Advanced Search (OLGA)

Gene: RESP18 (regulated endocrine specific protein 18) Sus scrofa

Subscribe to Updates

Analyze

Symbol:

RESP18

Name:

regulated endocrine specific protein 18

RGD ID:

13900919

Description:

INVOLVED IN in utero embryonic development (inferred); ASSOCIATED WITH alacrima, achalasia, and impaired intellectual development syndrome (ortholog); autosomal recessive distal hereditary motor neuronopathy 5 (ortholog); cerebrotendinous xanthomatosis (ortholog); FOUND IN perikaryon (ortholog); rough endoplasmic reticulum lumen (ortholog); secretory granule (ortholog)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

regulated endocrine-specific protein 18

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Latest Assembly:

Sscrofa11.1 - Pig Sscrofa11.1 Assembly

Position:

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	15	121,364,165 - 121,371,430 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	134,397,624 - 134,404,845 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RESP18	Pig	hypertension		ISO	Resp18 (Rattus norvegicus)	9068941		RGD	PMID:29570433 and REF_RGD_ID:14348960
RESP18	Pig	renal fibrosis		ISO	Resp18 (Rattus norvegicus)	9068941		RGD	PMID:29570433 and REF_RGD_ID:14348960

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RESP18	Pig	alacrima, achalasia, and impaired intellectual development syndrome		ISO	RESP18 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Alacrima more ...	ClinVar	PMID:28492532
RESP18	Pig	autosomal recessive distal hereditary motor neuronopathy 5		ISO	RESP18 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Neuronopathy more ...	ClinVar	PMID:28492532
RESP18	Pig	cerebrotendinous xanthomatosis		ISO	RESP18 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	ClinVar	PMID:28492532
RESP18	Pig	myofibrillar myopathy 1		ISO	RESP18 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy	ClinVar	PMID:28492532
RESP18	Pig	Neurodevelopmental Disorders		ISO	RESP18 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
RESP18	Pig	paroxysmal nonkinesigenic dyskinesia 1		ISO	RESP18 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia	ClinVar	PMID:28492532
RESP18	Pig	polydactyly		ISO	RESP18 (Homo sapiens)	8554872	ClinVar Annotator: match by term: Polydactyly	ClinVar

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RESP18	Pig	in utero embryonic development	acts_upstream_of_or_within	IEA	UniProtKB:P47939 and ensembl:ENSMUSP00000043783	150520179		Ensembl	GO_REF:0000107

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RESP18	Pig	cytoplasmic vesicle	located_in	IEA	UniProtKB-KW:KW-0968	150520179		UniProt	GO_REF:0000043
RESP18	Pig	endoplasmic reticulum	is_active_in	IBA	PANTHER:PTN000425596 and Resp18 (Rattus norvegicus)	150520179		GO_Central	GO_REF:0000033
RESP18	Pig	perikaryon		ISO	Resp18 (Rattus norvegicus)	9068941		RGD	PMID:9283614 and REF_RGD_ID:2303782
RESP18	Pig	rough endoplasmic reticulum lumen		ISO	Resp18 (Rattus norvegicus)	9068941		RGD	PMID:8132649 and REF_RGD_ID:69957
RESP18	Pig	secretory granule		ISO	Resp18 (Rattus norvegicus)	9068941		RGD	PMID:9415067 and REF_RGD_ID:2303781
RESP18	Pig	transport vesicle	located_in	IEA	UniProtKB-SubCell:SL-0244	150520179		UniProt	GO_REF:0000044

PMID:30032202

RESP18
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	15	121,364,165 - 121,371,430 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	134,397,624 - 134,404,845 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RESP18
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	219,327,407 - 219,336,656 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	219,327,407 - 219,333,177 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	220,192,129 - 220,197,899 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	219,900,375 - 219,906,143 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	2	213,962,131 - 213,967,896 (-)	NCBI		Celera
Cytogenetic Map	2	q35	NCBI
HuRef	2	212,045,173 - 212,050,937 (-)	NCBI		HuRef
CHM1_1	2	220,197,974 - 220,203,727 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	219,812,175 - 219,821,424 (-)	NCBI		T2T-CHM13v2.0

Resp18
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	75,248,841 - 75,255,059 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	75,248,843 - 75,255,059 (-)	Ensembl		GRCm39 Ensembl
GRCm38	1	75,272,197 - 75,278,415 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	75,272,199 - 75,278,415 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	1	75,268,777 - 75,274,955 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	1	75,155,350 - 75,161,528 (-)	NCBI		MGSCv36	mm8
Celera	1	75,763,036 - 75,769,217 (-)	NCBI		Celera
Cytogenetic Map	1	C4	NCBI
cM Map	1	38.65	NCBI

