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The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
CD163 (CD163 Molecule) is a Protein Coding gene. Diseases associated with CD163 include Rosai-Dorfman Disease and Non-Langerhans-Cell Histiocytosis. Among its related pathways are Hematopoietic Stem Cells and Lineage-specific Markers and Binding and Uptake of Ligands by Scavenger Receptors. Gene Ontology (GO) annotations related to this gene include scavenger receptor activity. An important paralog of this gene is CD163L1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH12J007500 | Promoter | 1 | EPDnew Ensembl | 600.7 | +1.6 | 1592 | 3.4 | CTCF PRDM1 ZNF600 NFE2 SPI1 MAFK | CD163 ATN1 lnc-APOBEC1-2 CD163L1 NONHSAG010376.2 | |
GH12J007570 | Enhancer | 0.5 | Ensembl | 6.7 | -68.8 | -68808 | 5.4 | SCRT2 MAFF ZNF146 MAFK MAX SP1 | CD163 LRRC23 GAPDHP31 piR-54764-102 APOBEC1 | |
GH12J007555 | Enhancer | 0.8 | FANTOM5 ENCODE | 4 | -52.5 | -52461 | 1.6 | LEF1 GABPA MEF2D CEBPG ATF3 ZNF660 ATF1 GABPB1 NFE2L2 | CD163L1 CD163 PEX5 SLC2A3 MN309174-098 piR-45932-021 lnc-DPPA3-2 APOBEC1 | |
GH12J007581 | Enhancer | 0.3 | Ensembl | 5.7 | -77.9 | -77908 | 0.8 | HNF4A | CD163 LRRC23 piR-54764-102 GAPDHP31 APOBEC1 | |
GH12J007512 | Enhancer | 0.9 | FANTOM5 ENCODE | 1.7 | -8.9 | -8915 | 0.3 | REST JUND SP1 CEBPA CEBPB ZBTB26 NFE2 ATF3 FOS YY1 | PEX5 SLC2A3 CD163 lnc-ACSM4-4 piR-59297-108 APOBEC1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005044 | scavenger receptor activity | TAS,NAS | 8370408 |
GO:0005515 | protein binding | IPI | 15479433 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 8370408 |
GO:0009897 | external side of plasma membrane | IDA | 24942581 |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006897 | endocytosis | IEA | -- |
GO:0006898 | receptor-mediated endocytosis | TAS | -- |
GO:0006953 | acute-phase response | IEA | -- |
GO:0006954 | inflammatory response | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD163 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD163 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD163 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd163 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cd163 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-21h14.14 31 |
|
ManyToMany | |
si:dkey-21h14.10 31 |
|
ManyToMany | |||
si:dkey-21h14.9 31 |
|
ManyToMany | |||
si:dkey-21h14.11 31 |
|
ManyToMany | |||
si:dkey-21h14.8 31 |
|
ManyToMany | |||
si:ch211-161n3.5 31 |
|
ManyToMany | |||
si:ch211-161n3.4 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711920 | Likely Benign: not provided | 7,479,969(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
728962 | Benign: not provided | 7,485,112(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
750324 | Likely Benign: not provided | 7,487,822(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
775305 | Benign: not provided | 7,501,130(-) | A/T | INTRON_VARIANT | |
776691 | Benign: not provided | 7,485,276(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1350n100 | CNV | loss | 25217958 |
esv3303553 | CNV | mobile element insertion | 20981092 |
esv3399549 | CNV | insertion | 20981092 |
esv3402244 | CNV | insertion | 20981092 |
nsv525458 | CNV | loss | 19592680 |
nsv557269 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
rosai-dorfman disease |
|
|
non-langerhans-cell histiocytosis |
|
|
necrobiosis lipoidica |
|
|
adult xanthogranuloma |
|
|
fibrous histiocytoma |
|