Gene Name	HLA-B
Gene ID	3106
Gene Full Name	major histocompatibility complex, class I, B
Gene Alias	AS|B-4901|HLAB
Transcripts	ENSG00000234745
Virus	HIV
Gene Type	protein-coding
HPA Location Info
Membrane Info	Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Uniport_ID	P01889
HGNC ID	HGNC:4932
OMIM ID	142830
Summary	HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]

Mutation Table: if previous studies reported that target gene was related to virus gene/region/protein, the information in this literature was listed in this section

ID	PMID	Mutation	Gene/Protein/Region	Encoding Gene/Protein	Disease	Description	Detail
1	30201008	A118P	Gag	Gag	HIV Infections	G R S I C L T	View
2	30201008	A119T	Gag	Gag	HIV Infections	G R S I C L T	View
3	30201008	A146P	Gag	Gag	HIV Infections	G R S I C L T	View
4	30201008	A146S	Gag	Gag	HIV Infections	G R S I C L T	View
5	30201008	A163G	Gag	Gag	HIV Infections	G R S I C L T	View
6	30201008	A340G	Gag	Gag	HIV Infections	G R S I C L T	View
7	30201008	A83S	Gag	Gag	HIV Infections	G R S I C L T	View
8	30201008	C87Y	Gag	Gag	HIV Infections	G R S I C L T	View
9	30201008	D121A	Gag	Gag	HIV Infections	G R S I C L T	View
10	30201008	D295N	Gag	Gag	HIV Infections	G R S I C L T	View
11	30201008	E182L	Gag	Gag	HIV Infections	G R S I C L T	View
12	30201008	E182Q	Gag	Gag	HIV Infections	G R S I C L T	View
13	30201008	E40Q	Gag	Gag	HIV Infections	G R S I C L T	View
14	30201008	F191V	Gag	Gag	HIV Infections	G R S I C L T	View
15	30201008	G123K	Gag	Gag	HIV Infections	G R S I C L T	View
16	30201008	G12R	Gag	Gag	HIV Infections	G R S I C L T	View
17	30201008	G140R	Gag	Gag	HIV Infections	G R S I C L T	View
18	30201008	H102N	Gag	Gag	HIV Infections	G R S I C L T	View
19	30201008	H102Y	Gag	Gag	HIV Infections	G R S I C L T	View
20	30201008	H116N	Gag	Gag	HIV Infections	G R S I C L T	View
21	30201008	H124N	Gag	Gag	HIV Infections	G R S I C L T	View
22	30201008	H124S	Gag	Gag	HIV Infections	G R S I C L T	View
23	30201008	H89Y	Nef	Nef	HIV Infections	G R S I C L T	View
24	30201008	I101V	Gag	Gag	HIV Infections	G R S I C L T	View
25	30201008	I114V	Gag	Gag	HIV Infections	G R S I C L T	View
26	30201008	I138L	Gag	Gag	HIV Infections	G R S I C L T	View
27	30201008	I147L	Gag	Gag	HIV Infections	G R S I C L T	View
28	30201008	I223V	Gag	Gag	HIV Infections	G R S I C L T	View
29	30201008	I34L	Gag	Gag	HIV Infections	G R S I C L T	View
30	30201008	K26R	Gag	Gag	HIV Infections	G R S I C L T	View
31	30201008	K28Q	Gag	Gag	HIV Infections	G R S I C L T	View
32	30201008	K28R	Gag	Gag	HIV Infections	G R S I C L T	View
33	30201008	K335R	Gag	Gag	HIV Infections	G R S I C L T	View
34	30201008	K92R	Gag	Gag	HIV Infections	G R S I C L T	View
35	30201008	L87I	Gag	Gag	HIV Infections	G R S I C L T	View
36	30201008	M79I	Gag	Gag	HIV Infections	G R S I C L T	View
37	30201008	N126R	Gag	Gag	HIV Infections	G R S I C L T	View
38	30201008	N126S	Gag	Gag	HIV Infections	G R S I C L T	View
39	30201008	N271T	Gag	Gag	HIV Infections	G R S I C L T	View
40	30201008	P129Q	Gag	Gag	HIV Infections	G R S I C L T	View
41	30201008	Q127H	Gag	Gag	HIV Infections	G R S I C L T	View
42	30201008	R105K	Gag	Gag	HIV Infections	G R S I C L T	View
43	30201008	R188G	Gag	Gag	HIV Infections	G R S I C L T	View
44	30201008	R39K	Gag	Gag	HIV Infections	G R S I C L T	View
45	30201008	R43Q	Gag	Gag	HIV Infections	G R S I C L T	View
46	30201008	R76K	Gag	Gag	HIV Infections	G R S I C L T	View
47	30201008	S125R	Gag	Gag	HIV Infections	G R S I C L T	View
48	30201008	S165N	Gag	Gag	HIV Infections	G R S I C L T	View
49	30201008	S173T	Gag	Gag	HIV Infections	G R S I C L T	View
50	30201008	S278C	Gag	Gag	HIV Infections	G R S I C L T	View
51	30201008	S310T	Gag	Gag	HIV Infections	G R S I C L T	View
52	30201008	T122A	Gag	Gag	HIV Infections	G R S I C L T	View
53	30201008	T15A	Gag	Gag	HIV Infections	G R S I C L T	View
54	30201008	T242N	Gag	Gag	HIV Infections	G R S I C L T	View
55	30201008	T280A	Gag	Gag	HIV Infections	G R S I C L T	View
56	30201008	T280I	Gag	Gag	HIV Infections	G R S I C L T	View
57	30201008	T280S	Gag	Gag	HIV Infections	G R S I C L T	View
58	30201008	T280V	Gag	Gag	HIV Infections	G R S I C L T	View
59	30201008	T71R	Gag	Gag	HIV Infections	G R S I C L T	View
60	30201008	V10K	Gag	Gag	HIV Infections	G R S I C L T	View
61	30201008	V10R	Gag	Gag	HIV Infections	G R S I C L T	View
62	30201008	V133I	Nef	Nef	HIV Infections	G R S I C L T	View
63	30201008	V133P	Gag	Gag	HIV Infections	G R S I C L T	View
64	30201008	V133T	Nef	Nef	HIV Infections	G R S I C L T	View
65	30201008	V148I	Gag	Gag	HIV Infections	G R S I C L T	View
66	30201008	V168T	Gag	Gag	HIV Infections	G R S I C L T	View
67	30201008	V191I	Gag	Gag	HIV Infections	G R S I C L T	View
68	30201008	V35I	Gag	Gag	HIV Infections	G R S I C L T	View
69	30201008	V46I	Gag	Gag	HIV Infections	G R S I C L T	View
70	30201008	V82I	Gag	Gag	HIV Infections	G R S I C L T	View
71	30201008	V82L	Gag	Gag	HIV Infections	G R S I C L T	View
72	30201008	V85I	Gag	Gag	HIV Infections	G R S I C L T	View
73	30201008	V85L	Gag	Gag	HIV Infections	G R S I C L T	View
74	30201008	Y135F	Gag	Gag	HIV Infections	G R S I C L T	View
75	30201008	Y81F	Nef	Nef	HIV Infections	G R S I C L T	View
76	34069929	I54V	PR	gag-pol	HIV Infections	D G C L T	View
77	34069929	K103N	RT	gag-pol	HIV Infections	D G C L T	View
78	34069929	K65R	RT	gag-pol	HIV Infections	D G C L T	View
79	34069929	M184V	RT	gag-pol	HIV Infections	D G C L T	View
80	34069929	M41L	RT	gag-pol	HIV Infections	D G C L T	View
81	34069929	M46I	PR	gag-pol	HIV Infections	D G C L T	View
82	34069929	V82A	PR	gag-pol	HIV Infections	D G C L T	View

