GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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IHH (Indian hedgehog signaling molecule)

Gene

3549

Indian hedgehog signaling molecule

IHH

BDA1, HHG2

2q35

This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essen

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917853	C>T	Pathogenic	Coding sequence variant, missense variant
rs121917857	A>G	Pathogenic	Coding sequence variant, missense variant
rs121917861	G>A	Pathogenic	Coding sequence variant, missense variant
rs143959492	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs267606872	G>T	Pathogenic	Coding sequence variant, missense variant
rs267606873	C>T	Pathogenic	Coding sequence variant, missense variant
rs1454141074	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(121)

miRTarBase ID	miRNA	Experiments	Reference
MIRT447255	hsa-miR-4433b-3p	PAR-CLIP	22100165
MIRT447254	hsa-miR-518c-5p	PAR-CLIP	22100165
MIRT447253	hsa-miR-326	PAR-CLIP	22100165
MIRT447252	hsa-miR-330-5p	PAR-CLIP	22100165
MIRT447251	hsa-miR-6764-3p	PAR-CLIP	22100165
MIRT447250	hsa-miR-6824-3p	PAR-CLIP	22100165
MIRT447249	hsa-miR-378j	PAR-CLIP	22100165
MIRT447248	hsa-miR-6839-5p	PAR-CLIP	22100165
MIRT447247	hsa-miR-3150b-3p	PAR-CLIP	22100165
MIRT447245	hsa-miR-4784	PAR-CLIP	22100165
MIRT447246	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447244	hsa-miR-593-3p	PAR-CLIP	22100165
MIRT447243	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT447242	hsa-miR-4711-3p	PAR-CLIP	22100165
MIRT447241	hsa-miR-3191-5p	PAR-CLIP	22100165
MIRT447240	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT447239	hsa-miR-5706	PAR-CLIP	22100165
MIRT447238	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447237	hsa-miR-3915	PAR-CLIP	22100165
MIRT447236	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT447235	hsa-miR-4689	PAR-CLIP	22100165
MIRT447233	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT447255	hsa-miR-4433b-3p	PAR-CLIP	22100165
MIRT447254	hsa-miR-518c-5p	PAR-CLIP	22100165
MIRT447253	hsa-miR-326	PAR-CLIP	22100165
MIRT447252	hsa-miR-330-5p	PAR-CLIP	22100165
MIRT447251	hsa-miR-6764-3p	PAR-CLIP	22100165
MIRT447250	hsa-miR-6824-3p	PAR-CLIP	22100165
MIRT447249	hsa-miR-378j	PAR-CLIP	22100165
MIRT447248	hsa-miR-6839-5p	PAR-CLIP	22100165
MIRT447247	hsa-miR-3150b-3p	PAR-CLIP	22100165
MIRT447245	hsa-miR-4784	PAR-CLIP	22100165
MIRT447246	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447244	hsa-miR-593-3p	PAR-CLIP	22100165
MIRT447243	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT447242	hsa-miR-4711-3p	PAR-CLIP	22100165
MIRT447241	hsa-miR-3191-5p	PAR-CLIP	22100165
MIRT447240	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT447239	hsa-miR-5706	PAR-CLIP	22100165
MIRT447238	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447237	hsa-miR-3915	PAR-CLIP	22100165
MIRT447236	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT447235	hsa-miR-4689	PAR-CLIP	22100165
MIRT447233	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT447255	hsa-miR-4433b-3p	PAR-CLIP	22100165
MIRT447254	hsa-miR-518c-5p	PAR-CLIP	22100165
MIRT447253	hsa-miR-326	PAR-CLIP	22100165
