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RABL2A RAB, member of RAS oncogene family like 2A [ Homo sapiens (human) ]

Gene ID: 11159, updated on 23-Nov-2021

Summary

Official Symbol
RABL2Aprovided by HGNC
Official Full Name
RAB, member of RAS oncogene family like 2Aprovided by HGNC
Primary source
HGNC:HGNC:9799
See related
Ensembl:ENSG00000144134 MIM:605412
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
Summary
This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Expression
Ubiquitous expression in testis (RPKM 5.1), lung (RPKM 4.1) and 25 other tissues See more
Orthologs
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Genomic context

See RABL2A in Genome Data Viewer
Location:
2q14.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (113627218..113643392)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (114384843..114400969)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene WASP family homolog 2, pseudogene Neighboring gene DEAD/H-box helicase 11 like 2 (pseudogene) Neighboring gene ribosomal protein L23a pseudogene 7 Neighboring gene uncharacterized LOC112268423 Neighboring gene SNRPA1 pseudogene 1 Neighboring gene ACR pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-02-02)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated 2021-02-02)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ78724, MGC117180

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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.

mRNA and Protein(s)

  1. NM_001306158.2NP_001293087.1  rab-like protein 2A isoform 2

    See identical proteins and their annotated locations for NP_001293087.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform 3. Variants 3, 4, and 13-15 all encode the same isoform (2).
    Source sequence(s)
    AK092971, BI552699, CA427898, CR456554, HY023006, HY075940
    Consensus CDS
    CCDS77454.1
    UniProtKB/TrEMBL
    Q6IC14
    Related
    ENSP00000507832.1, ENST00000683472.1
    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  2. NM_001306159.2NP_001293088.1  rab-like protein 2A isoform 2

    See identical proteins and their annotated locations for NP_001293088.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR compared to variant 3. Variants 3, 4, and 13-15 all encode the same isoform (2).
    Source sequence(s)
    BC144052, BI552699, CA427898, CR456554, HY023006, HY075940
    Consensus CDS
    CCDS77454.1
    UniProtKB/TrEMBL
    Q6IC14
    Related
    ENSP00000376870.3, ENST00000393165.7
    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  3. NM_001306160.3NP_001293089.1  rab-like protein 2A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and uses two alternate in-frame splice sites in the central coding region, compared to variant 3. The encoded isoform (3) is longer than isoform 2. Variants 5 and 12 both encode the same isoform (3).
    Source sequence(s)
    AL078621
    Consensus CDS
    CCDS77455.1
    UniProtKB/Swiss-Prot
    Q9UBK7
    Conserved Domains (1) summary
    cd04124
    Location:22191
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  4. NM_001306161.2NP_001293090.1  rab-like protein 2A isoform 4

