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SPEF2 sperm flagellar 2 [ Homo sapiens (human) ]

Gene ID: 79925, updated on 17-Jun-2019

Summary

Official Symbol
SPEF2provided by HGNC
Official Full Name
sperm flagellar 2provided by HGNC
Primary source
HGNC:HGNC:26293
See related
Ensembl:ENSG00000152582 MIM:610172
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
KPL2; CT122
Expression
Broad expression in endometrium (RPKM 2.4), testis (RPKM 2.1) and 24 other tissues See more
Orthologs

Genomic context

See SPEF2 in Genome Data Viewer
Location:
5p13.2
Exon count:
45
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (35617367..35814611)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (35617900..35814713)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene alanine--glyoxylate aminotransferase 2 Neighboring gene prolactin receptor Neighboring gene RNA, U7 small nuclear 130 pseudogene Neighboring gene uncharacterized LOC105374724 Neighboring gene Sharpr-MPRA regulatory region 7574 Neighboring gene interleukin 7 receptor Neighboring gene calcyphosine like

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23164, FLJ23577, FLJ25395, KIAA1770, MGC102842

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sperm flagellar protein 2
Names
cancer/testis antigen 122
testis tissue sperm-binding protein Li 47a

NCBI Reference Sequences (RefSeq)

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_024867.4NP_079143.3  sperm flagellar protein 2 isoform 1

    See identical proteins and their annotated locations for NP_079143.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB051557, AC025448, AK097547, AL832607, BC016773, BC067761, BC110984, BX648691, DA295300
    Consensus CDS
    CCDS43309.1
    UniProtKB/Swiss-Prot
    Q9C093
    UniProtKB/TrEMBL
    A0A140VKD0
    Related
    ENSP00000348314.3, ENST00000356031.8
    Conserved Domains (2) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:686868
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  2. NM_144722.4NP_653323.1  sperm flagellar protein 2 isoform 2

    See identical proteins and their annotated locations for NP_653323.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks more than half of the 3'-most exons and has a 3' end that extends into an intron compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC025448, AK058124, BC016773
    Consensus CDS
    CCDS3910.1
    UniProtKB/Swiss-Prot
    Q9C093
    Related
    ENSP00000282469.6, ENST00000282469.10
    Conserved Domains (1) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    35617367..35814611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446219.1XP_024301987.1  sperm flagellar protein 2 isoform X13

    Conserved Domains (2) summary
    pfam06294
    Location:897
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:629811
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  2. XM_017009881.2XP_016865370.1  sperm flagellar protein 2 isoform X8

    Conserved Domains (1) summary
    cl17190
    Location:544726
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  3. XM_011514141.3XP_011512443.1  sperm flagellar protein 2 isoform X8

    Conserved Domains (1) summary
    cl17190
    Location:544726
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  4. XM_017009880.2XP_016865369.1  sperm flagellar protein 2 isoform X7

  5. XM_011514140.2XP_011512442.1  sperm flagellar protein 2 isoform X6

    Conserved Domains (2) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:629811
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  6. XM_011514136.3XP_011512438.1  sperm flagellar protein 2 isoform X2

    Conserved Domains (2) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:686868
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  7. XM_011514135.3XP_011512437.1  sperm flagellar protein 2 isoform X1

    Conserved Domains (2) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:686868
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  8. XM_005248376.4XP_005248433.1  sperm flagellar protein 2 isoform X9

    Conserved Domains (2) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:686868
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  9. XM_011514138.3XP_011512440.1  sperm flagellar protein 2 isoform X4

    Conserved Domains (2) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:686868
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  10. XM_011514139.3XP_011512441.1  sperm flagellar protein 2 isoform X5

    Conserved Domains (2) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:686868
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  11. XM_011514137.3XP_011512439.1  sperm flagellar protein 2 isoform X3

    Conserved Domains (2) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:681863
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  12. XM_005248377.4XP_005248434.1  sperm flagellar protein 2 isoform X10

    UniProtKB/Swiss-Prot
    Q9C093
    Related
    ENSP00000412125.2, ENST00000440995.6
    Conserved Domains (2) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:681863
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...
  13. XM_017009882.2XP_016865371.1  sperm flagellar protein 2 isoform X11

  14. XM_005248378.4XP_005248435.1  sperm flagellar protein 2 isoform X12

    Related
    ENSP00000421593.1, ENST00000509059.5
    Conserved Domains (2) summary
    pfam06294
    Location:697
    CH_2; CH-like domain in sperm protein
    cl17190
    Location:686868
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

RNA

  1. XR_925656.3 RNA Sequence

  2. XR_925655.2 RNA Sequence

  3. XR_001742273.2 RNA Sequence

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