Resp18
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	9	84,213,844 - 84,220,186 (-)	NCBI		GRCr8
mRatBN7.2	9	76,765,179 - 76,771,824 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	9	76,764,590 - 76,778,722 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	9	85,209,715 - 85,216,056 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	9	90,338,603 - 90,344,944 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	9	88,724,817 - 88,731,158 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	9	82,470,794 - 82,477,136 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	9	82,470,759 - 82,477,181 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	9	82,240,055 - 82,246,695 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	9	74,551,809 - 74,558,151 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	9	74,698,790 - 74,705,133 (-)	NCBI
Celera	9	74,335,568 - 74,341,910 (-)	NCBI		Celera
Cytogenetic Map	9	q33	NCBI

Resp18
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955453	14,106,430 - 14,111,920 (+)	NCBI	ChiLan1.0	ChiLan1.0

RESP18
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	13	121,957,498 - 121,964,196 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2B	121,972,446 - 121,983,317 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	106,584,632 - 106,590,704 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2B	225,175,198 - 225,180,916 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2B	225,175,221 - 225,180,916 (-)	Ensembl	panpan1.1		panPan2

Resp18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405303	175,388,977 - 175,394,900 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936569	1,731,756 - 1,737,679 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RESP18
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	10	105,230,482 - 105,235,907 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	10	105,230,560 - 105,235,766 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	94,162,499 - 94,167,915 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Resp18
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624823	5,688,508 - 5,693,522 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in RESP18
219 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]\|See cases [RCV000051825]	Chr1:72661709..107456880 [GRCh38] Chr1:73127392..107999502 [GRCh37] Chr1:72899980..107801025 [NCBI36] Chr1:1p31.1-13.3	pathogenic
NM_012093.3(AK5):c.1069+12565A>T	single nucleotide variant	Lung cancer [RCV000090988]	Chr1:77498917 [GRCh38] Chr1:77964602 [GRCh37] Chr1:1p31.1	uncertain significance
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	copy number loss	See cases [RCV000136913]	Chr1:58819605..86098611 [GRCh38] Chr1:59285277..86564294 [GRCh37] Chr1:59057865..86336882 [NCBI36] Chr1:1p32.1-22.3	pathogenic
GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	copy number loss	See cases [RCV000138957]	Chr1:76419302..88628464 [GRCh38] Chr1:76884987..89094147 [GRCh37] Chr1:76657575..88866735 [NCBI36] Chr1:1p31.1-22.2	pathogenic
GRCh38/hg38 1p31.1(chr1:77256993-77510214)x1	copy number loss	See cases [RCV000142131]	Chr1:77256993..77510214 [GRCh38] Chr1:77722678..77975899 [GRCh37] Chr1:77495266..77748487 [NCBI36] Chr1:1p31.1	uncertain significance
GRCh38/hg38 1p31.1(chr1:77264562-77493002)x1	copy number loss	See cases [RCV000143317]	Chr1:77264562..77493002 [GRCh38] Chr1:77730247..77958687 [GRCh37] Chr1:77502835..77731275 [NCBI36] Chr1:1p31.1	likely benign\|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3	copy number loss	not provided [RCV000762767]	Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12	likely benign
GRCh37/hg19 1p31.1(chr1:77722678-77970795)x1	copy number loss	See cases [RCV000448416]	Chr1:77722678..77970795 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.609= (p.Lys203=)	single nucleotide variant	not provided [RCV004713972]\|not specified [RCV000454614]	Chr1:77297857 [GRCh38] Chr1:77763542 [GRCh37] Chr1:1p31.1	benign
NM_174858.3(AK5):c.1681_1683dup (p.Ile561dup)	duplication	not specified [RCV000454873]	Chr1:77558660..77558661 [GRCh38] Chr1:78024345..78024346 [GRCh37] Chr1:1p31.1	benign
NM_174858.3(AK5):c.1059+12C>T	single nucleotide variant	not provided [RCV004715175]\|not specified [RCV000455276]	Chr1:77417727 [GRCh38] Chr1:77883412 [GRCh37] Chr1:1p31.1	benign
NM_174858.3(AK5):c.1621-3T>C	single nucleotide variant	not provided [RCV004715176]\|not specified [RCV000456016]	Chr1:77558599 [GRCh38] Chr1:78024284 [GRCh37] Chr1:1p31.1	benign
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 1p31.1-22.1(chr1:72044544-92505091)x1	copy number loss	See cases [RCV000510161]	Chr1:72044544..92505091 [GRCh37] Chr1:1p31.1-22.1	pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	copy number loss	See cases [RCV000511392]	Chr1:64321264..88153669 [GRCh37] Chr1:1p31.3-22.3	pathogenic\|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	copy number gain	See cases [RCV000510973]	Chr1:74848936..80324850 [GRCh37] Chr1:1p31.1	uncertain significance