    See identical proteins and their annotated locations for NP_001293090.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two consecutive alternate in-frame exons in the central coding region compared to variant 3. The encoded isoform (4) is shorter than isoform 2. Variants 6, 20, and 21 all encode the same isoform (4).
    Source sequence(s)
    AK092971, BC111008, BI552699, CA427898, CR456554, DB451301, HY023006
    Consensus CDS
    CCDS77456.1
    UniProtKB/TrEMBL
    B7ZBD5, Q2TAB6, Q6IC14
    Related
    ENSP00000386460.1, ENST00000409842.5
    Conserved Domains (1) summary
    cl21455
    Location:22118
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. NM_001354405.2NP_001341334.1  rab-like protein 2A isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 8-11, encodes the longest isoform (5).
    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  6. NM_001354406.2NP_001341335.1  rab-like protein 2A isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 7 and 9-11, encodes the longest isoform (5).
    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  7. NM_001354407.2NP_001341336.1  rab-like protein 2A isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 7, 8, 10, and 11, encodes the longest isoform (5).
    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  8. NM_001354408.2NP_001341337.1  rab-like protein 2A isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 7-9 and 11, encodes the longest isoform (5).
    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  9. NM_001354409.2NP_001341338.1  rab-like protein 2A isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 7-10, encodes the longest isoform (5).
    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  10. NM_001354410.2NP_001341339.1  rab-like protein 2A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variant 5, encodes isoform 3.
    Source sequence(s)
    AL078621
    Consensus CDS
    CCDS77455.1
    Related
    ENSP00000387229.1, ENST00000409875.5
    Conserved Domains (1) summary
    cd04124
    Location:22191
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  11. NM_001354412.2NP_001341341.1  rab-like protein 2A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 3, 4, 14, and 15, encodes isoform 2.
    Source sequence(s)
    AL078621
    Consensus CDS
    CCDS77454.1
    Related
    ENST00000409121.6
    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  12. NM_001354413.2NP_001341342.1  rab-like protein 2A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 3, 4, 13, and 15, encodes isoform 2.
    Source sequence(s)
    AL078621
    Consensus CDS
    CCDS77454.1
    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  13. NM_001354414.2NP_001341343.1  rab-like protein 2A isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variants 3, 4, 13, and 14, encodes isoform 2.
    Source sequence(s)
    AL078621
    Consensus CDS
    CCDS77454.1
    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  14. NM_001354416.2NP_001341345.1  rab-like protein 2A isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variants 1 and 2, encodes isoform 1.
    Source sequence(s)
    AL078621
    Consensus CDS
    CCDS2118.1
    Conserved Domains (1) summary
    cd04124
    Location:22181
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  15. NM_001354417.2NP_001341346.1  rab-like protein 2A isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL078621, BC144050
    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  16. NM_001354418.2NP_001341347.1  rab-like protein 2A isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18), as well as variant 19, encodes isoform 7.
    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cl21455
    Location:22128
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  17. NM_001354419.2NP_001341348.1  rab-like protein 2A isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19), as well as variant 18, encodes isoform 7.
    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cl21455
    Location:22128
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  18. NM_001354421.2NP_001341350.1  rab-like protein 2A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20), as well as variants 6 and 21, encodes isoform 4.
    Source sequence(s)
    AL078621
    Consensus CDS
    CCDS77456.1
    Related
    ENSP00000365622.3, ENST00000376439.3
    Conserved Domains (1) summary
    cl21455
    Location:22118
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  19. NM_001354423.2NP_001341352.1  rab-like protein 2A isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21), as well as variants 6 and 20, encodes isoform 4.
    Source sequence(s)
    AL078621
    Consensus CDS
    CCDS77456.1
    Conserved Domains (1) summary
    cl21455
    Location:22118
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  20. NM_001354424.2NP_001341353.1  rab-like protein 2A isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cl21455
    Location:22117
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  21. NM_001354425.2NP_001341354.1  rab-like protein 2A isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cl21455
    Location:1107
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  22. NM_001354426.2NP_001341355.1  rab-like protein 2A isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cl21455
    Location:197
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  23. NM_001354427.2NP_001341356.1  rab-like protein 2A isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cl21455
    Location:290
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  24. NM_001354428.2NP_001341357.1  rab-like protein 2A isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL078621
    Conserved Domains (1) summary
    cl21455
    Location:289
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  25. NM_007082.5NP_009013.1  rab-like protein 2A isoform 1

    See identical proteins and their annotated locations for NP_009013.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and uses an alternate in-frame splice site in the central coding region, compared to variant 3. The encoded isoform (1) is one amino acid shorter than isoform 2. Variants 1, 2, and 16 all encode the same isoform (1).
    Source sequence(s)
    AF095350, BI552699, BU728800, HY023006
    Consensus CDS
    CCDS2118.1
    UniProtKB/Swiss-Prot
    Q9UBK7
    Related
    ENSP00000376871.3, ENST00000393166.7
    Conserved Domains (1) summary
    cd04124
    Location:22181
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  26. NM_013412.4NP_038198.1  rab-like protein 2A isoform 1

    See identical proteins and their annotated locations for NP_038198.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in the central coding region, compared to variant 3. The encoded isoform (1) is one amino acid shorter than isoform 2. Variants 1, 2, and 16 all encode the same isoform (1).
    Source sequence(s)
    AF095351, AK092971, BI552699, CA427898, HY023006
    Consensus CDS
    CCDS2118.1
    UniProtKB/Swiss-Prot
    Q9UBK7
    Related
    ENSP00000376872.3, ENST00000393167.7
    Conserved Domains (1) summary
    cd04124
    Location:22181
    RabL2; Rab GTPase-like family 2 (Rab-like2)

