SYPL2 - synaptophysin like 2 Gene

Also Known as MG29

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 284612

About SYPL2

This gene has 2 transcripts (splice variants), 275 orthologues and 3 paralogues. Broad expression in kidney (RPKM 4.9), testis (RPKM 4.8) and 20 other tissues.

Summary

Involved in substantia nigra development. Predicted to be integral component of membrane. Predicted to be active in synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]

SYPL2 Products (1)

mRNA Protein Name
NM_001040709.2 NP_001035799.1 synaptophysin-like protein 2
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 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

SYPL2 Protein Structure

MARVEL

MARVEL: Membrane-associating domain (31 - 232)

  • 0
  • 100
  • 200
  • 272 a.a.
Protein Preferred Names Protein Names

synaptophysin-like protein 2

  • mitsugumin 29

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 35
  • MRD35

  • Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome

  • Autosomal Dominant Non-Syndromic Intellectual Disability 35

  • Mental Retardation, Autosomal Dominant 35

  • Autosomal Dominant Intellectual Developmental Disorder 35

  • Autosomal Dominant Mental Retardation 35

  • Mental Retardation, Autosomal Dominant, Type 35

Immunodeficiency 10
  • Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2

  • Combined Immunodeficiency Due To Stim1 Deficiency

  • IMD10

  • Stim1 Deficiency

  • Cid Due To Stim1 Deficiency

  • Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2

  • Immunodeficiency, Type 10

T Cell And Nk Cell Immunodeficiency
Stormorken Syndrome
  • Thrombocytopathy, Asplenia, And Miosis

  • Stormorken-Sjaastad-Langslet Syndrome

  • STRMK

  • York Platelet Syndrome

  • Yps

  • Thrombocytopathy, Asplenia And Miosis

  • Thrombocytopathy Asplenia Miosis

  • Thrombocytopathy-Asplenia-Miosis Syndrome

  • Miosis Disorder

Malignant Hyperthermia
  • Anesthesia Related Hyperthermia

  • Malignant Hyperpyrexia Due To Anesthesia

  • Hyperpyrexia, Malignant

  • Hyperthermia, Malignant

  • Malignant Hyperpyrexia

  • Mhs

  • Malignant Fever

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
Canis familiaris SYPL2 VGNC VGNC:54075
Macaca mulatta SYPL2 VGNC VGNC:100152
Bos taurus SYPL2 VGNC VGNC:54496
Mus musculus SYPL2 MGD MGI:1328311
Felis catus SYPL2 VGNC VGNC:107671
Rattus norvegicus SYPL2 RGD RGD:1309907
Others SYPL2 NCBI