgi-associated RAB2 interactor protein 2 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TKJ2

  3. XM_054375491.1 → XP_054231466.1  Golgi-associated RAB2 interactor protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q86VN4, Q8N9W8

  4. XM_054375489.1 → XP_054231464.1  Golgi-associated RAB2 interactor protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q86VN4, Q8N9W8

  5. XM_054375490.1 → XP_054231465.1  Golgi-associated RAB2 interactor protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q86VN4, Q8N9W8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N9W8.2 GenPept UniProtKB/Swiss-Prot:Q8N9W8

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