Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	11148
Gene name	HHLA2 member of B7 family
Gene symbol	HHLA2
Synonyms (NCBI Gene)	B7-H5B7-H7B7H7B7y
Chromosome	3
Chromosome location	3q13.13
Summary	This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results i

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Show/Hide all (138)

miRTarBase ID	miRNA	Experiments	Reference
MIRT713854	hsa-miR-3133	HITS-CLIP	19536157
MIRT713853	hsa-miR-548b-3p	HITS-CLIP	19536157
MIRT713852	hsa-miR-1248	HITS-CLIP	19536157
MIRT713851	hsa-miR-6892-5p	HITS-CLIP	19536157
MIRT713850	hsa-miR-520d-5p	HITS-CLIP	19536157
MIRT713849	hsa-miR-524-5p	HITS-CLIP	19536157
MIRT446275	hsa-miR-548n	PAR-CLIP	22100165
MIRT446274	hsa-miR-548l	PAR-CLIP	22100165
MIRT446273	hsa-miR-654-3p	PAR-CLIP	22100165
MIRT446272	hsa-miR-5190	PAR-CLIP	22100165
MIRT446271	hsa-miR-4635	PAR-CLIP	22100165
MIRT446270	hsa-miR-219b-5p	PAR-CLIP	22100165
MIRT446269	hsa-miR-4697-3p	PAR-CLIP	22100165
MIRT446268	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT446267	hsa-miR-1257	PAR-CLIP	22100165
MIRT446266	hsa-miR-4276	PAR-CLIP	22100165
MIRT446275	hsa-miR-548n	PAR-CLIP	22100165
MIRT446274	hsa-miR-548l	PAR-CLIP	22100165
MIRT446273	hsa-miR-654-3p	PAR-CLIP	22100165
MIRT446272	hsa-miR-5190	PAR-CLIP	22100165
MIRT446271	hsa-miR-4635	PAR-CLIP	22100165
MIRT446270	hsa-miR-219b-5p	PAR-CLIP	22100165
MIRT446269	hsa-miR-4697-3p	PAR-CLIP	22100165
MIRT446268	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT446267	hsa-miR-1257	PAR-CLIP	22100165
MIRT446266	hsa-miR-4276	PAR-CLIP	22100165
MIRT713854	hsa-miR-3133	HITS-CLIP	19536157
MIRT713853	hsa-miR-548b-3p	HITS-CLIP	19536157
MIRT713852	hsa-miR-1248	HITS-CLIP	19536157
MIRT713851	hsa-miR-6892-5p	HITS-CLIP	19536157
MIRT713850	hsa-miR-520d-5p	HITS-CLIP	19536157
MIRT713849	hsa-miR-524-5p	HITS-CLIP	19536157
MIRT446275	hsa-miR-548n	PAR-CLIP	22100165
MIRT446274	hsa-miR-548l	PAR-CLIP	22100165
MIRT446273	hsa-miR-654-3p	PAR-CLIP	22100165
MIRT446272	hsa-miR-5190	PAR-CLIP	22100165
MIRT446271	hsa-miR-4635	PAR-CLIP	22100165
MIRT446270	hsa-miR-219b-5p	PAR-CLIP	22100165
MIRT446269	hsa-miR-4697-3p	PAR-CLIP	22100165
MIRT446268	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT446267	hsa-miR-1257	PAR-CLIP	22100165
MIRT446266	hsa-miR-4276	PAR-CLIP	22100165
MIRT446275	hsa-miR-548n	PAR-CLIP	22100165
MIRT446274	hsa-miR-548l	PAR-CLIP	22100165
MIRT446273	hsa-miR-654-3p	PAR-CLIP	22100165
MIRT446272	hsa-miR-5190	PAR-CLIP	22100165
MIRT446271	hsa-miR-4635	PAR-CLIP	22100165
MIRT446270	hsa-miR-219b-5p	PAR-CLIP	22100165
MIRT446269	hsa-miR-4697-3p	PAR-CLIP	22100165
MIRT446268	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT446267	hsa-miR-1257	PAR-CLIP	22100165
MIRT446266	hsa-miR-4276	PAR-CLIP	22100165
MIRT1045067	hsa-miR-1275	CLIP-seq
MIRT1045068	hsa-miR-1587	CLIP-seq
MIRT1045069	hsa-miR-181a	CLIP-seq
MIRT1045070	hsa-miR-181b	CLIP-seq
MIRT1045071	hsa-miR-181c	CLIP-seq
MIRT1045072	hsa-miR-181d	CLIP-seq
MIRT1045073	hsa-miR-196a	CLIP-seq
MIRT1045074	hsa-miR-196b	CLIP-seq
MIRT1045075	hsa-miR-2113	CLIP-seq
MIRT1045076	hsa-miR-2964a-5p	CLIP-seq
MIRT1045077	hsa-miR-3150a-3p	CLIP-seq
MIRT1045078	hsa-miR-3151	CLIP-seq
MIRT1045079	hsa-miR-3175	CLIP-seq
