C4a complement C4A (Rodgers blood group) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: C4aprovided by MGI
Official Full Name: complement C4A (Rodgers blood group)provided by MGI
Primary source: MGI:MGI:98320
See related: Ensembl:ENSMUSG00000015451 AllianceGenome:MGI:98320
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: C4; C4b; Slp; SlpA
Summary: Predicted to enable carbohydrate binding activity and complement component C1q complex binding activity. Acts upstream of or within complement activation. Located in extracellular space. Human ortholog(s) of this gene implicated in autistic disorder; autoimmune disease (multiple); complement deficiency (multiple); and renal cell carcinoma. Orthologous to human C4A (complement C4A (Chido/Rodgers blood group)) and C4B (complement C4B (Chido/Rodgers blood group)). [provided by Alliance of Genome Resources, Oct 2024]
Annotation information: Annotation category: suggests misassembly; Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Biased expression in liver adult (RPKM 55.0), subcutaneous fat pad adult (RPKM 18.7) and 10 other tissues See more
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Genomic context

Location:: 17 B1; 17 18.37 cM

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (35028069..35042436, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (34809092..34823460, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Elevated expression of complement C4 in the mouse prefrontal cortex causes schizophrenia-associated phenotypes.
Title: Elevated expression of complement C4 in the mouse prefrontal cortex causes schizophrenia-associated phenotypes.
Complement C4A Regulates Autoreactive B Cells in Murine Lupus.
Title: Complement C4A Regulates Autoreactive B Cells in Murine Lupus.
Overexpression of schizophrenia susceptibility factor human complement C4A promotes excessive synaptic loss and behavioral changes in mice.
Title: Overexpression of schizophrenia susceptibility factor human complement C4A promotes excessive synaptic loss and behavioral changes in mice.
Increased expression of the schizophrenia-associated gene C4 causes aberrant circuit wiring in the developing prefrontal cortex and leads to deficits in juvenile and adult social behavior, suggesting that altered C4 expression contributes directly to schizophrenia pathogenesis.
Title: Increased expression of schizophrenia-associated gene C4 leads to hypoconnectivity of prefrontal cortex and reduced social interaction.
C4 mediated synapse elimination during postnatal development
Title: Schizophrenia risk from complex variation of complement component 4.
multiple mechanisms of male-specific gene expression
Title: Multiple mechanisms of male-specific gene expression: lessons from the mouse sex-limited protein (Slp) gene.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

C4 (e-PCR), detects polymorphism
- UniSTS:257038

D17Mit33 (e-PCR), detects polymorphism
- UniSTS:128082

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables carbohydrate binding	ISO Inferred from Sequence Orthology more info
enables complement binding	ISO Inferred from Sequence Orthology more info
enables complement component C1q complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within complement activation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in axon	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in symbiont cell surface	ISO Inferred from Sequence Orthology more info
located_in synapse	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sex-limited protein

Names: Complement C4-B; complement component 4A (Rodgers blood group)

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)

NM_011413.2 → NP_035543.2 sex-limited protein precursor

See identical proteins and their annotated locations for NP_035543.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the functional non-reference strain allele and encodes the full-length protein.

Source sequence(s)

AK129017, AW987669, M12384

UniProtKB/TrEMBL

V9GZQ6

Conserved Domains (8) summary

cd00017
Location:684 → 752

ANATO; Anaphylatoxin homologous domain; C3a, C4a and C5a anaphylatoxins are protein fragments generated enzymatically in serum during activation of complement molecules C3, C4, and C5. They induce smooth muscle contraction. These fragments are homologous to ...

cd02896
Location:989 → 1308

complement_C3_C4_C5; Proteins similar to C3, C4 and C5 of vertebrate complement. The vertebrate complement system, comprised of a large number of distinct plasma proteins, is an effector of both the acquired and innate immune systems. The point of convergence of the ...

pfam00207
Location:777 → 864

A2M; Alpha-2-macroglobulin family

pfam01835
Location:139 → 231

A2M_N; MG2 domain

pfam07677
Location:1472 → 1561

A2M_recep; A-macroglobulin receptor

pfam07678
Location:1044 → 1310

A2M_comp; A-macroglobulin complement component

pfam07703
Location:475 → 608

A2M_N_2; Alpha-2-macroglobulin family N-terminal region

cl02512
Location:1579 → 1733

NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...

RNA

NR_160726.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1, non-coding) includes a premature stop codon and represents the non-functional allele, as in the C57BL/6 reference genome.

Source sequence(s)

CT573030

Related

ENSMUST00000160679.9