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    SPMAP2 sperm microtubule associated protein 2 [ Homo sapiens (human) ]

    Gene ID: 51298, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SPMAP2provided by HGNC
    Official Full Name
    sperm microtubule associated protein 2provided by HGNC
    Primary source
    HGNC:HGNC:13706
    See related
    Ensembl:ENSG00000105549 MIM:609503; AllianceGenome:HGNC:13706
    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
    CT56; THEG; THEG1
    Summary
    This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Restricted expression toward testis (RPKM 7.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See SPMAP2 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (361747..376026, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (310606..324885, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (361747..376026, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904605 Neighboring gene MPRA-validated peak3203 silencer Neighboring gene MIER family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:327661-328161 Neighboring gene MPRA-validated peak3205 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:341127-341714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:342901-343852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9599 Neighboring gene MPRA-validated peak3207 silencer Neighboring gene MPRA-validated peak3208 silencer Neighboring gene uncharacterized LOC124904606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:383808-384334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:384335-384861 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:386621-387186 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:387187-387751 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:387752-388316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:388882-389447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:389448-390012 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:397986-399185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:406130-407009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:407010-407890 Neighboring gene C2 calcium dependent domain containing 4C

    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. Male mice lacking the Theg (testicular haploid expressed gene) protein undergo normal spermatogenesis and are fertile. Mannan AU, et al. Biol Reprod, 2003 Sep. PMID 12748127
    2. Alternative splicing, chromosome assignment and subcellular localization of the testicular haploid expressed gene (THEG). Mannan A, et al. Cytogenet Cell Genet, 2000. PMID 11173852
    3. Insertional mutation of the murine kisimo locus caused a defect in spermatogenesis. Yanaka N, et al. J Biol Chem, 2000 May 19. PMID 10747865
    4. Structural specializations of the sperm tail. Leung MR, et al. Cell, 2023 Jun 22. PMID 37327785, Free PMC Article
    5. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Functional analysis of the mouse counterpart.
      Title: Insertional mutation of the murine kisimo locus caused a defect in spermatogenesis.
    2. Functional analysis of the mouse counterpart.
      Title: Male mice lacking the Theg (testicular haploid expressed gene) protein undergo normal spermatogenesis and are fertile.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC26138

    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 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chaperone-mediated protein complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sperm microtubule associated protein 2
    Names
    Theg homolog
    cancer/testis antigen 56
    testicular haploid expressed gene protein
    testis-specific
    theg spermatid protein

    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_016585.5 → NP_057669.1  sperm microtubule associated protein 2 isoform 1

      See identical proteins and their annotated locations for NP_057669.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as THEG major) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB033129, AC016588, AF268610
      Consensus CDS
      CCDS12025.1
      UniProtKB/Swiss-Prot
      A6NMJ8, Q9P2T0
      Related
      ENSP00000340088.3, ENST00000342640.9
      Conserved Domains (1) summary
      pfam14912
      Location:217 → 275
      THEG; Testicular haploid expressed repeat

    2. NM_199202.3 → NP_954672.1  sperm microtubule associated protein 2 isoform 2

      See identical proteins and their annotated locations for NP_954672.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as THEG minor) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB033129, AC016588, AF268610, DR731298
      Consensus CDS
      CCDS12026.1
      UniProtKB/Swiss-Prot
      Q9P2T0
      Related
      ENSP00000264820.3, ENST00000346878.3
      Conserved Domains (1) summary
      pfam14912
      Location:193 → 251
      THEG; Testicular haploid expressed repeat

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      361747..376026 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451533.2 → XP_024307301.2  sperm microtubule associated protein 2 isoform X5

    2. XM_024451532.2 → XP_024307300.2  sperm microtubule associated protein 2 isoform X4

    3. XM_011528051.3 → XP_011526353.2  sperm microtubule associated protein 2 isoform X3

    4. XM_011528050.3 → XP_011526352.2  sperm microtubule associated protein 2 isoform X2

    5. XM_011528049.3 → XP_011526351.2  sperm microtubule associated protein 2 isoform X1

    6. XM_011528052.3 → XP_011526354.2  sperm microtubule associated protein 2 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      310606..324885 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321173.1 → XP_054177148.1  sperm microtubule associated protein 2 isoform X5

    2. XM_054321172.1 → XP_054177147.1  sperm microtubule associated protein 2 isoform X4

    3. XM_054321171.1 → XP_054177146.1  sperm microtubule associated protein 2 isoform X3

    4. XM_054321170.1 → XP_054177145.1  sperm microtubule associated protein 2 isoform X2

    5. XM_054321169.1 → XP_054177144.1  sperm microtubule associated protein 2 isoform X1

    6. XM_054321174.1 → XP_054177149.1  sperm microtubule associated protein 2 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2T0.1 GenPept UniProtKB/Swiss-Prot:Q9P2T0

    Gene LinkOut

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