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JOSD2 Josephin domain containing 2 [ Homo sapiens (human) ]

Gene ID: 126119, updated on 1-Jun-2020

Summary

Official Symbol
JOSD2provided by HGNC
Official Full Name
Josephin domain containing 2provided by HGNC
Primary source
HGNC:HGNC:28853
See related
Ensembl:ENSG00000161677 MIM:615324
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
SBBI54
Summary
This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in fat (RPKM 7.4), stomach (RPKM 6.8) and 25 other tissues See more
Orthologs

Genomic context

See JOSD2 in Genome Data Viewer
Location:
19q13.33
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (50505997..50511355, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51009254..51014612, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene myosin binding protein C2 Neighboring gene family with sequence similarity 71 member E1 Neighboring gene ER membrane protein complex subunit 10 Neighboring gene aspartate dehydrogenase domain containing Neighboring gene leucine rich repeat containing 4B

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ29018

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
josephin-2
Names
josephin domain-containing protein 2
NP_001257568.1
NP_001257569.1
NP_001257570.1
NP_001257615.1
NP_612207.1
XP_011524736.1

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_001270639.2NP_001257568.1  josephin-2 isoform 1

    See identical proteins and their annotated locations for NP_001257568.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 4 and 5 encode the same isoform (1).
    Source sequence(s)
    BC062416, HY056543
    Consensus CDS
    CCDS12797.1
    UniProtKB/Swiss-Prot
    Q8TAC2
    UniProtKB/TrEMBL
    A0A024R4G2
    Related
    ENSP00000468956.1, ENST00000598418.5
    Conserved Domains (1) summary
    pfam02099
    Location:23166
    Josephin; Josephin
  2. NM_001270640.1NP_001257569.1  josephin-2 isoform 1

    See identical proteins and their annotated locations for NP_001257569.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 4 and 5 encode the same isoform (1).
    Source sequence(s)
    AC008743, BC051380, BM970016, HY056543
    Consensus CDS
    CCDS12797.1
    UniProtKB/Swiss-Prot
    Q8TAC2
    UniProtKB/TrEMBL
    A0A024R4G2, Q7Z7N5
    Related
    ENSP00000472116.1, ENST00000601423.5
    Conserved Domains (1) summary
    pfam02099
    Location:23166
    Josephin; Josephin
  3. NM_001270641.1NP_001257570.1  josephin-2 isoform 2

    See identical proteins and their annotated locations for NP_001257570.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK131052, BM970016, HY056543
    Consensus CDS
    CCDS59413.1
    UniProtKB/Swiss-Prot
    Q8TAC2
    Related
    ENSP00000468860.1, ENST00000595669.5
    Conserved Domains (1) summary
    pfam02099
    Location:19124
    Josephin; Josephin
  4. NM_001270686.2NP_001257615.1  josephin-2 isoform 1

    See identical proteins and their annotated locations for NP_001257615.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 4 and 5 encode the same isoform (1).
    Source sequence(s)
    AC008743, AF247787, BM970016, BP328576
    Consensus CDS
    CCDS12797.1
    UniProtKB/Swiss-Prot
    Q8TAC2
    UniProtKB/TrEMBL
    A0A024R4G2
    Related
    ENSP00000470628.1, ENST00000594350.1
    Conserved Domains (1) summary
    pfam02099
    Location:23166
    Josephin; Josephin
  5. NM_138334.4NP_612207.1  josephin-2 isoform 1

    See identical proteins and their annotated locations for NP_612207.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 4 and 5 encode the same isoform (1).
    Source sequence(s)
    AC008743, AF247787, BM970016, BP328576
    Consensus CDS
    CCDS12797.1
    UniProtKB/Swiss-Prot
    Q8TAC2
    UniProtKB/TrEMBL
    A0A024R4G2
    Conserved Domains (1) summary
    pfam02099
    Location:23166
    Josephin; Josephin

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    50505997..50511355 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526434.2XP_011524736.1  josephin-2 isoform X1

    See identical proteins and their annotated locations for XP_011524736.1

    UniProtKB/Swiss-Prot
    Q8TAC2
    UniProtKB/TrEMBL
    A0A024R4G2
    Conserved Domains (1) summary
    pfam02099
    Location:23166
    Josephin; Josephin
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