Seroatlas · Human Serome Atlas

RIN2

Ras and Rab interactor 2

Also known as: RASSF4, RIN2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WYP3
Gene: RIN2
Ensembl: ENSG00000132669
Chromosome: 20
Canonical length: 895 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoli,Golgi apparatus,Cytosol
Quaternary structure: Homotetramer

OverviewNCBI Gene

The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

Canonical amino-acid sequenceUniProt

895 residues, UniProt reviewed canonical sequence.

>Q8WYP3|RIN2
     1  MTAWTMGARG LDKRGSFFKL IDTIASEIGE LKQEMVRTDV NLENGLEPAE THSMVRHKDG
    61  GYSEEEDVKT CARDSGYDSL SNRLSILDRL LHTHPIWLQL SLSEEEAAEV LQAQPPGIFL
   121  VHKSTKMQKK VLSLRLPCEF GAPLKEFAIK ESTYTFSLEG SGISFADLFR LIAFYCISRD
   181  VLPFTLKLPY AISTAKSEAQ LEELAQMGLN FWSSPADSKP PNLPPPHRPL SSDGVCPASL
   241  RQLCLINGVH SIKTRTPSEL ECSQTNGALC FINPLFLKVH SQDLSGGLKR PSTRTPNANG
   301  TERTRSPPPR PPPPAINSLH TSPRLARTET QTSMPETVNH NKHGNVALPG TKPTPIPPPR
   361  LKKQASFLEA EGGAKTLSGG RPGAGPELEL GTAGSPGGAP PEAAPGDCTR APPPSSESRP
   421  PCHGGRQRLS DMSISTSSSD SLEFDRSMPL FGYEADTNSS LEDYEGESDQ ETMAPPIKSK
   481  KKRSSSFVLP KLVKSQLQKV SGVFSSFMTP EKRMVRRIAE LSRDKCTYFG CLVQDYVSFL
   541  QENKECHVSS TDMLQTIRQF MTQVKNYLSQ SSELDPPIES LIPEDQIDVV LEKAMHKCIL
   601  KPLKGHVEAM LKDFHMADGS WKQLKENLQL VRQRNPQELG VFAPTPDFVD VEKIKVKFMT
   661  MQKMYSPEKK VMLLLRVCKL IYTVMENNSG RMYGADDFLP VLTYVIAQCD MLELDTEIEY
   721  MMELLDPSLL HGEGGYYLTS AYGALSLIKN FQEEQAARLL SSETRDTLRQ WHKRRTTNRT
   781  IPSVDDFQNY LRVAFQEVNS GCTGKTLLVR PYITTEDVCQ ICAEKFKVGD PEEYSLFLFV
   841  DETWQQLAED TYPQKIKAEL HSRPQPHIFH FVYKRIKNDP YGIIFQNGEE DLTTS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RIN2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.45
Highest tissue expression: 19 nTPM

Expression across tissuesHPA

Tissue

placenta: 19 nTPM
heart muscle: 18 nTPM
lung: 17 nTPM
gallbladder: 17 nTPM
spleen: 16 nTPM
smooth muscle: 15 nTPM

Single-cell type

oligodendrocyte progenitor cells: 518 nCPM
fibro-adipogenic progenitors: 448 nCPM
choroid plexus epithelial cells: 414 nCPM
vascular endothelial cells: 411 nCPM
monocytes: 402 nCPM
microglia: 400 nCPM

Immune cell

classical monocyte: 1.6 nTPM
intermediate monocyte: 1 nTPM
non-classical monocyte: 1 nTPM
myeloid DC: 0.8 nTPM
neutrophil: 0.5 nTPM
total PBMC: 0.4 nTPM

Brain region

medulla oblongata: 45 nTPM
choroid plexus: 44 nTPM
basal ganglia: 42 nTPM
white matter: 42 nTPM
midbrain: 41 nTPM
thalamus: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RIN2.

Disease | AllUniProt

Conditions RIN2 is implicated in, by any mechanism.

MACS syndrome (MACS) MIM:613075

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 697 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

RIN2 syndrome
RIN2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.55
gnomAD pLI: 0
gnomAD missense Z: 0.72
DepMap mean gene effect: 0
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RIN2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

RAB5B

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RIN2 as an antibody target. Whether an autoantibody or antibody against RIN2 could matter depends on whether native RIN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RIN2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RIN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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