GRCh37/hg19 1p31.1(chr1:75648797-77770044)x1	copy number loss	See cases [RCV000510871]	Chr1:75648797..77770044 [GRCh37] Chr1:1p31.1	likely pathogenic
GRCh37/hg19 1p31.1(chr1:77823556-78281638)x1	copy number loss	See cases [RCV000511213]	Chr1:77823556..78281638 [GRCh37] Chr1:1p31.1	uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	copy number loss	See cases [RCV000512152]	Chr1:61351024..79583933 [GRCh37] Chr1:1p31.3-31.1	pathogenic
GRCh37/hg19 1p31.1(chr1:77717646-77970795)x1	copy number loss	not provided [RCV000684592]	Chr1:77717646..77970795 [GRCh37] Chr1:1p31.1	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	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 1p31.1(chr1:77768016-77781567)x1	copy number loss	not provided [RCV000736543]	Chr1:77768016..77781567 [GRCh37] Chr1:1p31.1	benign
GRCh37/hg19 1p31.1(chr1:77955577-78040287)x3	copy number gain	not provided [RCV000736544]	Chr1:77955577..78040287 [GRCh37] Chr1:1p31.1	benign
GRCh37/hg19 1p31.1(chr1:71410579-78131158)	copy number gain	not provided [RCV000767771]	Chr1:71410579..78131158 [GRCh37] Chr1:1p31.1	pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p31.1(chr1:77954138-78053851)x3	copy number gain	not provided [RCV000847497]	Chr1:77954138..78053851 [GRCh37] Chr1:1p31.1	uncertain significance
Single allele	deletion	not provided [RCV000844927]	Chr1:66085524..88429789 [GRCh37] Chr1:1p31.3-22.2	not provided
GRCh37/hg19 1p31.1(chr1:77153809-78015058)x3	copy number gain	not provided [RCV000847465]	Chr1:77153809..78015058 [GRCh37] Chr1:1p31.1	uncertain significance
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	copy number loss	not provided [RCV000846441]	Chr1:67851233..86101340 [GRCh37] Chr1:1p31.3-22.3	pathogenic
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	copy number loss	not specified [RCV002053392]	Chr1:68180293..92731957 [GRCh37] Chr1:1p31.3-22.1	pathogenic
GRCh37/hg19 1p31.1(chr1:77722678-77970795)x1	copy number loss	not specified [RCV002053447]	Chr1:77722678..77970795 [GRCh37] Chr1:1p31.1	uncertain significance
Single allele	duplication	not specified [RCV002286371]	Chr1:66885559..77949895 [GRCh38] Chr1:1p31.3-31.1	uncertain significance
NM_174858.3(AK5):c.280C>T (p.Arg94Trp)	single nucleotide variant	not specified [RCV004108567]	Chr1:77293825 [GRCh38] Chr1:77759510 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1420G>A (p.Gly474Arg)	single nucleotide variant	not specified [RCV004207491]	Chr1:77521935 [GRCh38] Chr1:77987620 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.195G>T (p.Lys65Asn)	single nucleotide variant	not specified [RCV004119458]	Chr1:77287075 [GRCh38] Chr1:77752760 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.47C>T (p.Pro16Leu)	single nucleotide variant	not specified [RCV004082392]	Chr1:77282360 [GRCh38] Chr1:77748045 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1393C>T (p.Arg465Trp)	single nucleotide variant	not specified [RCV004114865]	Chr1:77521908 [GRCh38] Chr1:77987593 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1642G>A (p.Glu548Lys)	single nucleotide variant	not specified [RCV004153590]	Chr1:77558623 [GRCh38] Chr1:78024308 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1070A>G (p.Gln357Arg)	single nucleotide variant	not specified [RCV004105866]	Chr1:77483327 [GRCh38] Chr1:77949012 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.886A>G (p.Met296Val)	single nucleotide variant	not specified [RCV004082684]	Chr1:77340563 [GRCh38] Chr1:77806248 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1420G>C (p.Gly474Arg)	single nucleotide variant	not specified [RCV004166622]	Chr1:77521935 [GRCh38] Chr1:77987620 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1344G>A (p.Met448Ile)	single nucleotide variant	not specified [RCV004177212]	Chr1:77521859 [GRCh38] Chr1:77987544 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.487G>A (p.Val163Met)	single nucleotide variant	not specified [RCV004146678]	Chr1:77297630 [GRCh38] Chr1:77763315 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1010T>C (p.Ile337Thr)	single nucleotide variant	not specified [RCV004110183]	Chr1:77417666 [GRCh38] Chr1:77883351 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.518G>A (p.Ser173Asn)	single nucleotide variant	not specified [RCV004124961]	Chr1:77297661 [GRCh38] Chr1:77763346 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.957A>T (p.Leu319Phe)	single nucleotide variant	not specified [RCV004197894]	Chr1:77411046 [GRCh38] Chr1:77876731 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.796G>A (p.Asp266Asn)	single nucleotide