Property Summary

NCBI Gene PubMed Count 31
PubMed Score 29.54
PubTator Score 35.24

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
ovarian cancer 8492 2.31443765238343E-22
lung adenocarcinoma 2714 2.71178703223857E-20
non-small cell lung cancer 2798 8.559273800833E-14
oligodendroglioma 2849 1.02782104362952E-7
colon cancer 1475 5.74002536384566E-6
Amyotrophic Lateral Sclerosis 432 3.95364377116147E-5
primary pancreatic ductal adenocarcinoma 1271 2.13690011790062E-4
lung cancer 4473 2.68775182124358E-4
psoriasis 6685 4.67564759438603E-4
atypical teratoid / rhabdoid tumor 4369 8.79718432341155E-4
pancreatic cancer 2300 0.00160031257804952
pediatric high grade glioma 2712 0.00360643964192192
astrocytoma 1493 0.0037455185606482
osteosarcoma 7933 0.00412106130601615
glioblastoma 5572 0.00746277916762546
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0113368813850896
sonic hedgehog group medulloblastoma 1482 0.0116917995709953
ductal carcinoma in situ 1745 0.0136412326108317
Pick disease 1893 0.0153144287723331
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0179490245404091
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0218696041562505
medulloblastoma, large-cell 6234 0.026406976301005
interstitial cystitis 2299 0.0337218899340008
Disease Target Count Z-score Confidence
Neurodegenerative disease 383 0.0 4.0
hereditary spastic paraplegia 313 0.0 4.0
Disease Target Count Z-score Confidence
Paraplegia 71 6.331 3.2
Neuropathy 210 3.413 1.7

Expression

Synonym

Accession Q9H902 B7Z4D7 B7Z4F2 B7Z5R9 D6W5M2 Q53TI0
Symbols HMN5B
SPG31
Yip2a
C2orf23

Gene

PANTHER Protein Class (1)

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA EggNOG Inparanoid

Gene RIF (22)

PMID Text
26671083 This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients
26201691 we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations.
24986827 Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31.
24478229 Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions.
24355597 Expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders.
24051375 REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the endoplasmic reticulum.
23108492 A novel REEP1 mutation is identified in a cohort of patients with upper motor neuron syndrome.
22703882 Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1
21618648 Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype.
20718791 previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia
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AA Sequence

MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKI      1 - 70
AFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAVMAASKG     71 - 140
QGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA             141 - 201
//

Text Mined References (33)

PMID Year Title
26671083 2015 Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
26201691 2015 Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
24986827 2015 A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.
24478229 2014 Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.
24355597 2014 REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24051375 2013 A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.
23969831 2013 Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23108492 2013 ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.
More...