UniProtKB - Q6UX65 (DRAM2_HUMAN)
Protein
DNA damage-regulated autophagy modulator protein 2
Gene
DRAM2
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in the initiation of autophagy. In the retina, might be involved in the process of photoreceptor cells renewal and recycling to preserve visual function. Induces apoptotic cell death when coexpressed with DRAM1.2 Publications
GO - Biological processi
- apoptotic process Source: UniProtKB-KW
- autophagy Source: UniProtKB-KW
- photoreceptor cell maintenance Source: UniProtKB
- regulation of autophagy Source: UniProtKB
- visual perception Source: UniProtKB
Keywordsi
Biological process | Apoptosis, Autophagy |
Enzyme and pathway databases
PathwayCommonsi | Q6UX65 |
SIGNORi | Q6UX65 |
Protein family/group databases
TCDBi | 8.A.113.1.9, the tentonin or tmem150 (tmem150) family |
Names & Taxonomyi
Protein namesi | Recommended name: DNA damage-regulated autophagy modulator protein 2Alternative name(s): Transmembrane protein 77 |
Gene namesi | Name:DRAM2 Synonyms:TMEM77 ORF Names:PSEC0031, UNQ154/PRO180 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28769, DRAM2 |
MIMi | 613360, gene |
neXtProti | NX_Q6UX65 |
VEuPathDBi | HostDB:ENSG00000156171.14 |
Subcellular locationi
Plasma membrane
- Apical cell membrane By similarity
Lysosome
- Lysosome membrane 2 Publications; Multi-pass membrane protein 2 Publications
Other locations
- Photoreceptor inner segment By similarity
Note: Localized to photoreceptor inner segments and to the apical surface of retinal pigment epithelial cells.By similarity
Golgi apparatus
- Golgi apparatus Source: HPA
Lysosome
- lysosomal membrane Source: UniProtKB-SubCell
- lysosome Source: UniProtKB
Plasma Membrane
- apical plasma membrane Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: HPA
- photoreceptor inner segment Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 8 – 28 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 53 – 73 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 88 – 108 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 118 – 138 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 160 – 180 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 207 – 227 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell membrane, Lysosome, MembranePathology & Biotechi
Involvement in diseasei
Cone-rod dystrophy 21 (CORD21)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075073 | 22 | Missing in CORD21. 1 Publication | 1 | |
Natural variantiVAR_075074 | 27 | Y → H in CORD21. 1 PublicationCorresponds to variant dbSNP:rs786205662EnsemblClinVar. | 1 | |
Natural variantiVAR_075075 | 44 | S → N in CORD21. 1 PublicationCorresponds to variant dbSNP:rs786205665EnsemblClinVar. | 1 | |
Natural variantiVAR_075076 | 73 – 75 | Missing in CORD21. 1 Publication | 3 | |
Natural variantiVAR_075077 | 121 | H → L in CORD21. 1 PublicationCorresponds to variant dbSNP:rs786205664EnsemblClinVar. | 1 |
Keywords - Diseasei
Cone-rod dystrophy, Disease variantOrganism-specific databases
DisGeNETi | 128338 |
MalaCardsi | DRAM2 |
MIMi | 616502, phenotype |
OpenTargetsi | ENSG00000156171 |
Orphaneti | 1872, Cone rod dystrophy |
PharmGKBi | PA165751270 |
Miscellaneous databases
Pharosi | Q6UX65, Tbio |
Genetic variation databases
BioMutai | DRAM2 |
DMDMi | 74749415 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000254102 | 1 – 266 | DNA damage-regulated autophagy modulator protein 2Add BLAST | 266 |
