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    FSIP2 fibrous sheath interacting protein 2 [ Homo sapiens (human) ]

    Gene ID: 401024, updated on 28-Oct-2024

    Summary

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    Official Symbol
    FSIP2provided by HGNC
    Official Full Name
    fibrous sheath interacting protein 2provided by HGNC
    Primary source
    HGNC:HGNC:21675
    See related
    Ensembl:ENSG00000188738 MIM:615796; AllianceGenome:HGNC:21675
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPGF34
    Summary
    This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016]
    Expression
    Biased expression in testis (RPKM 4.0), stomach (RPKM 1.4) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FSIP2 in Genome Data Viewer
    Location:
    2q32.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (185737134..185833290)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (186226199..186322363)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (186603531..186698017)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:186432447-186433646 Neighboring gene ELF2 pseudogene 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:186448047-186448622 Neighboring gene U8 small nucleolar RNA Neighboring gene FSIP2 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12166 Neighboring gene FSIP2 antisense RNA 1 Neighboring gene fibrous sheath interacting protein 2 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:186711714-186712223 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:186729029-186729738 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:186729739-186730447 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:186739935-186740880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:186740881-186741824 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:186781480-186781581 Neighboring gene MPRA-validated peak3973 silencer Neighboring gene ribosomal protein L21 pseudogene 32

    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 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. FSIP2 plays a role in the acrosome development during spermiogenesis. Zheng R, et al. J Med Genet, 2023 Mar. PMID 35654582
    2. Novel mutations in FSIP2 lead to multiple morphological abnormalities of the sperm flagella and poor ICSI prognosis. Liu M, et al. Gene, 2021 May 20. PMID 33631238
    3. FSIP2 can serve as a predictive biomarker for Clear Cell Renal Cell Carcinoma prognosis. Zhang Y, et al. Int J Med Sci, 2020. PMID 33162809, Free PMC Article
    4. Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours. Litchfield K, et al. Nat Commun, 2015 Jan 22. PMID 25609015, Free PMC Article
    5. Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms. Wang KS, et al. J Neural Transm (Vienna), 2012 Apr. PMID 22072270

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FSIP2 plays a role in the acrosome development during spermiogenesis.
      Title: FSIP2 plays a role in the acrosome development during spermiogenesis.
    2. FSIP2 can serve as a predictive biomarker for Clear Cell Renal Cell Carcinoma prognosis.
      Title: FSIP2 can serve as a predictive biomarker for Clear Cell Renal Cell Carcinoma prognosis.
    3. Novel mutations in FSIP2 lead to multiple morphological abnormalities of the sperm flagella and poor ICSI prognosis.
      Title: Novel mutations in FSIP2 lead to multiple morphological abnormalities of the sperm flagella and poor ICSI prognosis.
    4. Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia
      Title: Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Associated conditions

    Description Tests
    Spermatogenic failure 34
    MedGen: C4748403 OMIM: 618153 GeneReviews: Not available
    		Compare labs

    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

    • FLJ34780, FLJ44048, FLJ44063, FLJ44101, FLJ44116, DKFZp781I24108

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within_positive_effect flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within_positive_effect sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in sperm end piece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm head-tail coupling apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm midpiece IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm principal piece IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    fibrous sheath-interacting protein 2

    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.

    Genomic

    1. NG_051365.1 RefSeqGene

      Range
      4910..99396
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173651.4 → NP_775922.3  fibrous sheath-interacting protein 2

      Status: REVIEWED

      Source sequence(s)
      AC007966, AC008174
      Consensus CDS
      CCDS54426.2
      UniProtKB/Swiss-Prot
      Q53TL3, Q53TN5, Q5CZC0, Q5HYH2, Q6ZTZ5, Q6ZU14, Q6ZU21
      Related
      ENSP00000401306.1, ENST00000424728.6
      Conserved Domains (2) summary
      pfam05672
      Location:213 → 307
      MAP7; MAP7 (E-MAP-115) family
      pfam15783
      Location:5901 → 6774
      FSIP2; Fibrous sheath-interacting protein 2

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      185737134..185833290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444333.1 → XP_047300289.1  fibrous sheath-interacting protein 2 isoform X3

    2. XM_047444329.1 → XP_047300285.1  fibrous sheath-interacting protein 2 isoform X1

    3. XM_047444331.1 → XP_047300287.1  fibrous sheath-interacting protein 2 isoform X2

    4. XM_047444336.1 → XP_047300292.1  fibrous sheath-interacting protein 2 isoform X5

    5. XM_047444335.1 → XP_047300291.1  fibrous sheath-interacting protein 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      186226199..186322363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342036.1 → XP_054198011.1  fibrous sheath-interacting protein 2 isoform X3

    2. XM_054342035.1 → XP_054198010.1  fibrous sheath-interacting protein 2 isoform X1

    3. XM_054342038.1 → XP_054198013.1  fibrous sheath-interacting protein 2 isoform X4

    4. XM_054342037.1 → XP_054198012.1  fibrous sheath-interacting protein 2 isoform X2

    5. XM_054342039.1 → XP_054198014.1  fibrous sheath-interacting protein 2 isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_207482.2: Suppressed sequence

      Description
      NM_207482.2: This RefSeq was permanently suppressed because the CDS was partial.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5CZC0.4 GenPept UniProtKB/Swiss-Prot:Q5CZC0

    Gene LinkOut

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

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