ENSG00000148702
Homo sapiens | |
Features
| Gene ID: | ENSG00000148702 | | | | | Biological name : | HABP2 | | | | | Synonyms : | HABP2 / hyaluronan binding protein 2 / Q14520 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 10 | | Strand: | 1 | | Band: | q25.3 | | Gene start: | 113550837 | | Gene end: | 113589602 | | | | | Corresponding Affymetrix probe sets: | 206010_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000277903
Ensembl peptide - ENSP00000443283
NCBI entrez gene - 3026
See in Manteia.
OMIM - 603924
RefSeq - NM_001177660
RefSeq - NM_004132
RefSeq Peptide - NP_001171131
RefSeq Peptide - NP_004123
swissprot - Q14520
Ensembl - ENSG00000148702
| | | | | Related genetic diseases (OMIM): | 188050 - {Venous thromboembolism, susceptibility to}, 188050 | | | 616535 - {?Thyroid cancer, nonmedullary, 5}, 616535 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000001 | Kringle | | IPR000742 | EGF-like domain | | IPR001254 | Serine proteases, trypsin domain | | IPR001314 | Peptidase S1A, chymotrypsin family | | IPR001881 | EGF-like calcium-binding domain | | IPR009003 | Peptidase S1, PA clan | | IPR012224 | Peptidase S1A, coagulation factor VII/IX/X/C/Z | | IPR013032 | EGF-like, conserved site | | IPR013806 | Kringle-like fold | | IPR018056 | Kringle, conserved site | | IPR018114 | Serine proteases, trypsin family, histidine active site | | IPR033116 | Serine proteases, trypsin family, serine active site |
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0002176 | Spinal cord compression | |
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| | HP:0002653 | Bone pain | |
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| | HP:0002730 | Chronic noninfectious lymphadenopathy | |
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| | HP:0002757 | Recurrent fractures | "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] |
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| | HP:0002895 | Papillary thyroid carcinoma | |
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| | HP:0003003 | Colon cancer | |
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| | HP:0005994 | Nodular goiter | |
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| | HP:0006528 | Chronic lung disease | |
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| | HP:0006731 | Follicular thyroid carcinoma | |
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| | HP:0006766 | Papillary renal cell carcinoma | |
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| | HP:0012288 | Neoplasm of head and neck | "A neoplasm of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, and larynx." [HPO:probinson] |
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| | HP:3000037 | Abnormality of neck blood vessel | "An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck." [GOC:TermGenie, orcid.org/0000-0001-5889-4463] |
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Interacting proteins (from Reactome)
No match
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