MIRT447252	hsa-miR-330-5p	PAR-CLIP	22100165
MIRT447251	hsa-miR-6764-3p	PAR-CLIP	22100165
MIRT447250	hsa-miR-6824-3p	PAR-CLIP	22100165
MIRT447249	hsa-miR-378j	PAR-CLIP	22100165
MIRT447248	hsa-miR-6839-5p	PAR-CLIP	22100165
MIRT447247	hsa-miR-3150b-3p	PAR-CLIP	22100165
MIRT447245	hsa-miR-4784	PAR-CLIP	22100165
MIRT447246	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447244	hsa-miR-593-3p	PAR-CLIP	22100165
MIRT447243	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT447242	hsa-miR-4711-3p	PAR-CLIP	22100165
MIRT447241	hsa-miR-3191-5p	PAR-CLIP	22100165
MIRT447240	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT447239	hsa-miR-5706	PAR-CLIP	22100165
MIRT447238	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447237	hsa-miR-3915	PAR-CLIP	22100165
MIRT447236	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT447235	hsa-miR-4689	PAR-CLIP	22100165
MIRT447233	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT447255	hsa-miR-4433b-3p	PAR-CLIP	22100165
MIRT447254	hsa-miR-518c-5p	PAR-CLIP	22100165
MIRT447253	hsa-miR-326	PAR-CLIP	22100165
MIRT447252	hsa-miR-330-5p	PAR-CLIP	22100165
MIRT447251	hsa-miR-6764-3p	PAR-CLIP	22100165
MIRT447250	hsa-miR-6824-3p	PAR-CLIP	22100165
MIRT447249	hsa-miR-378j	PAR-CLIP	22100165
MIRT447248	hsa-miR-6839-5p	PAR-CLIP	22100165
MIRT447247	hsa-miR-3150b-3p	PAR-CLIP	22100165
MIRT447245	hsa-miR-4784	PAR-CLIP	22100165
MIRT447246	hsa-miR-4764-5p	PAR-CLIP	22100165
MIRT447244	hsa-miR-593-3p	PAR-CLIP	22100165
MIRT447243	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT447242	hsa-miR-4711-3p	PAR-CLIP	22100165
MIRT447241	hsa-miR-3191-5p	PAR-CLIP	22100165
MIRT447240	hsa-miR-4782-5p	PAR-CLIP	22100165
MIRT447239	hsa-miR-5706	PAR-CLIP	22100165
MIRT447238	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447237	hsa-miR-3915	PAR-CLIP	22100165
MIRT447236	hsa-miR-1224-5p	PAR-CLIP	22100165
MIRT447235	hsa-miR-4689	PAR-CLIP	22100165
MIRT447233	hsa-miR-6858-5p	PAR-CLIP	22100165
MIRT1062907	hsa-miR-1202	CLIP-seq
MIRT1062908	hsa-miR-214	CLIP-seq
MIRT1062909	hsa-miR-2681	CLIP-seq
MIRT1062910	hsa-miR-298	CLIP-seq
MIRT1062911	hsa-miR-3154	CLIP-seq
MIRT1062912	hsa-miR-3179	CLIP-seq
MIRT1062913	hsa-miR-3194-5p	CLIP-seq
MIRT1062914	hsa-miR-3619-5p	CLIP-seq
MIRT1062915	hsa-miR-3972	CLIP-seq
MIRT1062916	hsa-miR-4291	CLIP-seq
MIRT1062917	hsa-miR-4300	CLIP-seq
MIRT1062918	hsa-miR-4716-3p	CLIP-seq
MIRT1062919	hsa-miR-4723-5p	CLIP-seq
MIRT1062920	hsa-miR-4761-5p	CLIP-seq
MIRT1062921	hsa-miR-761	CLIP-seq
MIRT1062922	hsa-miR-920	CLIP-seq
MIRT1062923	hsa-miR-922	CLIP-seq
MIRT1062924	hsa-miR-939	CLIP-seq
MIRT1922147	hsa-miR-663b	CLIP-seq
MIRT2014819	hsa-miR-1207-5p	CLIP-seq
MIRT2014820	hsa-miR-1273f	CLIP-seq
MIRT2014821	hsa-miR-4736	CLIP-seq
MIRT2014822	hsa-miR-4763-3p	CLIP-seq
MIRT2247162	hsa-miR-1275	CLIP-seq
MIRT2247163	hsa-miR-1827	CLIP-seq
MIRT2247164	hsa-miR-3612	CLIP-seq
MIRT2247165	hsa-miR-4525	CLIP-seq
MIRT2247166	hsa-miR-4665-5p	CLIP-seq
MIRT1062919	hsa-miR-4723-5p	CLIP-seq
MIRT2247167	hsa-miR-625	CLIP-seq
MIRT2247168	hsa-miR-650	CLIP-seq
MIRT2389320	hsa-miR-4651	CLIP-seq
MIRT2389321	hsa-miR-608	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
RUNX2	Unknown	21328448

