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    SPATA22 spermatogenesis associated 22 [ Homo sapiens (human) ]

    Gene ID: 84690, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SPATA22provided by HGNC
    Official Full Name
    spermatogenesis associated 22provided by HGNC
    Primary source
    HGNC:HGNC:30705
    See related
    Ensembl:ENSG00000141255 MIM:617673; AllianceGenome:HGNC:30705
    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
    POF25; SPGF96; NYDSP20; NYD-SP20
    Summary
    Predicted to be involved in regulation of meiotic cell cycle. Predicted to act upstream of or within several processes, including fertilization; gamete generation; and meiosis I cell cycle process. Predicted to be located in chromosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 73.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See SPATA22 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3440019..3513858, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3328922..3402768, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3343313..3417152, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 3 subfamily A member 3 Neighboring gene olfactory receptor family 1 subfamily E member 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:3386038-3386583 Neighboring gene aspartoacylase Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:3413293-3413831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3427509-3428008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3430899-3431819 Neighboring gene transient receptor potential cation channel subfamily V member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3457379-3457880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8013 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr17:3461306-3462122 and GRCh37_chr17:3462123-3462937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11510 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3466934-3467732 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:3478292-3479491 Neighboring gene transient receptor potential cation channel subfamily V member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3497604-3498104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3512595-3513096 Neighboring gene pterin-4 alpha-carbinolamine dehydratase 2 pseudogene Neighboring gene sedoheptulokinase

    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. Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest. Yao C, et al. Clin Genet, 2022 May. PMID 35285020
    2. Novel development-related alternative splices in human testis identified by cDNA microarrays. Huang X, et al. J Androl, 2005 Mar-Apr. PMID 15713825
    3. Nuclear localization of human MEIOB requires its NLS in the OB domain and interaction with SPATA22. Xu Y, et al. Acta Biochim Biophys Sin (Shanghai), 2022 Nov 25. PMID 36331299, Free PMC Article
    4. Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB. Wu Y, et al. Hum Reprod, 2021 Sep 18. PMID 34392356
    5. The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex. Ribeiro J, et al. DNA Repair (Amst), 2021 Jun. PMID 33812231

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nuclear localization of human MEIOB requires its NLS in the OB domain and interaction with SPATA22.
      Title: Nuclear localization of human MEIOB requires its NLS in the OB domain and interaction with SPATA22.
    2. Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest.
      Title: Bi-allelic SPATA22 variants cause premature ovarian insufficiency and nonobstructive azoospermia due to meiotic arrest.
    3. Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.
      Title: Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB.
    4. The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex.
      Title: The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex.
    5. Data indicate that the positive expression of studied genes fertilization rate for GAPDHS positive subset was 66%, ACR - 71%, SPATA22 - 68%, MND1 - 70%, pregnancy rates were 8%, 6%, 18% and 36% respectively.
      Title: Expression analysis of MND1/GAJ, SPATA22, GAPDHS and ACR genes in testicular biopsies from non-obstructive azoospermia (NOA) patients.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homologous chromosome pairing at meiosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in meiotic DNA repair synthesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of meiotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in reproductive system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatocyte division IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    spermatogenesis-associated protein 22
    Names
    testicular tissue protein Li 186
    testis development protein NYD-SP20

    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_001170695.2 → NP_001164166.1  spermatogenesis-associated protein 22 isoform 2

      See identical proteins and their annotated locations for NP_001164166.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and contains an alternate exon which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC025125, BC029483, BG716998
      Consensus CDS
      CCDS11027.1
      UniProtKB/Swiss-Prot
      B4DXB1, D3DTI9, J3KN63, Q8NHS9, Q969H3, Q96JT4
      UniProtKB/TrEMBL
      A0A140VJV9, B4DHW8
      Related
      ENSP00000459329.1, ENST00000575375.5

    2. NM_001170696.2 → NP_001164167.1  spermatogenesis-associated protein 22 isoform 3

      See identical proteins and their annotated locations for NP_001164167.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform 3) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AC025125, AY032684, BG716998
      Consensus CDS
      CCDS54066.1
      UniProtKB/TrEMBL
      B4DHW8
      Related
      ENSP00000347541.4, ENST00000355380.8

    3. NM_001170697.2 → NP_001164168.1  spermatogenesis-associated protein 22 isoform 2

      See identical proteins and their annotated locations for NP_001164168.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and contains an alternate exon which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC025125, AF367472, BP371122
      Consensus CDS
      CCDS11027.1
      UniProtKB/Swiss-Prot
      B4DXB1, D3DTI9, J3KN63, Q8NHS9, Q969H3, Q96JT4
      UniProtKB/TrEMBL
      A0A140VJV9, B4DHW8
      Related
      ENSP00000459580.1, ENST00000573128.5

    4. NM_001170698.2 → NP_001164169.1  spermatogenesis-associated protein 22 isoform 2

      See identical proteins and their annotated locations for NP_001164169.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate exon which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC025125, AY035867, BI463957
      Consensus CDS
      CCDS11027.1
      UniProtKB/Swiss-Prot
      B4DXB1, D3DTI9, J3KN63, Q8NHS9, Q969H3, Q96JT4
      UniProtKB/TrEMBL
      A0A140VJV9, B4DHW8
      Related
      ENSP00000460187.1, ENST00000572969.6

    5. NM_001170699.2 → NP_001164170.1  spermatogenesis-associated protein 22 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the shortest isoform (1).
      Source sequence(s)
      AC025125, AK301892, BC029483, DB450733
      Consensus CDS
      CCDS54067.1
      UniProtKB/Swiss-Prot
      Q8NHS9
      Related
      ENSP00000268981.5, ENST00000268981.9

    6. NM_001321336.2 → NP_001308265.1  spermatogenesis-associated protein 22 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC025125, AK295299, AY035868, BC029483
      Consensus CDS
      CCDS82036.1
      UniProtKB/TrEMBL
      B4DHW8, F5GWB9
      Related
      ENSP00000441920.1, ENST00000541913.5

    7. NM_001321337.2 → NP_001308266.1  spermatogenesis-associated protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC025125, AK295299, AY035868, BC029483
      Consensus CDS
      CCDS11027.1
      UniProtKB/Swiss-Prot
      B4DXB1, D3DTI9, J3KN63, Q8NHS9, Q969H3, Q96JT4
      UniProtKB/TrEMBL
      A0A140VJV9, B4DHW8

    8. NM_032598.5 → NP_115987.2  spermatogenesis-associated protein 22 isoform 2

      See identical proteins and their annotated locations for NP_115987.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate exon which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC025125, AY035868
      Consensus CDS
      CCDS11027.1
      UniProtKB/Swiss-Prot
      B4DXB1, D3DTI9, J3KN63, Q8NHS9, Q969H3, Q96JT4
      UniProtKB/TrEMBL
      A0A140VJV9, B4DHW8
      Related
      ENSP00000380354.3, ENST00000397168.7

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      3440019..3513858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      3328922..3402768 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHS9.2 GenPept UniProtKB/Swiss-Prot:Q8NHS9

    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