Gene Gene information from NCBI Gene database.
Entrez ID 64399
Gene name Hedgehog interacting protein
Gene symbol HHIP
Synonyms (NCBI Gene)
HIP
Chromosome 4
Chromosome location 4q31.21
Summary This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns o
miRNA miRNA information provided by mirtarbase database.
809
miRTarBase ID miRNA Experiments Reference
MIRT557338 hsa-miR-186-5p HITS-CLIP 21572407
MIRT557336 hsa-miR-6507-5p HITS-CLIP 21572407
MIRT557335 hsa-miR-4789-3p HITS-CLIP 21572407
MIRT557334 hsa-miR-511-3p HITS-CLIP 21572407
MIRT557333 hsa-miR-567 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19561609, 19561611
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS 11435703
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606178 14866 ENSG00000164161
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96QV1
Protein name Hedgehog-interacting protein (HHIP) (HIP)
Protein function Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family.
PDB 2WFT , 2WFX , 2WG3 , 2WG4 , 3HO3 , 3HO4 , 3HO5 , 7PGK , 7PGL , 7PGM , 7PGN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03024 Folate_rec 38 220 Folate receptor family Domain
PF07995 GSDH 226 444 Glucose / Sorbosone dehydrogenase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. Highest expression in adult heart, liver and pancreas, and in fetal kidney. {ECO:0000269|PubMed:11435703, ECO:0000269|Ref.1}.
Sequence
MLKMLSFKLLLLAVALGFFEGDAKFGERNEGSGARRRRCLNGNPPKRLKRRDRRMMSQLE
LLSGGEMLCGGFYPRLSCCLRSDSPGLGRLENKIFSVTNNTECGKLLEEIKCALCSPHSQ
SLFHSPEREVLERDLVLPLLCKDYCKEFFYTCRGHIPGFLQTTADEFCFYYARKDGGLCF
PDFPRKQVRGPASNYLDQMEEYDKVEEISRKHKHNCFCIQ
EVVSGLRQPVGALHSGDGSQ
RLFILEKEGYVKILTPEGEIFKEPYLDIHKLVQSGIKGGDERGLLSLAFHPNYKKNGKLY
VSYTTNQERWAIGPHDHILRVVEYTVSRKNPHQVDLRTARVFLEVAELHRKHLGGQLLFG
PDGFLYIILGDGMITLDDMEEMDGLSDFTGSVLRLDVDTDMCNVPYSIPRSNPHFNSTNQ
PPEVFAHGLHDPGRCAVDRHPTDI
NINLTILCSDSNGKNRSSARILQIIKGKDYESEPSL
LEFKPFSNGPLVGGFVYRGCQSERLYGSYVFGDRNGNFLTLQQSPVTKQWQEKPLCLGTS
GSCRGYFSGHILGFGEDELGEVYILSSSKSMTQTHNGKLYKIVDPKRPLMPEECRATVQP
AQTLTSECSRLCRNGYCTPTGKCCCSPGWEGDFCRTAKCEPACRHGGVCVRPNKCLCKKG
YLGPQCEQVDRNIRRVTRAGILDQIIDMTSYLLDLTSYIV
Sequence length 700
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cAMP signaling pathway
Hedgehog signaling pathway
Pathways in cancer
Basal cell carcinoma
  Ligand-receptor interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic obstructive pulmonary disease association rs13147758, rs1828591, rs13118928 RCV001089649
RCV001089651
RCV001089650
Chronic obstructive pulmonary disease, biomass related association rs13147758, rs1828591, rs13118928 RCV001249581
RCV001249582
RCV001249583
Lung cancer Benign rs61730970 RCV005903340
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 17461467
Asthma Chronic Obstructive Pulmonary Disease Overlap Syndrome Associate 31631996
Carcinoma Adenoid Cystic Associate 26790448
Carcinoma Basal Cell Associate 11348463
Carcinoma Hepatocellular Associate 15373827, 36482325, 37120619, 8276102
Carcinoma Hepatocellular Inhibit 33277865
Carcinoma Mucoepidermoid Associate 26790448
Carcinoma Non Small Cell Lung Inhibit 31765425
Colorectal Neoplasms Associate 21339177
Colorectal Neoplasms Inhibit 37568084