RIN2 - Ras and Rab interactor 2 Gene

Also Known as MACS; RASSF4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54453

About RIN2

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:19,757,599-20,002,456 (from NCBI)

This gene has 13 transcripts (splice variants), 280 orthologues, 6 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lung (RPKM 8.3), endometrium (RPKM 7.8) and 25 other tissues.

Summary

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]

RIN2 Products (3)

mRNA	Protein	Name
NM_001242581.2	NP_001229510.1	ras and Rab interactor 2 isoform 1
NM_001378238.1	NP_001365167.1	ras and Rab interactor 2 isoform 3
NM_018993.4	NP_061866.1	ras and Rab interactor 2 isoform 2

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of endothelial cell migration	IMP IMP: Inferred from mutant phenotype	22825554	GOA
involved in positive regulation of endothelial cell-matrix adhesion via fibronectin	IMP IMP: Inferred from mutant phenotype	22825554	GOA
involved in positive regulation of vasculogenesis	IMP IMP: Inferred from mutant phenotype	22825554	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

RIN2 Protein Structure

VPS9

0
200
400
600
800
944 a.a.

Protein Preferred Names	Protein Names
ras and Rab interactor 2	RAB5 interacting protein 2

Related Diseases

Diseases	Alias
Macs Syndrome	Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis Mycobacterium Avium Complex Disease Rin2 Syndrome Mycobacterium Avium-Intracellulare Infection Tall Forehead, Sparse Hair, Skin Hyperextensibility, And Scoliosis Mycobacterium Avium Complex Mycobacterium Avium Infection Infection Due To Mycobacterium Intracellulare Mac Disease Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome Rin2 Deficiency Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome MACS Macrocephaly Alopecia Cutis Laxa And Scoliosis Syndrome
Alopecia
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Scoliosis
Autosomal Recessive Cutis Laxa Type Iii	De Barsy Syndrome Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome Progeroid Syndrome, De Barsy Type Corneal Clouding, Cutis Laxa And Intellectual Disability Cutis Laxa Growth Deficiency Syndrome Progeroid Syndrome Of De Barsy
Cutis Laxa, Autosomal Recessive, Type Iia	ARCL2A Cutis Laxa With Joint Laxity And Retarded Development Cutis Laxa With Growth And Developmental Delay Cutis Laxa, Debre Type Cutis Laxa With Bone Dystrophy Arcl2 Cutis Laxa With Congenital Disorder Of Glycosylation Autosomal Recessive Cutis Laxa Type Iia Cutis Laxa, Autosomal Recessive Type 2a Cutis Laxa, Autosomal Recessive, 2a Cl Type Iia Cutis Laxa Autosomal Recessive Type Iia
Cutis Laxa, Autosomal Recessive, Type Iiia	ARCL3A De Barsy Syndrome A Aldh18a1-Related De Barsy Syndrome Progeroid Syndrome Of De Barsy Autosomal Recessive Cutis Laxa Type Iiia P5cs Deficiency De Barsy Syndrome Cutis Laxa, Corneal Clouding, And Mental Retardation Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency Neurocutaneous Syndrome, Bicknell Type Cutis Laxa Corneal Clouding Mental Retardation Progeroid Syndrome De Barsy Type Cutis Laxa, Autosomal Recessive, 3a Cutis Laxa Autosomal Recessive Type Iiia Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin Neurocutaneous Syndrome Bicknell Type Corneal Clouding Cutis Laxa Mental Retardation
Cutis Laxa, Autosomal Recessive, Type Ic	Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities ARCL1C Urban-Rifkin-Davis Syndrome Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies URDS Autosomal Recessive Cutis Laxa Type Ic Autosomal Recessive Cutis Laxa Type 1c Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities
Cutis Laxa, Autosomal Recessive, Type Iib	ARCL2B Cutis Laxa With Progeroid Features Autosomal Recessive Cutis Laxa Type 2b Autosomal Recessive Cutis Laxa Type Iib Arcl2, Progeroid Type Cutis Laxa, Autosomal Recessive Type 2b Autosomal Recessive Cutis Laxa Type 2, Progeroid Type Cutis Laxa, Autosomal Recessive, 2b Cl Type Iib Cutis Laxa Autosomal Recessive Type Iib Cutis Laxa, Autosomal Recessive, Type 2b
Hypotrichosis 11	HYPT11 Hypotrichosis, Type 11
Geroderma Osteodysplasticum	Gerodermia Osteodysplastica Geroderma Osteodysplastica GO Walt Disney Dwarfism Type Of Gerodermia Osteodysplastica
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Autosomal Recessive Cutis Laxa Type I	Autosomal Recessive Cutis Laxa Type 1 Cutis Laxa, Type 1 Cutis Laxa, Autosomal Recessive, Type I Cutis Laxa, Autosomal Recessive Type 1 Cutis Laxa, Autosomal Recessive Arcl1 Autosomal Recessive Cutis Laxa With Severe Systemic Involvement Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
Cutis Laxa, Autosomal Recessive, Type Ib	ARCL1B Cutis Laxa, Autosomal Recessive, Type 1b Autosomal Recessive Cutis Laxa Type Ib Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency Cutis Laxa, Autosomal Recessive, 1b Cutis Laxa Autosomal Recessive Type Ib
Cutis Laxa, Autosomal Recessive, Type Iiib	ARCL3B De Barsy Syndrome B Pycr1-Related De Barsy Syndrome Autosomal Recessive Cutis Laxa Type Iiib Pycr1 Deficiency Pyrroline-5-Carboxylate Reductase 1 Deficiency Cutis Laxa, Autosomal Recessive, 3b Cutis Laxa Autosomal Recessive Type Iiib Cutis Laxa, Autosomal Recessive, Type 3b
Cutis Laxa, Autosomal Recessive, Type Iid	ARCL2D Autosomal Recessive Cutis Laxa Type Iid Autosomal Recessive Cutis Laxa Type 2d Cutis Laxa, Autosomal Recessive, 2d
Gingival Hypertrophy	Hypertrophy Of Gingivae
Occipital Horn Syndrome	OHS Eds Ix Cutis Laxa X-Linked Cutis Laxa, X-Linked Cutis Laxa, X-Linked, Formerly Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly Eds Ix, Formerly Eds9, Formerly Ehlers-Danlos Syndrome Type 9 Ehlers-Danlos Syndrome Type Ix X-Linked Cutis Laxa Ehlers-Danlos Syndrome, Occipital Horn Type Eds9 Ehlers-Danlos Syndrome Occipital Horn Type
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ane Syndrome ANES Alopecia-Progressive Neurological Defect-Endocrinopathy Syndrome Alopecia-Progressive Neurological Defect-Endocrinopathy Endocrine System Diseases
Conversion Disorder	Conversion Hysteria Or Reaction Conversion Hysterical Neurosis Hysterical Neurosis, Conversion Type Fnd Functional Movement Disorder Functional Neurological Disorder Dissociative Disorder

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149824	EGFR T790M/L858R-IN-2		99.66%	Unkown
HY-153277	Axl/Mer/CSF1R-IN-2	Inhibitor	/	Unkown
HY-176546	NK3R-IN-2	Inhibitor	/	Unkown
HY-RS11983	RIN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RIN2	VGNC	VGNC:64634
Canis familiaris	RIN2	VGNC	VGNC:45587
Macaca mulatta	RIN2	VGNC	VGNC:76770
Mus musculus	RIN2	MGD	MGI:1921280
Bos taurus	RIN2	VGNC	VGNC:33976
Rattus norvegicus	RIN2	RGD	RGD:1305873
Others	RIN2	NCBI