Show/Hide all(59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	21537345
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001708	Process	Cell fate specification	IBA	21873635
GO:0001947	Process	Heart looping	ISS
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0003382	Process	Epithelial cell morphogenesis	IEA
GO:0003406	Process	Retinal pigment epithelium development	IEA
GO:0003413	Process	Chondrocyte differentiation involved in endochondral bone morphogenesis	IEA
GO:0005113	Function	Patched binding	IBA	21873635
GO:0005113	Function	Patched binding	IPI	21537345
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	IDA	21537345
GO:0005515	Function	Protein binding	IPI	20519495
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	21537345
GO:0006029	Process	Proteoglycan metabolic process	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA	21873635
GO:0007224	Process	Smoothened signaling pathway	IDA	21537345
GO:0007267	Process	Cell-cell signaling	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0010468	Process	Regulation of gene expression	IBA	21873635
GO:0016539	Process	Intein-mediated protein splicing	IEA
GO:0016540	Process	Protein autoprocessing	IEA
GO:0030704	Process	Vitelline membrane formation	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IEA
GO:0033085	Process	Negative regulation of T cell differentiation in thymus	ISS
GO:0033088	Process	Negative regulation of immature T cell proliferation in thymus	ISS
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	ISS
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035988	Process	Chondrocyte proliferation	IEA
GO:0040008	Process	Regulation of growth	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045453	Process	Bone resorption	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	ISS
GO:0046639	Process	Negative regulation of alpha-beta T cell differentiation	ISS
GO:0048074	Process	Negative regulation of eye pigmentation	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0048666	Process	Neuron development	IEA
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0060220	Process	Camera-type eye photoreceptor cell fate commitment	IEA
GO:0060323	Process	Head morphogenesis	IEA
GO:0061053	Process	Somite development	ISS
GO:0072498	Process	Embryonic skeletal joint development	IEA
GO:0090136	Process	Epithelial cell-cell adhesion	IEA
GO:0097421	Process	Liver regeneration	IEA

MIM	HGNC	e!Ensembl
600726	5956	ENSG00000163501

Protein

UniProt ID

Q14623

Protein name

Indian hedgehog protein (IHH) (EC 3.1.-.-) (HHG-2) [Cleaved into: Indian hedgehog protein N-product]

Protein function

Plays a role in embryonic morphogenesis; it is involved in the regulation of endochondral skeleton formation, and the development of retinal pigment epithelium (RPE), photoreceptors and periocular tissues (By similarity). {ECO:0000250|UniProtKB:

PDB

3K7G , 3K7H , 3K7I , 3K7J , 3N1F , 3N1M , 3N1O , 3N1P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01085	HH_signal	28 → 189	Hedgehog amino-terminal signalling domain	Domain
PF01079	Hint	192 → 397	Hint module	Family

Sequence

MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKT
LGASGRYEGKIARSSERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMN
QWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRNKYGLLARLAVEAGFDWVYY
ESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARVALSAVRPGDRVLAMGEDGSPTF
SDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQP
GQYVLVAGVPGLQPARVAAVSTHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLA
FWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLGRLLLEEGSFHPLGMSGAGS

Sequence length

411

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway Proteoglycans in cancer		Hedgehog ligand biogenesis Release of Hh-Np from the secreting cell Ligand-receptor interactions Activation of SMO HHAT G278V abrogates palmitoylation of Hh-Np

Associated diseases

Show/Hide Causal Diseases (8)

Causal
Disease name	Disease term	dbSNP ID	References
Acrocapitofemoral dysplasia	Acrocapitofemoral Dysplasia	rs121917856, rs121917857, rs1454141074	12632327, 21167467, 25959774
Brachydactyly	Brachydactyly, BRACHYDACTYLY, TYPE A1 (disorder), Brachydactyly type A1	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142	21167467, 11455389, 12384778, 25959774, 21537345, 12632327
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331	27793025
Macrocephaly	Macrocephaly, Relative macrocephaly	rs786204854, rs764333096, rs1557739557
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098
Syndactyly	Syndactyly, Type I	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304	21167467

Show/Hide Unknown Diseases (15)

Unknown
Disease name	Disease term	dbSNP ID	References
Acropectorovertebral dysplasia	Acropectorovertebral Dysplasia, F-Form		25959774
Camptodactyly of fingers	Clinodactyly of the 5th finger
Congenital clubfoot	Congenital clubfoot
Short femur	Congenital hypoplasia of femur
Congenital hypoplasia of radius	Congenital hypoplasia of radius
Congenital pectus carinatum	Congenital pectus carinatum
Congenital pectus excavatum	Congenital pectus excavatum
Corpus luteum cyst	Corpus Luteum Cyst		21239663
Dwarfism	Dwarfism
Endometrioma	Endometrioma		21063030
Endometriosis	Endometriosis	rs1800629, rs1143634	21063030
Hypoplasia of thumb	Hypoplasia of thumb
Micromelia	Micromelia
Ovarian cysts	Ovarian Cysts		21239663
Spade-like hand	Spade-like hand

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