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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15970691, 17461467
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 30510241, 31089142
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 20853133
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 23440386
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 31739987
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 15754313
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 21397937
★☆☆☆☆
Found in Text Mining only
Autoimmune Chronic Hepatitis Autoimmune hepatitis BEFREE 12939584
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 30069426
★☆☆☆☆
Found in Text Mining only