variant	not specified [RCV004122178]	Chr1:77340473 [GRCh38] Chr1:77806158 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1225G>C (p.Glu409Gln)	single nucleotide variant	not specified [RCV004168989]	Chr1:77518641 [GRCh38] Chr1:77984326 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.290G>A (p.Arg97Gln)	single nucleotide variant	not specified [RCV004177573]	Chr1:77293835 [GRCh38] Chr1:77759520 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.751A>G (p.Lys251Glu)	single nucleotide variant	not specified [RCV004267923]	Chr1:77340428 [GRCh38] Chr1:77806113 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.172A>G (p.Thr58Ala)	single nucleotide variant	not specified [RCV004327430]	Chr1:77287052 [GRCh38] Chr1:77752737 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1595A>T (p.Tyr532Phe)	single nucleotide variant	not specified [RCV004323861]	Chr1:77536013 [GRCh38] Chr1:78001698 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1291C>T (p.Arg431Cys)	single nucleotide variant	not specified [RCV004363369]	Chr1:77518707 [GRCh38] Chr1:77984392 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1318G>A (p.Val440Ile)	single nucleotide variant	not specified [RCV004349734]	Chr1:77521833 [GRCh38] Chr1:77987518 [GRCh37] Chr1:1p31.1	likely benign
NM_174858.3(AK5):c.360G>A (p.Glu120=)	single nucleotide variant	not provided [RCV003406565]	Chr1:77293905 [GRCh38] Chr1:77759590 [GRCh37] Chr1:1p31.1	likely benign
NM_174858.3(AK5):c.1314C>T (p.Gly438=)	single nucleotide variant	not provided [RCV003406566]	Chr1:77521829 [GRCh38] Chr1:77987514 [GRCh37] Chr1:1p31.1	likely benign
GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	copy number loss	not provided [RCV003885448]	Chr1:73616197..87012961 [GRCh37] Chr1:1p31.1-22.3	likely pathogenic
NM_174858.3(AK5):c.1061G>T (p.Gly354Val)	single nucleotide variant	not specified [RCV004388827]	Chr1:77483318 [GRCh38] Chr1:77949003 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1357G>A (p.Gly453Arg)	single nucleotide variant	not specified [RCV004391347]	Chr1:77521872 [GRCh38] Chr1:77987557 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1531A>G (p.Thr511Ala)	single nucleotide variant	not specified [RCV004391394]	Chr1:77535949 [GRCh38] Chr1:78001634 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.382A>G (p.Thr128Ala)	single nucleotide variant	not specified [RCV004396406]	Chr1:77293927 [GRCh38] Chr1:77759612 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.893T>G (p.Phe298Cys)	single nucleotide variant	not specified [RCV004396456]	Chr1:77410982 [GRCh38] Chr1:77876667 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1384G>A (p.Gly462Ser)	single nucleotide variant	not specified [RCV004391357]	Chr1:77521899 [GRCh38] Chr1:77987584 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1504C>T (p.Arg502Trp)	single nucleotide variant	not specified [RCV004391384]	Chr1:77535922 [GRCh38] Chr1:78001607 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.227G>A (p.Arg76Gln)	single nucleotide variant	not specified [RCV004396385]	Chr1:77287107 [GRCh38] Chr1:77752792 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.289C>T (p.Arg97Trp)	single nucleotide variant	not specified [RCV004621532]	Chr1:77293834 [GRCh38] Chr1:77759519 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.271C>T (p.Pro91Ser)	single nucleotide variant	not specified [RCV004915950]	Chr1:77293816 [GRCh38] Chr1:77759501 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1403A>T (p.Lys468Met)	single nucleotide variant	not specified [RCV004915959]	Chr1:77521918 [GRCh38] Chr1:77987603 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1634G>C (p.Gly545Ala)	single nucleotide variant	not specified [RCV004915968]	Chr1:77558615 [GRCh38] Chr1:78024300 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1582G>A (p.Val528Met)	single nucleotide variant	not specified [RCV004915948]	Chr1:77536000 [GRCh38] Chr1:78001685 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.1286T>C (p.Met429Thr)	single nucleotide variant	not specified [RCV004915946]	Chr1:77518702 [GRCh38] Chr1:77984387 [GRCh37] Chr1:1p31.1	uncertain significance
NM_174858.3(AK5):c.94G>A (p.Glu32Lys)	single nucleotide variant	not specified [RCV004915947]	Chr1:77286974 [GRCh38] Chr1:77752659 [GRCh37] Chr1:1p31.1	uncertain significance
GRCh37/hg19 1p31.1-22.2(chr1:76492334-91166951)x1	copy number loss	not provided [RCV004819327]	Chr1:76492334..91166951 [GRCh37] Chr1:1p31.1-22.2	pathogenic
NM_174858.3(AK5):c.1235G>A (p.Arg412His)	single nucleotide variant	not specified [RCV004915945]	Chr1:77518651 [GRCh38] Chr1:77984336 [GRCh37] Chr1:1p31.1	uncertain significance
GRCh37/hg19 1p34.1-22.2(chr1:44475302-89585894)x3	copy number gain	not provided [RCV004819297]	Chr1:44475302..89585894 [GRCh37] Chr1:1p34.1-22.2	pathogenic