Proteomic databases
EPDi | Q6UX65 |
jPOSTi | Q6UX65 |
MassIVEi | Q6UX65 |
MaxQBi | Q6UX65 |
PaxDbi | Q6UX65 |
PeptideAtlasi | Q6UX65 |
PRIDEi | Q6UX65 |
ProteomicsDBi | 67568 |
PTM databases
iPTMneti | Q6UX65 |
PhosphoSitePlusi | Q6UX65 |
SwissPalmi | Q6UX65 |
Expressioni
Tissue specificityi
Expression is down-regulated in ovarian tumors (at protein level). Widely expressed with highest levels in placenta and heart. Expressed in the retina. Not detected in brain or thymus.3 Publications
Inductioni
Not induced by p53/TP53 or TP73/p73.1 Publication
Gene expression databases
Bgeei | ENSG00000156171, Expressed in small intestine Peyer's patch and 214 other tissues |
ExpressionAtlasi | Q6UX65, baseline and differential |
Genevisiblei | Q6UX65, HS |
Organism-specific databases
HPAi | ENSG00000156171, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 126108, 5 interactors |
IntActi | Q6UX65, 5 interactors |
STRINGi | 9606.ENSP00000286692 |
Miscellaneous databases
RNActi | Q6UX65, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the DRAM/TMEM150 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4320, Eukaryota |
GeneTreei | ENSGT01000000214507 |
HOGENOMi | CLU_059992_2_2_1 |
InParanoidi | Q6UX65 |
OMAi | LVQKLHW |
OrthoDBi | 1199230at2759 |
PhylomeDBi | Q6UX65 |
TreeFami | TF314508 |
Family and domain databases
InterProi | View protein in InterPro IPR032990, DRAM2 IPR019402, Frag1/DRAM/Sfk1 |
PANTHERi | PTHR21324:SF10, PTHR21324:SF10, 1 hit |
Pfami | View protein in Pfam PF10277, Frag1, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q6UX65-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MWWFQQGLSF LPSALVIWTS AAFIFSYITA VTLHHIDPAL PYISDTGTVA
60 70 80 90 100
PEKCLFGAML NIAAVLCIAT IYVRYKQVHA LSPEENVIIK LNKAGLVLGI
110 120 130 140 150
LSCLGLSIVA NFQKTTLFAA HVSGAVLTFG MGSLYMFVQT ILSYQMQPKI
160 170 180 190 200
HGKQVFWIRL LLVIWCGVSA LSMLTCSSVL HSGNFGTDLE QKLHWNPEDK
210 220 230 240 250
GYVLHMITTA AEWSMSFSFF GFFLTYIRDF QKISLRVEAN LHGLTLYDTA
260
PCPINNERTR LLSRDI
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketS4R2Z2 | S4R2Z2_HUMAN | DNA damage-regulated autophagy modu... | DRAM2 | 66 | Annotation score: |
Sequence cautioni
The sequence BAC11562 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 221 | G → V in AAR02410 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_075073 | 22 | Missing in CORD21. 1 Publication | 1 | |
Natural variantiVAR_075074 | 27 | Y → H in CORD21. 1 PublicationCorresponds to variant dbSNP:rs786205662EnsemblClinVar. | 1 | |
Natural variantiVAR_075075 | 44 | S → N in CORD21. 1 PublicationCorresponds to variant dbSNP:rs786205665EnsemblClinVar. | 1 | |
Natural variantiVAR_075076 | 73 – 75 | Missing in CORD21. 1 Publication | 3 | |
Natural variantiVAR_075077 | 121 | H → L in CORD21. 1 PublicationCorresponds to variant dbSNP:rs786205664EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY336747 mRNA Translation: AAR02410.1 EF710624 mRNA Translation: ABR27678.1 AY358492 mRNA Translation: AAQ88856.1 AL355816 Genomic DNA No translation available. CH471122 Genomic DNA Translation: EAW56464.1 BC047025 mRNA Translation: AAH47025.3 BC091509 mRNA Translation: AAH91509.1 AK075350 mRNA Translation: BAC11562.1 Different initiation. |
CCDSi | CCDS30801.1 |
RefSeqi | NP_848549.3, NM_178454.4 XP_005270526.1, XM_005270469.2 XP_005270527.1, XM_005270470.1 XP_011539009.1, XM_011540707.1 XP_011539010.1, XM_011540708.1 |