MIRT1045080	hsa-miR-3622a-3p	CLIP-seq
MIRT1045081	hsa-miR-3622b-3p	CLIP-seq
MIRT1045082	hsa-miR-3665	CLIP-seq
MIRT1045083	hsa-miR-3682-5p	CLIP-seq
MIRT1045084	hsa-miR-3691-5p	CLIP-seq
MIRT1045085	hsa-miR-383	CLIP-seq
MIRT1045086	hsa-miR-3973	CLIP-seq
MIRT1045087	hsa-miR-4262	CLIP-seq
MIRT1045088	hsa-miR-4311	CLIP-seq
MIRT1045089	hsa-miR-4417	CLIP-seq
MIRT1045090	hsa-miR-4447	CLIP-seq
MIRT1045091	hsa-miR-4472	CLIP-seq
MIRT1045092	hsa-miR-4492	CLIP-seq
MIRT1045093	hsa-miR-4498	CLIP-seq
MIRT1045094	hsa-miR-4525	CLIP-seq
MIRT1045095	hsa-miR-4656	CLIP-seq
MIRT1045096	hsa-miR-4665-5p	CLIP-seq
MIRT1045097	hsa-miR-4675	CLIP-seq
MIRT1045098	hsa-miR-4723-5p	CLIP-seq
MIRT1045099	hsa-miR-4724-3p	CLIP-seq
MIRT1045100	hsa-miR-4727-3p	CLIP-seq
MIRT1045101	hsa-miR-4741	CLIP-seq
MIRT1045102	hsa-miR-4752	CLIP-seq
MIRT1045103	hsa-miR-4772-5p	CLIP-seq
MIRT1045104	hsa-miR-486-3p	CLIP-seq
MIRT1045105	hsa-miR-491-5p	CLIP-seq
MIRT1045106	hsa-miR-5096	CLIP-seq
MIRT1045107	hsa-miR-513c	CLIP-seq
MIRT1045108	hsa-miR-514b-5p	CLIP-seq
MIRT1045109	hsa-miR-541	CLIP-seq
MIRT1045110	hsa-miR-548k	CLIP-seq
MIRT1045111	hsa-miR-625	CLIP-seq
MIRT1045112	hsa-miR-654-5p	CLIP-seq
MIRT1045113	hsa-miR-657	CLIP-seq
MIRT1045114	hsa-miR-762	CLIP-seq
MIRT1045115	hsa-miR-873	CLIP-seq
MIRT1045116	hsa-miR-935	CLIP-seq
MIRT1045117	hsa-miR-939	CLIP-seq
MIRT2009895	hsa-miR-1	CLIP-seq
MIRT2009896	hsa-miR-206	CLIP-seq
MIRT1045075	hsa-miR-2113	CLIP-seq
MIRT1045076	hsa-miR-2964a-5p	CLIP-seq
MIRT1045077	hsa-miR-3150a-3p	CLIP-seq
MIRT1045078	hsa-miR-3151	CLIP-seq
MIRT2009897	hsa-miR-3165	CLIP-seq
MIRT1045079	hsa-miR-3175	CLIP-seq
MIRT2009898	hsa-miR-3673	CLIP-seq
MIRT1045084	hsa-miR-3691-5p	CLIP-seq
MIRT2009899	hsa-miR-431	CLIP-seq
MIRT1045102	hsa-miR-4752	CLIP-seq
MIRT1045104	hsa-miR-486-3p	CLIP-seq
MIRT1045105	hsa-miR-491-5p	CLIP-seq
MIRT1045107	hsa-miR-513c	CLIP-seq
MIRT1045108	hsa-miR-514b-5p	CLIP-seq
MIRT2009900	hsa-miR-613	CLIP-seq
MIRT1045115	hsa-miR-873	CLIP-seq
MIRT1045116	hsa-miR-935	CLIP-seq
MIRT1045117	hsa-miR-939	CLIP-seq
MIRT2009895	hsa-miR-1	CLIP-seq
MIRT2009896	hsa-miR-206	CLIP-seq
MIRT1045077	hsa-miR-3150a-3p	CLIP-seq
MIRT1045078	hsa-miR-3151	CLIP-seq
MIRT2009897	hsa-miR-3165	CLIP-seq
MIRT1045079	hsa-miR-3175	CLIP-seq
MIRT2009898	hsa-miR-3673	CLIP-seq
MIRT1045104	hsa-miR-486-3p	CLIP-seq
MIRT1045105	hsa-miR-491-5p	CLIP-seq
MIRT1045107	hsa-miR-513c	CLIP-seq
MIRT1045108	hsa-miR-514b-5p	CLIP-seq
MIRT2009900	hsa-miR-613	CLIP-seq
MIRT1045115	hsa-miR-873	CLIP-seq
MIRT1045116	hsa-miR-935	CLIP-seq
MIRT1045117	hsa-miR-939	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001817	Process	Regulation of cytokine production	IBA
GO:0001819	Process	Positive regulation of cytokine production	IDA	23784006
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	23784006, 32296183
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0031295	Process	T cell costimulation	IDA	23784006
GO:0042104	Process	Positive regulation of activated T cell proliferation	IDA	23784006
GO:0050852	Process	T cell receptor signaling pathway	IBA
GO:0050863	Process	Regulation of T cell activation	IEA
GO:1903037	Process	Regulation of leukocyte cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
604371	4905	ENSG00000114455

