RIN2 - Ras and Rab interactor 2 Gene

Homo sapiens

Also known as MACS; RASSF4

Gene ID: 54453 | Gene type: protein coding

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	Reference	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

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-163276	OX2R-IN-2	Agonist	/	Unkown
HY-RS11983	RIN2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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