HHIPL2 (HHIP like 2) - Rat Genome Database

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Gene: HHIPL2 (HHIP like 2) Homo sapiens
Analyze
Symbol: HHIPL2
Name: HHIP like 2
RGD ID: 1605638
HGNC Page HGNC:25842
Description: Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ13840; hedgehog interacting protein-like 2; HHIP-like 2; HHIP-like protein 2; KIAA0319-like; KIAA1822-like; KIAA1822L; RP11-378J18.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381222,522,264 - 222,548,104 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1222,522,258 - 222,548,104 (-)EnsemblGRCh38hg38GRCh38
GRCh371222,695,606 - 222,721,446 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361220,762,225 - 220,788,067 (-)NCBINCBI36Build 36hg18NCBI36
Celera1195,914,723 - 195,940,536 (-)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1193,369,651 - 193,395,588 (-)NCBIHuRef
CHM1_11223,968,242 - 223,994,082 (-)NCBICHM1_1
T2T-CHM13v2.01221,743,962 - 221,788,223 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11181995   PMID:12477932   PMID:12975309   PMID:14702039   PMID:16344560   PMID:20379614   PMID:22237814   PMID:25416956   PMID:25910212   PMID:33961781   PMID:35156780  


Genomics

Comparative Map Data
HHIPL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381222,522,264 - 222,548,104 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1222,522,258 - 222,548,104 (-)EnsemblGRCh38hg38GRCh38
GRCh371222,695,606 - 222,721,446 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361220,762,225 - 220,788,067 (-)NCBINCBI36Build 36hg18NCBI36
Celera1195,914,723 - 195,940,536 (-)NCBICelera
Cytogenetic Map1q41NCBI
HuRef1193,369,651 - 193,395,588 (-)NCBIHuRef
CHM1_11223,968,242 - 223,994,082 (-)NCBICHM1_1
T2T-CHM13v2.01221,743,962 - 221,788,223 (-)NCBIT2T-CHM13v2.0
Hhipl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391183,195,395 - 183,217,962 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1183,199,147 - 183,217,717 (+)EnsemblGRCm39 Ensembl
GRCm381183,414,463 - 183,437,053 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1183,418,215 - 183,436,808 (+)EnsemblGRCm38mm10GRCm38
Celera1190,419,140 - 190,437,761 (+)NCBICelera
Cytogenetic Map1H5NCBI
Hhipl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81397,586,296 - 97,606,223 (+)NCBIGRCr8
mRatBN7.21395,054,685 - 95,074,609 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1395,054,694 - 95,074,608 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.013101,814,574 - 101,835,144 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl13101,814,574 - 101,834,584 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.013101,018,604 - 101,039,174 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41399,492,284 - 99,511,648 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11399,681,219 - 99,703,776 (+)NCBI
Celera1394,581,035 - 94,600,983 (+)NCBICelera
Cytogenetic Map13q26NCBI
Hhipl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555201,930,606 - 1,942,727 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555201,926,220 - 1,942,928 (+)NCBIChiLan1.0ChiLan1.0
HHIPL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2126,770,606 - 26,798,744 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1126,726,604 - 26,752,351 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01198,195,530 - 198,222,023 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11203,209,637 - 203,231,696 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1203,209,978 - 203,235,551 (-)Ensemblpanpan1.1panPan2
HHIPL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13816,791,695 - 16,818,482 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3816,791,695 - 16,818,411 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3816,847,143 - 16,873,882 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03816,837,055 - 16,863,844 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3816,837,052 - 16,863,790 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13816,842,571 - 16,869,316 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03817,192,436 - 17,218,981 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03817,486,141 - 17,513,114 (-)NCBIUU_Cfam_GSD_1.0
