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    SPMAP2L sperm microtubule associated protein 2 like [ Homo sapiens (human) ]

    Gene ID: 100506564, updated on 17-Sep-2024

    Summary

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    Official Symbol
    SPMAP2Lprovided by HGNC
    Official Full Name
    sperm microtubule associated protein 2 likeprovided by HGNC
    Primary source
    HGNC:HGNC:43771
    See related
    Ensembl:ENSG00000249693 AllianceGenome:HGNC:43771
    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
    THEGL
    Expression
    Biased expression in testis (RPKM 1.0) and skin (RPKM 0.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See SPMAP2L in Genome Data Viewer
    Location:
    4q12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (56530606..56626214)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (60018614..60114234)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (57396772..57469673)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21580 Neighboring gene signal recognition particle 72 Neighboring gene uncharacterized LOC105377665 Neighboring gene ARF like GTPase 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:57397246-57397779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15451 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:57424181-57424393 Neighboring gene NANOG hESC enhancer GRCh37_chr4:57472386-57472887 Neighboring gene glycine decarboxylase pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15452 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:57501823-57502323 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:57506917-57508116 Neighboring gene uncharacterized LOC124900708 Neighboring gene hESC enhancers GRCh37_chr4:57528805-57529620 and GRCh37_chr4:57529621-57530435 Neighboring gene HOP homeobox Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15453 Neighboring gene uncharacterized LOC105377666 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:57559757-57560564

    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. CHK2-BRCA1 tumor-suppressor axis restrains oncogenic Aurora-A kinase to ensure proper mitotic microtubule assembly. Ertych N, et al. Proc Natl Acad Sci U S A, 2016 Feb 16. PMID 26831064, Free PMC Article
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    General protein information

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    Preferred Names
    sperm microtubule associated protein 2-like
    Names
    testicular haploid expressed gene protein-like
    theg spermatid protein like
    theg spermatid-like 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_001256475.2 → NP_001243404.1  sperm microtubule associated protein 2-like

      See identical proteins and their annotated locations for NP_001243404.1

      Status: VALIDATED

      Source sequence(s)
      AC108215, DB450279, DW009623, DY655427, DY655539
      Consensus CDS
      CCDS58899.1
      UniProtKB/Swiss-Prot
      P0DJG4
      Related
      ENSP00000456850.1, ENST00000512175.3
      Conserved Domains (1) summary
      pfam14912
      Location:404 → 462
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      56530606..56626214
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534357.2 → XP_011532659.1  sperm microtubule associated protein 2-like isoform X1

      Conserved Domains (1) summary
      pfam14912
      Location:210 → 277
      THEG; Testicular haploid expressed repeat

    2. XM_011534361.3 → XP_011532663.1  sperm microtubule associated protein 2-like isoform X2

      Conserved Domains (1) summary
      pfam14912
      Location:210 → 277
      THEG; Testicular haploid expressed repeat

    3. XM_011534363.3 → XP_011532665.1  sperm microtubule associated protein 2-like isoform X3

      Conserved Domains (1) summary
      pfam14912
      Location:210 → 277
      THEG; Testicular haploid expressed repeat

    4. XM_011534364.2 → XP_011532666.1  sperm microtubule associated protein 2-like isoform X4

      Conserved Domains (1) summary
      pfam14912
      Location:210 → 277
      THEG; Testicular haploid expressed repeat

    5. XM_011534365.3 → XP_011532667.1  sperm microtubule associated protein 2-like isoform X5

      Conserved Domains (1) summary
      pfam14912
      Location:210 → 277
      THEG; Testicular haploid expressed repeat

    RNA

    1. XR_941041.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      60018614..60114234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348689.1 → XP_054204664.1  sperm microtubule associated protein 2-like isoform X1

    2. XM_054348690.1 → XP_054204665.1  sperm microtubule associated protein 2-like isoform X2

    3. XM_054348691.1 → XP_054204666.1  sperm microtubule associated protein 2-like isoform X3

    4. XM_054348692.1 → XP_054204667.1  sperm microtubule associated protein 2-like isoform X4

    5. XM_054348693.1 → XP_054204668.1  sperm microtubule associated protein 2-like isoform X5

    RNA

    1. XR_008486887.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DJG4.1 GenPept UniProtKB/Swiss-Prot:P0DJG4

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