RIN2 Ras and Rab interactor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RIN2provided by HGNC
Official Full Name: Ras and Rab interactor 2provided by HGNC
Primary source: HGNC:HGNC:18750
See related: Ensembl:ENSG00000132669 MIM:610222; AllianceGenome:HGNC:18750
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MACS; RASSF4
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]
Expression: Ubiquitous expression in lung (RPKM 8.3), endometrium (RPKM 7.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p11.23

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (19757599..20002456)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (19809879..20056735)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (19738902..19983100)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NAA20 recruits Rin2 and promotes triple-negative breast cancer progression by regulating Rab5A-mediated activation of EGFR signaling.
Title: NAA20 recruits Rin2 and promotes triple-negative breast cancer progression by regulating Rab5A-mediated activation of EGFR signaling.
Rare adult pilocytic astrocytoma of the septum pellucidum with novel RIN2::BRAF fusion.
Title: Rare adult pilocytic astrocytoma of the septum pellucidum with novel RIN2::BRAF fusion.
The endosomal RIN2/Rab5C machinery prevents VEGFR2 degradation to control gene expression and tip cell identity during angiogenesis.
Title: The endosomal RIN2/Rab5C machinery prevents VEGFR2 degradation to control gene expression and tip cell identity during angiogenesis.
Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.
Title: Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.
Rab5 as a novel regulator of calpain2 activity and focal adhesion proteolysis leading to cell migration
Title: Calpain2 mediates Rab5-driven focal adhesion disassembly and cell migration.
we describe a 10th patient, the first patient of Caucasian origin and the oldest reported patient so far, who harbors the previously identified homozygous RIN2 mutation c.1878dupC (p. (Ile627Hisfs*7)). Besides the hallmark features, this patient also presents problems not previously associated with RIN2 syndrome, including cervical vertebral fusion, mild hearing loss, and colonic fibrosis.
Title: RIN2 syndrome: Expanding the clinical phenotype.
We describe the fourth family with RIN2 syndrome in two siblings with a novel homozygous mutation in the RIN2 gene and exhibiting additional clinical features that may also contribute to further delineation of the phenotypic spectrum.
Title: Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.
These findings confirm that RIN2 defects are associated with a distinct genodermatosis and underscore the involvement of RIN2 and its associated pathways in the pathogenesis of connective tissue disorders.
Title: The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2).
RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.
Title: RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
RIN2 syndrome MedGen: C2751321 OMIM: 613075 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-R01084 (e-PCR)
- UniSTS:54034

Z94331 (e-PCR)
- UniSTS:32023

RH36628 (e-PCR)
- UniSTS:37916

RH68568 (e-PCR)
- UniSTS:7469

AL034508 (e-PCR)
- UniSTS:94260

A007G35 (e-PCR)
- UniSTS:45925

D20S537E (e-PCR)
- UniSTS:54890

STS-M37190 (e-PCR)
- UniSTS:24693

STS-M37190 (e-PCR)
- UniSTS:73336

STS-AA037230 (e-PCR)
- UniSTS:17028

RH81081 (e-PCR)
- UniSTS:83608

RH92093 (e-PCR)
- UniSTS:88817

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables GTPase regulator activity	NAS Non-traceable Author Statement more info	PubMed
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables guanyl-nucleotide exchange factor activity	NAS Non-traceable Author Statement more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endothelial cell-matrix adhesion via fibronectin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vasculogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in small GTPase-mediated signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ras and Rab interactor 2

Names: RAB5 interacting protein 2; RAS association (RalGDS/AF-6) domain containing protein JC265; RAS association domain family 4; RAS inhibitor JC265; RAS interaction/interference protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016310.3 RefSeqGene

Range

5661..249859

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001242581.2 → NP_001229510.1 ras and Rab interactor 2 isoform 1

See identical proteins and their annotated locations for NP_001229510.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AI695804, AK094884, AL136924, BM973182

UniProtKB/TrEMBL

B3KT35

Conserved Domains (3) summary

smart00167
Location:697 → 815

VPS9; Domain present in VPS9

cd01776
Location:839 → 925

Rin1_RA; Ubiquitin domain of RIN1 RAS effector

cd10394
Location:135 → 234

SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
NM_001378238.1 → NP_001365167.1 ras and Rab interactor 2 isoform 3

Status: REVIEWED

Source sequence(s)

AL049538, AL121761, AL132821

Conserved Domains (2) summary

smart00167
Location:442 → 560

VPS9; Domain present in VPS9

cd16131
Location:581 → 671

RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)
NM_018993.4 → NP_061866.1 ras and Rab interactor 2 isoform 2

See identical proteins and their annotated locations for NP_061866.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a portion of the 5' UTR and 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AL049538, AL121761, AL132821

