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SIPA1L2 signal induced proliferation associated 1 like 2 [ Homo sapiens (human) ]

Gene ID: 57568, updated on 26-Oct-2022

Summary

Official Symbol
SIPA1L2provided by HGNC
Official Full Name
signal induced proliferation associated 1 like 2provided by HGNC
Primary source
HGNC:HGNC:23800
See related
Ensembl:ENSG00000116991 MIM:611609; AllianceGenome:HGNC:23800
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
SPAL2; SPAR2
Summary
This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]
Expression
Ubiquitous expression in heart (RPKM 11.7), placenta (RPKM 10.4) and 24 other tissues See more
Orthologs
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Genomic context

See SIPA1L2 in Genome Data Viewer
Location:
1q42.2
Exon count:
26
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (232397965..232630496, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (231783662..232016327, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (232533711..232766242, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373196 Neighboring gene uncharacterized LOC105373198 Neighboring gene Sharpr-MPRA regulatory region 1023 Neighboring gene uncharacterized LOC124904551 Neighboring gene RNA, U6 small nuclear 1211, pseudogene

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.
EBI GWAS Catalog
Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
EBI GWAS Catalog
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
EBI GWAS Catalog
Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
EBI GWAS Catalog
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23126, FLJ23632, KIAA1389

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in biological_process ND
No biological Data available
more info
 
involved_in regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
signal-induced proliferation-associated 1-like protein 2
Names
SIPA1-like protein 2
SPA-1-like 2
spine-associated RapGAP 2

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001377488.1NP_001364417.1  signal-induced proliferation-associated 1-like protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL157409, AL355274, AL356965
    Consensus CDS
    CCDS91174.1
    UniProtKB/TrEMBL
    A0A6Q8PH54
    Related
    ENSP00000501553.1, ENST00000675685.1
    Conserved Domains (3) summary
    cd00992
    Location:9501020
    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) ...
    pfam02145
    Location:625805
    Rap_GAP; Rap/ran-GAP
    pfam11881
    Location:14231648
    SPAR_C; C-terminal domain of SPAR protein
  2. NM_020808.5NP_065859.3  signal-induced proliferation-associated 1-like protein 2 isoform 1

    See identical proteins and their annotated locations for NP_065859.3

    Status: REVIEWED

    Source sequence(s)
    AL157409, AL355274, AL356965
    Consensus CDS
    CCDS41474.1
    UniProtKB/Swiss-Prot
    Q9H9F6, Q9P2F8
    Related
    ENSP00000502693.1, ENST00000674635.1
    Conserved Domains (3) summary
    cd00992
    Location:9501020
    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) ...
    pfam02145
    Location:625805
    Rap_GAP; Rap/ran-GAP
    pfam11881
    Location:14231666
    SPAR_C; C-terminal domain of SPAR protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    232397965..232630496 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001896.2XP_016857385.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9H9F6, Q9P2F8
    Related
    ENSP00000501897.1, ENST00000676213.1
    Conserved Domains (3) summary
    cd00992
    Location:9501020
    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) ...
    pfam02145
    Location:625805
    Rap_GAP; Rap/ran-GAP
    pfam11881
    Location:14231666
    SPAR_C; C-terminal domain of SPAR protein
  2. XM_047426142.1XP_047282098.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9H9F6
  3. XM_005273213.5XP_005273270.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005273270.1

    UniProtKB/Swiss-Prot
    Q9H9F6, Q9P2F8
    Related
    ENSP00000355589.1, ENST00000366630.5
    Conserved Domains (3) summary
    cd00992
    Location:9501020
    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) ...
    pfam02145
    Location:625805
    Rap_GAP; Rap/ran-GAP
    pfam11881
    Location:14231666
    SPAR_C; C-terminal domain of SPAR protein
  4. XM_047426141.1XP_047282097.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9H9F6
  5. XM_047426144.1XP_047282100.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9H9F6
  6. XM_047426140.1XP_047282096.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9H9F6
  7. XM_047426143.1XP_047282099.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9H9F6
  8. XM_047426139.1XP_047282095.1  signal-induced proliferation-associated 1-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9H9F6
  9. XM_047426145.1XP_047282101.1  signal-induced proliferation-associated 1-like protein 2 isoform X2

    UniProtKB/TrEMBL
    A0A6Q8PH54
    Related
    ENSP00000502580.1, ENST00000675407.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    231783662..232016327 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)