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SYNPO2L synaptopodin 2 like [ Homo sapiens (human) ]

Gene ID: 79933, updated on 11-Jun-2021

Summary

Official Symbol
SYNPO2Lprovided by HGNC
Official Full Name
synaptopodin 2 likeprovided by HGNC
Primary source
HGNC:HGNC:23532
See related
Ensembl:ENSG00000166317
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
Expression
Restricted expression toward heart (RPKM 82.2) See more
Orthologs
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Genomic context

See SYNPO2L in Genome Data Viewer
Location:
10q22.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (73644881..73656029, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75404644..75415787, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 54 Neighboring gene ribosomal protein S26 pseudogene 41 Neighboring gene myozenin 1 Neighboring gene SYNPO2L antisense RNA 1 Neighboring gene BMS1P4-AGAP5 readthrough Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 Neighboring gene RNA, 5S ribosomal pseudogene 320 Neighboring gene BMS1 pseudogene 4

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

Phenotypes

Associated conditions

Description Tests
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12921

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of Rho protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in positive regulation of actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of stress fiber assembly ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in sarcomere organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Z disc ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
synaptopodin 2-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_001114133.3NP_001107605.1  synaptopodin 2-like protein isoform a

    See identical proteins and their annotated locations for NP_001107605.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB188489, AK022983
    Consensus CDS
    CCDS44438.1
    UniProtKB/Swiss-Prot
    Q9H987
    Related
    ENSP00000378289.2, ENST00000394810.3
    Conserved Domains (1) summary
    cd00992
    Location:685
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  2. NM_024875.5NP_079151.2  synaptopodin 2-like protein isoform b

    See identical proteins and their annotated locations for NP_079151.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon resulting in different 5' UTR and 5' coding regions, compared to variant 1. It encodes isoform b, which is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AB188489, AC073389, AK022983, BC142635, DA685385
    Consensus CDS
    CCDS7331.1
    UniProtKB/Swiss-Prot
    Q9H987
    UniProtKB/TrEMBL
    A0A024QZQ8
    Related
    ENSP00000361964.4, ENST00000372873.8
    Conserved Domains (1) summary
    cl26247
    Location:191326
    DNA_pol3_delta2; DNA polymerase III, delta subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    73644881..73656029 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270158.2XP_005270215.1  synaptopodin 2-like protein isoform X1

    See identical proteins and their annotated locations for XP_005270215.1

    Conserved Domains (1) summary
    PRK14954
    Location:119254
    PRK14954; DNA polymerase III subunits gamma and tau; Provisional
  2. XM_005270159.3XP_005270216.1  synaptopodin 2-like protein isoform X1

    See identical proteins and their annotated locations for XP_005270216.1

    Conserved Domains (1) summary
    PRK14954
    Location:119254
    PRK14954; DNA polymerase III subunits gamma and tau; Provisional
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