CECR1

Protein-coding gene in the species Homo sapiens

ADA2

Available structures

Human UniProt search: PDBe RCSB

List of PDB id codes
3LGD, 3LGG

Identifiers

Aliases

ADA2 , ADGF, IDGFL, PAN, SNEDS, CECR1, cat eye syndrome chromosome region, candidate 1, adenosine deaminase 2, VAIHS

External IDs

OMIM: 607575; HomoloGene: 81852; GeneCards: ADA2; OMA:ADA2 - orthologs

Gene location (Human)
Chromosome 22 (human)
Chr.	Chromosome 22 (human) ^[1]
Chromosome 22 (human) Genomic location for ADA2 Genomic location for ADA2
Band	22q11.1	Start	17,178,790 bp ^[1]
Band	22q11.1	End	17,258,235 bp ^[1]

RNA expression pattern

Bgee

Human	Mouse (ortholog)
Top expressed in monocyte granulocyte bone marrow cells right uterine tube spleen blood lymph node thymus sperm gallbladder	n/a
More reference expression data

BioGPS

More reference expression data

Gene ontology
Molecular function	deaminase activity zinc ion binding adenosine receptor binding adenosine deaminase activity heparin binding hydrolase activity protein homodimerization activity metal ion binding proteoglycan binding growth factor activity
Cellular component	extracellular region extracellular space azurophil granule lumen cytosol
Biological process	multicellular organism development neutrophil degranulation hypoxanthine salvage inosine biosynthetic process adenosine catabolic process regulation of signaling receptor activity signal transduction
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


51816


n/a

Ensembl


ENSG00000093072


n/a

UniProt


Q9NZK5


n/a

RefSeq (mRNA)

NM_001282225 NM_001282226 NM_001282227 NM_001282228 NM_001282229
NM_017424 NM_177405

n/a

RefSeq (protein)

NP_001269154 NP_001269155 NP_001269156 NP_001269157 NP_001269158
NP_803124

n/a

Location (UCSC)

Chr 22: 17.18 – 17.26 Mb

n/a

PubMed search

^[2]

n/a

Wikidata

View/Edit Human

Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the CECR1 gene.^[3]^[4]

This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene.^[4]

References

[edit ]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000093072 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Riazi MA, Brinkman-Mills P, Nguyen T, Pan H, Phan S, Ying F, Roe BA, Tochigi J, Shimizu Y, Minoshima S, Shimizu N, Buchwald M, McDermid HE (May 2000). "The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome". Genomics. 64 (3): 277–85. doi:10.1006/geno.1999.6099. PMID 10756095.
^ ^a ^b Hoppe, W.; Gassmann, J.; Hunsmann, N.; Schramm, H. J.; Sturm, M. (August 1975). "Comments on the paper "Relevance of three-dimensional reconstructions of stain distributions for structural analysis of biomolecules"". Hoppe-Seyler's Zeitschrift für Physiologische Chemie. 356 (8): 1317–1320. doi:10.1515/bchm2.1975.356.2.1317. ISSN 0018-4888. PMID 51816. Archived from the original on 2010年12月05日. Retrieved 2017年08月30日.