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

Gene ID: 401024, updated on 7-Apr-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
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Genomic context

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Location:
2q32.1
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (185737134..185833290)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (186226199..186322363)
105.20220307 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
  • 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 (24) 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
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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 connecting piece IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sperm end piece 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_2023_10

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

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