Hhipl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934454,762,774 - 54,785,978 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493665011,042 - 33,985 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493665010,986 - 33,985 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HHIPL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1011,315,849 - 11,336,308 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11011,315,847 - 11,345,043 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21013,424,913 - 13,454,072 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HHIPL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1257,024,388 - 7,051,587 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660557,263,481 - 7,290,165 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hhipl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248355,103,519 - 5,118,240 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HHIPL2
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:220673535-223683512)x1 copy number loss See cases [RCV000135795] Chr1:220673535..223683512 [GRCh38]
Chr1:220846877..223871214 [GRCh37]
Chr1:218913500..221937837 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:221979950-223007060)x3 copy number gain See cases [RCV000137718] Chr1:221979950..223007060 [GRCh38]
Chr1:222153292..223180402 [GRCh37]
Chr1:220219915..221247025 [NCBI36]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13
pathogenic
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_024746.4(HHIPL2):c.1535C>A (p.Pro512Gln) single nucleotide variant Inborn genetic diseases [RCV003277570] Chr1:222538690 [GRCh38]
Chr1:222712032 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_024746.4(HHIPL2):c.796C>T (p.Pro266Ser) single nucleotide variant Inborn genetic diseases [RCV003268380] Chr1:222543715 [GRCh38]
Chr1:222717057 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.589G>A (p.Val197Met) single nucleotide variant not provided [RCV000903396] Chr1:222543922 [GRCh38]
Chr1:222717264 [GRCh37]
Chr1:1q41
benign
NM_024746.4(HHIPL2):c.225C>T (p.Asp75=) single nucleotide variant not provided [RCV000971262] Chr1:222547820 [GRCh38]
Chr1:222721162 [GRCh37]
Chr1:1q41
benign
NM_024746.4(HHIPL2):c.490dup (p.Asp164fs) duplication not provided [RCV000880385] Chr1:222544020..222544021 [GRCh38]
Chr1:222717362..222717363 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1 copy number loss not provided [RCV001005174] Chr1:219734913..224104993 [GRCh37]
Chr1:1q41-42.11
pathogenic
GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)x1 copy number loss not provided [RCV001005178] Chr1:222641389..228137574 [GRCh37]
Chr1:1q41-42.13
pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44
pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_024746.4(HHIPL2):c.2153G>C (p.Arg718Pro) single nucleotide variant Inborn genetic diseases [RCV003249713] Chr1:222522623 [GRCh38]
Chr1:222695965 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1459C>A (p.Leu487Met) single nucleotide variant not provided [RCV000894006] Chr1:222538766 [GRCh38]
Chr1:222712108 [GRCh37]
Chr1:1q41
benign|likely benign
NM_024746.4(HHIPL2):c.2046dup (p.Gly683fs) duplication not provided [RCV000888636] Chr1:222522729..222522730 [GRCh38]
Chr1:222696071..222696072 [GRCh37]
Chr1:1q41
benign
NM_024746.4(HHIPL2):c.2097G>A (p.Arg699=) single nucleotide variant not provided [RCV000956626] Chr1:222522679 [GRCh38]
Chr1:222696021 [GRCh37]
Chr1:1q41
benign
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43
pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44
pathogenic
GRCh37/hg19 1q41-42.12(chr1:222605125-224696628)x1 copy number loss not provided [RCV001259110] Chr1:222605125..224696628 [GRCh37]
Chr1:1q41-42.12
pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
Single allele deletion Loeys-Dietz syndrome 4 [RCV001837015] Chr1:215199578..223035427 [GRCh37]
Chr1:1q41
pathogenic
GRCh37/hg19 1q41-42.13(chr1:221303919-227461343) copy number gain not specified [RCV002052845] Chr1:221303919..227461343 [GRCh37]
Chr1:1q41-42.13
pathogenic