RNA

  1. NR_148879.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL078621
  2. NR_148880.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL078621
  3. NR_148881.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL078621
    Related
    ENST00000450954.5
  4. NR_148882.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL078621
    Related
    ENST00000452831.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    113627218..113643392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003211.1XP_016858700.1  rab-like protein 2A isoform X3

    Conserved Domains (2) summary
    cd04124
    Location:22188
    RabL2; Rab GTPase-like family 2 (Rab-like2)
    smart00175
    Location:22167
    RAB; Rab subfamily of small GTPases
  2. XM_024452575.1XP_024308343.1  rab-like protein 2A isoform X5

    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  3. XM_017003222.1XP_016858711.1  rab-like protein 2A isoform X6

    UniProtKB/Swiss-Prot
    Q9UBK7
    Conserved Domains (1) summary
    cd04124
    Location:22181
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  4. XM_024452576.1XP_024308344.1  rab-like protein 2A isoform X10

    Conserved Domains (1) summary
    cl21455
    Location:2100
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. XM_017003230.1XP_016858719.1  rab-like protein 2A isoform X9

    Conserved Domains (1) summary
    cl21455
    Location:1107
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  6. XM_017003207.1XP_016858696.1  rab-like protein 2A isoform X1

    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  7. XM_017003204.1XP_016858693.1  rab-like protein 2A isoform X1

    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  8. XM_017003214.1XP_016858703.1  rab-like protein 2A isoform X5

    UniProtKB/TrEMBL
    Q6IC14
    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  9. XM_017003203.1XP_016858692.1  rab-like protein 2A isoform X1

    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  10. XM_017003205.1XP_016858694.1  rab-like protein 2A isoform X1

    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  11. XM_017003210.1XP_016858699.1  rab-like protein 2A isoform X3

    Conserved Domains (2) summary
    cd04124
    Location:22188
    RabL2; Rab GTPase-like family 2 (Rab-like2)
    smart00175
    Location:22167
    RAB; Rab subfamily of small GTPases
  12. XM_017003213.1XP_016858702.1  rab-like protein 2A isoform X5

    UniProtKB/TrEMBL
    Q6IC14
    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  13. XM_017003215.1XP_016858704.1  rab-like protein 2A isoform X5

    UniProtKB/TrEMBL
    Q6IC14
    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  14. XM_024452573.1XP_024308341.1  rab-like protein 2A isoform X2

    Conserved Domains (1) summary
    cd04124
    Location:22191
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  15. XM_017003212.1XP_016858701.1  rab-like protein 2A isoform X4

  16. XM_017003220.1XP_016858709.1  rab-like protein 2A isoform X6

    UniProtKB/Swiss-Prot
    Q9UBK7
    Conserved Domains (1) summary
    cd04124
    Location:22181
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  17. XM_017003223.1XP_016858712.1  rab-like protein 2A isoform X7

    Conserved Domains (1) summary
    cl21455
    Location:22128
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  18. XM_017003226.1XP_016858715.1  rab-like protein 2A isoform X8

    UniProtKB/TrEMBL
    B7ZBD5
    Conserved Domains (1) summary
    cl21455
    Location:22118
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  19. XM_017003234.1XP_016858723.1  rab-like protein 2A isoform X11

  20. XM_006712209.3XP_006712272.1  rab-like protein 2A isoform X1

    See identical proteins and their annotated locations for XP_006712272.1

    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  21. XM_017003216.1XP_016858705.1  rab-like protein 2A isoform X5

    UniProtKB/TrEMBL
    Q6IC14
    Conserved Domains (1) summary
    cd04124
    Location:22182
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  22. XM_011510509.2XP_011508811.1  rab-like protein 2A isoform X1

    See identical proteins and their annotated locations for XP_011508811.1

    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)
  23. XM_006712208.3XP_006712271.1  rab-like protein 2A isoform X1

    See identical proteins and their annotated locations for XP_006712271.1

    Conserved Domains (1) summary
    cd04124
    Location:22192
    RabL2; Rab GTPase-like family 2 (Rab-like2)

RNA

  1. XR_002959036.1 RNA Sequence

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