SIPA1L2 - signal induced proliferation associated 1 like 2 Gene

Also Known as SPAL2; SPAR2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57568

About SIPA1L2

Cytogenetic location: 1q42.2 Genomic coordinates (GRCh38): 1:232,397,965-232,630,496 (from NCBI)

This gene has 11 transcripts (splice variants), 209 orthologues and 6 paralogues. Ubiquitous expression in heart (RPKM 11.7), placenta (RPKM 10.4) and 24 other tissues.

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]

SIPA1L2 Products (2)

mRNA Protein Name
NM_001377488.1 NP_001364417.1 signal-induced proliferation-associated 1-like protein 2 isoform 2
NM_020808.5 NP_065859.3 signal-induced proliferation-associated 1-like protein 2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SIPA1L2 Protein Structure

Rap_GAP

Rap_GAP: Rap/ran-GAP (624 - 812)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (951 - 1021)

SPAR_C

SPAR_C: C-terminal domain of SPAR protein (1421 - 1666)

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  • 1722 a.a.
Protein Preferred Names Protein Names

signal-induced proliferation-associated 1-like protein 2

  • SIPA1-like protein 2

Related Diseases

Diseases Alias
Warburg Micro Syndrome 4
  • WARBM4

  • Micro Syndrome 4

Cortical Dysplasia, Complex, With Other Brain Malformations 6
  • Complex Cortical Dysplasia With Other Brain Malformations 6

  • CDCBM6

  • Cdcbm56

  • Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 6

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus SIPA1L2 VGNC VGNC:65154
Rattus norvegicus SIPA1L2 RGD RGD:1306269
Bos taurus SIPA1L2 VGNC VGNC:34629
Canis familiaris SIPA1L2 VGNC VGNC:46181
Mus musculus SIPA1L2 MGD MGI:2676970
Macaca mulatta SIPA1L2 VGNC VGNC:106494
Others SIPA1L2 NCBI