GRCh37/hg19 1q41(chr1:222153928-223209242) copy number loss not specified [RCV002052856] Chr1:222153928..223209242 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_024746.4(HHIPL2):c.1441G>T (p.Ala481Ser) single nucleotide variant Inborn genetic diseases [RCV002749877] Chr1:222540019 [GRCh38]
Chr1:222713361 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1 copy number loss not provided [RCV002474859] Chr1:221325488..225804228 [GRCh37]
Chr1:1q41-42.12
uncertain significance
NM_024746.4(HHIPL2):c.1226C>A (p.Ala409Asp) single nucleotide variant Inborn genetic diseases [RCV002728360] Chr1:222540234 [GRCh38]
Chr1:222713576 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.860G>T (p.Arg287Leu) single nucleotide variant Inborn genetic diseases [RCV002841542] Chr1:222543651 [GRCh38]
Chr1:222716993 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.902T>C (p.Val301Ala) single nucleotide variant Inborn genetic diseases [RCV002860674] Chr1:222543609 [GRCh38]
Chr1:222716951 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1657T>C (p.Cys553Arg) single nucleotide variant Inborn genetic diseases [RCV002778943] Chr1:222532032 [GRCh38]
Chr1:222705374 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.781A>C (p.Ile261Leu) single nucleotide variant Inborn genetic diseases [RCV002774528] Chr1:222543730 [GRCh38]
Chr1:222717072 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1864C>T (p.Arg622Trp) single nucleotide variant Inborn genetic diseases [RCV002945868] Chr1:222523636 [GRCh38]
Chr1:222696978 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.659T>A (p.Val220Asp) single nucleotide variant Inborn genetic diseases [RCV003012888] Chr1:222543852 [GRCh38]
Chr1:222717194 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1442C>T (p.Ala481Val) single nucleotide variant Inborn genetic diseases [RCV002753633] Chr1:222540018 [GRCh38]
Chr1:222713360 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.358G>A (p.Glu120Lys) single nucleotide variant Inborn genetic diseases [RCV002683933] Chr1:222544153 [GRCh38]
Chr1:222717495 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1381A>G (p.Asn461Asp) single nucleotide variant Inborn genetic diseases [RCV002778644] Chr1:222540079 [GRCh38]
Chr1:222713421 [GRCh37]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association
NM_024746.4(HHIPL2):c.1757G>C (p.Ser586Thr) single nucleotide variant Inborn genetic diseases [RCV002950435] Chr1:222527017 [GRCh38]
Chr1:222700359 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.710A>G (p.Gln237Arg) single nucleotide variant Inborn genetic diseases [RCV002782693] Chr1:222543801 [GRCh38]
Chr1:222717143 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.551T>A (p.Val184Asp) single nucleotide variant Inborn genetic diseases [RCV002660136] Chr1:222543960 [GRCh38]
Chr1:222717302 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1586T>C (p.Met529Thr) single nucleotide variant Inborn genetic diseases [RCV002694440] Chr1:222532103 [GRCh38]
Chr1:222705445 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.782T>G (p.Ile261Ser) single nucleotide variant Inborn genetic diseases [RCV002980147] Chr1:222543729 [GRCh38]
Chr1:222717071 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1846G>C (p.Val616Leu) single nucleotide variant Inborn genetic diseases [RCV002912169] Chr1:222523654 [GRCh38]
Chr1:222696996 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.419T>C (p.Phe140Ser) single nucleotide variant Inborn genetic diseases [RCV002886810] Chr1:222544092 [GRCh38]
Chr1:222717434 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.745A>G (p.Ser249Gly) single nucleotide variant Inborn genetic diseases [RCV002713485] Chr1:222543766 [GRCh38]
Chr1:222717108 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.2069T>C (p.Val690Ala) single nucleotide variant Inborn genetic diseases [RCV002919449] Chr1:222522707 [GRCh38]
Chr1:222696049 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.727G>T (p.Val243Phe) single nucleotide variant Inborn genetic diseases [RCV002699339] Chr1:222543784 [GRCh38]
Chr1:222717126 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.793A>G (p.Thr265Ala) single nucleotide variant Inborn genetic diseases [RCV002964410] Chr1:222543718 [GRCh38]