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

alimentary part of gastrointestinal system	ectoderm	endocrine system	mesenchyme	nervous system	reproductive system
5	23	3	1	23	3


RefSeq Transcripts	XM_003133671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AEMK02000101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK391743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK400314	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CU457453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

XM_003133671 ⟹ XP_003133719

Type:

CODING

Position:

Pig Assembly	Chr	Position (strand)	Source
Sscrofa11.1	15	121,364,165 - 121,371,430 (-)	NCBI

Sequence:

show sequence

TTGGGTAGGCGTCCGCAGGGGCAGGGCGCACCAGCGATTGGCCCAGCTGCCAAGGGAGGGTTGTGCAGATTCAGTCTGGCCAGCGGGTGGGAAGCGACAGCCCCGCTCAATCCCTCCAGCAACTGTCT
CTCTTCTCTGCGACTGAAGTGGGGAGCCAGCGCGCCGAGCCCGGGAGGATGCAGTGCCTGCTGTGGCCTGGGGGCTCCCAGGGGCTCTGGCTGCTCCTCTGCTTCCTGCTGCTGAACAGCCACACTGG
GGGCTGCAGCGACATTAGTGGCCACGATGGTCAGGGCCAAGTGGGAGTGGGGCAGCTCTGGCCCCTCCAAGGATTTACCACCCCGATCTTCCAGCATTTGCAAGTTGTACTCCAGCAGATTGTGCCCC
AAGGTTTGTTCTGGAAGGATGACATGACCCAGAATGTGATGACCCAGAAGATGGGGCATATCAGCCAACTCCACCCCCAGGATCCATGTGTGAGGGTTGGGCAGGCAGCCTCTCCCACCAAAACCACT
GGGGCAAGGGGCAAACAAGAGGAGAAACTTCGACTCCTATTCCCCAAGAGCCCAGTGGTCAAGGTGAACAGGGATCAGTGCTTTACCTCCAAAGTGGTTGCAAAGGCCCTGAAACGAGAGGTGGCCAC
TCCTGCCAAGGGCTTCTTTGAGTCATCCCACACCGTGGGCCACAACCTTGTCGCTGACTGAGACCTCGTGCGAAGCCTTTTGCCCCAGTGCCCTTCCCTTTGCCCTCCCAAGGGGCAGTTCCAGCATG
ACCTGAATCTGGATCATTAAAGTGACTTTCACGCAAACTCTCTGTGACTTGCCCTGAGGCAGGATGGGTGATGTTTTGACCTGGCCAGGACCTCTGACCTGAGAGTGGGGGGACCAGAACAGGGGGAT
GGGGTGAGGAGAGCACAGTTGCTCCTTACTGCTAGAAGGCTGCCTCTGTCTTGTTTTTCTTCCAGTGACCATTCCAGAAGTGGGAAGAGCGAGGGTGGGCCCGCAGCTGGAATAGCAACCTTCTTTAC
CCACACCCAACTATGCTGTGTGGTCCTTCCATGTCAAGCCGGGACCCTGCTATTCTGTAGGGATCTCCACCTCCAGCATTCCTGCTAGGGTTTTCCTGCTTTTCATGCTCCAAGAATCTACATAGAAG
TGCTGTAATGAAAGTGCACGCACATTAAATATTTTGCTGACTCTT

