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

    Gene ID: 161142, updated on 27-Dec-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
    Summary
    Predicted to be involved in flagellated sperm motility. Predicted to act upstream of or within cell morphogenesis and vacuole organization. Predicted to be located in sperm midpiece. Predicted to be active in sperm head. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 6.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See GARIN2 in Genome Data Viewer
    Location:
    14q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (67189440..67228558)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (61396563..61435683)
    RS_2024_09 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: 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

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    Related articles in PubMed

    1. Deleterious variant in FAM71D cause male infertility with asthenoteratospermia. Zhu X, et al. Mol Genet Genomics, 2024 Mar 15. PMID 38489045
    2. FAM71D is dispensable for spermatogenesis and male fertility in mice. Mo S, et al. Mol Reprod Dev, 2023 Dec. PMID 37992210
    3. 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
    4. The expression characteristics of FAM71D and its association with sperm motility. Ma Q, et al. Hum Reprod, 2017 Nov 1. PMID 29025071
    5. Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity. Fukuda M, et al. Mol Cell Proteomics, 2008 Jun. PMID 18256213

    See all (14) 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)

    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_2024_08

    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
      A0A8V8TKH0, 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
      A0A8V8TKH0, 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
      UniProtKB/TrEMBL
      A0A8V8TLY9

    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
      A0A8V8TKH0, A0A8V8TKJ2

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

      UniProtKB/TrEMBL
      A0A8V8TKH0, A0A8V8TKJ2

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

      UniProtKB/Swiss-Prot
      Q86VN4, Q8N9W8
      UniProtKB/TrEMBL
      A0A8V8TLY9

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

      UniProtKB/Swiss-Prot
      Q86VN4, Q8N9W8
      UniProtKB/TrEMBL
      A0A8V8TLY9

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

      UniProtKB/Swiss-Prot
      Q86VN4, Q8N9W8
      UniProtKB/TrEMBL
      A0A8V8TLY9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9W8.2 GenPept UniProtKB/Swiss-Prot:Q8N9W8

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

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