Data ID	Experiment type	Sample number	Platform
C   GSE221688	Chip-seq;scATAC-Seq;scRNA-Seq	12	Illumina NovaSeq 6000 (Homo sapiens)
GSE99737	RNA-seq	9	Illumina HiSeq 2500 (Homo sapiens)
GSE144332	RNA-seq	75	NextSeq 550 (Homo sapiens)
GSE157829	scRNA-seq	7	Illumina HiSeq 2500 (Homo sapiens)
C   GSE165705	Chip-seq	30	Illumina NovaSeq 6000 (Homo sapiens)
GSE164264	RNA-seq	6	BGISEQ-500 (Homo sapiens)
C   GSE30738	Chip-seq	2	Illumina Genome Analyzer II (Homo sapiens)
GSE262621	RNA-seq	70	Illumina NovaSeq 6000 (Homo sapiens)
S   GSE202410	scRNA-seq	24	Illumina HiSeq 4000 (Homo sapiens)
GSE128121	RNA-seq	16	Illumina HiSeq 4000 (Homo sapiens)
GSE162914	RNA-seq	211	Illumina HiSeq 2500 (Homo sapiens)
GSE187515	scRNA-seq	104	Illumina MiSeq (Homo sapiens);Illumina HiSeq 4000 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE279982	Methylation profiling (Array)	576	Infinium MethylationEPIC
C   GSE144329	ATAC-seq	96	NextSeq 550 (Homo sapiens)
GSE205204	RNA-seq	14	Illumina NovaSeq 6000 (Homo sapiens)
GSE125686	RNA-seq	62	Illumina HiSeq 2000 (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens);Illumina NextSeq 500 (Homo sapiens)
GSE198339	scRNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
S   GSE233747	scRNA-seq	40	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE220859	Chip-seq	11	Illumina NovaSeq 6000 (Homo sapiens)
GSE165708	RNA-seq	100	Illumina HiSeq 4000 (Homo sapiens)
C   GSE211651	Chip-seq;RNA-seq;PRO-seq	39	Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
S   GSE198809	scRNA-seq	46	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE100376	ATAC-seq	24	Illumina NextSeq 500 (Homo sapiens)
GSE167211	RNA-seq	1	Illumina HiSeq 2000 (Homo sapiens)
GSE165132	RNA-seq	56	NextSeq 550 (Homo sapiens)
GSE228078	scRNA-seq	12	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE100266	ATAC-seq;Chip-seq;RNA-seq	32	Illumina HiSeq 2500 (Homo sapiens)
C   GSE165703	ATAC-seq	82	Illumina HiSeq 4000 (Homo sapiens)
S   GSE148796	scRNA-seq	4	Illumina NextSeq 500 (Homo sapiens)
GSE246082	RNA-seq	6	Illumina HiSeq 4000 (Homo sapiens)

• scRNA data
• Genome binding/occupancy profiling

When the query gene is differentially changed in the dataset, a feature/violin plot will be displayed.

> Dataset: GSE202410 - Gene expression in cell subsets
> Dataset: GSE233747 - Gene expression in cell subsets
> Dataset: GSE198809 - Gene expression in cell subsets
> Dataset: GSE148796 - Gene expression in cell subsets