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GRAMD2B GRAM domain containing 2B [ Homo sapiens (human) ]

Gene ID: 65983, updated on 15-Jun-2019

Summary

Official Symbol
GRAMD2Bprovided by HGNC
Official Full Name
GRAM domain containing 2Bprovided by HGNC
Primary source
HGNC:HGNC:24911
See related
Ensembl:ENSG00000155324
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GRAMD3; NS3TP2
Expression
Ubiquitous expression in brain (RPKM 12.1), thyroid (RPKM 10.5) and 23 other tissues See more
Orthologs

Genomic context

See GRAMD2B in Genome Data Viewer
Location:
5q23.2
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (126360096..126494377)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (125695788..125829853)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2039 Neighboring gene uncharacterized LOC101927488 Neighboring gene uncharacterized LOC101927514 Neighboring gene aldehyde dehydrogenase 7 family member A1 Neighboring gene phosphorylated adaptor for RNA export

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variation and performance on standardized cognitive tests.
NHGRI GWA Catalog
Genome-wide meta-analysis for severe diabetic retinopathy.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21313

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic microtubule IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
GRAM domain-containing protein 2B
Names
GRAM domain containing 3
GRAM domain-containing protein 3
HCV NS3-transactivated protein 2
hepatitis C virus nonstructural protein 3-transactivating protein 2

NCBI Reference Sequences (RefSeq)

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_001146319.3NP_001139791.1  GRAM domain-containing protein 2B isoform 1

    See identical proteins and their annotated locations for NP_001139791.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC008546, AC093535, AK024966, AK300154, BC008590, CB306011, DC424558
    Consensus CDS
    CCDS54891.1
    UniProtKB/Swiss-Prot
    Q96HH9
    Related
    ENSP00000426120.1, ENST00000513040.5
    Conserved Domains (1) summary
    cd13220
    Location:137229
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  2. NM_001146320.2NP_001139792.1  GRAM domain-containing protein 2B isoform 3

    See identical proteins and their annotated locations for NP_001139792.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and initiates translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK024966, AK293307, CB306011, CF994851
    Consensus CDS
    CCDS54894.1
    UniProtKB/Swiss-Prot
    Q96HH9
    Related
    ENSP00000444049.1, ENST00000544396.5
    Conserved Domains (1) summary
    cd13220
    Location:18110
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  3. NM_001146321.2NP_001139793.1  GRAM domain-containing protein 2B isoform 4

    See identical proteins and their annotated locations for NP_001139793.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and translation initiates at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC093535, AK024966, AK296267, CB306011, CF994851
    Consensus CDS
    CCDS54892.1
    UniProtKB/Swiss-Prot
    Q96HH9
    Related
    ENSP00000441876.1, ENST00000542322.5
    Conserved Domains (1) summary
    cd13220
    Location:130222
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  4. NM_001146322.3NP_001139794.1  GRAM domain-containing protein 2B isoform 5

    See identical proteins and their annotated locations for NP_001139794.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and translation initiates at an alternate start codon, compared to variant 1. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC093535, AK024966, AK303857, CB306011, DC413835
    Consensus CDS
    CCDS54893.1
    UniProtKB/Swiss-Prot
    Q96HH9
    Related
    ENSP00000426088.1, ENST00000511134.1
    Conserved Domains (1) summary
    cd13220
    Location:106198
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  5. NM_001349541.2NP_001336470.1  GRAM domain-containing protein 2B isoform 6

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and initiates translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (6) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC093535, BC008590, BP194080, CB306011, CF994851
    Conserved Domains (1) summary
    cd13220
    Location:122214
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  6. NM_001349542.2NP_001336471.1  GRAM domain-containing protein 2B isoform 7

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and initiates translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (7) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC093535, AK024966, AK303857, BC008590, BP194080, CB306011, CF994851
    Conserved Domains (1) summary
    cd13220
    Location:106198
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  7. NM_001349543.2NP_001336472.1  GRAM domain-containing protein 2B isoform 8