Chr1:222717060 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1952C>T (p.Thr651Ile) single nucleotide variant Inborn genetic diseases [RCV002835804] Chr1:222522824 [GRCh38]
Chr1:222696166 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.46C>T (p.Arg16Trp) single nucleotide variant Inborn genetic diseases [RCV002669170] Chr1:222547999 [GRCh38]
Chr1:222721341 [GRCh37]
Chr1:1q41
likely benign
NM_024746.4(HHIPL2):c.1799C>T (p.Pro600Leu) single nucleotide variant Inborn genetic diseases [RCV002935926] Chr1:222526975 [GRCh38]
Chr1:222700317 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1288G>A (p.Asp430Asn) single nucleotide variant Inborn genetic diseases [RCV002808023] Chr1:222540172 [GRCh38]
Chr1:222713514 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.838C>T (p.His280Tyr) single nucleotide variant Inborn genetic diseases [RCV002808407] Chr1:222543673 [GRCh38]
Chr1:222717015 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1069G>A (p.Gly357Arg) single nucleotide variant Inborn genetic diseases [RCV002673004] Chr1:222542061 [GRCh38]
Chr1:222715403 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.630C>A (p.Ser210Arg) single nucleotide variant Inborn genetic diseases [RCV002940051] Chr1:222543881 [GRCh38]
Chr1:222717223 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.20C>T (p.Pro7Leu) single nucleotide variant Inborn genetic diseases [RCV003257171] Chr1:222548025 [GRCh38]
Chr1:222721367 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1358T>C (p.Val453Ala) single nucleotide variant Inborn genetic diseases [RCV003173009] Chr1:222540102 [GRCh38]
Chr1:222713444 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.230G>T (p.Arg77Leu) single nucleotide variant Inborn genetic diseases [RCV003180105] Chr1:222547815 [GRCh38]
Chr1:222721157 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.128C>G (p.Pro43Arg) single nucleotide variant Inborn genetic diseases [RCV003286391] Chr1:222547917 [GRCh38]
Chr1:222721259 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1859G>C (p.Ser620Thr) single nucleotide variant Inborn genetic diseases [RCV003342404] Chr1:222523641 [GRCh38]
Chr1:222696983 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.310A>G (p.Ile104Val) single nucleotide variant Inborn genetic diseases [RCV003374450] Chr1:222547735 [GRCh38]
Chr1:222721077 [GRCh37]
Chr1:1q41
uncertain significance
NM_024746.4(HHIPL2):c.1947T>A (p.Ser649Arg) single nucleotide variant Inborn genetic diseases [RCV003347031] Chr1:222522829 [GRCh38]
Chr1:222696171 [GRCh37]
Chr1:1q41
uncertain significance
GRCh37/hg19 1q41-42.11(chr1:222641390-224104993)x1 copy number loss not provided [RCV003484055] Chr1:222641390..224104993 [GRCh37]
Chr1:1q41-42.11
uncertain significance
NM_024746.4(HHIPL2):c.1007A>G (p.Asn336Ser) single nucleotide variant Inborn genetic diseases [RCV003378565] Chr1:222542123 [GRCh38]
Chr1:222715465 [GRCh37]
Chr1:1q41
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:878
Count of miRNA genes:614
Interacting mature miRNAs:680
Transcripts:ENST00000343410, ENST00000468172, ENST00000473144, ENST00000494899
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D1S2821  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q41UniSTS
HuRef1193,382,037 - 193,382,127UniSTS
Marshfield Genetic Map1242.34UniSTS
Marshfield Genetic Map1242.34RGD
Genethon Genetic Map1245.7UniSTS
deCODE Assembly Map1227.48UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 3 45 11 2 11 2 12 19 5 272 78 1
Low 56 231 821 165 158 59 266 39 283 51 649 797 114 86 168
Below cutoff 2262 2463 808 402 1406 352 3690 1722 3278 213 513 700 54 1096 2299 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_024746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_426906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK023902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA868891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000343410   ⟹   ENSP00000342118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1222,522,264 - 222,548,104 (-)Ensembl
RefSeq Acc Id: ENST00000468172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1222,522,809 - 222,538,843 (-)Ensembl