Genome annotation databases
Ensembli | ENST00000286692; ENSP00000286692; ENSG00000156171 ENST00000539140; ENSP00000437718; ENSG00000156171 |
GeneIDi | 128338 |
KEGGi | hsa:128338 |
UCSCi | uc001ead.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY336747 mRNA Translation: AAR02410.1 EF710624 mRNA Translation: ABR27678.1 AY358492 mRNA Translation: AAQ88856.1 AL355816 Genomic DNA No translation available. CH471122 Genomic DNA Translation: EAW56464.1 BC047025 mRNA Translation: AAH47025.3 BC091509 mRNA Translation: AAH91509.1 AK075350 mRNA Translation: BAC11562.1 Different initiation. |
CCDSi | CCDS30801.1 |
RefSeqi | NP_848549.3, NM_178454.4 XP_005270526.1, XM_005270469.2 XP_005270527.1, XM_005270470.1 XP_011539009.1, XM_011540707.1 XP_011539010.1, XM_011540708.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 126108, 5 interactors |
IntActi | Q6UX65, 5 interactors |
STRINGi | 9606.ENSP00000286692 |
Protein family/group databases
TCDBi | 8.A.113.1.9, the tentonin or tmem150 (tmem150) family |
PTM databases
iPTMneti | Q6UX65 |
PhosphoSitePlusi | Q6UX65 |
SwissPalmi | Q6UX65 |
Genetic variation databases
BioMutai | DRAM2 |
DMDMi | 74749415 |
Proteomic databases
EPDi | Q6UX65 |
jPOSTi | Q6UX65 |
MassIVEi | Q6UX65 |
MaxQBi | Q6UX65 |
PaxDbi | Q6UX65 |
PeptideAtlasi | Q6UX65 |
PRIDEi | Q6UX65 |
ProteomicsDBi | 67568 |
Protocols and materials databases
Antibodypediai | 20104, 70 antibodies |
Genome annotation databases
Ensembli | ENST00000286692; ENSP00000286692; ENSG00000156171 ENST00000539140; ENSP00000437718; ENSG00000156171 |
GeneIDi | 128338 |
KEGGi | hsa:128338 |
UCSCi | uc001ead.5, human |
Organism-specific databases
CTDi | 128338 |
DisGeNETi | 128338 |
GeneCardsi | DRAM2 |
HGNCi | HGNC:28769, DRAM2 |
HPAi | ENSG00000156171, Low tissue specificity |
MalaCardsi | DRAM2 |
MIMi | 613360, gene 616502, phenotype |
neXtProti | NX_Q6UX65 |
OpenTargetsi | ENSG00000156171 |
Orphaneti | 1872, Cone rod dystrophy |
PharmGKBi | PA165751270 |
VEuPathDBi | HostDB:ENSG00000156171.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4320, Eukaryota |
GeneTreei | ENSGT01000000214507 |
HOGENOMi | CLU_059992_2_2_1 |
InParanoidi | Q6UX65 |
OMAi | LVQKLHW |
OrthoDBi | 1199230at2759 |
PhylomeDBi | Q6UX65 |
TreeFami | TF314508 |
Enzyme and pathway databases
PathwayCommonsi | Q6UX65 |
SIGNORi | Q6UX65 |
Miscellaneous databases
BioGRID-ORCSi | 128338, 5 hits in 875 CRISPR screens |
ChiTaRSi | DRAM2, human |
GenomeRNAii | 128338 |
Pharosi | Q6UX65, Tbio |
PROi | PR:Q6UX65 |
RNActi | Q6UX65, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000156171, Expressed in small intestine Peyer's patch and 214 other tissues |
ExpressionAtlasi | Q6UX65, baseline and differential |
Genevisiblei | Q6UX65, HS |
Family and domain databases
InterProi | View protein in InterPro IPR032990, DRAM2 IPR019402, Frag1/DRAM/Sfk1 |
PANTHERi | PTHR21324:SF10, PTHR21324:SF10, 1 hit |
Pfami | View protein in Pfam PF10277, Frag1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DRAM2_HUMAN | |
Accessioni | Q6UX65Primary (citable) accession number: Q6UX65 Secondary accession number(s): B3SUG9 Q8NBQ4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | July 5, 2004 | |
Last modified: | February 10, 2021 | |
This is version 125 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families