hide sequence


Protein RefSeqs	XP_003133719	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSSCP00000017182
	ENSSSCP00000017182.2
	ENSSSCP00025008230.1
	ENSSSCP00030006586.1
	ENSSSCP00035008538.1
	ENSSSCP00040010742.1
	ENSSSCP00040010760.1
	ENSSSCP00055003573.1
	ENSSSCP00060026651.1
	ENSSSCP00060026656.1
	ENSSSCP00065020744.1
	ENSSSCP00065020753.1

RefSeq Acc Id:	XP_003133719 ⟸ XM_003133671
- UniProtKB:	F1SR77 (UniProtKB/TrEMBL), A0A8D1PB58 (UniProtKB/TrEMBL), A0A8D1K5E2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQCLLWPGGSQGLWLLLCFLLLNSHTGGCSDISGHDGQGQVGVGQLWPLQGFTTPIFQHLQVVLQQIVPQGLFWKDDMTQNVMTQKMGHISQLHPQDPCVRVGQAASPTKTTGARGKQEEKLRLLFPK SPVVKVNRDQCFTSKVVAKALKREVATPAKGFFESSHTVGHNLVAD hide sequence

Protein Domains

RESP18

Database	Acc Id	Source(s)
Ensembl Genes	ENSSSCG00000016219	ENTREZGENE, UniProtKB/TrEMBL
	ENSSSCG00025015032	UniProtKB/TrEMBL
	ENSSSCG00030010695	UniProtKB/TrEMBL
	ENSSSCG00035017881	UniProtKB/TrEMBL
	ENSSSCG00040018856	UniProtKB/TrEMBL
	ENSSSCG00055002447	UniProtKB/TrEMBL
	ENSSSCG00060045857	UniProtKB/TrEMBL
	ENSSSCG00065035317	UniProtKB/TrEMBL
Ensembl Transcript	ENSSSCT00000017660	ENTREZGENE
	ENSSSCT00000017660.4	UniProtKB/TrEMBL
	ENSSSCT00025020128.1	UniProtKB/TrEMBL
	ENSSSCT00030014664.1	UniProtKB/TrEMBL
	ENSSSCT00035023035.1	UniProtKB/TrEMBL
	ENSSSCT00040025447.1	UniProtKB/TrEMBL
	ENSSSCT00040025498.1	UniProtKB/TrEMBL
	ENSSSCT00055004632.1	UniProtKB/TrEMBL
	ENSSSCT00060062214.1	UniProtKB/TrEMBL
	ENSSSCT00060062228.1	UniProtKB/TrEMBL
	ENSSSCT00065048103.1	UniProtKB/TrEMBL
	ENSSSCT00065048120.1	UniProtKB/TrEMBL
InterPro	RESP18	UniProtKB/TrEMBL
	RESP18_dom	UniProtKB/TrEMBL
KEGG Report	ssc:100522649	UniProtKB/TrEMBL
NCBI Gene	RESP18	ENTREZGENE
PANTHER	PTHR17314	UniProtKB/TrEMBL
	REGULATED ENDOCRINE-SPECIFIC PROTEIN 18	UniProtKB/TrEMBL
Pfam	RESP18	UniProtKB/TrEMBL
SMART	RESP18	UniProtKB/TrEMBL
UniProt	A0A8D1K5E2	ENTREZGENE, UniProtKB/TrEMBL
	A0A8D1PB58	ENTREZGENE, UniProtKB/TrEMBL
	A0A8D1YF03_PIG	UniProtKB/TrEMBL
	F1SR77	ENTREZGENE, UniProtKB/TrEMBL

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
		Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Send us a Message

Imported Disease Annotations - ClinVar