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    SPMIP2 sperm microtubule inner protein 2 [ Homo sapiens (human) ]

    Gene ID: 152940, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPMIP2provided by HGNC
    Official Full Name
    sperm microtubule inner protein 2provided by HGNC
    Primary source
    HGNC:HGNC:26342
    See related
    Ensembl:ENSG00000164123 AllianceGenome:HGNC:26342
    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
    C4orf45
    Expression
    Restricted expression toward testis (RPKM 3.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See SPMIP2 in Genome Data Viewer
    Location:
    4q32.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (158893134..159082885, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (162243906..162433698, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (159814286..159956381, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene hESC enhancers GRCh37_chr4:159643958-159644541 and GRCh37_chr4:159644542-159645126 Neighboring gene electron transfer flavoprotein dehydrogenase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15773 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:159690086-159690823 Neighboring gene peptidylprolyl isomerase D Neighboring gene Sharpr-MPRA regulatory region 12747 Neighboring gene RNA, U6 small nuclear 128, pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:159766516-159767164 Neighboring gene folliculin interacting protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:159802306-159803286 Neighboring gene Sharpr-MPRA regulatory region 14183 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:159823055-159823920 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:159823921-159824786 Neighboring gene uncharacterized LOC124900178 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:159917411-159918610 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:159927373-159927905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22087 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22088 Neighboring gene proteasome activator subunit 2 pseudogene 3 Neighboring gene fatty acid binding protein 5 pseudogene 12 Neighboring gene Sharpr-MPRA regulatory region 3178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15775 Neighboring gene Sharpr-MPRA regulatory region 13777 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:160023381-160024072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15777 Neighboring gene Sharpr-MPRA regulatory region 8742 Neighboring gene Rap guanine nucleotide exchange factor 2 Neighboring gene microRNA 3688-1 Neighboring gene microRNA 3688-2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22091 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:160096538-160097270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22092 Neighboring gene Sharpr-MPRA regulatory region 9369 Neighboring gene Sharpr-MPRA regulatory region 10828 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:160304254-160304828 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:160304829-160305402 Neighboring gene MPRA-validated peak5139 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:160322475-160323674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15778 Neighboring gene uncharacterized LOC124900924

    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. Structural specializations of the sperm tail. Leung MR, et al. Cell, 2023 Jun 22. PMID 37327785, Free PMC Article
    2. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
    3. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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

    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

    • FLJ25371

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein SPMIP2
    Names
    sperm associated microtubule inner protein 2
    uncharacterized protein C4orf45

    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_152543.3 → NP_689756.2  protein SPMIP2

      See identical proteins and their annotated locations for NP_689756.2

      Status: VALIDATED

      Source sequence(s)
      AC093700, AC109823, BP369394, DB037602
      Consensus CDS
      CCDS47156.1
      UniProtKB/Swiss-Prot
      A8MPU3, C9J0T8, Q96LM5
      Related
      ENSP00000412215.2, ENST00000434826.3
      Conserved Domains (1) summary
      pfam15123
      Location:22 → 133
      DUF4562; Domain of unknown function (DUF4562)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      158893134..159082885 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531671.3 → XP_011529973.1  protein SPMIP2 isoform X2

      See identical proteins and their annotated locations for XP_011529973.1

      Conserved Domains (1) summary
      pfam15123
      Location:15 → 126
      DUF4562; Domain of unknown function (DUF4562)

    2. XM_011531672.4 → XP_011529974.1  protein SPMIP2 isoform X2

      See identical proteins and their annotated locations for XP_011529974.1

      Conserved Domains (1) summary
      pfam15123
      Location:15 → 126
      DUF4562; Domain of unknown function (DUF4562)

    3. XM_047449676.1 → XP_047305632.1  protein SPMIP2 isoform X1

      UniProtKB/Swiss-Prot
      A8MPU3, C9J0T8, Q96LM5

    4. XM_017007809.2 → XP_016863298.1  protein SPMIP2 isoform X1

      UniProtKB/Swiss-Prot
      A8MPU3, C9J0T8, Q96LM5
      Conserved Domains (1) summary
      pfam15123
      Location:22 → 133
      DUF4562; Domain of unknown function (DUF4562)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      162243906..162433698 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349053.1 → XP_054205028.1  protein SPMIP2 isoform X2

    2. XM_054349051.1 → XP_054205026.1  protein SPMIP2 isoform X1

    3. XM_054349054.1 → XP_054205029.1  protein SPMIP2 isoform X2

    4. XM_054349052.1 → XP_054205027.1  protein SPMIP2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LM5.3 GenPept UniProtKB/Swiss-Prot:Q96LM5

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