Consensus CDS

CCDS93018.1

UniProtKB/Swiss-Prot

Q00425, Q5TFT8, Q8WYP3, Q9BQL3, Q9H071

UniProtKB/TrEMBL

B3KT35

Related

ENSP00000255006.7, ENST00000255006.12

Conserved Domains (3) summary

smart00167
Location:648 → 766

VPS9; Domain present in VPS9

cd10394
Location:86 → 185

SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

cd16131
Location:787 → 877

RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

19757599..20002456

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047440212.1 → XP_047296168.1 ras and Rab interactor 2 isoform X2
XM_047440213.1 → XP_047296169.1 ras and Rab interactor 2 isoform X2
XM_017027888.2 → XP_016883377.1 ras and Rab interactor 2 isoform X2

UniProtKB/TrEMBL

B3KT35

Conserved Domains (3) summary

smart00167
Location:697 → 815

VPS9; Domain present in VPS9

cd01776
Location:839 → 925

Rin1_RA; Ubiquitin domain of RIN1 RAS effector

cd10394
Location:135 → 234

SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
XM_017027887.2 → XP_016883376.1 ras and Rab interactor 2 isoform X2

UniProtKB/TrEMBL

B3KT35

Conserved Domains (3) summary

smart00167
Location:697 → 815

VPS9; Domain present in VPS9

cd01776
Location:839 → 925

Rin1_RA; Ubiquitin domain of RIN1 RAS effector

cd10394
Location:135 → 234

SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
XM_047440211.1 → XP_047296167.1 ras and Rab interactor 2 isoform X2
XM_047440215.1 → XP_047296171.1 ras and Rab interactor 2 isoform X4

UniProtKB/Swiss-Prot

Q00425, Q5TFT8, Q8WYP3, Q9BQL3, Q9H071
XM_047440210.1 → XP_047296166.1 ras and Rab interactor 2 isoform X2
XM_047440209.1 → XP_047296165.1 ras and Rab interactor 2 isoform X2
XM_047440214.1 → XP_047296170.1 ras and Rab interactor 2 isoform X4

UniProtKB/Swiss-Prot

Q00425, Q5TFT8, Q8WYP3, Q9BQL3, Q9H071
XM_017027890.2 → XP_016883379.1 ras and Rab interactor 2 isoform X4

UniProtKB/Swiss-Prot

Q00425, Q5TFT8, Q8WYP3, Q9BQL3, Q9H071

UniProtKB/TrEMBL

B3KT35

Related

ENSP00000498085.1, ENST00000648440.1

Conserved Domains (3) summary

smart00167
Location:648 → 766

VPS9; Domain present in VPS9

cd10394
Location:86 → 185

SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

cd16131
Location:787 → 877

RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)
XM_011529255.3 → XP_011527557.3 ras and Rab interactor 2 isoform X1
XM_006723577.2 → XP_006723640.1 ras and Rab interactor 2 isoform X4

See identical proteins and their annotated locations for XP_006723640.1

UniProtKB/Swiss-Prot

Q00425, Q5TFT8, Q8WYP3, Q9BQL3, Q9H071

UniProtKB/TrEMBL

B3KT35

Conserved Domains (3) summary

smart00167
Location:648 → 766

VPS9; Domain present in VPS9

cd10394
Location:86 → 185

SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins

cd16131
Location:787 → 877

RA_Rin2; Ras-associating (RA) domain found in Ras and Rab interactor 2 (Rin2)
XM_017027893.2 → XP_016883382.2 ras and Rab interactor 2 isoform X7
XM_017027889.2 → XP_016883378.1 ras and Rab interactor 2 isoform X3

UniProtKB/TrEMBL

B3KT35
XM_047440216.1 → XP_047296172.1 ras and Rab interactor 2 isoform X5
XM_017027892.2 → XP_016883381.1 ras and Rab interactor 2 isoform X6

UniProtKB/TrEMBL

B3KT35

Conserved Domains (3) summary

smart00167
Location:595 → 713

VPS9; Domain present in VPS9

cd01776
Location:737 → 823

Rin1_RA; Ubiquitin domain of RIN1 RAS effector

cd10394
Location:33 → 132

SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins
XM_011529259.3 → XP_011527561.1 ras and Rab interactor 2 isoform X6

UniProtKB/TrEMBL

B3KT35

Related

ENST00000484638.1

Conserved Domains (3) summary

smart00167
Location:595 → 713

VPS9; Domain present in VPS9

cd01776
Location:737 → 823

Rin1_RA; Ubiquitin domain of RIN1 RAS effector

cd10394
Location:33 → 132

SH2_RIN2; Src homology 2 (SH2) domain found in Ras and Rab interactor 2 (RIN2)-like proteins