Q9UM44

Protein name

HERV-H LTR-associating protein 2 (Human endogenous retrovirus-H long terminal repeat-associating protein 2)

Protein function

Through interaction with TMIGD2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07686	V-set	35 → 139	Immunoglobulin V-set domain	Domain
PF07654	C1-set	140 → 217	Immunoglobulin C1-set domain	Domain
PF07686	V-set	226 → 336	Immunoglobulin V-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in colon, kidney, testis, lung and pancreas, and at lower levels in small intestine, liver and skeletal muscle. In immune cells, highly expressed in B-cells, dendritic cells and macrophages. Not detected in T-c

Sequence

MKAQTALSFFLILITSLSGSQGIFPLAFFIYVPMNEQIVIGRLDEDIILPSSFERGSEVV
IHWKYQDSYKVHSYYKGSDHLESQDPRYANRTSLFYNEIQNGNASLFFRRVSLLDEGIYT
CYVGTAIQVITNKVVLKVGVFLTPVMKYEKRNTNSFLICSVLSVYPRPIITWKMDNTPIS
ENNMEETGSLDSFSINSPLNITGSNSSYECTIENSLLKQTWTGRWTMKDGLHKMQSEHVS
LSCQPVNDYFSPNQDFKVTWSRMKSGTFSVLAYYLSSSQNTIINESRFSWNKELINQSDF
SMNLMDLNLSDSGEYLCNISSDEYTLLTIHTVHVEPSQETASHNKGLWILVPSAILAAFL
LIWSVKCCRAQLEARRSRHPADGAQQERCCVPPGERCPSAPDNGEENVPLSGKV

Sequence length

414

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (53)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27553831		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30548441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25549724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37643511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33990536, 35371079, 37081394, 37903974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27553831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	30447255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31379814, 31959726, 35794583, 36618968, 39247556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36922519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	30885276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	35145510	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29593422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	31379814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31379814	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34814366, 36982953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29967134, 31015801		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	35252444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	35920182, 36159808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31578594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	30885276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	31379814	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27553831, 29374053, 34181347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33429737	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34417325	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	31578594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25549724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29999557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29999557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27553831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30106102, 30447255, 30548441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31552567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25549724, 29374053, 31015801, 31379814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36003385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36003385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	31959726	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25549724, 27553831, 29374053, 29774123, 29967134, 30548441, 30602154, 30885276, 31015801, 31578594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27553831, 29374053, 30106102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	27531281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37210768	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30106102, 30447255, 30548441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30447255, 30548441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30106102, 30447255, 32071413, 35624419, 37130628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarteritis Nodosa	Polyarteritis Nodosa	BEFREE	31379814		★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYARTERITIS NODOSA, CHILDHOOD-ONSET	Polyarteritis Nodosa	BEFREE	31379814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	34417325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35252444	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36846109	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	36598731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31089395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32548602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31552567		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31883303, 32025206, 36430322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	30602154		★★★★★ ★☆☆☆☆ Found in Text Mining only

HHLA2 (HHLA2 member of B7 family)