1. Gene
  2. RPH3AL - rabphilin 3A like (without C2 domains) Gene

RPH3AL - rabphilin 3A like (without C2 domains) Gene

Homo sapiens

Also known as NOC2

Gene ID: 9501 | Gene type: protein coding

About RPH3AL

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:212,389-352,807 (from NCBI)

This gene has 22 transcripts (splice variants), 1 gene allele, 102 orthologues and 31 paralogues. Ubiquitous expression in spleen (RPKM 3.5), thyroid (RPKM 2.9) and 24 other tissues.

Summary

The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in Insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]

RPH3AL Products(4)

mRNA Protein Name
NM_001190411.2 NP_001177340.1 rab effector Noc2 isoform 1
NM_001190412.2 NP_001177341.1 rab effector Noc2 isoform 2
NM_001190413.2 NP_001177342.1 rab effector Noc2 isoform 2
NM_006987.4 NP_008918.1 rab effector Noc2 isoform 1
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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

RPH3AL Protein Structure

FYVE_2

FYVE_2: FYVE-type zinc finger (46 - 158)

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

rab effector Noc2

no C2 domains protein

RPH3AL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
RPH3AL Q9UNE2 MID2 Homo sapiens Q9UJV3-2 25416956
Intra
RPH3AL Q9UNE2 RAB27B Homo sapiens O00194 32296183
Intra
RPH3AL Q9UNE2 PNMA3 Homo sapiens Q9UL41 32296183
Intra
RPH3AL Q9UNE2 PNMA3 Homo sapiens Q9UL41 32296183
Intra
RPH3AL Q9UNE2 ANKRD11 Homo sapiens X5D778 32296183
Intra
RPH3AL Q9UNE2 PSME3 Homo sapiens P61289 32296183
Intra
RPH3AL Q9UNE2 PSME3 Homo sapiens P61289 32296183
Intra
RPH3AL Q9UNE2 HNRNPK Homo sapiens P61978-2 32296183
Intra
RPH3AL Q9UNE2 HNRNPK Homo sapiens P61978-2 32296183
Intra
RPH3AL Q9UNE2 KHDRBS3 Homo sapiens O75525 32296183
Intra
RPH3AL Q9UNE2 KHDRBS3 Homo sapiens O75525 32296183
Intra
RPH3AL Q9UNE2 AIRIM Homo sapiens Q9NX04 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Noonan Syndrome-Like Disorder With Loose Anagen Hair 2

NSLH2

Opportunistic Bacterial Infectious Disease
Nocardiosis

Nocardia Infection

Nocardia Infections

Nocardia Infectious Disease

Lung Nocardiosis

Nocardiasis

Nocardiosis Nos

Acute Contagious Conjunctivitis

Pink Eye

Contagious Opthalmia

Pinkeye

Conjunctivitis

Keratoconjunctivitis Due To Mycoplasma Conjunctivae

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
Bos taurus RPH3AL VGNC VGNC:107275
Felis catus RPH3AL VGNC VGNC:99435
Mus musculus RPH3AL MGD MGI:1923492
Rattus norvegicus RPH3AL RGD RGD:620342