RefSeq Acc Id: ENST00000473144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1222,522,258 - 222,525,239 (-)Ensembl
RefSeq Acc Id: ENST00000494899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1222,538,729 - 222,540,103 (-)Ensembl
RefSeq Acc Id: NM_024746   ⟹   NP_079022
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381222,522,264 - 222,548,104 (-)NCBI
GRCh371222,695,602 - 222,721,444 (-)RGD
Build 361220,762,225 - 220,788,067 (-)NCBI Archive
Celera1195,914,723 - 195,940,536 (-)RGD
HuRef1193,369,651 - 193,395,588 (-)ENTREZGENE
CHM1_11223,968,242 - 223,994,082 (-)NCBI
T2T-CHM13v2.01221,756,027 - 221,781,870 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509986   ⟹   XP_011508288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381222,525,016 - 222,548,104 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449814   ⟹   XP_024305582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381222,522,288 - 222,548,104 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054338767   ⟹   XP_054194742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01221,743,962 - 221,781,870 (-)NCBI
RefSeq Acc Id: XM_054338768   ⟹   XP_054194743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01221,743,962 - 221,781,870 (-)NCBI
RefSeq Acc Id: XM_054338769   ⟹   XP_054194744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01221,758,779 - 221,781,870 (-)NCBI
RefSeq Acc Id: XM_054338770   ⟹   XP_054194745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01221,743,962 - 221,788,223 (-)NCBI
RefSeq Acc Id: XM_054338771   ⟹   XP_054194746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01221,772,437 - 221,781,870 (-)NCBI
RefSeq Acc Id: XR_007063703
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381222,538,686 - 222,548,104 (-)NCBI
RefSeq Acc Id: NP_079022   ⟸   NM_024746
- Peptide Label: precursor
- UniProtKB: Q96BU5 (UniProtKB/Swiss-Prot),   Q96BT4 (UniProtKB/Swiss-Prot),   Q6GU65 (UniProtKB/Swiss-Prot),   Q9H8A0 (UniProtKB/Swiss-Prot),   Q6UWX4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011508288   ⟸   XM_011509986
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024305582   ⟸   XM_024449814
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000342118   ⟸   ENST00000343410
RefSeq Acc Id: XP_054194745   ⟸   XM_054338770
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054194743   ⟸   XM_054338768
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194742   ⟸   XM_054338767
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054194744   ⟸   XM_054338769
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054194746   ⟸   XM_054338771
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6UWX4-F1-model_v2 AlphaFold Q6UWX4 1-724 view protein structure

Promoters
RGD ID:6859046
Promoter ID:EPDNEW_H2687
Type:initiation region
Name:HHIPL2_1
Description:HHIP like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381222,548,104 - 222,548,164EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25842 AgrOrtholog
COSMIC HHIPL2 COSMIC
Ensembl Genes ENSG00000143512 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000343410 ENTREZGENE
  ENST00000343410.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.120.10.30 UniProtKB/Swiss-Prot
GTEx ENSG00000143512 GTEx
HGNC ID HGNC:25842 ENTREZGENE
Human Proteome Map HHIPL2 Human Proteome Map
InterPro 6-blade_b-propeller_TolB-like UniProtKB/Swiss-Prot
  Folate_rcpt-like UniProtKB/Swiss-Prot
  Glc/Sorbosone_DH UniProtKB/Swiss-Prot
  Quinoprot_gluc/sorb_DH UniProtKB/Swiss-Prot
KEGG Report hsa:79802 UniProtKB/Swiss-Prot
NCBI Gene 79802 ENTREZGENE
OMIM 620214 OMIM
PANTHER HEDGEHOG-INTERACTING PROTEIN UniProtKB/Swiss-Prot
  HHIP-LIKE PROTEIN 2 UniProtKB/Swiss-Prot
Pfam Folate_rec UniProtKB/Swiss-Prot
  GSDH UniProtKB/Swiss-Prot
PharmGKB PA162390914 PharmGKB
Superfamily-SCOP SSF50952 UniProtKB/Swiss-Prot
UniProt HIPL2_HUMAN UniProtKB/Swiss-Prot
  Q6GU65 ENTREZGENE
  Q6UWX4 ENTREZGENE
  Q96BT4 ENTREZGENE
  Q96BU5 ENTREZGENE
  Q9H8A0 ENTREZGENE
UniProt Secondary Q6GU65 UniProtKB/Swiss-Prot
  Q96BT4 UniProtKB/Swiss-Prot
  Q96BU5 UniProtKB/Swiss-Prot
  Q9H8A0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 HHIPL2  HHIP like 2    HHIP-like 2  Symbol and/or name change 5135510 APPROVED