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

Gene ID: 51298, updated on 2-Nov-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)

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

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