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SYNJ2BP synaptojanin 2 binding protein [ Homo sapiens (human) ]

Gene ID: 55333, updated on 8-Dec-2022

Summary

Official Symbol
SYNJ2BPprovided by HGNC
Official Full Name
synaptojanin 2 binding proteinprovided by HGNC
Primary source
HGNC:HGNC:18955
See related
Ensembl:ENSG00000213463 MIM:609411; AllianceGenome:HGNC:18955
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
ARIP2; OMP25
Summary
Predicted to enable type II activin receptor binding activity. Involved in several processes, including negative regulation of endothelial cell migration; negative regulation of sprouting angiogenesis; and regulation of signal transduction. Located in mitochondrion. Is integral component of mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 23.3), duodenum (RPKM 20.4) and 24 other tissues See more
Orthologs
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Genomic context

See SYNJ2BP in Genome Data Viewer
Location:
14q24.2
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (70366499..70417090, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (64572381..64623200, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (70833216..70883807, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene SYNJ2BP-COX16 readthrough Neighboring gene cytochrome c oxidase assembly factor COX16 Neighboring gene uncharacterized LOC124903340 Neighboring gene RNA, U2 small nuclear 51, pseudogene Neighboring gene uncharacterized LOC124903339 Neighboring gene ADAM metallopeptidase domain 21 Neighboring gene ADAM metallopeptidase domain 20 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

EBI GWAS Catalog

Description
Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough SYNJ2BP-COX16

Readthrough gene: SYNJ2BP-COX16, Included gene: COX16

Homology

Clone Names

  • FLJ11271, FLJ41973

General protein information

Preferred Names
synaptojanin-2-binding protein
Names
activin receptor interacting protein 5
mitochondrial outer membrane protein 25

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_018373.3NP_060843.2  synaptojanin-2-binding protein

    See identical proteins and their annotated locations for NP_060843.2

    Status: VALIDATED

    Source sequence(s)
    AL356804, BC007704, BP195583, BQ775922
    Consensus CDS
    CCDS9803.1
    UniProtKB/Swiss-Prot
    P57105, Q96IA4
    UniProtKB/TrEMBL
    A0A024R670
    Related
    ENSP00000256366.4, ENST00000256366.6
    Conserved Domains (1) summary
    cd00992
    Location:1397
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    70366499..70417090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    64572381..64623200 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)