C4B_2 complement component 4B (Chido/Rodgers blood group), copy 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C4B_2provided by HGNC
Official Full Name: complement component 4B (Chido/Rodgers blood group), copy 2provided by HGNC
Primary source: HGNC:HGNC:42398
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
Summary: This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. This GeneID and its associated RefSeq record represent a second copy of C4B found on ALT_REF_LOCI_7. [provided by RefSeq, Jul 2011]
Annotation information: Annotation category: only annotated on alternate loci in reference assembly
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Genomic context

Location:: 6p21.3 alternate reference locus

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6 (ALT_REF_LOCI_7)	NT_167249.2 (3283246..3303870)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6 Unlocalized Scaffold (ALT_REF_LOCI_7)	NT_167249.1 (3282544..3303168)

NT_167249.2 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:642029 (e-PCR)
- UniSTS:158557

G54031 (e-PCR)
- UniSTS:109413

SHGC-12566 (e-PCR)
- UniSTS:27784

SHGC-31623 (e-PCR)
- UniSTS:9364

RH36425 (e-PCR)
- UniSTS:3021

RH1519 (e-PCR)
- UniSTS:42455

RH46798 (e-PCR)
- UniSTS:42456

General protein information

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Preferred Names: complement C4-B-like

Names: complement component 4B (Chido blood group), copy 2

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_001242823.2 → NP_001229752.1 complement C4-B-like preproprotein

See identical proteins and their annotated locations for NP_001229752.1

Status: REVIEWED

Source sequence(s)

BX679671

UniProtKB/TrEMBL

A0A0G2JPR0

Conserved Domains (8) summary

cd00017
Location:686 → 750

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:996 → 1315

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 ...

cd03584
Location:1588 → 1742

NTR_complement_C4; NTR/C345C domain, complement C4 subfamily; The NTR domain found in complement C4 is also known as the C345C domain because it occurs at the C-terminus of complement C3, C4 and C5. Complement C4 is a key player in the activation of the component classical ...

pfam00207
Location:782 → 869

A2M; Alpha-2-macroglobulin family

pfam01835
Location:141 → 233

A2M_N; MG2 domain

pfam07677
Location:1481 → 1570

A2M_recep; A-macroglobulin receptor

pfam07678
Location:1051 → 1317

A2M_comp; A-macroglobulin complement component

pfam07703
Location:478 → 610

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