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and initiates translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (8) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC093535, BC008590, BP194080, CB306011, CF994851, CN311105
    Conserved Domains (1) summary
    cd13220
    Location:18110
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  8. NM_001349544.2NP_001336473.1  GRAM domain-containing protein 2B isoform 9

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and initiates translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (9) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC093535, BC008590, BP194080, CB306011, CF994851, DB477009
    Related
    ENSP00000426143.1, ENST00000515200.5
    Conserved Domains (1) summary
    cd13220
    Location:130222
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  9. NM_023927.4NP_076416.2  GRAM domain-containing protein 2B isoform 2

    See identical proteins and their annotated locations for NP_076416.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC093535, AK024966, BC008590, CB306011, CF994851
    Consensus CDS
    CCDS4136.1
    UniProtKB/Swiss-Prot
    Q96HH9
    Related
    ENSP00000285689.3, ENST00000285689.7
    Conserved Domains (1) summary
    cd13220
    Location:122214
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

RNA

  1. NR_146195.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) contains multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093535, AK024966, AK296267, BM729036, CB306011, CF994851, DC341655
  2. NR_146196.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) contains multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093535, AK024966, AK296267, BM729036, CB306011, CF994851
  3. NR_146197.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) contains multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093535, AK024966, AK296267, BM729036, BP194080, CB306011, CF994851, DC300218

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    126360120..126494377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543593.2XP_011541895.1  GRAM domain-containing protein 2B isoform X3

    Conserved Domains (1) summary
    cd13220
    Location:137229
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  2. XM_017009781.1XP_016865270.1  GRAM domain-containing protein 2B isoform X8

    Conserved Domains (1) summary
    cd13220
    Location:104196
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  3. XM_005272057.4XP_005272114.1  GRAM domain-containing protein 2B isoform X4

    Conserved Domains (1) summary
    cd13220
    Location:136228
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  4. XM_005272062.4XP_005272119.1  GRAM domain-containing protein 2B isoform X6

    See identical proteins and their annotated locations for XP_005272119.1

    Conserved Domains (1) summary
    cd13220
    Location:106198
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  5. XM_005272058.4XP_005272115.1  GRAM domain-containing protein 2B isoform X5

    Conserved Domains (1) summary
    cd13220
    Location:136228
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  6. XM_024446201.1XP_024301969.1  GRAM domain-containing protein 2B isoform X8

    Conserved Domains (1) summary
    cd13220
    Location:104196
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  7. XM_005272063.3XP_005272120.1  GRAM domain-containing protein 2B isoform X7

    See identical proteins and their annotated locations for XP_005272120.1

    UniProtKB/Swiss-Prot
    Q96HH9
    Conserved Domains (1) summary
    cd13220
    Location:106198
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  8. XM_017009785.1XP_016865274.1  GRAM domain-containing protein 2B isoform X12

    UniProtKB/Swiss-Prot
    Q96HH9
    Conserved Domains (1) summary
    cd13220
    Location:18110
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  9. XM_005272064.3XP_005272121.1  GRAM domain-containing protein 2B isoform X8

    See identical proteins and their annotated locations for XP_005272121.1

    Conserved Domains (1) summary
    cd13220
    Location:104196
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  10. XM_017009782.1XP_016865271.1  GRAM domain-containing protein 2B isoform X9

  11. XM_017009784.1XP_016865273.1  GRAM domain-containing protein 2B isoform X11

    Conserved Domains (1) summary
    cd13220
    Location:18110
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  12. XM_017009783.1XP_016865272.1  GRAM domain-containing protein 2B isoform X10

  13. XM_011543591.2XP_011541893.1  GRAM domain-containing protein 2B isoform X1

    Conserved Domains (1) summary
    cd13220
    Location:180272
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  14. XM_011543592.3XP_011541894.1  GRAM domain-containing protein 2B isoform X2

    Conserved Domains (1) summary
    cd13220
    Location:180272
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
  15. XM_011543594.2XP_011541896.1  GRAM domain-containing protein 2B isoform X6

    See identical proteins and their annotated locations for XP_011541896.1

    Conserved Domains (1) summary
    cd13220
    Location:106198
    PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
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